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Aptx
Gene Detail
Symbol

Name
ID
Aptx
aprataxin
MGI:1913658
Synonyms
2410016G21Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 4
20.46 cM, cytoband B1
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr4:40682382-40703194 bp, - strand
From VEGA annotation of GRCm38

  20813 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:41634  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: APTX
Gene Tree: Aptx

Human
homologs
APTX, aprataxin
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 54840
neXtProt AC: NX_Q7Z2E3

Human Synonyms: AOA, AOA1, AXA1, EAOH, EOAHA, FHA-HIT

Human Chr (Location): 9p13.3; chr9:32972606-33025138 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human APTX

Mutations,
alleles, and
phenotypes
All mutations/alleles(13) : Gene trapped(8) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
Interactions
Aptx interacts with 359 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (37 annotations)
Process cellular response to DNA damage stimulus, dephosphorylation, ...
Component chromatin, nuclear chromatin, ...
Function catalytic activity, chromatin binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (1 records)
cDNA source data(50)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase aptx    NEW 
Molecular
reagents
All nucleic(52) cDNA(52)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000006564 (Evidence)
Ensembl Gene Model ENSMUSG00000028411 (Evidence)
Entrez Gene 66408 (Evidence)
UniGene 430710
DFCI TC1679043, TC1666084, TC1628409, TC1580512
DoTS DT.101174836, DT.531417
NIA Mouse Gene Index U024958
EC 3.-.-.-
Consensus CDS Project CCDS38711.1, CCDS38712.1
International Mouse Phenotyping Consortium Status Aptx
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000006564 VEGA Gene Model | MGI Sequence Detail 20813 C57BL/6J ±  kb
transcript OTTMUST00000014996 VEGA | MGI Sequence Detail 5383 Not Applicable 
polypeptide OTTMUSP00000006929 VEGA | MGI Sequence Detail 342 Not Applicable 

For the selected sequences
All sequences(69) RefSeq(20) UniProt(3)
Polymorphisms
SNPs within 2kb(73 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR026963 Aprataxin-like protein
InterPro IPR000253 Forkhead-associated (FHA) domain
InterPro IPR019808 Histidine triad, conserved site
InterPro IPR001310 Histidine triad (HIT) protein
InterPro IPR011146 HIT-like domain
InterPro IPR008984 SMAD/FHA domain
InterPro IPR007087 Zinc finger, C2H2
InterPro IPR015880 Zinc finger, C2H2-like
Protein Ontology PR:000004176 aprataxin
References
(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:218098 Carroll J, et al., Expression of a pathogenic mutation of SOD1 sensitizes aprataxin-deficient cells and mice to oxidative stress and triggers hallmarks of premature ageing. Hum Mol Genet. 2015 Feb 1;24(3):828-40
All references(46)
Other
accession IDs
MGI:3035118

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory