General Information
Symbol
Dmel\Dfd
Species
D. melanogaster
Name
Deformed
Annotation Symbol
CG2189
Feature Type
FlyBase ID
FBgn0000439
Gene Model Status
Stock Availability
Gene Snapshot
Deformed is a homeobox-containing transcription factor mainly involved in proper morphological identity of the maxillary segment and the posterior half of the mandibular segment. [Date last reviewed: 2016-06-30]
Also Known As
DmDfd
Genomic Location
Cytogenetic map
Sequence location
3R:6,791,836..6,802,428 [+]
Recombination map
3-48
Sequence
Other Genome Views
The following external sites may use different assemblies or annotations than FlyBase.
GO Summary Ribbons
Families, Domains and Molecular Function
Protein Family (UniProt, Sequence Similarities)
Belongs to the Antp homeobox family. Deformed subfamily. (P07548)
Summaries
Gene Group Membership
ANTENNAPEDIA COMPLEX -
The Antennapedia complex (ANT-C) is one of two Hox gene complexes. Hox genes encode homeodomain transcription factors. ANT-C controls the identity of segments that contribute to the head and the anterior thorax. ANT-C homeotic genes show colinearity in their expression patterns with the exception of pb. (Adapted from FBrf0190304).
HOX-LIKE HOMEOBOX TRANSCRIPTION FACTORS -
HOX-like (HOXL) homeobox transcription factors are sequence-specific DNA binding proteins that regulate transcription. They encompass transcription factors encoded by the Hox genes of the Antennapedia and the Bithorax gene complexes and genes closely related in sequence. HOXL transcription factors are major regulators of animal development. (Adapted from FBrf0232555).
UniProt Contributed Function Data
Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Homeotic protein controlling Drosophila head development. Transcriptional activator of the apoptotic activator protein rpr in cells at the maxillary/mandibular boundary.
(UniProt, P07548)
Phenotypic Description from the Red Book (Lindsley and Zimm 1992)
Dfd: Deformed
thumb
Dfd: Deformed
From Bridges and Morgan, 1923, Carnegie Inst. Washington Publ. No. 327: 94.
Null mutations act as recessive lethals. Homozygous or hemizygous animals die at the end of embryogenesis and show a spectrum of defects in the head. There are no discernible defects in the trunk. The head defects are associated with missing structures normally derived from the mandibular and maxillary segments, the dorsal lateral papillae of the maxillary sense organ, the mouth hooks, and the maxillary cirri. The remaining gnathal structures are present albeit disarranged likely due to abnormalities in the movements associated with head involution. A weak homeotic transformation (30-50% penetrance) has also been noted in animals hemizygous for a breakpoint-associated revertant of the single dominant gain-of-function allele (Dfdrv1). The phenotype is an apparent transformation of the H piece and lateral-graten which appear to be replaced by cephalopharyngeal plates. This phenotype has not been observed in any other mutant genotype and the reason for its low-penetrance production by this particular allele is not known. X-ray-induced somatic clones of Dfd- cells have shown that the locus is also required for adult head development. These cells develop normally in the thorax and abdomen but do not form structures in the ventral anterior aspect of the head; specifically the vibrissae and maxillary palps. Clones in the dorsal posterior part of the head form ectopic bristles which have been interpreted as a head to thoracic transformation. A temperature-conditional allele has been used to define two temperature-critical periods for Dfd+ activity. The first is during embryogenesis during segmentation and head involution, while the second occurs in the late third instar larval through mid pupal stages. These times correlate nicely with the observed cuticular defects in mutant animals and the times of peak gene product accumulation. There is a single dominant gain-of-function allele which causes defects in the ventral aspects of the adult head similar to those seen in the Dfd- head clones mentioned above. There are no defects seen in the posterior of the head nor does this allele cause any embryonic or larval defects as a heterozygote, homozygote, or hemizygote. This allele is associated with a group of B104 (roo) insertion elements (ca. 50 kb of inserted DNA) as well as a duplication of the 3 exons of the Dfd transcription unit (see below). The mutant causes an extended spatial domain of expression of the locus into the eye portion of the eye-antennal disc as compared to the pattern seen in normal animals. The precise cause-effect relationship between the observed molecular defect and the mutant phenotype is not known except that partial deletion of the B104 elements but not the 3 end duplication causes a reversion of the dominant phenotype and has no apparent effect on the wild type function of the resident Dfd gene. This dominant allele has been reverted and these revertants act as a simple recessive loss-of-function alleles with the one exception noted above. The Dfd transcript is initially detected at the blastoderm stage in a band of cells at the position of the future cephalic furrow. This RNA shows maximal accumulation from 6-12 hours of embryogenesis when it is found in the mandibular and maxillary lobes, as well as in the subesophageal reigon of the CNS. The amount of Dfd RNA diminishes through the first and second larval instars and peaks again during the third instar. At this point, it is found in the peripodial membrane cells of the eye-antennal discs. The cells which accumulate the RNA are those which have been fate mapped to give rise to the adult-head-capsule structures which are defective in Dfd- clones. Antibodies raised to Dfd protein have shown a similar pattern of accumulation to that seen for the RNA. The protein is first detected in cellular blastoderm stage in a stripe of six cells which circumscribes the embryo. As germ-band elongation proceeds and segmentation becomes evident Dfd protein is detected in the mandibular and maxillary lobes and a portion of the dorsal ridge. During germ-band shortening protein is no longer detectable in the mandibular lobe or in the anterior lateral aspect of the maxillary lobe. The process of head involution carries the Dfd-expressing cells interiorly where they are found in portions of the pharynx at the end of embryogenesis. Dfd-positive cells are also found in the subesophageal region of the CNS in the maxillary ganglion. This expression pattern has been shown to be dependent on the prior expression of the gap and pair-rule segmentation genes for its inception and on an autogenous regulatory element upstream of the Dfd transcription initiation site for the maintenance of Dfd expression into the later stages of embryogenesis. Immunostaining of imaginal discs shows Dfd- positive cells in the peripodial membrane of the eye-antennal discs with no detectable accumulation in the disc proper. There are also a few cells in the stalk of the labial discs which appear to accumulate Dfd protein. The Dfd cDNA driven by a heat shock promotor has been returned to flies and used to ectopically express Dfd protein. Animals carrying this construct subjected to heat shock produce ectopic mouth hooks and maxillary cirri in the ventral aspect of their thoracic segments, two structures missing in Dfd- animals. There is no phenotypic affect on abdominal pattern; however, head development is severely disrupted in heat-pulsed animals.
Gene Model and Products
Number of Transcripts
1
Number of Unique Polypeptides
1

Please see the GBrowse view of Dmel\Dfd or the JBrowse view of Dmel\Dfd for information on other features

To submit a correction to a gene model please use the Contact FlyBase form

Protein Domains (via Pfam)
Isoform displayed:
Pfam protein domains
InterPro name
classification
start
end
Protein Domains (via SMART)
Isoform displayed:
SMART protein domains
InterPro name
classification
start
end
Comments on Gene Model
Gene model reviewed during 5.49
Sequence Ontology: Class of Gene
Transcript Data
Annotated Transcripts
Name
FlyBase ID
RefSeq ID
Length (nt)
Assoc. CDS (aa)
FBtr0081621
2739
586
Additional Transcript Data and Comments
Reported size (kB)
2.8 (northern blot)
Comments
External Data
Crossreferences
Polypeptide Data
Annotated Polypeptides
Name
FlyBase ID
Predicted MW (kDa)
Length (aa)
Theoretical pI
RefSeq ID
GenBank
FBpp0081138
63.4
586
6.92
Polypeptides with Identical Sequences

There is only one protein coding transcript and one polypeptide associated with this gene

Additional Polypeptide Data and Comments
Reported size (kDa)
586 (aa); 64 (kD predicted)
Comments
External Data
Linkouts
Sequences Consistent with the Gene Model
Mapped Features

Click to get a list of regulatory features (enhancers, TFBS, etc.) and gene disruptions (point mutations, indels, etc.) within or overlapping Dmel\Dfd using the Feature Mapper tool.

External Data
Crossreferences
Linkouts
Gene Ontology (18 terms)
Molecular Function (7 terms)
Terms Based on Experimental Evidence (6 terms)
CV Term
Evidence
References
Terms Based on Predictions or Assertions (3 terms)
CV Term
Evidence
References
inferred from biological aspect of ancestor with PANTHER:PTN002518650
(assigned by GO_Central )
inferred from biological aspect of ancestor with PANTHER:PTN002518650
(assigned by GO_Central )
inferred from biological aspect of ancestor with PANTHER:PTN002518650
(assigned by GO_Central )
Biological Process (10 terms)
Terms Based on Experimental Evidence (9 terms)
CV Term
Evidence
References
Terms Based on Predictions or Assertions (1 term)
CV Term
Evidence
References
inferred from biological aspect of ancestor with PANTHER:PTN002518650
(assigned by GO_Central )
Cellular Component (1 term)
Terms Based on Experimental Evidence (1 term)
CV Term
Evidence
References
Terms Based on Predictions or Assertions (1 term)
CV Term
Evidence
References
inferred from biological aspect of ancestor with PANTHER:PTN002518650
(assigned by GO_Central )
Expression Data
Transcript Expression
No Assay Recorded
Stage
Tissue/Position (including subcellular localization)
Reference
in situ
Stage
Tissue/Position (including subcellular localization)
Reference
radioisotope in situ
Stage
Tissue/Position (including subcellular localization)
Reference
Additional Descriptive Data
Dfd transcripts are detected in a small patch of cells in the posterior part of the labial segment, and, in some cases, in the posterior part of the prothoracic segment in Scr tsh mutants.
The distribution of transcripts appears to be unaffected by mutations in the tsh gene.
During the cellular blastoderm stage, Dfd transcripts are located in a 6-7 cell-wide band at 65-75% egg length which includes parasegment 1. In stages 9,10, before the gnathal buds form, Dfd is expressed in parasegment 1 and the region anterior to it and is found in both ecotodermal and mesodermal cells. By stage 11, Dfd is expressed in the mandibular and maxillary buds. Expression anterior to PS1 has declined and Dfd expression defines parasegment 1. Neural derivatives of PS1 also express Dfd transcripts. The Dfd pattern established by stage 11 persists until hatching. In larvae, transcripts are observed in the eye-antennal disc in the region corresponding to the primordium of the maxillary palp and in the peripodial membrane.
Marker for
 
Subcellular Localization
CV Term
Polypeptide Expression
immunolocalization
Stage
Tissue/Position (including subcellular localization)
Reference
Additional Descriptive Data
The circumferential stripe of Dfd protein expression in the anterior blastoderm is posterior and adjacent to the stripe of ems protein expression.
Dfd protein is first detected in cellular blastoderm embryos in a 6 cell wide stripe encircling the embryo. Early in gastrulation, some of these Dfd-expressing cells invaginate to form the cephalic furrow. Before full germ band extension, a differential posterior border of Dfd expression occurs. The lateral expression boundary extends 2-3 cells farther posteriorly than the ventral boundary. The lateral boundary appears to mark the future outlines of the maxillary segment while the ventral expression boundary corresponds to the parasegment 1 boundary. By stage 11, Dfd protein expression is mainly confined to the maxillary and mandibular segments laterally and to parasegments 0 and 1 ventrally. There is also some ventral expression in the hypopharyngeal lobe. As the germ band retracts, only cells in the lateral half of the mandibular segment and at the posterior border of the maxillary segment continue to express Dfd protein. At this stage some Dfd protein is observed on the dorsal surface in one or two rows at the anterior portion of the dorsal ridge.
Marker for
 
Subcellular Localization
CV Term
Evidence
References
Expression Deduced from Reporters
Reporter: P{Dfd-lacZ.1xE}
Stage
Tissue/Position (including subcellular localization)
Reference
Reporter: P{Dfd-lacZ.1xF}
Stage
Tissue/Position (including subcellular localization)
Reference
Reporter: P{Dfd-lacZ.4xE5}
Stage
Tissue/Position (including subcellular localization)
Reference
Reporter: P{Dfd-lacZ.4xE6}
Stage
Tissue/Position (including subcellular localization)
Reference
Reporter: P{Dfd-lacZ.4xE}
Stage
Tissue/Position (including subcellular localization)
Reference
Reporter: P{Dfd-lacZ.8x24bp}
Stage
Tissue/Position (including subcellular localization)
Reference
Reporter: P{Dfd-lacZ.C}
Stage
Tissue/Position (including subcellular localization)
Reference
Reporter: P{HZ0.6}
Stage
Tissue/Position (including subcellular localization)
Reference
Reporter: P{HZ2.7}
Stage
Tissue/Position (including subcellular localization)
Reference
Reporter: P{HZ3.2}
Stage
Tissue/Position (including subcellular localization)
Reference
High-Throughput Expression Data
Associated Tools

GBrowse - Visual display of RNA-Seq signals

View Dmel\Dfd in GBrowse 2
RNA-Seq by Region - Search RNA-Seq expression levels by exon or genomic region
Reference
See Gelbart and Emmert, 2013 for analysis details and data files for all genes.
Developmental Proteome: Life Cycle
Developmental Proteome: Embryogenesis
External Data and Images
Linkouts
BDGP expression data - Patterns of gene expression in Drosophila embryogenesis
FLIGHT - Cell culture data for RNAi and other high-throughput technologies
FlyAtlas - Adult expression by tissue, using Affymetrix Dros2 array
Flygut - An atlas of the Drosophila adult midgut
Images
Alleles, Insertions, Transgenic Constructs and Phenotypes
Classical and Insertion Alleles ( 31 )
For All Classical and Insertion Alleles Show
 
Allele of Dfd
Class
Mutagen
Associated Insertion
Stocks
Known lesion
    0
    --
    Other relevant insertions
    Transgenic Constructs ( 23 )
    For All Alleles Carried on Transgenic Constructs Show
    Transgenic constructs containing/affecting coding region of Dfd
    Allele of Dfd
    Mutagen
    Associated Transgenic Construct
    Stocks
    Transgenic constructs containing regulatory region of Dfd
    vital-reporter construct
    Name
    Expression Data
    UAS construct
    Name
    Expression Data
    reporter construct
    Name
    Expression Data
    Deletions and Duplications ( 42 )
    Partially duplicated in
    Summary of Phenotypes
    For more details about a specific phenotype click on the relevant allele symbol.
    Lethality
    Allele
    Other Phenotypes
    Allele
    Phenotype manifest in
    Allele
    abdominal segment & embryonic/first instar larval cuticle, with Scer\GAL4prd.RG1
    embryonic gastric caecum & parasegment 3, with Scer\GAL4how-24B
    embryonic thoracic segment & embryonic/first instar larval cuticle, with Scer\GAL4prd.RG1
    Orthologs
    Human Orthologs (via DIOPT v7.1)
    Homo sapiens (Human) (32)
    Species\Gene Symbol
    Score
    Best Score
    Best Reverse Score
    Alignment
    Complementation?
    Transgene?
    6 of 15
    Yes
    Yes
    5 of 15
    No
    Yes
    5 of 15
    No
    Yes
    5 of 15
    No
    Yes
     
    3 of 15
    No
    No
     
    3 of 15
    No
    No
     
    3 of 15
    No
    No
    3 of 15
    No
    Yes
    2 of 15
    No
    No
    2 of 15
    No
    No
    2 of 15
    No
    No
    2 of 15
    No
    No
    2 of 15
    No
    No
    2 of 15
    No
    No
    2 of 15
    No
    No
    2 of 15
    No
    No
     
    1 of 15
    No
    No
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    No
    No
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    No
    No
    1 of 15
    No
    No
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    No
    No
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    No
    No
     
    1 of 15
    No
    No
    1 of 15
    No
    No
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    No
    No
     
    1 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
     
    1 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
    Model Organism Orthologs (via DIOPT v7.1)
    Mus musculus (laboratory mouse) (31)
    Species\Gene Symbol
    Score
    Best Score
    Best Reverse Score
    Alignment
    Complementation?
    Transgene?
    6 of 15
    Yes
    Yes
    6 of 15
    Yes
    Yes
     
    6 of 15
    Yes
    Yes
    5 of 15
    No
    Yes
    3 of 15
    No
    No
     
    3 of 15
    No
    No
    3 of 15
    No
    No
    2 of 15
    No
    No
    2 of 15
    No
    No
     
    2 of 15
    No
    No
     
    2 of 15
    No
    No
    2 of 15
    No
    No
    2 of 15
    No
    No
    2 of 15
    No
    No
    2 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
     
    1 of 15
    No
    No
    1 of 15
    No
    No
     
    1 of 15
    No
    No
    1 of 15
    No
    No
     
    1 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
    Rattus norvegicus (Norway rat) (35)
    5 of 13
    Yes
    Yes
    5 of 13
    Yes
    Yes
    5 of 13
    Yes
    Yes
    4 of 13
    No
    Yes
    3 of 13
    No
    No
    3 of 13
    No
    No
    3 of 13
    No
    Yes
    2 of 13
    No
    No
    2 of 13
    No
    No
    2 of 13
    No
    No
    2 of 13
    No
    No
    2 of 13
    No
    No
    2 of 13
    No
    No
    2 of 13
    No
    No
    2 of 13
    No
    Yes
    2 of 13
    No
    No
    1 of 13
    No
    No
    1 of 13
    No
    No
    1 of 13
    No
    No
    1 of 13
    No
    No
    1 of 13
    No
    No
    1 of 13
    No
    No
    1 of 13
    No
    No
    1 of 13
    No
    No
    1 of 13
    No
    No
    1 of 13
    No
    No
    1 of 13
    No
    No
    1 of 13
    No
    No
    1 of 13
    No
    No
    1 of 13
    No
    No
    1 of 13
    No
    No
    1 of 13
    No
    No
    1 of 13
    No
    No
    1 of 13
    No
    No
    Xenopus tropicalis (Western clawed frog) (29)
    5 of 12
    Yes
    Yes
    3 of 12
    No
    No
    3 of 12
    No
    No
    2 of 12
    No
    No
    2 of 12
    No
    No
    2 of 12
    No
    No
    2 of 12
    No
    No
    2 of 12
    No
    Yes
    2 of 12
    No
    No
    2 of 12
    No
    No
    1 of 12
    No
    No
    1 of 12
    No
    No
    1 of 12
    No
    No
    1 of 12
    No
    No
    1 of 12
    No
    No
    1 of 12
    No
    No
    1 of 12
    No
    No
    1 of 12
    No
    No
    1 of 12
    No
    No
    1 of 12
    No
    No
    1 of 12
    No
    No
    1 of 12
    No
    No
    1 of 12
    No
    No
    1 of 12
    No
    No
    1 of 12
    No
    No
    1 of 12
    No
    No
    1 of 12
    No
    No
    1 of 12
    No
    No
    1 of 12
    No
    No
    Danio rerio (Zebrafish) (37)
    6 of 15
    Yes
    Yes
    6 of 15
    Yes
    Yes
    5 of 15
    No
    Yes
    3 of 15
    No
    Yes
    3 of 15
    No
    No
    3 of 15
    No
    Yes
    3 of 15
    No
    No
    3 of 15
    No
    No
    2 of 15
    No
    No
    2 of 15
    No
    No
    2 of 15
    No
    No
    2 of 15
    No
    No
    2 of 15
    No
    No
    2 of 15
    No
    No
    2 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
     
    1 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
    Caenorhabditis elegans (Nematode, roundworm) (9)
    5 of 15
    Yes
    No
    3 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
     
    1 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
    1 of 15
    No
    No
    Arabidopsis thaliana (thale-cress) (0)
    No orthologs reported.
    Saccharomyces cerevisiae (Brewer's yeast) (2)
    1 of 15
    Yes
    Yes
    1 of 15
    Yes
    No
    Schizosaccharomyces pombe (Fission yeast) (0)
    No orthologs reported.
    Orthologs in Drosophila Species (via OrthoDB v9.1) ( EOG09190A7K )
    Organism
    Common Name
    Gene
    AAA Syntenic Ortholog
    Multiple Dmel Genes in this Orthologous Group
    Drosophila melanogaster
    fruit fly
    Drosophila suzukii
    Spotted wing Drosophila
    Drosophila suzukii
    Spotted wing Drosophila
    Drosophila simulans
    Drosophila sechellia
    Drosophila erecta
    Drosophila yakuba
    Drosophila ananassae
    Drosophila pseudoobscura pseudoobscura
    Drosophila persimilis
    Drosophila willistoni
    Drosophila virilis
    Drosophila mojavensis
    Drosophila grimshawi
    Orthologs in non-Drosophila Dipterans (via OrthoDB v9.1) ( EOG09150EFO )
    Organism
    Common Name
    Gene
    Multiple Dmel Genes in this Orthologous Group
    Musca domestica
    House fly
    Glossina morsitans
    Tsetse fly
    Lucilia cuprina
    Australian sheep blowfly
    Mayetiola destructor
    Hessian fly
    Aedes aegypti
    Yellow fever mosquito
    Anopheles gambiae
    Malaria mosquito
    Culex quinquefasciatus
    Southern house mosquito
    Culex quinquefasciatus
    Southern house mosquito
    Orthologs in non-Dipteran Insects (via OrthoDB v9.1) ( EOG090W07O8 )
    Organism
    Common Name
    Gene
    Multiple Dmel Genes in this Orthologous Group
    Bombyx mori
    Silkmoth
    Bombyx mori
    Silkmoth
    Danaus plexippus
    Monarch butterfly
    Heliconius melpomene
    Postman butterfly
    Apis florea
    Little honeybee
    Apis mellifera
    Western honey bee
    Bombus impatiens
    Common eastern bumble bee
    Bombus terrestris
    Buff-tailed bumblebee
    Linepithema humile
    Argentine ant
    Megachile rotundata
    Alfalfa leafcutting bee
    Nasonia vitripennis
    Parasitic wasp
    Dendroctonus ponderosae
    Mountain pine beetle
    Tribolium castaneum
    Red flour beetle
    Pediculus humanus
    Human body louse
    Rhodnius prolixus
    Kissing bug
    Cimex lectularius
    Bed bug
    Acyrthosiphon pisum
    Pea aphid
    Zootermopsis nevadensis
    Nevada dampwood termite
    Orthologs in non-Insect Arthropods (via OrthoDB v9.1) ( EOG090X07JD )
    Organism
    Common Name
    Gene
    Multiple Dmel Genes in this Orthologous Group
    Strigamia maritima
    European centipede
    Strigamia maritima
    European centipede
    Ixodes scapularis
    Black-legged tick
    Stegodyphus mimosarum
    African social velvet spider
    Stegodyphus mimosarum
    African social velvet spider
    Tetranychus urticae
    Two-spotted spider mite
    Daphnia pulex
    Water flea
    Orthologs in non-Arthropod Metazoa (via OrthoDB v9.1) ( EOG091G09XD )
    Organism
    Common Name
    Gene
    Multiple Dmel Genes in this Orthologous Group
    Strongylocentrotus purpuratus
    Purple sea urchin
    Strongylocentrotus purpuratus
    Purple sea urchin
    Strongylocentrotus purpuratus
    Purple sea urchin
    Ciona intestinalis
    Vase tunicate
    Ciona intestinalis
    Vase tunicate
    Ciona intestinalis
    Vase tunicate
    Gallus gallus
    Domestic chicken
    Gallus gallus
    Domestic chicken
    Gallus gallus
    Domestic chicken
    Gallus gallus
    Domestic chicken
    Gallus gallus
    Domestic chicken
    Gallus gallus
    Domestic chicken
    Gallus gallus
    Domestic chicken
    Gallus gallus
    Domestic chicken
    Gallus gallus
    Domestic chicken
    Gallus gallus
    Domestic chicken
    Gallus gallus
    Domestic chicken
    Gallus gallus
    Domestic chicken
    Gallus gallus
    Domestic chicken
    Gallus gallus
    Domestic chicken
    Gallus gallus
    Domestic chicken
    Gallus gallus
    Domestic chicken
    Gallus gallus
    Domestic chicken
    Gallus gallus
    Domestic chicken
    Human Disease Model Data
    FlyBase Human Disease Model Reports
      Alleles Reported to Model Human Disease (Disease Ontology)
      Download
      Models ( 0 )
      Allele
      Disease
      Evidence
      References
      Interactions ( 0 )
      Allele
      Disease
      Interaction
      References
      Comments ( 0 )
       
      Human Orthologs (via DIOPT v7.1)
      Note that ortholog calls supported by only 1 or 2 algorithms (DIOPT score < 3) are not shown.
      Homo sapiens (Human)
      Gene name
      Score
      OMIM
      OMIM Phenotype
      Complementation?
      Transgene?
      Functional Complementation Data
      Functional complementation data is computed by FlyBase using a combination of the orthology data obtained from DIOPT and OrthoDB and the allele-level genetic interaction data curated from the literature.
      Interactions
      Summary of Physical Interactions
      esyN Network Diagram
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      Protein
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      Selected Interactor(s)
      Interactions Browser

      Please look at the Interaction Group reports for full details of the physical interactions
      protein-protein
      Interacting group
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      References
      Summary of Genetic Interactions
      esyN Network Diagram
      esyN Network Key:
      Suppression
      Enhancement

      Please look at the allele data for full details of the genetic interactions
      Starting gene(s)
      Interaction type
      Interacting gene(s)
      Reference
      suppressible
      enhanceable
      Starting gene(s)
      Interaction type
      Interacting gene(s)
      Reference
      External Data
      Linkouts
      BioGRID - A database of protein and genetic interactions.
      DroID - A comprehensive database of gene and protein interactions.
      InterologFinder - Protein-protein interactions (PPI) from both known and predicted PPI data sets.
      Pathways
      Gene Group - Pathway Membership (FlyBase)
      External Data
      Linkouts
      Genomic Location and Detailed Mapping Data
      Chromosome (arm)
      3R
      Recombination map
      3-48
      Cytogenetic map
      Sequence location
      3R:6,791,836..6,802,428 [+]
      FlyBase Computed Cytological Location
      Cytogenetic map
      Evidence for location
      84A5-84A5
      Limits computationally determined from genome sequence between P{PZ}pb04498 and P{lacW}l(3)L2100L2100
      Experimentally Determined Cytological Location
      Cytogenetic map
      Notes
      References
      84A-84B
      (determined by in situ hybridisation)
      Experimentally Determined Recombination Data
      Location
      3-47.5
      Left of (cM)
      Right of (cM)
      Notes
      Stocks and Reagents
      Stocks (41)
      Genomic Clones (40)
      cDNA Clones (4)
       

      Please Note This section lists cDNAs and ESTs that fall within the genomic extent of the gene model, which may include cDNAs and ESTs of genes within introns, or of overlapping genes. Please see GBrowse for alignment of the cDNAs and ESTs to the gene model.

      cDNA clones, fully sequences
      BDGP DGC clones
      Other clones
        Drosophila Genomics Resource Center cDNA clones

        For each fully sequenced cDNA the DGRC maintains various forms of the cDNA (e.g tagged or untagged) in several different host vectors for subsequent cloning and expression in Drosophila and Drosophila cell lines.

        cDNA Clones, End Sequenced (ESTs)
        BDGP DGC clones
          RNAi and Array Information
          Linkouts
          DRSC - Results frm RNAi screens
          GenomeRNAi - A database for cell-based and in vivo RNAi phenotypes and reagents
          Antibody Information
          Laboratory Generated Antibodies
           
          polyclonal
          Commercially Available Antibodies
           
          Other Information
          Relationship to Other Genes
          Source for database identify of
          Source for identity of: Dfd CG2189
          Source for database merge of
          Additional comments
          Other Comments
          Dfd maintains the boundary between the maxillary and mandibular head lobes by activating localised apoptosis in the embryo.
          Dfd protein can interact with simple DNA-binding sites in embryos in the absence of exd protein, but this binding is not sufficient for transcriptional activation of reporter genes.
          Dfd is required for neuronal differentiation in the developing embryonic brain.
          In vitro DNA-binding studies reveal pros enhances Dfd regulatory region binding to DNA by more than 10-fold. pros protein modulates the DNA binding activity of Dfd by pros-mediated conformational changes.
          Effects of overexpression of ANTP-C genes on tarsal segmentation in ss mutants is studied.
          Water activity differentially affects Dfd homeodomain and Ubx homeodomain DNA binding activity: formation of the Ubx HD-DNA complex is associated with significantly greater water release than that of the Dfd HD-DNA complex. No influence of pH in water release was detected for either homeodomain. Chimeric Ubx-Dfd homeodomains demonstrates the C terminal region of the Ubx HD is the primary determinant for the greater water release associated with DNA binding for the protein.
          Module E, a 120bp fragment of the Dfd epidermal autoregulatory element, contains a 51bp region, called 5-6, that is required to generate a functional Dfd response element, Dfd RE. Deaf1 acts through Module E in embryos and may function on other Dfd REs also.
          DNA binding properties of Ubx and Dfd homeodomains are differentially influenced by alterations in physical environment.
          A phylogenetic analysis of the Antp-class of homeodomains in nematode, Drosophila, amphioxus, mouse and human indicates that the 13 cognate group genes of this family can be divided into two major groups. Genes that are phylogenetically close are also closely located on the chromosome, suggesting that the colinearity between gene expression and gene arrangement was generated by successive tandem gene duplications and that the gene arrangement has been maintained by some sort of selection.
          Transcriptional activity of the N domain of Dfd can be modulated by the acidic and C-tail domains.
          It has been previously reported that Scr embryos display partial transformation of the labial segment to a more anterior maxillary identity. This transformation seems unusual because the Dfd protein does not accumulate in the labial cells of an Scr mutant. It is proposed that the putative ectopic maxillary sense organ in Scr mutants may instead be the labial sensory organ which is now visible because of incomplete head involution.
          Dfd is spliced by two alternative pathways in neural and epidermal tissue.
          Analysis of Dfd-Ecol\lacZ constructs indicates that the large intron of Dfd contains an enhancer that directs expression in the central nervous system. This 'Neural autoregulatory enhancer' (NAE) requires Dfd protein function for its full activity.
          The 1.28 gene is directly activated by Dfd in the maxillary segment but not in the mandibular segment. Four Dfd-product binding sites have been identified within a 664bp fragment of the 1.28 regulatory region, in addition to a Dfd epidermal autoactivation element (DEAE).
          In vitro DNA binding studies indicate that Dfd product affinity for the 120bp Dfd epidermal element is markedly enhanced when exd protein is added to the binding reaction.
          ImpE1 and Dfd have been examined for their positions relative to the Broad complex genes in the hormone-regulated pathway of CNS metamorphosis. Dfd mutants manifest a defect in subesophageal ganglion metamorphosis, but expression of Dfd in the CNS is indifferent to 20HE levels.
          Systematic characterisation of DNA sequence recognition properties reveals that Antp, Ubx and Dfd protein homeodomain regions binds preferentially to a core sequence which differs from the binding sequence of Abd-B. Antp and Ubx homeodomains display indistinguishable preferences outside the core, while Ubx differs.
          Suboesophageal ganglion (SEG) maturation during metamorphosis has a significant postembryonic requirement for Dfd.
          The 2.7kb Dfd epidermal autoregulatory element (Dfd EAE) contains multiple modules that can function independently. Module E is a 120bp autoregulatory sequence, in vitro footprinting experiments detect a single Dfd binding site that is likely to be directly bound by Dfd protein in the developing embryo. A nearby block of DNA sequence contains functionally important cofactor binding sites.
          trx exerts its effects by positively regulating homeotic gene expression, but Ubx, Antp, abd-A, Abd-B, Scr and Dfd all have different tissue-specific, parasegment-specific and promoter-specific reductions in expression in a trx mutant background.
          Dfd is required to activate the 1.28 gene in the maxillary segment, but ectopic expression of Dfd is incapable of activating 1.28 elsewhere.
          Dfd and Ba are both persistently expressed in ventral maxillary cells, and combinatorially specify a subsegmental code required for a group of cells to differentiate maxillary cirri. The regulatory effect of Dfd on Ba is mediated by a ventral maxillary-specific enhancer located 3' to the Ba transcription unit.
          The homologs of Antp, ftz, Scr, Dfd, Ama, bcd, zen, pb and lab, but not zen2 are all present in D.pseudoobscura.pseudoobscura, in the same linear order and similarly spaced along the chromosome as in D.melanogaster.
          Comparative analysis of the homeobox sequences reveals the subdivision of the Antp-type homeobox genes into three classes early in metazoan evolution, one includes Abd-B, the second includes abd-A, Ubx, Antp, Scr, Dfd and ftz, and the third includes zen, zen2, pb and lab.
          The Dfd autoregulatory enhancer provides spatio-temporally restricted gene expression in the CNS of mid-gestation mouse embryos. The Dfd autoregulatory feed back loop has been conserved in the vertebrate and arthropod lineages.
          Immunoprecipitation and filter elution assays identified a 900 bp autoregulatory element that specifically binds Dfd protein in embryos. Homeodomain exchange experiments demonstrated that the Dfd homeodomain interacts with the Antp transcription unit.
          Dfd homeodomain binds optimally to a distinct DNA sequence.
          Ectopic expression of Dfd activates Dfd expression in a subset of cells in different segments. These cells belong to the anterior compartments of the three thoracic and A1 to A8 abdominal segments, and the Dfd expression requires wild type wg and en expression. Indeed wg product can activate Dfd in many embryonic cells. Scr, Antp, Ubx and Abd-B repress Dfd both transcriptionally and at the phenotypic level, as does abd-A when supplied at high levels with a heat shock construct.
          The effect of ectopic expression of Dfd was investigated on the normal development of sensory organs in the embryonic PNS.
          Analysis of Dfd-Ubx chimeric coding regions identifies specific amino acid residues at the amino end of the Ubx homeo domain that are required to specifically regulate Antp transcription. In the context of Dfd protein, these amino-end residues are sufficient to switch from Dfd- to Ubx-like targeting specificity.
          Ecol\lacZ reporter gene constructs demonstrate that human Hox4B upstream element can provide expression in a posterior head segment. One possible mechanism that would allow this is the conservation of the Dfd specific autoregulatory circuit in both the arthropod and chordate lineages.
          Dfd gene product is not required for salivary gland development, at least up until the cuticle forms.
          ae expression is not modulated by Dfd.
          The roles of Dfd and lab have been studied through an analysis of their expression patterns in embryonic and imaginal tissues of mutant individuals.
          Dfd and Ubx transcript patterns remain unaltered in tsh- embryos.
          DNA binding assays demonstrate that there is a direct interaction between Dfd protein and the Dfd autoregulatory element.
          Deletion analysis of the Dfd autoregulatory element, using a Ecol\lacZ reporter gene, demonstrates that the element contains compartment specific sub-elements similar to those of other homeotic loci.
          Ectopic Dfd expression in the eye-antennal disc can disrupt the normal development of the head but has no detectable effect on the thoracic or abdominal segments.
          Mutant analysis demonstrates that activation of Dfd is dependent on combinatorial input from at least three levels of early hierarchy.
          Dfd- flies have defects in embryonic and larval heads: development of ectopic structures. Temperature shift studies demonstrate Dfd is required during segmentation and head involution, and during late larval and pupal stages.
          The substitution of the Abd-B homeodomain for that of Dfd results in a protein that differs from the Dfd protein at only 30 residues so providing a different spectrum of regulatory targets. Dfd expression domain was normal in heat shocked embryos expressing the chimeric gene but transcript levels were low resulting in weak, patchy patterns.
          Hsap\HOXD4 can specifically substitute for a normal regulatory function of its Drosophila homologue Dfd.
          A modification and reduction in en and Dfd protein distribution is seen in mutant cad embryos.
          The role of the homeodomain in determining target specificity has been tested by replacing the homeobox of Dfd with that of Ubx. The resulting chimeric protein cannot activate transcription from Dfd but can activate ectopic transcription of Antp, a gene normally regulated by Ubx.
          Dfd expression is dependent on pair rule genes and at least two other factors that are differentially distributed along both the anterior posterior and dorsal ventral axis.
          Dfd protein autoactivates expression from the Dfd locus during normal development.
          Dfd transcript distribution supports the hypothesis that Dfd functions as a homeotic selector gene in the determination of posterior head segments.
          The DNA sequences of the homeobox region of 11 Drosophila genes, including Dfd, have been compared.
          The Dfd mutant maxillary palp phenotype can be attributed to cell death and subsequent duplication of bristles, but the mandibular and premandibular defects of the embryonic head cannot. Temperature shift experiments demonstrate that Dfd is required throughout the larval and pupal stages.
          Null mutations act as recessive lethals. Homozygous or hemizygous animals die at the end of embryogenesis and show a spectrum of defects in the head. There are no discernible defects in the trunk. The head defects are associated with missing structures normally derived from the mandibular and maxillary segments, the dorsal lateral papillae of the maxillary sense organ, the mouth hooks, and the maxillary cirri. The remaining gnathal structures are present albeit disarranged likely due to abnormalities in the movements associated with head involution. A weak homeotic transformation (30-50% penetrance) has also been noted in animals hemizygous for a breakpoint-associated revertant of the single dominant gain-of-function allele (Dfdrv1). The phenotype is an apparent transformation of the H piece and lateral-graten which appear to be replaced by cephalopharyngeal plates. This phenotype has not been observed in any other mutant genotype and the reason for its low-penetrance production by this particular allele is not known. X-ray-induced somatic clones of Dfd- cells have shown that the locus is also required for adult head development. These cells develop normally in the thorax and abdomen but do not form structures in the ventral anterior aspect of the head; specifically the vibrissae and maxillary palps. Clones in the dorsal posterior part of the head form ectopic bristles which have been interpreted as a head to thoracic transformation. A temperature-conditional allele has been used to define two temperature-critical periods for Dfd+ activity. The first is during embryogenesis during segmentation and head involution, while the second occurs in the late third instar larval through mid-pupal stages. These times correlate nicely with the observed cuticular defects in mutant animals and the times of peak gene product accumulation. There is a single dominant gain-of-function allele which causes defects in the ventral aspects of the adult head similar to those seen in the Dfd- head clones mentioned above. There are no defects seen in the posterior of the head nor does this allele cause any embryonic or larval defects as a heterozygote, homozygote, or hemizygote. This allele is associated with a group of roo insertion elements (ca. 50 kb of inserted DNA) as well as a duplication of the 3' exons of the Dfd transcription unit. The mutant causes an extended spatial domain of expression of the locus into the eye portion of the eye-antennal disc as compared to the pattern seen in normal animals. The precise cause-effect relationship between the observed molecular defect and the mutant phenotype is not known except that partial deletion of the roo elements but not the 3' end duplication causes a reversion of the dominant phenotype and has no apparent effect on the wild type function of the resident Dfd gene. This dominant allele has been reverted and these revertants act as a simple recessive loss-of-function alleles with the one exception noted above. The Dfd transcript is initially detected at the blastoderm stage in a band of cells at the position of the future cephalic furrow. This RNA shows maximal accumulation from 6-12 hours of embryogenesis when it is found in the mandibular and maxillary lobes, as well as in the subesophageal region of the CNS. The amount of Dfd RNA diminishes through the first and second larval instars and peaks again during the third instar. At this point, it is found in the peripodial membrane cells of the eye-antennal discs. The cells which accumulate the RNA are those which have been fate mapped to give rise to the adult-head-capsule structures which are defective in Dfd- clones. Antibodies raised to Dfd protein have shown a similar pattern of accumulation to that seen for the RNA. The protein is first detected in cellular blastoderm stage in a stripe of six cells which circumscribes the embryo. As germ-band elongation proceeds and segmentation becomes evident Dfd protein is detected in the mandibular and maxillary lobes and a portion of the dorsal ridge. During germ-band shortening protein is no longer detectable in the mandibular lobe or in the anterior lateral aspect of the maxillary lobe. The process of head involution carries the Dfd-expressing cells interiorly where they are found in portions of the pharynx at the end of embryogenesis. Dfd-positive cells are also found in the subesophageal region of the CNS in the maxillary ganglion. This expression pattern has been shown to be dependent on the prior expression of the gap and pair-rule segmentation genes for its inception and on an autogenous regulatory element upstream of the Dfd transcription initiation site for the maintenance of Dfd expression into the later stages of embryogenesis. Immunostaining of imaginal discs shows Dfd-positive cells in the peripodial membrane of the eye-antennal discs with no detectable accumulation in the disc proper. There are also a few cells in the stalk of the labial discs which appear to accumulate Dfd protein. The Dfd cDNA driven by a heat shock promoter has been returned to flies and used to ectopi
          Origin and Etymology
          Discoverer
          Etymology
          Identification
          External Crossreferences and Linkouts ( 33 )
          Crossreferences
          NCBI Gene - Gene integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.
          GenBank Nucleotide - A collection of sequences from several sources, including GenBank, RefSeq, TPA, and PDB.
          GenBank Protein - A collection of sequences from several sources, including translations from annotated coding regions in GenBank, RefSeq and TPA, as well as records from SwissProt, PIR, PRF, and PDB.
          RefSeq - A comprehensive, integrated, non-redundant, well-annotated set of reference sequences including genomic, transcript, and protein.
          UniProt/Swiss-Prot - Manually annotated and reviewed records of protein sequence and functional information
          Linkouts
          BioGRID - A database of protein and genetic interactions.
          Drosophila Genomics Resource Center - Drosophila Genomics Resource Center cDNA clones
          DroID - A comprehensive database of gene and protein interactions.
          DRSC - Results frm RNAi screens
          FLIGHT - Cell culture data for RNAi and other high-throughput technologies
          FlyAtlas - Adult expression by tissue, using Affymetrix Dros2 array
          Flygut - An atlas of the Drosophila adult midgut
          FlyMine - An integrated database for Drosophila genomics
          GenomeRNAi - A database for cell-based and in vivo RNAi phenotypes and reagents
          iBeetle-Base - RNAi phenotypes in the red flour beetle (Tribolium castaneum)
          Interactive Fly - A cyberspace guide to Drosophila development and metazoan evolution
          InterologFinder - Protein-protein interactions (PPI) from both known and predicted PPI data sets.
          KEGG Genes - Molecular building blocks of life in the genomic space.
          modMine - A data warehouse for the modENCODE project
          Synonyms and Secondary IDs (10)
          Reported As
          Symbol Synonym
          BG:DS00276.5
          Dfd
          (Anreiter and Sokolowski, 2018, Rastogi et al., 2018, Zhu et al., 2018, Ambrosini et al., 2017, Batut and Gingeras, 2017, Kline et al., 2017, Requena et al., 2017, Transgenic RNAi Project members, 2017-, Becker et al., 2016, Beh et al., 2016, Bürglin and Affolter, 2016, Friedrich et al., 2016, Loboda et al., 2016, Niwa and Niwa, 2016, Peng et al., 2016, Pinto-Teixeira et al., 2016, Urbach et al., 2016, Wani et al., 2016, Zandvakili and Gebelein, 2016, Schertel et al., 2015, Banreti et al., 2014, Boube et al., 2014, Boyle et al., 2014, Sánchez-Higueras et al., 2014, Slattery et al., 2014, Baek et al., 2013, Heffer and Pick, 2013, Mallo and Alonso, 2013, Merabet and Hudry, 2013, Naval-Sánchez et al., 2013, Saunders et al., 2013, Japanese National Institute of Genetics, 2012.5.21, Stultz et al., 2012, Weiss et al., 2012, Anderson et al., 2011, Bantignies et al., 2011, Gehring, 2011, Lin et al., 2011, Lin et al., 2011, Nègre et al., 2011, Roy et al., 2011, Slattery et al., 2011, Slattery et al., 2011, Hueber et al., 2010, Joshi et al., 2010, Scheuermann et al., 2010, Zhai et al., 2010, Fang et al., 2009, Gambetta et al., 2009, Paré et al., 2009, Stöbe et al., 2009, Tariq et al., 2009, Tchuraev and Galimzyanov, 2009, Venken et al., 2009, Venken et al., 2009, Zhai et al., 2009, Christensen et al., 2008.4.15, Christensen et al., 2008.4.15, Coiffier et al., 2008, Juven-Gershon et al., 2008, Kwong et al., 2008, Lebreton et al., 2008, Noyes et al., 2008, Sanders et al., 2008, Stultz et al., 2008, Tour et al., 2008, Beckett and Baylies, 2007, Beisel et al., 2007, Duboule, 2007, Hueber et al., 2007, Kumar and Anderson, 2007, Negre and Ruiz, 2007, Ogishima and Tanaka, 2007, Roy et al., 2007, Stark et al., 2007, Xing et al., 2007, Zdobnov and Bork, 2007, Wang et al., 2006, Pearson et al., 2005, Percival-Smith et al., 2005, Robertson et al., 2004, Stanyon et al., 2004, Kaufman et al., 2002, Restifo and Hauglum, 1998)
          l(3)84Ae
          Secondary FlyBase IDs
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            References (458)