FB2022_02, released March 29, 2022

Gene: Dmel\caz

Open Close
General Information
Symbol
Dmel\caz
Species
D. melanogaster
Name
cabeza
Annotation Symbol
CG3606
Feature Type
protein_coding_gene
FlyBase ID
FBgn0285954
Gene Model Status
Current
Stock Availability
9 publicly available
Gene Summary
cabeza (caz) encodes a chromatin binding protein involved in locomotion, synaptic growth at the neuromuscular junction and eye development. [Date last reviewed: 2019-03-28] (FlyBase Gene Snapshot)
All Summaries
Also Known As

dFUS, P19, SARFH, Sarcoma-associated RNA-binding fly homolog

Key Links
Genomic Location
Cytogenetic map
14B8-14B9
Sequence location
Recombination map
1-53
RefSeq locus
NC_004354 REGION:16288810..16293520
Sequence
Get Decorated FASTA
Genomic Maps
Other Genome Views
The following external sites may use different assemblies or annotations than FlyBase.
NCBI
UCSC
Ensembl
PopFly
Function
GO Summary Ribbons
Gene Ontology (GO) Annotations (17 terms)
Molecular Function (4 terms)
Terms Based on Experimental Evidence (1 term)
CV Term
Evidence
References
enables chromatin binding
inferred from direct assay
(Mallik et al., 2018)
Terms Based on Predictions or Assertions (3 terms)
CV Term
Evidence
References
enables mRNA binding
inferred from sequence or structural similarity
(Lasko, 2000)
enables RNA binding
inferred from biological aspect of ancestor with PANTHER:PTN000579998
(assigned by GO_Central )
(Gaudet et al., 2011)
enables transcription coregulator activity
inferred from biological aspect of ancestor with PANTHER:PTN000579998
(assigned by GO_Central )
(Gaudet et al., 2011)
Biological Process (8 terms)
Terms Based on Experimental Evidence (5 terms)
CV Term
Evidence
References
involved_in adult locomotory behavior
inferred from mutant phenotype
(Azuma et al., 2018, Xia et al., 2012, Wang et al., 2011)
involved_in compound eye development
inferred from mutant phenotype
(Azuma et al., 2018, Shimamura et al., 2014, Xia et al., 2012)
involved_in larval locomotory behavior
inferred from mutant phenotype
(Xia et al., 2012)
involved_in positive regulation of synaptic assembly at neuromuscular junction
inferred from mutant phenotype
(Azuma et al., 2014)
involved_in synaptic assembly at neuromuscular junction
inferred from mutant phenotype
(Azuma et al., 2014)
Terms Based on Predictions or Assertions (3 terms)
CV Term
Evidence
References
involved_in mRNA splicing, via spliceosome
inferred by curator from GO:0071013
(Herold et al., 2009)
involved_in regulation of transcription, DNA-templated
inferred from electronic annotation with InterPro:IPR034870
(assigned by InterPro )
(FlyBase Curators et al., 2004-)
involved_in transcription initiation from RNA polymerase II promoter
inferred from sequence or structural similarity with HGNC:11545
(Aoyagi and Wassarman, 2000)
Cellular Component (5 terms)
Terms Based on Experimental Evidence (4 terms)
CV Term
Evidence
References
part_of catalytic step 2 spliceosome
inferred from high throughput direct assay
(Herold et al., 2009)
colocalizes_with euchromatin
inferred from direct assay
(Immanuel et al., 1995)
located_in nucleoplasm
inferred from direct assay
(Azuma et al., 2014, Sasayama et al., 2012)
located_in nucleus
inferred from direct assay
(Mallik et al., 2018, Wang et al., 2011, Immanuel et al., 1995)
Terms Based on Predictions or Assertions (2 terms)
CV Term
Evidence
References
is_active_in nucleus
inferred from biological aspect of ancestor with PANTHER:PTN000579998
(assigned by GO_Central )
(Gaudet et al., 2011)
part_of transcription factor TFIID complex
inferred from sequence or structural similarity with HGNC:11545
(Aoyagi and Wassarman, 2000)
Gene Group (FlyBase)
Protein Family (UniProt)
Belongs to the RRM TET family. (Q27294)
Protein Signatures (InterPro)
Summaries
Gene Snapshot
cabeza (caz) encodes a chromatin binding protein involved in locomotion, synaptic growth at the neuromuscular junction and eye development. [Date last reviewed: 2019-03-28]
Gene Group (FlyBase)
TRANSCRIPTION FACTOR II D -
The general transcription factor complex Transcription factor II D (TFIID) plays an important role in recruiting the transcription machinery to core promoters. TFIID is a complex composed of TBP and several TBP-associated factors. (Adapted from FBrf0125116 and FBrf0156065).
Protein Function (UniProtKB)
May participate in a function common to the expression of most genes transcribed by RNA polymerase II.
(UniProt, Q27294)
Gene Model and Products
Number of Transcripts
4
Number of Unique Polypeptides
4

Please see the JBrowse view of Dmel\caz 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
Structure New Section
Protein 3D structure   (Predicted by AlphaFold)   (AlphaFold entry Q27294)

If you don't see the viewer to the right, refresh your browser.
Model Confidence:
  • Very high (pLDDT > 90)
  • Confident (90 > pLDDT > 70)
  • Low (70 > pLDDT > 50)
  • Very low (pLDDT < 50)

AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Some regions with low pLDDT may be unstructured in isolation.

Comments on Gene Model

Variable use of small exon; supported combination results in frameshift and premature stop in downstream exon.

Gene model reviewed during 5.47

Multiphase exon postulated: exon reading frame differs in alternative transcripts; overlap >20aa.

Sequence Ontology: Class of Gene
gene
nuclear_gene
protein_coding_gene
Transcript Data
Annotated Transcripts
Name
FlyBase ID
RefSeq ID
Length (nt)
Assoc. CDS (aa)
caz-RB
FBtr0074217
NM_078641
1666
399
caz-RC
FBtr0334990
NM_167493
1621
384
caz-RD
FBtr0334991
NM_001272672
1534
355
caz-RE
FBtr0334992
NM_001272673
1631
124
Additional Transcript Data and Comments
Reported size (kB)
Comments
External Data
Crossreferences
Polypeptide Data
Annotated Polypeptides
Name
FlyBase ID
Predicted MW (kDa)
Length (aa)
Theoretical pI
RefSeq ID
GenBank
caz-PB
FBpp0073996
38.8
399
9.72
NP_523365
AAN09389
caz-PC
FBpp0307000
37.3
384
9.78
NP_727946
AAF48578
caz-PD
FBpp0307001
34.3
355
9.78
NP_001259601
AGB95443
caz-PE
FBpp0307002
13.7
124
11.71
NP_001259602
AGB95444
Polypeptides with Identical Sequences

None of the polypeptides share 100% sequence identity.

Additional Polypeptide Data and Comments
Reported size (kDa)
Comments
External Data
Crossreferences
InterPro - A database of protein families, domains and functional sites
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\caz using the Feature Mapper tool.

External Data
Crossreferences
Linkouts
Expression Data
Expression Summary Ribbons
Colored tiles in ribbon indicate that expression data has been curated by FlyBase for that anatomical location. Colorless tiles indicate that there is no curated data for that location.
For complete stage-specific expression data, view the modENCODE Development RNA-Seq section under High-Throughput Expression below.
Transcript Expression
in situ
Stage
Tissue/Position (including subcellular localization)
Reference
embryonic stage 1 -- 3
organism

Comment: maternally deposited

(Fisher et al., 2012)
embryonic stage 4 -- 6
organism
(Fisher et al., 2012)
embryonic stage 7 -- 8
organism | ubiquitous
(Fisher et al., 2012)
embryonic stage 9 -- 10
organism | ubiquitous
(Fisher et al., 2012)
embryonic stage 11 -- 12
organism | ubiquitous
(Fisher et al., 2012)
embryonic stage 13 -- 16
organism | ubiquitous
(Fisher et al., 2012)
Additional Descriptive Data
Marker for
 
Subcellular Localization
CV Term
Polypeptide Expression
immunolocalization
Stage
Tissue/Position (including subcellular localization)
Reference
third instar larval stage
embryonic/larval central nervous system
(Sasayama et al., 2012)
adult stage
adult central nervous system
(Sasayama et al., 2012)
mass spectroscopy
Stage
Tissue/Position (including subcellular localization)
Reference
adult stage
adult head
(Aradska et al., 2015)
Additional Descriptive Data
Marker for
 
Subcellular Localization
CV Term
Evidence
References
part_of catalytic step 2 spliceosome
inferred from high throughput direct assay
(Herold et al., 2009)
colocalizes_with euchromatin
inferred from direct assay
(Immanuel et al., 1995)
located_in nucleoplasm
inferred from direct assay
(Azuma et al., 2014, Sasayama et al., 2012)
located_in nucleus
inferred from direct assay
(Mallik et al., 2018, Wang et al., 2011, Immanuel et al., 1995)
Expression Deduced from Reporters
High-Throughput Expression Data
Associated Tools

GBrowse - Visual display of RNA-Seq signals

View Dmel\caz in GBrowse 2
RNA-Seq by Region - Search RNA-Seq expression levels by exon or genomic region
Bulk Downloads
RNA-Seq RPKM values for all genes
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
DRscDB - A single-cell RNA-seq resource for data mining and data comparison across species
EMBL-EBI Single Cell Expression Atlas - Single cell expression across species
FlyAtlas - Adult expression by tissue, using Affymetrix Dros2 array
FlyAtlas2 - A Drosophila melanogaster expression atlas with RNA-Seq, miRNA-Seq and sex-specific data
Images
FlyBase Wiki
Image Based Resources
Alleles, Insertions, Transgenic Constructs, and Aberrations
Classical and Insertion Alleles ( 10 )
For All Classical and Insertion Alleles Show
 
Other relevant insertions
Transgenic Constructs ( 27 )
For All Alleles Carried on Transgenic Constructs Show
Transgenic constructs containing/affecting coding region of caz
Transgenic constructs containing regulatory region of caz
Aberrations (Deficiencies and Duplications) ( 8 )
Alleles Representing Disease-Implicated Variants
Phenotypes
For more details about a specific phenotype click on the relevant allele symbol.
Lethality
Allele
lethal, with Scer\GAL4Act5C.PI
lethal, with Scer\GAL4Act5C.PU
lethal (with caz5g11)
lethal (with caz8b)
lethal (with Df(1)4b18)
lethal | heat sensitive, with Scer\GAL4Toll-6-D42
lethal | pupal stage, with Scer\GAL4Toll-6-D42
lethal | recessive
lethal - all die before end of pupal stage, with Scer\GAL4Act5C.PI
lethal - all die before end of pupal stage, with Scer\GAL4VGlut-OK371
lethal - all die before end of pupal stage | heat sensitive, with Scer\GAL4Act5C.PI
lethal - all die during pupal stage
partially lethal - majority die
partially lethal - majority die, with CG32576+t5.0
partially lethal - majority die | heat sensitive, with Scer\GAL4Act5C.PU
partially lethal - majority die | heat sensitive, with Scer\GAL4elav.PU
partially lethal - majority die | heat sensitive, with Scer\GAL4Toll-6-D42
viable, with Scer\GAL4Act5C.PI
Other Phenotypes
Allele
abnormal circadian rhythm | adult stage, with Scer\GAL4ey-OK107
abnormal eye color, with Scer\GAL4GMR.PF
abnormal flight, with CG32576+t5.0
abnormal locomotor behavior, with CG32576+t5.0
abnormal locomotor behavior, with Scer\FLP1UAS.cDa, Scer\GAL4elav-C155
abnormal locomotor behavior | adult stage
abnormal locomotor behavior | adult stage, with P1\creUAS.cHa, Scer\GAL4elav-C155
abnormal locomotor behavior | adult stage, with Scer\GAL4elav.PLu
abnormal locomotor behavior | adult stage, with Scer\GAL4elav-C155, caz2
abnormal locomotor behavior | adult stage, with Scer\GAL4elav-C155, cazKO
abnormal locomotor behavior | adult stage, with Scer\GAL4elav-C155, cazUAS.x10.Tag:FLAG
abnormal locomotor behavior | adult stage, with Scer\GAL4nSyb.PU
abnormal locomotor behavior | adult stage, with Scer\GAL4nSyb.PU, cazHMS00790
abnormal locomotor behavior | adult stage, with Scer\GAL4nSyb.PU, cazKK107486
abnormal locomotor behavior | adult stage | adult stage, with Scer\GAL4elav.PLu
abnormal locomotor behavior | adult stage | progressive, with Scer\GAL4Toll-6-D42
abnormal locomotor behavior | larval stage
abnormal locomotor behavior | progressive, with Scer\GAL4elav.PLu
abnormal locomotor behavior | third instar larval stage
abnormal locomotor behavior | third instar larval stage, with Scer\GAL4elav.PLu
abnormal locomotor behavior | third instar larval stage, with Scer\GAL4VGlut-OK371
abnormal neuroanatomy, with Scer\GAL4elav.PLu
abnormal neuroanatomy, with Scer\GAL4GMR.PS
abnormal neuroanatomy, with Scer\GAL4RapGAP1-OK6
abnormal neuroanatomy | adult stage | conditional, with Scer\GAL4GMR.PF
abnormal neuroanatomy | third instar larval stage, with Scer\GAL4elav.PLu
abnormal neuroanatomy | third instar larval stage, with Scer\GAL4VGlut-OK371
abnormal neurophysiology, with CG32576+t5.0
abnormal neurophysiology | third instar larval stage, with CG32576+t5.0
abnormal neurophysiology | third instar larval stage, with Scer\GAL4VGlut-OK371
increased cell death, with Scer\GAL4GMR.PS
majority die during P-stage
majority die during P-stage, with Scer\FLP1UAS.cDa, Scer\GAL4elav-C155
short lived, with CG32576+t5.0
short lived, with P1\creUAS.cHa, Scer\GAL4elav-C155
short lived, with Scer\FLP1UAS.cDa, Scer\GAL4elav-C155
short lived, with Scer\GAL4elav.PLu
short lived | adult stage, with Scer\GAL4elav-C155, cazKO
short lived | adult stage, with Scer\GAL4elav-C155, cazUAS.x10.Tag:FLAG
some die during P-stage, with P1\creUAS.cHa, Scer\GAL4elav-C155
some die during pupal stage, with Scer\GAL4VGlut-OK371
some die during pupal stage | heat sensitive, with Scer\GAL4Act5C.PI
uncoordinated | pharate adult stage
visible, with CG32576+t5.0
visible, with Scer\GAL4Bx-MS1096
visible, with Scer\GAL4GMR.PF
visible, with Scer\GAL4GMR.PS
visible | adult stage, with Scer\GAL4Bx-MS1096
visible | adult stage, with Scer\GAL4GMR.PS
visible | adult stage | conditional, with Scer\GAL4GMR.PF
visible | larval stage, with Scer\GAL4GMR.PF
Phenotype manifest in
Allele
abdominal segment motor neuron | third instar larval stage, with Scer\GAL4VGlut-OK371
chaeta, with CG32576+t5.0
cone cell, with Scer\GAL4GMR.PS
embryonic/larval motor neuron | larval stage, with Scer\GAL4elav.PLu
embryonic/larval motor neuron | third instar larval stage
embryonic/larval motor neuron | third instar larval stage, with Scer\GAL4CCAP.PU
embryonic/larval neuromuscular junction | third instar larval stage, with Scer\GAL4elav.PLu
embryonic/larval neuromuscular junction | third instar larval stage, with Scer\GAL4RapGAP1-OK6
embryonic/larval neuromuscular junction | third instar larval stage, with Scer\GAL4VGlut-OK371
eye, with CG32576+t5.0
eye, with Scer\GAL4GMR.PF
eye, with Scer\GAL4GMR.PS
eye | conditional, with Scer\GAL4GMR.PF
eye disc, with Scer\GAL4GMR.PF
interommatidial bristle, with Scer\GAL4GMR.PS
larval ventral nerve cord | third instar larval stage, with Scer\GAL4VGlut-OK371
male genitalia, with CG32576+t5.0
muscle cell of A1-7 ventral longitudinal muscle 3, with Scer\GAL4VGlut-OK371
muscle cell of A1-7 ventral longitudinal muscle 4, with Scer\GAL4VGlut-OK371
NMJ bouton | larval stage, with Scer\GAL4elav.PLu
NMJ bouton | third instar larval stage, with Scer\GAL4elav.PLu
NMJ bouton | third instar larval stage, with Scer\GAL4VGlut-OK371
ommatidium, with Scer\GAL4GMR.PF
ommatidium, with Scer\GAL4GMR.PS
ommatidium | adult stage, with Scer\GAL4GMR.PS
ommatidium | conditional, with Scer\GAL4GMR.PF
wing, with Scer\GAL4Bx-MS1096
wing vein, with CG32576+t5.0
Orthologs
Downloads
Download All DIOPT Orthologs
Human Orthologs (via DIOPT v8.0)
Homo sapiens (Human) (6)
Species\Gene Symbol
Score
Best Score
Best Reverse Score
Source
Compara
eggNOG
Hieranoid
Homologene
Inparanoid
Isobase
OMA
OrthoDB
OrthoFinder
OrthoInspector
orthoMCL
Panther
Phylome
RoundUp
TreeFam
ZFIN
Alignment
Complementation?
Transgene?
Hsap\EWSR1
10 of 15
Yes
Yes
3  
Hsap\FUS
9 of 15
No
Yes
 
76  
Hsap\TAF15
7 of 15
No
Yes
3  
Hsap\CIRBP
1 of 15
No
Yes
Hsap\RBM3
1 of 15
No
Yes
Hsap\ZRANB2
1 of 15
No
No
Model Organism Orthologs (via DIOPT v8.0)
Mus musculus (laboratory mouse) (6)
Species\Gene Symbol
Score
Best Score
Best Reverse Score
Source
Compara
eggNOG
Hieranoid
Homologene
Inparanoid
Isobase
OMA
OrthoDB
OrthoFinder
OrthoInspector
orthoMCL
Panther
Phylome
RoundUp
TreeFam
ZFIN
Alignment
Complementation?
Transgene?
Mmus\Ewsr1
10 of 15
Yes
Yes
Mmus\Fus
9 of 15
No
Yes
Mmus\Taf15
6 of 15
No
Yes
Mmus\Cirbp
1 of 15
No
Yes
Mmus\Rbm3
1 of 15
No
Yes
Mmus\Zranb2
1 of 15
No
No
Rattus norvegicus (Norway rat) (8)
Rnor\Fus
8 of 13
Yes
Yes
Rnor\Ewsr1
6 of 13
No
Yes
Rnor\LOC100912481
5 of 13
No
Yes
Rnor\LOC103694865
4 of 13
No
Yes
Rnor\Taf15
3 of 13
No
Yes
Rnor\Cirbp
1 of 13
No
Yes
Rnor\Rbm3
1 of 13
No
Yes
Rnor\Zranb2
1 of 13
No
No
Xenopus tropicalis (Western clawed frog) (5)
Xtro\ewsr1
9 of 12
Yes
Yes
Xtro\fus
7 of 12
No
Yes
Xtro\taf15
5 of 12
No
Yes
Xtro\cirbp
1 of 12
No
Yes
Xtro\zranb2
1 of 12
No
No
Danio rerio (Zebrafish) (7)
Drer\ewsr1b
9 of 15
Yes
Yes
Drer\fus
9 of 15
Yes
Yes
Drer\taf15
9 of 15
Yes
Yes
Drer\ewsr1a
7 of 15
No
Yes
Drer\LOC110438494
2 of 15
No
Yes
Drer\LOC110440168
2 of 15
No
Yes
Drer\zranb2
1 of 15
No
No
Caenorhabditis elegans (Nematode, roundworm) (3)
Cele\fust-1
8 of 15
Yes
Yes
Cele\F10E7.2
1 of 15
No
Yes
Cele\Y25C1A.8
1 of 15
No
No
Arabidopsis thaliana (thale-cress) (6)
Atha\TAF15
3 of 9
Yes
Yes
Atha\AT3G07810
1 of 9
No
No
Atha\AT4G28990
1 of 9
No
Yes
Atha\AT5G47620
1 of 9
No
No
Atha\AT5G55550
1 of 9
No
No
Atha\TAF15b
1 of 9
No
Yes
Saccharomyces cerevisiae (Brewer's yeast) (0)
No records found.
Schizosaccharomyces pombe (Fission yeast) (0)
No records found.
Other Organism Orthologs (via OrthoDB)
Paralogs
Downloads
Download All DIOPT Paralogs
Paralogs (via DIOPT v8.0)
Drosophila melanogaster (Fruit fly) (2)
Gene Symbol
Score
Source
Compara
eggNOG
Homologene
Inparanoid
Isobase
OrthoDB
OrthoFinder
orthoMCL
Panther
RoundUp
Alignment
CG14718
4 of 10
CG3732
1 of 10
Human Disease Associations
FlyBase Human Disease Model Reports
Disease Model Summary Ribbon
Disease Ontology (DO) Annotations
Models Based on Experimental Evidence ( 20 )
Allele
Disease
Evidence
References
cazKK107486
model of  amyotrophic lateral sclerosis
CEA
(Shimamura et al., 2014)
model of  amyotrophic lateral sclerosis type 6
CEC
(Cacciottolo et al., 2019)
CEA
(Muraoka et al., 2018)
cazHMS00790
model of  amyotrophic lateral sclerosis type 6
CEA
(Wakisaka et al., 2019)
caz383
model of  amyotrophic lateral sclerosis
CEA with CG32576+t5.0
(Wang et al., 2011)
CEA
(Baldwin et al., 2016)
cazUAS.x10.Tag:FLAG
model of  amyotrophic lateral sclerosis type 6
CEC
(Cacciottolo et al., 2019)
cazP398L.10x.UAS.Tag:FLAG
model of  amyotrophic lateral sclerosis type 6
CEC
(Cacciottolo et al., 2019)
cazdsRNA.1-167.UAS
model of  amyotrophic lateral sclerosis
CEA
(Azuma et al., 2014, Shimamura et al., 2014, Sasayama et al., 2012)
cazdsRNA.180-346.UAS
model of  amyotrophic lateral sclerosis
CEA
(Shimamura et al., 2014, Sasayama et al., 2012)
cazUAS.Tag:HA
model of  amyotrophic lateral sclerosis
CEA
(Xia et al., 2012)
cazVDRC.cUa
model of  amyotrophic lateral sclerosis
CEA
(Lo Piccolo and Yamaguchi, 2017, Azuma et al., 2014)
model of  amyotrophic lateral sclerosis type 6
CEA
(Wakisaka et al., 2019)
caz2
model of  amyotrophic lateral sclerosis type 6
CEA
(Mallik et al., 2018, Frickenhaus et al., 2015)
cazKO
model of  amyotrophic lateral sclerosis type 6
CEA
(Mallik et al., 2018, Frickenhaus et al., 2015)
cazlox
model of  amyotrophic lateral sclerosis type 6
CEA
(Frickenhaus et al., 2015)
cazFRT
model of  amyotrophic lateral sclerosis type 6
CEA
(Frickenhaus et al., 2015)
cazUAS.cJa.Tag:HA
model of  amyotrophic lateral sclerosis type 6
CEA
(Jäckel et al., 2015)
model of  frontotemporal dementia
CEA
(Jäckel et al., 2015)
cazP398L.UAS.Tag:HA
model of  amyotrophic lateral sclerosis type 6
CEA
(Jäckel et al., 2015)
model of  frontotemporal dementia
CEA
(Jäckel et al., 2015)
cazQ349X.UAS.Tag:HA
DOES NOT model  amyotrophic lateral sclerosis type 6
CEA
(Jäckel et al., 2015)
DOES NOT model  frontotemporal dementia
CEA
(Jäckel et al., 2015)
cazVSH330388
model of  amyotrophic lateral sclerosis type 6
CEC
(Cacciottolo et al., 2019)
cazUAS.cUa
model of  amyotrophic lateral sclerosis type 6
CEA
(Wang et al., 2020, Bogaert et al., 2018)
cazP398L.UAS.cUa
model of  amyotrophic lateral sclerosis type 6
CEA
(Bogaert et al., 2018)
cazQGSY.P398L.UAS
model of  amyotrophic lateral sclerosis type 6
CEA
(Bogaert et al., 2018)
Potential Models Based on Orthology ( 4 )
Modifiers Based on Experimental Evidence ( 9 )
Allele
Disease
Interaction
References
cazKK107486
DOES NOT ameliorate  spinocerebellar ataxia type 31
modeled by Zzzz\UGGAAW.UAS
(Ishiguro et al., 2017)
modeled by Zzzz\UGGAAW.UAS, Hsap\TARDBPUAS.cIb
(Ishiguro et al., 2017)
modeled by Zzzz\UGGAAS.UAS
(Ishiguro et al., 2017)
modeled by Zzzz\UGGAAS.UAS, Hsap\TARDBPUAS.cIb
(Ishiguro et al., 2017)
model of  amyotrophic lateral sclerosis type 6
is exacerbated by Gem3ΔN.UAS
(Cacciottolo et al., 2019)
is ameliorated by hpRNA:CR18854VSH33053
(Muraoka et al., 2018)
is ameliorated by lncRNA:HsrωdsRNA.Sym.UAS
(Muraoka et al., 2018)
cazHMS00790
model of  amyotrophic lateral sclerosis type 6
is exacerbated by aubUASp.mGFP6
(Wakisaka et al., 2019)
is ameliorated by AGO3t2
(Wakisaka et al., 2019)
is ameliorated by AGO3t3
(Wakisaka et al., 2019)
caz383
model of  amyotrophic lateral sclerosis
is ameliorated by cazP398L.10x.UAS.Tag:FLAG
(Baldwin et al., 2016)
is ameliorated by Hsap\FUSUAS.10x.Tag:FLAG
(Baldwin et al., 2016)
is ameliorated by cazUAS.x10.Tag:FLAG
(Baldwin et al., 2016)
is ameliorated by Hsap\FUSP525L.10x.UAS.Tag:FLAG
(Baldwin et al., 2016)
cazUAS.x10.Tag:FLAG
ameliorates  amyotrophic lateral sclerosis type 6
modeled by caz2
(Frickenhaus et al., 2015)
modeled by cazKO
(Frickenhaus et al., 2015)
ameliorates  amyotrophic lateral sclerosis
modeled by caz383
(Baldwin et al., 2016)
model of  amyotrophic lateral sclerosis type 6
is exacerbated by Gem3ΔN.UAS
(Cacciottolo et al., 2019)
cazP398L.10x.UAS.Tag:FLAG
ameliorates  amyotrophic lateral sclerosis
modeled by caz383
(Baldwin et al., 2016)
cazVDRC.cUa
model of  amyotrophic lateral sclerosis
is exacerbated by TER9403775
(Azuma et al., 2014)
is ameliorated by TER94UAS.cHa
(Azuma et al., 2014)
is exacerbated by TER94k15502
(Azuma et al., 2014)
model of  amyotrophic lateral sclerosis type 6
is ameliorated by aubHN2
(Wakisaka et al., 2019)
is ameliorated by aubQC42
(Wakisaka et al., 2019)
is exacerbated by aubUASp.mGFP6
(Wakisaka et al., 2019)
is exacerbated by rhi02086
(Wakisaka et al., 2019)
is exacerbated by rhiKG00910
(Wakisaka et al., 2019)
is exacerbated by wdeEY00884
(Wakisaka et al., 2019)
is ameliorated by AGO3t2
(Wakisaka et al., 2019)
is ameliorated by AGO3t3
(Wakisaka et al., 2019)
caz2
model of  amyotrophic lateral sclerosis type 6
is ameliorated by cazUAS.x10.Tag:FLAG
(Frickenhaus et al., 2015)
is ameliorated by Xrp13xUAS.S.Tag:HA
(Mallik et al., 2018)
is ameliorated by Xrp1Ex-long
(Mallik et al., 2018)
is ameliorated by Xrp1GD9476
(Mallik et al., 2018)
is ameliorated by Xrp1HMS00053
(Mallik et al., 2018)
is ameliorated by Xrp1KO
(Mallik et al., 2018)
cazKO
model of  amyotrophic lateral sclerosis type 6
is ameliorated by cazUAS.x10.Tag:FLAG
(Frickenhaus et al., 2015)
cazVSH330388
model of  amyotrophic lateral sclerosis type 6
is exacerbated by Gem3ΔN.UAS
(Cacciottolo et al., 2019)
Disease Associations of Human Orthologs (via DIOPT v8.0 and OMIM)
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
DO term
Complementation?
Transgene?
EWSR1; EWS RNA binding protein 1
10 of 15
133450
 
FUS; FUS RNA binding protein
9 of 15
137070
 
TAF15; TATA-box binding protein associated factor 15
7 of 15
601574
 
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.
Dmel gene
Ortholog showing functional complementation
Supporting References
caz
Hsap\FUS
(Baldwin et al., 2016, Wang et al., 2011)
Interactions
Summary of Physical Interactions
Summary of Genetic Interactions
esyN Network Diagram
esyN Network Key:
Suppression
Enhancement
View in Interactions Browser
Please look at the allele data for full details of the genetic interactions
Starting gene(s)
Interaction type
Interacting gene(s)
Reference
caz
enhanceable
lncRNA:Hsrω
(Lo Piccolo and Yamaguchi, 2017)
caz
suppressible
lncRNA:Hsrω
(Lo Piccolo and Yamaguchi, 2017)
caz
suppressible
mirr
(Shimamura et al., 2014)
caz
suppressible
rho
(Shimamura et al., 2014)
caz
suppressible
ru
(Shimamura et al., 2014)
caz
enhanceable
TER94
(Azuma et al., 2014)
caz
suppressible
TER94
(Azuma et al., 2014)
caz
suppressible
Xrp1
(Mallik et al., 2018)
Starting gene(s)
Interaction type
Interacting gene(s)
Reference
lncRNA:Hsrω
enhanceable
caz
(Lo Piccolo and Yamaguchi, 2017)
TBPH
suppressible
caz
(Baldwin et al., 2016, Wang et al., 2011)
Xrp1
enhanceable
caz
(Mallik et al., 2018)
External Data
Linkouts
Pathways
Genomic Location and Detailed Mapping Data
Chromosome (arm)
X
Recombination map
1-53
Cytogenetic map
14B8-14B9
Sequence location
FlyBase Computed Cytological Location
Cytogenetic map
Evidence for location
14B8-14B9
Left limit from inclusion within Df(1)4b18 (FBrf0083559) Right limit from non-inclusion within Df(1)l32 (FBrf0083559); Limits computationally determined from genome sequence between P{EP}kat80EP620&P{EP}cazEP1564 and P{EP}Cyp1EP1073&P{EP}Dsp1EP355
Experimentally Determined Cytological Location
Cytogenetic map
Notes
References
14-14
(Immanuel, 1994.8.8)
14B-14B
(determined by in situ hybridisation)
(Immanuel et al., 1995)
Experimentally Determined Recombination Data
Location

1-53

(FlyBase, 2016)

1-54.3

(Comeron et al., 2012)

1-

(Rutherford, 1995, Immanuel, 1994.8.8)
Left of (cM)
Right of (cM)
Notes
Stocks and Reagents
Stocks (9)
Genomic Clones (19)
 

Please Note FlyBase no longer curates genomic clone accessions so this list may not be complete

cDNA Clones (42)
 

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 sequenced
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
      Other clones
      RNAi and Array Information
      Linkouts
      Antibody Information
      Laboratory Generated Antibodies
       

      polyclonal

      (Sasayama et al., 2012)
      Commercially Available Antibodies
       
      Other Information
      Relationship to Other Genes
      Source for database identify of
      Source for database merge of

      Source for merge of: caz BcDNA:GM09207

      (FlyBase, 1996-)

      Source for merge of: caz l(1)5g11

      (Haynes, 2017.5.2)
      Additional comments

      Source for merge of caz BcDNA:GM09207 was a shared cDNA ( date:030728 ).

      (FlyBase, 1996-)
      Other Comments

      Synaptic transmission at the larval neuromuscular junction is severely impaired in caz mutant flies.

      (Shahidullah et al., 2013)

      caz has been cloned and sequenced, and its expression pattern has been analysed.

      (Immanuel et al., 1995)

      caz gene product contains a glycine rich C-terminal domain, but only one RNA recognition motif (RRM) located in the central portion. Intron and exon borders of full length cDNA and genomic clones have been determined and the predicted protein has 403 amino acids and is 48.4kD. UV crosslinking experiments demonstrate general RNA binding activity for the full length protein and the RRM domain.

      (Stolow and Haynes, 1994)

      Isolated from a pupal cDNA library, using a fragment of the fs(1)h coding region containing "pen" repetitive sequences (GGN, where N is any nucleotide) as the probe.

      (Haynes et al., 1987)
      Origin and Etymology
      Discoverer
      Etymology
      Identification
      External Crossreferences and Linkouts ( 50 )
      Sequence 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/GCRP - The gene-centric reference proteome (GCRP) provides a 1:1 mapping between genes and UniProt accessions in which a single 'canonical' isoform represents the product(s) of each protein-coding gene.
      UniProt/Swiss-Prot - Manually annotated and reviewed records of protein sequence and functional information
      UniProt/TrEMBL - Automatically annotated and unreviewed records of protein sequence and functional information
      Other crossreferences
      AlphaFold DB - AlphaFold provides open access to protein structure predictions for the human proteome and other key proteins of interest, to accelerate scientific research.
      DRscDB - A single-cell RNA-seq resource for data mining and data comparison across species
      EMBL-EBI Single Cell Expression Atlas - Single cell expression across species
      FlyAtlas - Adult expression by tissue, using Affymetrix Dros2 array
      FlyAtlas2 - A Drosophila melanogaster expression atlas with RNA-Seq, miRNA-Seq and sex-specific data
      InterPro - A database of protein families, domains and functional sites
      KEGG Genes - Molecular building blocks of life in the genomic space.
      MARRVEL_MODEL - MARRVEL (model organism gene)
      Linkouts
      Reactome - An open-source, open access, manually curated and peer-reviewed pathway database.
      Synonyms and Secondary IDs (21)
      Reported As
      Symbol Synonym
      BcDNA:GM09207
      CG3606
      (Metwally et al., 2019, Meadows, 2017.9.14, Çiçek et al., 2016, Horan et al., 2015, Ni et al., 2011.7.19, Ni et al., 2010.12.1, Blagden et al., 2009, Herold et al., 2009, Keleman et al., 2009.8.5, Grieder et al., 2007, Aoyagi and Wassarman, 2000)
      Cabeza
      (Bolus et al., 2020)
      Caz
      (Braems et al., 2021, Gogia et al., 2021, Huang and Wong, 2021, Metwally et al., 2019, Wakisaka et al., 2019, Matsumoto et al., 2018, Ishiguro et al., 2017, Jäckel et al., 2015, Azuma et al., 2014, Machamer et al., 2014, Ly et al., 2013, O'Sullivan et al., 2013, Sasayama et al., 2012, Xia et al., 2012)
      EWSR1
      (Couthouis et al., 2012)
      P19
      (Stolow and Haynes, 1994)
      Pen19
      SARFH
      (Immanuel et al., 1995, Immanuel, 1994.8.8)
      Sarfh
      TFIID
      (Butler and Kadonaga, 2002)
      anon-Pen19
      cabeza
      (Liguori et al., 2021)
      cas
      (Robertson, 2001.1.8)
      caz
      (Layalle et al., 2021, Liguori et al., 2021, Yamaguchi et al., 2021, Yamaguchi et al., 2021, Kochanova et al., 2020, Sapiro et al., 2020, Wang et al., 2020, Ray et al., 2019, Walters et al., 2019, Xu et al., 2019, Yamamoto et al., 2019, Azuma et al., 2018, Bogaert et al., 2018, Machamer et al., 2018, Mallik et al., 2018, Olesnicky and Wright, 2018, Vandal et al., 2018, Yamamoto et al., 2018, Zhang et al., 2018, Haynes, 2017.5.2, Transgenic RNAi Project members, 2017-, Baldwin et al., 2016, Brewer-Jensen et al., 2016, Baëza et al., 2015, Frickenhaus et al., 2015, Horan et al., 2015, Van Bortle et al., 2015, Machamer et al., 2014, Shimamura et al., 2014, Kwon et al., 2013, Kwon et al., 2013, Shahidullah et al., 2013, Wang et al., 2012, Friedman et al., 2011, Hartmann et al., 2011, Wang et al., 2011, Herold et al., 2009, Zhou et al., 2008, Legube et al., 2006)
      dFUS
      (Lo Piccolo and Yamaguchi, 2017, Lo Piccolo et al., 2017, Tio et al., 2016, Casci and Pandey, 2015, Rumpf et al., 2014)
      l(1)5g11
      p19
      (Haynes et al., 1987)
      pen19
      Name Synonyms
      CABEZA
      (Minakhina et al., 2003)
      Cabeza
      (Azuma et al., 2014, Machamer et al., 2014, Shimamura et al., 2014, Ly et al., 2013, Lanson and Pandey, 2012, Xia et al., 2012, Chen et al., 2011)
      Sarcoma-associated RNA-binding fly homolog
      (Immanuel et al., 1995)
      cabeza
      (Azuma et al., 2018, Olesnicky and Wright, 2018, Machamer et al., 2014, Shahidullah et al., 2013, Wang et al., 2011, Stolow, 1994)
      lethal (1) 5g11
      (Rutherford, 1995)
      Secondary FlyBase IDs
      • FBgn0011571
      • FBgn0003059
      • FBgn0011830
      • FBgn0062479
      • FBgn0019764
      Datasets (8)
      Study focus (0)
      Experimental Role
      Project
      Project Type
      Title
      Study result (8)
      Result
      Result Type
      Title
      scRNAseq_2020_Cattenoz_NI_seq_clustering
      Clustering analysis of hemocytes from non-infested third instar larvae
      scRNAseq_2020_Cattenoz_WI_seq_clustering
      Clustering analysis of hemocytes from wasp-infested third instar larvae
      scRNAseq_2020_Cho_NI72LG_seq_clustering
      Clustering analysis of lymph gland cells from non-infested larvae at 72 h after egg-laying
      scRNAseq_2020_Cho_NI96LG_seq_clustering
      Clustering analysis of lymph gland cells from non-infested larvae at 96 h after egg-laying
      scRNAseq_2020_Cho_NI120LG_seq_clustering
      Clustering analysis of lymph gland cells from non-infested larvae at 120 h after egg-laying
      scRNAseq_2020_Cho_WI96LG_seq_clustering
      Clustering analysis of lymph gland cells from wasp-infested larvae at 96 h after egg-laying
      scRNAseq_2020_Cho_NI96HL_seq_clustering
      Clustering analysis of circulating hemocytes from non-infested larvae at 96 h after egg-laying
      scRNAseq_2020_Cho_NI120HL_seq_clustering
      Clustering analysis of circulating hemocytes from non-infested larvae at 120 h after egg-laying
      References (120)