FlyBase Gene Report: Dmel\Asx

General Information

Symbol

Dmel\Asx

Species

D. melanogaster

Name

Additional sex combs

Annotation Symbol

CG8787

Feature Type

protein_coding_gene

FlyBase ID

FBgn0261823

Gene Model Status

Current

Stock Availability

14 publicly available

Gene Snapshot

Additional sex combs (Asx) is a chromatin binding protein with His2A deubiquitination activity. It genetically interacts with Pc and sxc and represses homeotic genes transcription. Asx contributes to antennal development and embryonic cell cycle. [Date last reviewed: 2017-06-15]

Other Summaries

Auto summary
Gene Group
UniProtKB
Red Book
Interactive Fly

Also Known As

xen

Key Links

Genomic Location

Cytogenetic map

51A5-51C1

Sequence location

2R:14,503,958..14,512,493 [+]

Recombination map

2-71

Sequence

Get Decorated FASTA

Genomic Maps

GBrowse JBrowse

Help me choose

Other Genome Views

The following external sites may use different assemblies or annotations than FlyBase.

NCBI Genome Data Viewer

UCSC Genome Browser

Ensembl Genome Browser

PopFly Genome Browser

GO Summary Ribbons

[Detailed GO annotations]

Families, Domains and Molecular Function

Gene Group Membership (FlyBase)

POLYCOMB REPRESSIVE DEUBIQUITINASE

Protein Family (UniProt, Sequence Similarities)

Belongs to the Asx family. (Q9V727)

Protein Domains/Motifs

InterPro

Polycomb protein ASX/ASX-like; Polycomb protein ASX; Protein ASX-like, PHD domain; ASX homology domain

Molecular Function (see GO section for details)

Experimental Evidence

chromatin binding; deubiquitinase activator activity

Predictions / Assertions

chromatin binding; DNA binding

Summaries

Gene Group Membership

POLYCOMB REPRESSIVE DEUBIQUITINASE -: The Polycomb repressive deubiquitinase (PR-DUB) removes monoubiquitin from histone H2A. (Adapted from FBrf0210760).

UniProt Contributed Function Data

Atypical Polycomb group protein, which may be involved in both Polycomb group (PcG) and trithorax group (trxG) complexes. Non-catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-118' (H2AK118ub1). Does not deubiquitinate monoubiquitinated histone H2B. Required to maintain the transcriptionally repressive state of homeotic genes throughout development. The PR-DUB complex has weak or no activity toward 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. PcG and trxG proteins act by forming multiprotein complexes, which are respectively required to maintain the transcriptionally repressive and transcriptionally active state of homeotic genes throughout development. PcG and trxG protein complexes are not required to initiate repression and activation, but to maintain it during later stages of development.

(UniProt, Q9V727)

Phenotypic Description from the Red Book (Lindsley and Zimm 1992)

Asx: Additional sex combs

Asx/+ males have extra sex-comb teeth on meso- and metathoracic legs (e.g., Asx6 -> 11.8 sex-comb teeth per prothoracic, 0.5 per mesothoracic, and 0.2 per metathoracic leg). Homozygote embryonic lethal. Abdominal denticles in head and thoracic segments; abdominal segments 1-7 transformed into more posterior segments. With respect to the degree of transformation to more posterior structures, Df(2R)trix/Df(2R)trix > Df(2R)trix/Asx5 > Asx5/Asx5, indicating that Asx5 is hypomorphic mutation. Similar genotypes derived from Df(2R)trix/Asx5 oocytes achieved by means of pole-cell transplantatiton display more severe transformation than their counterparts above derived from mothers carrying one dose of Asx+ (Breen and Duncan). In double mutant combinations with Pcl, Psc, or Scm shows strong posterior transformation of all segments and failure of head involution. The presence of BXC+ required for expression of phenotype.

Gene Model and Products

Number of Transcripts

Number of Unique Polypeptides

Please see the GBrowse view of Dmel\Asx or the JBrowse view of Dmel\Asx 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

Low-frequency RNA-Seq exon junction(s) not annotated.

Gene model reviewed during 5.46

Sequence Ontology: Class of Gene

gene

gene_with_edited_transcript

(Rodriguez et al., 2012, Graveley et al., 2011)

nuclear_gene

protein_coding_gene

Transcript Data

Annotated Transcripts

Name

FlyBase ID

RefSeq ID

Length (nt)

Assoc. CDS (aa)

Asx-RA

FBtr0087493

NM_166057

6643

1669

Asx-RB

FBtr0100154

NM_001014527

5062

1560

Asx-RC

FBtr0332929

NM_001274040

6377

1670

Asx-RD

FBtr0332930

NM_001274041

6809

1538

Additional Transcript Data and Comments

Reported size (kB)

7.0 (northern blot)

(Sinclair et al., 1998)

Comments

External Data

Crossreferences

Polypeptide Data

Annotated Polypeptides

Name

FlyBase ID

Predicted MW (kDa)

Length (aa)

Theoretical pI

RefSeq ID

GenBank

Asx-PA

FBpp0086622

179.8

1669

6.30

NP_725398

AAF58239

Asx-PB

FBpp0099505

168.7

1560

6.39

NP_001014527

AAX52705

Asx-PC

FBpp0305149

179.9

1670

6.30

NP_001260969

AGB93501

Asx-PD

FBpp0305150

166.2

1538

6.39

NP_001260970

AGB93502

Polypeptides with Identical Sequences

None of the polypeptides share 100% sequence identity.

Additional Polypeptide Data and Comments

Reported size (kDa)

1668 (aa); 182 (kD predicted)

(Sinclair et al., 1998)

Comments

External Data

Subunit Structure (UniProtKB)

Component of the PR-DUB complex, at least composed of calypso and Asx (PubMed:20436459). Interacts with tant (PubMed:11397012). Interacts with cyclin CycG (PubMed:25995770).

(UniProt, Q9V727)

Domain

Contains two Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs, which may be required for an association with nuclear receptors.

(UniProt, Q9V727)

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\Asx using the Feature Mapper tool.

External Data

Crossreferences

Eukaryotic Promoter Database - A collection of databases of experimentally validated promoters for selected model organisms.

Linkouts

Gene Ontology (19 terms)

Molecular Function (3 terms)

Terms Based on Experimental Evidence (2 terms)

CV Term

Evidence

References

chromatin binding

inferred from direct assay

(Sinclair et al., 1998)

deubiquitinase activator activity

inferred from direct assay

(Scheuermann et al., 2010)

Terms Based on Predictions or Assertions (2 terms)

CV Term

Evidence

References

chromatin binding

inferred from biological aspect of ancestor with PANTHER:PTN000339786

(assigned by GO_Central )

(Gaudet et al., 2011)

DNA binding

inferred from electronic annotation with InterPro:IPR026905

(assigned by InterPro )

(FlyBase Curators et al., 2004-)

Biological Process (12 terms)

Terms Based on Experimental Evidence (7 terms)

CV Term

Evidence

References

antennal development

inferred from mutant phenotype

(Halachmi et al., 2007)

apposition of dorsal and ventral imaginal disc-derived wing surfaces

inferred from mutant phenotype

(Prout et al., 1997)

cell fate determination

inferred from genetic interaction with FLYBASE:Ubx; FB:FBgn0003944

(Bischoff et al., 2009)

monoubiquitinated histone H2A deubiquitination

inferred from direct assay

(Scheuermann et al., 2010)

inferred from mutant phenotype

(Scheuermann et al., 2010)

regulation of gene expression

inferred from mutant phenotype

(Sinclair et al., 1998)

regulation of ubiquitin-specific protease activity

inferred from direct assay

(Scheuermann et al., 2010)

syncytial blastoderm mitotic cell cycle

inferred from mutant phenotype

(O'Dor et al., 2006)

Terms Based on Predictions or Assertions (5 terms)

CV Term

Evidence

References

animal organ morphogenesis

inferred from biological aspect of ancestor with PANTHER:PTN000339786

(assigned by GO_Central )

(Gaudet et al., 2011)

negative regulation of transcription, DNA-templated

non-traceable author statement

(assigned by UniProt )

(Sinclair et al., 1998)

positive regulation of transcription by RNA polymerase II

inferred from biological aspect of ancestor with PANTHER:PTN000339786

(assigned by GO_Central )

(Gaudet et al., 2011)

positive regulation of transcription, DNA-templated

non-traceable author statement

(assigned by UniProt )

(Sinclair et al., 1998)

sex comb development

traceable author statement

(Sinclair et al., 1998)

Cellular Component (4 terms)

Terms Based on Experimental Evidence (3 terms)

CV Term

Evidence

References

chromatin

inferred from direct assay

(Sinclair et al., 1998)

nucleus

inferred from direct assay

(Scheuermann et al., 2010, Sinclair et al., 1998)

PR-DUB complex

inferred from direct assay

(Scheuermann et al., 2010)

inferred from physical interaction with FLYBASE:calypso; FB:FBgn0262166

(Scheuermann et al., 2010)

Terms Based on Predictions or Assertions (3 terms)

CV Term

Evidence

References

colocalizes_with nuclear chromatin

inferred from biological aspect of ancestor with PANTHER:PTN000339786

(assigned by GO_Central )

(Gaudet et al., 2011)

colocalizes_with nucleus

inferred from biological aspect of ancestor with PANTHER:PTN000339786

(assigned by GO_Central )

(Gaudet et al., 2011)

PR-DUB complex

inferred from biological aspect of ancestor with PANTHER:PTN000339786

(assigned by GO_Central )

(Gaudet et al., 2011)

Expression Data

Transcript Expression

northern blot

Stage

Tissue/Position (including subcellular localization)

Reference

embryonic stage

ventral neurectoderm

(Sinclair et al., 1998)

central nervous system

(Sinclair et al., 1998)

embryonic stage -- adult stage

(Sinclair et al., 1998)

blastoderm stage

organism | anterior

(Sinclair et al., 1998)

organism | posterior

(Sinclair et al., 1998)

embryonic stage 6 -- 17

organism | ubiquitous

(Sinclair et al., 1998)

adult stage & oogenesis

nurse cell

(Sinclair et al., 1998)

Additional Descriptive Data

Asx transcript is present at high levels in 0-1.5 hr embryos. Levels decline at 1.5-3 hours, then rise again. Levels are low in larvae, and increase in pupae and adults. Three transcripts are detected in adult males. Asx transcript is abundant in nurse cells, but absent from stage S10 oocytes. In the blastoderm stage embryo, expression is detected in a broad band in the anterior, and a narrower band in the posterior of the embryo. The transcript is ubiquitous during the rest of embryogenesis, though higher levels are detected in the neurectoderm and later in the central nervous system.

(Sinclair et al., 1998)

Marker for

Subcellular Localization

CV Term

Polypeptide Expression

immunolocalization

Stage

Tissue/Position (including subcellular localization)

Reference

embryonic stage

ventral neurectoderm

(Sinclair et al., 1998)

central nervous system

(Sinclair et al., 1998)

embryonic stage 5 -- 17

organism

(Sinclair et al., 1998)

Additional Descriptive Data

Asx protein is first detected in the cellular blastoderm embryo, in both the nucleus and cytoplasm. The protein may be at slightly higher levels in the anterior of the embryo. Later in embryogenesis, the protein is ubiquitous but non-uniform, with higher levels detected in the neurectoderm, and later in the central nervous system. Asx protein localizes to about 90 sites in polytene chromosomes.

(Sinclair et al., 1998)

Marker for

Subcellular Localization

CV Term

Evidence

References

chromatin

inferred from direct assay

(Sinclair et al., 1998)

nucleus

inferred from direct assay

(Scheuermann et al., 2010, Sinclair et al., 1998)

PR-DUB complex

inferred from direct assay

(Scheuermann et al., 2010)

inferred from physical interaction with FLYBASE:calypso; FB:FBgn0262166

(Scheuermann et al., 2010)

Expression Deduced from Reporters

High-Throughput Expression Data

Associated Tools

GBrowse - Visual display of RNA-Seq signals

View Dmel\Asx in GBrowse 2

RNA-Seq by Region - Search RNA-Seq expression levels by exon or genomic region

View exonic expression by developmental stage for Dmel\Asx

View exonic expression by tissue for Dmel\Asx

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

Fly-FISH - A database of Drosophila embryo and larvae mRNA localization patterns

CG8787

Images

FlyBase Wiki

Image Based Resources

Alleles, Insertions, Transgenic Constructs and Phenotypes

Classical and Insertion Alleles ( 41 )

For All Classical and Insertion Alleles Show

Allele of Asx

Class

Mutagen

Associated Insertion

Stocks

Known lesion

Asx^XF23

loss of function allele, amorphic allele - genetic evidence

Asx¹

gain of function allele

ethyl methanesulfonate

Asx³

gain of function allele

X ray

Yes

Asx⁵

hypomorphic allele - genetic evidence

ethyl methanesulfonate

Asx^unspecified

Asx¹³

gain of function allele

gamma ray

Asx^P1

hypomorphic allele - genetic evidence

P-element activity

P{}Asx^P1

Yes

Asx^xen-72-3

loss of function allele

X ray

Yes

Asx^22P4

amorphic allele - molecular evidence

ethyl methanesulfonate

Yes

Asx⁸

gain of function allele

gamma ray

Asx⁹

gain of function allele

gamma ray

Asx¹⁵

gain of function allele

gamma ray

Asx^EY07384

P{EPgy2}Asx^EY07384

Yes

Asx²

ethyl methanesulfonate

Asx⁴

Asx¹⁰

gain of function allele

gamma ray

Asx¹¹

gain of function allele

gamma ray

Asx¹²

gain of function allele

gamma ray

Asx¹⁴

gain of function allele

gamma ray

Asx^27J6

ethyl methanesulfonate

Yes

Yes

piggyBac activity

PBac{WH}Asx^f05121

Yes

Asx^f06290

piggyBac activity

PBac{WH}Asx^f06290

Yes

Asx¹⁶

gain of function allele

gamma ray

Asx^24E6

ethyl methanesulfonate

Asx^26A3

ethyl methanesulfonate

Asx^26D2

ethyl methanesulfonate

Asx^27K1

ethyl methanesulfonate

Asx^C849

ethyl methanesulfonate

Asx^e02881

piggyBac activity

PBac{RB}Asx^e02881

Yes

Asx^e02929

piggyBac activity

PBac{RB}Asx^e02929

Yes

Asx^I

Delta2-3 transposase

Yes

Asx^II75

Asx^II

Delta2-3 transposase

Yes

Asx^III

Delta2-3 transposase

Asx^IV

Delta2-3 transposase

Yes

Asx^ku256

chemical

Yes

Asx^R11

P-element activity

Asx^VI

Delta2-3 transposase

Yes

Asx⁶

gamma ray

Other relevant insertions

miscellaneous insertions

Name

Expression Data

P{lacW}l(2)SH0692^SH0692

Transgenic Constructs ( 5 )

For All Alleles Carried on Transgenic Constructs Show

Transgenic constructs containing/affecting coding region of Asx

Allele of Asx

Mutagen

Associated Transgenic Construct

Stocks

Transgenic constructs containing regulatory region of Asx

Deletions and Duplications ( 13 )

Summary of Phenotypes

For more details about a specific phenotype click on the relevant allele symbol.

Lethality

Allele

lethal (with Df(2R)BSC668)

Asx¹

lethal | recessive

lethal - all die before end of embryonic stage | recessive

lethal - all die before end of larval stage | recessive

Asx^xen-72-3

viable

Asx^P1

Other Phenotypes

Allele

cell size defective | recessive | somatic clone

Asx^xen-72-3

enhancer of variegation | dominant, with Dp(1;Y)B^SCV

enhancer of variegation | dominant, with In(1)w^m4

enhancer of variegation | dominant, with T(2;3)Sb^V

increased mortality, with Scer\GAL4^Act5C.PI

Asx^JF01708

mitotic cell cycle defective | embryonic stage

Asx³

non-enhancer of variegation, with P{hsp26-pt-T}39C-5

non-suppressor of variegation, with P{hsp26-pt-T}39C-5

some die during embryonic stage | recessive

some die during larval stage | recessive

Asx^xen-72-3

suppressor of variegation | dominant, with P{SUPor-P.PRE#6}69M7

Asx³

visible | dominant

Asx^unspecified

visible | dominant | homeotic

visible | homeotic

visible | recessive | somatic clone

visible | somatic clone

Phenotype manifest in

Allele

abdominal segment

abdominal segment 4

abdominal tergite 4 | male

Asx³

abdominal tergite 5

Asx^P1

abdominal tergite 6

Asx^P1

adult abdominal segment 3

Asx^P1

adult abdominal segment 4

adult abdominal segment 4 | male

adult abdominal segment 5 | ectopic

Asx³

anaphase | embryonic stage

Asx³

antenna | somatic clone

Asx^ku256

arista | somatic clone

Asx^ku256

arista lateral | somatic clone

Asx^ku256

denticle belt

denticle belt & thorax

Asx⁵

embryonic/first instar larval cuticle

Asx^22P4

embryonic abdomen

Asx^unspecified

embryonic abdominal segment

Asx^unspecified

embryonic abdominal segment 1 | ectopic

Asx^unspecified

embryonic abdominal segment 5

Asx^22P4

embryonic abdominal segment 6

Asx^22P4

embryonic abdominal segment 7

Asx^22P4

embryonic abdominal segment 8

Asx^unspecified

embryonic abdominal segment 8 | ectopic

Asx^22P4

embryonic head

Asx^unspecified

embryonic thoracic segment

Asx^unspecified

embryonic thorax

Asx^unspecified

fifth segment of antenna | somatic clone

Asx^ku256

haltere

Asx^P1

head

Asx⁸

larva

Asx^xen-72-3

leg | ectopic | somatic clone

Asx^ku256

mesothoracic leg | male

Asx^unspecified

metathoracic leg | male

Asx^unspecified

sex comb | ectopic

Asx³

telophase | embryonic stage

Asx³

thoracic segment

thorax

wing | somatic clone

wing blade | somatic clone

wing hair | somatic clone

Asx^xen-72-3

Orthologs

Downloads

Download All DIOPT Orthologs

Download All OrthoDB Orthologs

Human Orthologs (via DIOPT v7.1)

Homo sapiens (Human) (3)

Species\Gene Symbol

Score

Best Score

Best Reverse Score

Source

Alignment

Complementation?

Transgene?

Hsap\ASXL1

9 of 15

Yes

Hsap\ASXL2

9 of 15

Yes

Hsap\ASXL3

9 of 15

Yes

Model Organism Orthologs (via DIOPT v7.1)

Mus musculus (laboratory mouse) (3)

Species\Gene Symbol

Score

Best Score

Best Reverse Score

Source

Alignment

Complementation?

Transgene?

Mmus\Asxl1

9 of 15

Yes

Mmus\Asxl2

8 of 15

Yes

Mmus\Asxl3

7 of 15

Yes

Rattus norvegicus (Norway rat) (2)

Rnor\Asxl2

4 of 13

Yes

Rnor\Asxl1

1 of 13

Yes

Xenopus tropicalis (Western clawed frog) (3)

Xtro\asxl2

4 of 12

Yes

Xtro\asxl3

3 of 12

Yes

Xtro\asxl1

1 of 12

Yes

Danio rerio (Zebrafish) (2)

Drer\asxl2

9 of 15

Yes

Drer\asxl1

8 of 15

Yes

Caenorhabditis elegans (Nematode, roundworm) (0)

No orthologs reported.

Arabidopsis thaliana (thale-cress) (0)

No orthologs reported.

Saccharomyces cerevisiae (Brewer's yeast) (0)

No orthologs reported.

Schizosaccharomyces pombe (Fission yeast) (0)

No orthologs reported.

Orthologs in Drosophila Species (via OrthoDB v9.1) ( EOG091901T0 )

Organism

Common Name

Gene

AAA Syntenic Ortholog

Multiple Dmel Genes in this Orthologous Group

Drosophila melanogaster

fruit fly

Dmel\Asx

Drosophila suzukii

Spotted wing Drosophila

Drosophila simulans

Drosophila sechellia

Drosophila erecta

Drosophila yakuba

Drosophila ananassae

Drosophila pseudoobscura pseudoobscura

Dpse\GA24730

Drosophila persimilis

Dper\GL11443

Drosophila willistoni

Dwil\GK15837

Drosophila virilis

Dvir\GJ20762

Drosophila mojavensis

Dmoj\GI20581

Drosophila grimshawi

Dgri\GH22785

Orthologs in non-Drosophila Dipterans (via OrthoDB v9.1) ( EOG0915010N )

Organism

Common Name

Gene

Multiple Dmel Genes in this Orthologous Group

Musca domestica

House fly

Mdoa\17016641

Glossina morsitans

Tsetse fly

Gmor\GMOY000125

Lucilia cuprina

Australian sheep blowfly

Lcup\FF38_09365

Lucilia cuprina

Australian sheep blowfly

Lcup\FF38_08471

Aedes aegypti

Yellow fever mosquito

Aaeg\AAEL010357

Culex quinquefasciatus

Southern house mosquito

Cqui\CPIJ014141

Orthologs in non-Dipteran Insects (via OrthoDB v9.1) ( EOG090W07ZC )

Organism

Common Name

Gene

Multiple Dmel Genes in this Orthologous Group

Bombyx mori

Silkmoth

Bmor\BGIBMGA006166

Danaus plexippus

Monarch butterfly

Dple\DPOGS214118-PA

Heliconius melpomene

Postman butterfly

Hmel\HMEL011390

Apis florea

Little honeybee

Aflo\3649064052

Apis mellifera

Western honey bee

Amel\GB45679

Bombus impatiens

Common eastern bumble bee

Bimp\BIMP19197

Bombus terrestris

Buff-tailed bumblebee

Bter\15213142

Linepithema humile

Argentine ant

Lhum\LH10820

Megachile rotundata

Alfalfa leafcutting bee

Mrot\MROTU:001701

Nasonia vitripennis

Parasitic wasp

Nvit\Nasvi2EG025889

Nasonia vitripennis

Parasitic wasp

Nvit\Nasvi2EG031167

Dendroctonus ponderosae

Mountain pine beetle

Dpod\YQE_07211

Tribolium castaneum

Red flour beetle

Tcas\TC013912

Pediculus humanus

Human body louse

Phum\PHUM073040

Rhodnius prolixus

Kissing bug

Rpro\RPRC001705

Cimex lectularius

Bed bug

Clec\CLEC010618

Acyrthosiphon pisum

Pea aphid

Apim\ACYPI007721

Zootermopsis nevadensis

Nevada dampwood termite

Znev\Znev_12515

Zootermopsis nevadensis

Nevada dampwood termite

Znev\Znev_11523

Orthologs in non-Insect Arthropods (via OrthoDB v9.1) ( EOG090X07VA )

Organism

Common Name

Gene

Multiple Dmel Genes in this Orthologous Group

Strigamia maritima

European centipede

Smar\SMAR002596

Ixodes scapularis

Black-legged tick

Isca\ISCW007010

Stegodyphus mimosarum

African social velvet spider

Smim\KFM73038.1

Stegodyphus mimosarum

African social velvet spider

Smim\KFM68504.1

Stegodyphus mimosarum

African social velvet spider

Smim\KFM73037.1

Tetranychus urticae

Two-spotted spider mite

Turt\tetur38g00430

Daphnia pulex

Water flea

Dpux\DAPPUDRAFT_310933

Orthologs in non-Arthropod Metazoa (via OrthoDB v9.1) ( EOG091G0C66 )

Organism

Common Name

Gene

Multiple Dmel Genes in this Orthologous Group

Strongylocentrotus purpuratus

Purple sea urchin

Spur\Sp-AsxL3

Ciona intestinalis

Vase tunicate

Cint\ENSCING00000024223

Ciona intestinalis

Vase tunicate

Cint\ENSCING00000001042

Ciona intestinalis

Vase tunicate

Cint\ENSCING00000006748

Gallus gallus

Domestic chicken

Ggal\ASXL2

Gallus gallus

Domestic chicken

Ggal\ASXL3

Gallus gallus

Domestic chicken

Ggal\ASXL1

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?

ASXL1; ASXL transcriptional regulator 1

9 of 15

612990

ASXL2; ASXL transcriptional regulator 2

9 of 15

612991

SHASHI-PENA SYNDROME; SHAPNS

ASXL3; ASXL transcriptional regulator 3

9 of 15

615115

BAINBRIDGE-ROPERS SYNDROME; BRPS

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

Interactions Browser

View in Interactions Browser

Please look at the Interaction Group reports for full details of the physical interactions

protein-protein

Interacting group

Assay

References

Asx - CycG

anti tag coimmunoprecipitation, anti tag western blot, western blot, two hybrid

(Dupont et al., 2015)

Asx - E(z)

proximity ligation assay, fluorescence microscopy, pull down, autoradiography, western blot

(Li et al., 2017)

Asx - calypso

cosedimentation, molecular weight, molecular sieving, molecular weight estimation by staining, comigration in gel electrophoresis, anti tag western blot, x-ray crystallography, anti tag coimmunoprecipitation, peptide massfingerprinting, protein cross-linking with a bifunctional reagent, x ray scattering

(Foglizzo et al., 2018, Scheuermann et al., 2010)

Asx - trx

proximity ligation assay, fluorescence microscopy, ion exchange chromatography, western blot, pull down, autoradiography, anti bait coimmunoprecipitation

(Li et al., 2017)

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

Asx

suppressible

brm

(Campbell et al., 1995)

Asx

suppressible

esc

(Campbell et al., 1995)

Asx

enhanceable

Hsc70-4

(Mollaaghababa et al., 2001)

Asx

enhanceable

Sce

(Gutiérrez et al., 2012)

Asx

enhanceable

trx

(Milne et al., 1999)

Asx

suppressible

Ubx

(Bischoff et al., 2009)

Starting gene(s)

Interaction type

Interacting gene(s)

Reference

ash1|trx

enhanceable

Asx

(Gildea et al., 2000)

brm|trx

enhanceable

Asx

(Gildea et al., 2000)

suppressible

(Ji et al., 2012)

enhanceable

(Ji et al., 2012)

enhanceable

(Bajusz et al., 2001)

E(z)

suppressible

Asx

(Bajusz et al., 2001)

enhanceable

Asx

(Randsholt et al., 2000)

Marcal1

suppressible

Asx

(Morimoto et al., 2016)

Marcal1

enhanceable

Asx

(Morimoto et al., 2016)

mxc

enhanceable

Asx

(Saget et al., 1998)

Myc

suppressible

Asx

(Secombe et al., 2007)

enhanceable

Asx

(Milne et al., 1999, Breen and Duncan, 1986, Jurgens, 1985)

Snr1

suppressible

Asx

(Marenda et al., 2004)

tant

suppressible

Asx

(Dietrich et al., 2001)

trx

enhanceable

Asx

(Milne et al., 1999)

Ubx

suppressible

Asx

(Bischoff et al., 2009)

suppressible

Asx

(Netter et al., 1998)

External Data

Subunit Structure (UniProtKB)

Component of the PR-DUB complex, at least composed of calypso and Asx (PubMed:20436459). Interacts with tant (PubMed:11397012). Interacts with cyclin CycG (PubMed:25995770).

(UniProt, Q9V727 )

Linkouts

DroID - A comprehensive database of gene and protein interactions.

FBgn0261823

InterologFinder - Protein-protein interactions (PPI) from both known and predicted PPI data sets.

36612

Pathways

Gene Group - Pathway Membership (FlyBase)

External Data

Linkouts

Reactome - An open-source, open access, manually curated and peer-reviewed pathway database.

UCH proteinases

Genomic Location and Detailed Mapping Data

Chromosome (arm)

Recombination map

2-71

Cytogenetic map

51A5-51C1

Sequence location

2R:14,503,958..14,512,493 [+]

FlyBase Computed Cytological Location

Cytogenetic map

Evidence for location

51A5-51C1

Left limit from inclusion within Df(2R)03072 (FBrf0093664) Right limit from inclusion within Df(2R)03072 (FBrf0093664)

Experimentally Determined Cytological Location

Cytogenetic map

Notes

References

51A1-51B4

(determined by in situ hybridisation)

(Sinclair et al., 1992)

Experimentally Determined Recombination Data

Location

2-71

(FlyBase, 2016)

2-75.6

(Comeron et al., 2012)

2-72

(Brock, 1998.1.2, Tearle and Nusslein-Volhard, 1987, Jurgens, 1985)

(Prout et al., 1997)

Left of (cM)

Right of (cM)

Notes

Located on 2R.

(Prout et al., 1997)

Stocks and Reagents

Stocks (14)

Bloomington

6041

Asx^XF23/CyO

31192

y¹ v¹; P{TRiP.JF01708}attP2

4198

cn¹ Asx¹ bw¹ sp¹/CyO

51677

y¹ sc^* v¹; P{TRiP.GLC01660}attP2

16821

y¹ w^67c23; P{EPgy2}Asx^EY07384/CyO

f05121

f06290

108566

123512

w¹¹¹⁸; P{RS3}Asx^CB-5219-3

107625

v330440

v107274

More stocks available...

Genomic Clones (23)

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

cDNA Clones (27)

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

AT27514

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.

FBgn0261823

cDNA Clones, End Sequenced (ESTs)

BDGP DGC clones

Other clones

RNAi and Array Information

Linkouts

DRSC - Results frm RNAi screens

FBgn0261823

GenomeRNAi - A database for cell-based and in vivo RNAi phenotypes and reagents

36612

Antibody Information

Laboratory Generated Antibodies

polyclonal

(Li et al., 2017, Scheuermann et al., 2010, Sinclair et al., 1998)

Commercially Available Antibodies

Other Information

Relationship to Other Genes

Source for database identify of

Source for identity of: Asx CG8787

(Brody, 1999.11)

Source for database merge of

Additional comments

Other Comments

Mutant analysis demonstrates functional interactions between Pc, sxc and Asx in vivo.

(Milne et al., 1999)

Asx is required for both the activation and repression of homeotic loci.

(Milne et al., 1999)

Asx binds to multiple sites on polytene chromosomes, 70% of which overlap those of Pc, ph-p, ph-d and Pcl, 30% of which are unique.

(Sinclair et al., 1998)

Asx is required in the central nervous system to regulate Ubx.

(Sinclair et al., 1998)

Identification: Genetic screen for autosomal mutations that produce blisters in somatic wing clones. 1 allele of xen has been isolated.

(Prout et al., 1997)

In an effort to subdivide the Pc-group genes functionally, the phenotypes of adult flies heterozygous for every pairwise combination of Pc-group mutation were examined. Asx, Pc, Pcl, Psc, Scm and Sce have similar functions in some imaginal tissues. Genetic interactions have been demonstrated between esc, Asx, E(Pc), Pcl, E(z) and sxc. Most duplications of Pc-group genes neither exhibit anterior transformations nor suppress the extra sex comb phenotype of Pc-group mutations, suggesting that not all Pc-group genes behave as predicted by the mass action model.

(Campbell et al., 1995)

Sections of the Scr regulatory region may be important for regulation of Scr by Polycomb- and trithorax-group genes.

(Gindhart and Kaufman, 1995)

Mosaic and expression pattern analysis reveals that the Pc-group genes do not act only in a common complex or pathway: they must have some independent functions.

(Soto et al., 1995)

The bithorax complex genes are regulated by the Pc-group of genes, acting via 'Pc-group response elements' (PREs), that can work even when removed from the normal bithorax complex context. The Pc-group products apparently provide stable memory or imprinting of boundaries which are specified by gap and pair-rule regulators.

(Simon et al., 1993)

Mutations of genes in the Polycomb group (esc, E(z), Pc, ph-p, ph-d, Scm, Pcl, Sce, Asx, Psc, pho and Antp) cause abnormal segmental development due to the ectopic expression of abd-A and Abd-B. Embryos lacking both maternal and zygotic Asx product were generated to determine abd-A and Abd-B expression patterns.

(Simon et al., 1992)

Embryonic and adult phenotypes suggest that Asx is required zygotically for determination of segment number and polarity. A construct carrying an eve promoter fused to a Ecol\lacZ gene was used to demonstrate that 40% of the mutant Asx embryos exhibit some ectopic expression of eve. This suggests Asx is required for the normal expression of eve.

(Sinclair et al., 1992)

The Pc-group genes are negative regulators of homeotic genes.

(McKeon and Brock, 1991)

Pole cell transplantation techniques demonstrate that Asx is maternally expressed and is required for normal the bithorax complex expression during embryogenesis.

(Breen and Duncan, 1986)

A member of the Polycomb group of genes. Asx function is required for the regulation of the bithorax complex during embryonic development. In its absence abd-A and Abd-B are ectopically expressed, leading to the conclusion that Asx is a negative regulator of the bithorax complex.

(Jurgens, 1985)

Asx/+ males have extra sex-comb teeth on meso- and metathoracic legs. Homozygote embryonic lethal. Abdominal denticles in head and thoracic segments; abdominal segments 1-7 transformed into more posterior segments. In double mutant combinations with Pcl, Psc, or Scm shows strong posterior transformation of all segments and failure of head involution. The presence of the bithorax complex⁺ required for expression of phenotype.

(Jurgens, 1985)

Origin and Etymology

Discoverer

Jurgens.

Etymology

Identification

External Crossreferences and Linkouts ( 47 )

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.

36612

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

Q9V727

UniProt/TrEMBL - Automatically annotated and unreviewed records of protein sequence and functional information

Other crossreferences

InterPro - A database of protein families, domains and functional sites

Reactome - An open-source, open access, manually curated and peer-reviewed pathway database.

UCH proteinases

Linkouts

Drosophila Genomics Resource Center - Drosophila Genomics Resource Center cDNA clones

FBgn0261823

DroID - A comprehensive database of gene and protein interactions.

FBgn0261823

DRSC - Results frm RNAi screens

FBgn0261823

Eukaryotic Promoter Database - A collection of databases of experimentally validated promoters for selected model organisms.

Fly-FISH - A database of Drosophila embryo and larvae mRNA localization patterns

CG8787

FlyMine - An integrated database for Drosophila genomics

FBgn0261823

GenomeRNAi - A database for cell-based and in vivo RNAi phenotypes and reagents

36612

iBeetle-Base - RNAi phenotypes in the red flour beetle (Tribolium castaneum)

TC013912

InterologFinder - Protein-protein interactions (PPI) from both known and predicted PPI data sets.

36612

KEGG Genes - Molecular building blocks of life in the genomic space.

Dmel_CG8787

modMine - A data warehouse for the modENCODE project

FBgn0261823

Synonyms and Secondary IDs (11)

Reported As

Symbol Synonym

ASX

(Di Croce and Helin, 2013, Lanzuolo and Orlando, 2012, Schwartz and Pirrotta, 2007)

Asx

(Ma et al., 2018, Li et al., 2017, Sharma et al., 2017, Morimoto et al., 2016, Dietz et al., 2015, Dupont et al., 2015, Ghasemi et al., 2015, Hsu et al., 2015, Luck et al., 2014, McElroy et al., 2014, Vasanthi et al., 2013, Follmer et al., 2012, Gutiérrez et al., 2012, Ji et al., 2012, Rodriguez et al., 2012, Gibert et al., 2011, Rodriguez-Jato et al., 2011, Baig et al., 2010, Gandille et al., 2010, Scheuermann et al., 2010, Bischoff et al., 2009, Jiang et al., 2009, Khan et al., 2009, Chen et al., 2008, Christensen et al., 2008.12.28, Cukier et al., 2008, Doheny et al., 2008, Petruk et al., 2008, Bai et al., 2007, Christensen and Cook, 2007.10.29, de Ayala Alonso et al., 2007, Halachmi et al., 2007, Secombe et al., 2007, Bartolome and Charlesworth, 2006, Culi et al., 2006, O'Dor et al., 2006, Ali and Bender, 2004, Balasov, 2002, Joanis and Lloyd, 2002, Choi et al., 2000)

CG8787

(Meadows, 2017.9.14, Ni et al., 2010.12.1, Keleman et al., 2009.8.5, Ni et al., 2008, Klebes et al., 2005)

FBgn0261823

(Tikhonov et al., 2013)

xen

(Carmon et al., 2010, Bischoff et al., 2009)

Name Synonyms

Additional Sex Combs

(Bischoff et al., 2009, Halachmi et al., 2007)

Additional sex comb

(Balasov, 2002)

Additional sex combs

(Wieschaus and Nüsslein-Volhard, 2016, McElroy et al., 2014, Rodriguez-Jato et al., 2011, Baig et al., 2010, Scheuermann et al., 2010, Cukier et al., 2008, Maeda and Karch, 2006, O'Dor et al., 2006, Ali and Bender, 2004, Brock, 1998.1.2)

Additionnal sex comb

(Gibert et al., 2011)

additional sex combs

(Choi et al., 2000)

xenicid

(Carmon et al., 2010, Bischoff et al., 2009, MacIntyre et al., 2007, Prout et al., 1997)

Secondary FlyBase IDs

FBgn0000142
FBgn0020770

Datasets (0)

Study focus (0)

Experimental Role

Project

Project Type

Title

References (163)

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