FlyBase Gene Report: Dmel\Axs

General Information

Symbol

Dmel\Axs

Species

D. melanogaster

Name

Abnormal X segregation

Annotation Symbol

CG9703

Feature Type

protein_coding_gene

FlyBase ID

FBgn0000152

Gene Model Status

Current

Stock Availability

6 publicly available

Gene Summary

Abnormal X segregation (Axs) encodes a member of transmembrane proteins with calcium-activated chloride activity. Axs product localizes to a membranous sheath that surrounds the oocyte meiosis I spindle. A dominant mutation in Axs results in barrel-shaped meiosis I spindles, cell cycle defects, and missegregation of nonexchange chromosomes in oocytes. [Date last reviewed: 2018-09-06] (FlyBase Gene Snapshot)

All Summaries

Gene Snapshot
Alliance
Auto summary
Gene Group
Red Book
Interactive Fly

Key Links

Genomic Location

Cytogenetic map

15A1-15A1

Sequence location

X:16,680,089..16,683,895 [-]

Recombination map

1-55

RefSeq locus

NC_004354 REGION:16680089..16683895

Sequence

Get Decorated FASTA

Genomic Maps

JBrowse

Other Genome Views

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

Function

Gene Ontology (GO) Annotations (11 terms)

Molecular Function (1 term)

Terms Based on Experimental Evidence (0 terms)

Terms Based on Predictions or Assertions (1 term)

CV Term

Evidence

References

enables chloride channel activity

inferred from biological aspect of ancestor with PANTHER:PTN000267391

(GO Reference Genome Project, 2011-)

Biological Process (4 terms)

Terms Based on Experimental Evidence (3 terms)

CV Term

Evidence

References

involved_in distributive segregation

inferred from mutant phenotype

(Whyte et al., 1993, Zitron and Hawley, 1989)

inferred from genetic interaction with FLYBASE:Mps1; FB:FBgn0000063

(Whyte et al., 1993)

inferred from genetic interaction with FLYBASE:ncd; FB:FBgn0002924

(Whyte et al., 1993)

involved_in female meiosis chromosome segregation

inferred from mutant phenotype

(Kramer and Hawley, 2003, Whyte et al., 1993, Zitron and Hawley, 1989)

involved_in meiotic spindle organization

inferred from mutant phenotype

(Kramer and Hawley, 2003)

Terms Based on Predictions or Assertions (1 term)

CV Term

Evidence

References

involved_in chloride transmembrane transport

inferred from biological aspect of ancestor with PANTHER:PTN000267391

(GO Reference Genome Project, 2011-)

Cellular Component (6 terms)

Terms Based on Experimental Evidence (4 terms)

CV Term

Evidence

References

located_in cell cortex

inferred from direct assay

(Kramer and Hawley, 2003)

located_in endoplasmic reticulum

inferred from direct assay

(Kramer and Hawley, 2003)

located_in nuclear outer membrane

inferred from direct assay

(Kramer and Hawley, 2003)

located_in spindle

inferred from direct assay

(Kramer and Hawley, 2003)

Terms Based on Predictions or Assertions (2 terms)

CV Term

Evidence

References

located_in membrane

inferred from sequence or structural similarity

(Kramer and Hawley, 2003)

is_active_in plasma membrane

inferred from biological aspect of ancestor with PANTHER:PTN000267334

(GO Reference Genome Project, 2011-)

Gene Group (FlyBase)

ANOCTAMINS

Protein Family (UniProt)

Protein Signatures (InterPro)

Summaries

Gene Snapshot

Gene Group (FlyBase)

ANOCTAMINS -: Anoctamins (or TMEM16 family members) are calcium-activated chloride channels (CaCC) with eight putative transmembrane domains. It is not clear whether all anoctamins possess CaCC activity. (Adapted from FBrf0223235 and PMID:25451786).

Phenotypic Description (Red Book; Lindsley and Zimm 1992)

Axs: Aberrant X segregation (A.E. Zitron and S. Hawley)

Dominant meiotic mutant that affects distributive pairing; disrupts meiotic segregation of non-exchange chromosomes in females. Has no effect on the frequency of exchange. Loss of function mutation at a dosage sensitive locus; Axs+ duplication can rescue mutation in trans. Specific to female meiosis. In Axs/Axs/Y females, X-chromosomes nondisjunction is accompanied by random disjunction of the Y rather than directed disjunction from the X's as observed in +/+/Y females. Axs homozygotes increase X nondisjunction many fold; parallel but lesser effects observed on autosomal disjunction.

Gene Model and Products

Number of Transcripts

Number of Unique Polypeptides

Please see the JBrowse view of Dmel\Axs 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

Protein 3D structure (Predicted by AlphaFold) (AlphaFold entry O97132)

If you don't see a structure in the viewer, 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.

Experimentally Determined Structures

Crossreferences

Comments on Gene Model

Gene model reviewed during 5.47

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

Gene model reviewed during 5.50

Transcript Data

Annotated Transcripts

Name

FlyBase ID

RefSeq ID

Length (nt)

Assoc. CDS (aa)

Axs-RA

FBtr0074372

NM_057429

2575

646

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

UniProt

RefSeq ID

GenBank

Axs-PA

FBpp0074146

75.2

646

8.31

O97132

NP_476777

AAF48644

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)

Comments

External Data

Crossreferences

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

Linkouts

Sequences Consistent with the Gene Model

Nucleotide / Polypeptide Records

UniProt

O97132

Mapped Features

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

External Data

Crossreferences

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

Axs_1

Linkouts

Expression Data

Testis-specificity index

The testis specificity index was calculated from modENCODE tissue expression data by Vedelek et al., 2018 to indicate the degree of testis enrichment compared to other tissues. Scores range from -2.52 (underrepresented) to 5.2 (very high testis bias).

-1.05

Transcript Expression

Additional Descriptive Data

Marker for

Subcellular Localization

CV Term

Polypeptide Expression

mass spectroscopy

Stage

Tissue/Position (including subcellular localization)

Reference

adult stage

adult head

• membrane

(Aradska et al., 2015)

Additional Descriptive Data

Marker for

Subcellular Localization

CV Term

Evidence

References

located_in cell cortex

inferred from direct assay

(Kramer and Hawley, 2003)

located_in endoplasmic reticulum

inferred from direct assay

(Kramer and Hawley, 2003)

located_in nuclear outer membrane

inferred from direct assay

(Kramer and Hawley, 2003)

located_in spindle

inferred from direct assay

(Kramer and Hawley, 2003)

Expression Deduced from Reporters

High-Throughput Expression Data

Associated Tools

JBrowse - Visual display of RNA-Seq signals

View Dmel\Axs in JBrowse

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

View exonic expression by developmental stage for Dmel\Axs

View exonic expression by tissue for Dmel\Axs

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

32645/tissue=All

EMBL-EBI Single Cell Expression Atlas - Single cell expression across species

FBgn0000152

FlyAtlas - Adult expression by tissue, using Affymetrix Dros2 array

FBgn0000152

FlyAtlas2 - A Drosophila melanogaster expression atlas with RNA-Seq, miRNA-Seq and sex-specific data

FBgn0000152

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

CG9703

Flygut - An atlas of the Drosophila adult midgut

FBgn0000152

Images

FlyBase Wiki

Image Based Resources

Alleles, Insertions, Transgenic Constructs, and Aberrations

Classical and Insertion Alleles ( 7 )

For All Classical and Insertion Alleles Show

Other relevant insertions

Transgenic Constructs ( 9 )

For All Alleles Carried on Transgenic Constructs Show

Transgenic constructs containing/affecting coding region of Axs

Transgenic constructs containing regulatory region of Axs

Aberrations (Deficiencies and Duplications) ( 2 )

Inferred from experimentation ( 2 )

Gene duplicated in

Dp(1;2)r⁺75c

(Whyte et al., 1993)

Dp(1;4)81j6c

(Whyte et al., 1993)

Inferred from location ( 19 )

Variants

Variant Molecular Consequences

Alleles Representing Disease-Implicated Variants

Phenotypes

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

Lethality

Allele

viable, with Scer\GAL4^pnr-MD237

Axs^GD3397

viable, with Scer\GAL4^tin.CΔ4

Axs^GD3397

Other Phenotypes

Allele

abnormal flight, with Scer\GAL4^Mef2.PR

Axs^GD3397

abnormal meiotic cell cycle (with Axs^r1)

Axs^r2

abnormal meiotic cell cycle (with Axs^r2)

Axs^r1

abnormal meiotic cell cycle | dominant

Axs^D

abnormal meiotic cell cycle | female

Axs^D

abnormal meiotic cell cycle | recessive

abnormal meiotic cell cycle | semidominant

Axs^D

visible, with Scer\GAL4^pnr-MD237

Axs^GD3397

Phenotype manifest in

Allele

meiosis & nuclear chromosome, with Scer\GAL4^{VP16.nanos.UTR}

Axs^D.UASp

meiosis & nuclear chromosome & spindle, with Scer\GAL4^{VP16.nanos.UTR}

Axs^D.UASp

meiosis & nuclear chromosome | female

Axs^D

mesonotum, with Scer\GAL4^pnr-MD237

Axs^GD3397

trichogen cell, with Scer\GAL4^pnr-MD237

Axs^GD3397

Orthologs

Downloads

Download All DIOPT Orthologs

Human Orthologs (via DIOPT v9.1)

Species\Gene Symbol

Score

Best Score

Best Reverse Score

Source

Alignment

Complementation?

Transgene?

Homo sapiens (Human) (10)

Hsap\ANO10

11 of 14

Yes

5 of 14

2 of 14

2 of 14

2 of 14

2 of 14

2 of 14

2 of 14

2 of 14

2 of 14

Model Organism Orthologs (via DIOPT v9.1)

Species\Gene Symbol

Score

Best Score

Best Reverse Score

Source

Alignment

Complementation?

Transgene?

Rattus norvegicus (Norway rat) (10)

Rnor\Ano10

11 of 14

Yes

4 of 14

2 of 14

2 of 14

2 of 14

2 of 14

2 of 14

2 of 14

2 of 14

2 of 14

Mus musculus (laboratory mouse) (10)

Mmus\Ano10

11 of 14

Yes

5 of 14

2 of 14

2 of 14

2 of 14

2 of 14

2 of 14

2 of 14

2 of 14

1 of 14

Xenopus tropicalis (Western clawed frog) (14)

Xtro\ano10

10 of 13

Yes

Xtro\ano10l

9 of 13

Yes

2 of 13

2 of 13

2 of 13

2 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

Yes

Xtro\LOC100489387

1 of 13

Yes

Xtro\LOC100490855

1 of 13

Danio rerio (Zebrafish) (16)

Drer\ano10a

12 of 14

Yes

Drer\ano10b

11 of 14

Yes

5 of 14

5 of 14

2 of 14

2 of 14

2 of 14

2 of 14

2 of 14

2 of 14

2 of 14

2 of 14

2 of 14

2 of 14

1 of 14

1 of 14

Yes

Caenorhabditis elegans (Nematode, roundworm) (2)

Cele\anoh-2

4 of 14

Yes

Cele\anoh-1

2 of 14

Anopheles gambiae (African malaria mosquito) (4)

Agam\AgaP_AGAP009776

12 of 12

Yes

Agam\AgaP_AGAP009995

4 of 12

Agam\AgaP_AGAP000095

2 of 12

Agam\AgaP_AGAP010474

2 of 12

Arabidopsis thaliana (thale-cress) (1)

Atha\AT1G73020

9 of 13

Yes

Saccharomyces cerevisiae (Brewer's yeast) (1)

Scer\IST2

7 of 13

Yes

Schizosaccharomyces pombe (Fission yeast) (1)

Spom\SPBC691.05c

5 of 12

Yes

Escherichia coli (enterobacterium) (0)

Other Organism Orthologs (via OrthoDB)

Data provided directly from OrthoDB:Axs. Refer to their site for version information.

Paralogs

Downloads

Download All DIOPT Paralogs

Paralogs (via DIOPT v9.1)

Gene Symbol

Score

Source

Alignment

Drosophila melanogaster (Fruit fly) (4)

wwk

9 of 13

subdued

5 of 13

CG6938

4 of 13

CG10353

4 of 13

Human Disease Associations

FlyBase Human Disease Model Reports

Disease Ontology (DO) Annotations

Models Based on Experimental Evidence ( 0 )

Allele

Disease

Evidence

References

Potential Models Based on Orthology ( 1 )

Human Ortholog

Disease

Evidence

References

ANO10; anoctamin 10

model of autosomal recessive spinocerebellar ataxia 10

IEA

(FlyBase, 2019-)

Modifiers Based on Experimental Evidence ( 0 )

Allele

Disease

Interaction

References

Disease Associations of Human Orthologs (via DIOPT v9.1 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?

ANO10; anoctamin 10

11 of 14

613726

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10; SCAR10

autosomal recessive spinocerebellar ataxia 10

ANO8; anoctamin 8

5 of 14

610216

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

Show neighbor-neighbor interactions:

Off

Show/hide secondary interactors
(data from AllianceMine provided by esyN)

Select Layout:

Force Directed

Circle

Concentric

Legend:

Protein

RNA

Selected Interactor(s)

Other Interaction Browsers

View in FlyBase Interactions Browser View in MIST tool (external link)

Please see the Physical Interaction reports below for full details

RNA-RNA

Physical Interaction

Assay

References

Axs - mir-124

luminiscence technology

(Sun et al., 2012)

Summary of Genetic Interactions

esyN Network Diagram

Show/hide secondary interactors
(data from AllianceMine provided by esyN)

esyN Network Key:

Suppression

Enhancement

Other Interaction Browsers

View in FlyBase Interactions Browser View in MIST tool (external link)

Please look at the allele data for full details of the genetic interactions

Starting gene(s)

Interaction type

Interacting gene(s)

Reference

Axs

suppressible

lwr

(Apionishev et al., 2001)

Starting gene(s)

Interaction type

Interacting gene(s)

Reference

External Data

Linkouts

BioGRID - A database of protein and genetic interactions.

58981

DroID - A comprehensive database of gene and protein interactions.

FBgn0000152

Pathways

Signaling Pathways (FlyBase)

Metabolic Pathways

FlyBase

External Links

External Data

Linkouts

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

Stimuli-sensing channels

Class of Gene

nuclear_gene

protein_coding_gene

Genomic Location and Detailed Mapping Data

Chromosome (arm)

Recombination map

1-55

Cytogenetic map

15A1-15A1

Sequence location

X:16,680,089..16,683,895 [-]

FlyBase Computed Cytological Location

Cytogenetic map

Evidence for location

15A1-15A1

Limits computationally determined from genome sequence between P{EP}EP1547^EP1547 and P{EP}CG4928^EP1341

Experimentally Determined Cytological Location

Cytogenetic map

Notes

References

15A1-15A1

(Hawley, 1998.10.26)

Experimentally Determined Recombination Data

Location

1-55

(FlyBase, 2016)

1-55.7

(Comeron et al., 2012)

1-54.9

(Whyte et al., 1993)

1-56

Left of (cM)

(Kramer and Hawley, 2003, Whyte et al., 1993)

Right of (cM)

(Kramer and Hawley, 2003, Whyte et al., 1993)

Notes

Not separated from f in 80 recombinants between v and car.

Stocks and Reagents

Stocks (6)

Aberrations including deletions of this gene Aberrations including duplications of this gene

Bloomington

85137

w¹¹¹⁸ PBac{RB}Axs^e02030

14866

y¹ w^67c23 P{EPgy2}Axs^EY00887

65027

y¹ sc^* v¹ sev²¹; P{TRiP.HMC05901}attP40

1637

y¹ cv¹ v¹ Axs^D car¹/Dp(1;Y)y⁺/C(1)DX, y¹ f¹; sv^spa-pol

VDRC

v100839

P{KK103665}VIE-260B

v6137

w¹¹¹⁸; P{GD3397}v6137/CyO

Genomic Clones (15)

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

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 JBrowse 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.

FBgn0000152

cDNA Clones, End Sequenced (ESTs)

BDGP DGC clones

Other clones

RNAi and Array Information

Linkouts

DRSC - Results frm RNAi screens

FBgn0000152

Antibody Information

Laboratory Generated Antibodies

Commercially Available Antibodies

Cell Line Information

Publicly Available Cell Lines

Other Stable Cell Lines

Other Comments

Examination of meiotic prophase in Axs mutants reveals that while heterochromatic pairing may be a component of the mechanism of homologous segregation, it is not sufficient to guarantee proper disjunction of nonexchange homologs.

(Dernburg et al., 1996)

The Axs defect reflects a failure of the ability of achiasmate X chromosomes to separate and is not a consequence of heterologous pairings or alignments. Mutations at Axs disrupt meiotic spindle formation. The Axs locus has no detectable function in male meiosis.

(Whyte et al., 1993)

Mutations at Axs are specific to female meiosis and disrupt meiotic spindle formation, affecting the segregation of non-exchange chromosomes. Mutant alleles increase the frequency of X and 4th chromosome non-disjunction.

Relationship to Other Genes

Source for database merge of

Additional comments

Nomenclature History

Source for database identify of

Nomenclature comments

Etymology

Synonyms and Secondary IDs (6)

Reported As

Symbol Synonym

Axs

(Hughes et al., 2018, Sun et al., 2012, Reis et al., 2011, Anderson et al., 2009, Behm-Ansmant et al., 2006, Mukai et al., 2006, Kramer and Hawley, 2003, Apionishev et al., 2001, Whyte et al., 1993, Zitron and Hawley, 1989)

CG9703

(Hosono et al., 2015, Keleman et al., 2009.8.5, Perkins et al., 2009, Kramer and Hawley, 2003)

axs

(Kramer and Hawley, 2005, Kramer et al., 2004, Hawley and Theurkauf, 1993)

Name Synonyms

Aberrant X segregation

Abnormal X segregation

(Mukai et al., 2006)

abnormal X segregation

(Flynn et al., 2007)

Secondary FlyBase IDs

Datasets (0)

Study focus (0)

Experimental Role

Project

Project Type

Title

Study result (0)

Result

Result Type

Title

External Crossreferences and Linkouts ( 39 )

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.

32645

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.

O97132

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

O97132

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.

O97132

DRscDB - A single-cell RNA-seq resource for data mining and data comparison across species

32645/tissue=All

EMBL-EBI Single Cell Expression Atlas - Single cell expression across species

FBgn0000152

FlyAtlas2 - A Drosophila melanogaster expression atlas with RNA-Seq, miRNA-Seq and sex-specific data

FBgn0000152

FlyMine - An integrated database for Drosophila genomics

FBgn0000152

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

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

dme:Dmel_CG9703

MARRVEL_MODEL - MARRVEL (model organism gene)

32645

Linkouts

BioGRID - A database of protein and genetic interactions.

58981

Drosophila Genomics Resource Center - Drosophila Genomics Resource Center (DGRC) cDNA clones

FBgn0000152

DroID - A comprehensive database of gene and protein interactions.

FBgn0000152

DRSC - Results frm RNAi screens

FBgn0000152

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

Axs_1

FlyAtlas - Adult expression by tissue, using Affymetrix Dros2 array

FBgn0000152

FlyCyc Genes - Genes from a BioCyc PGDB for Dmel

FBGN0000152

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

CG9703

Flygut - An atlas of the Drosophila adult midgut

FBgn0000152

FlyMet - A comprehensive tissue-specific metabolomics resource for Drosophila.

FBgn0000152

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

TC014620

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

Stimuli-sensing channels

References (57)

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

-1.05

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