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 zebrafish

Gene Tree: Aptx

Human homologs

Human Homolog		APTX, aprataxin
NCBI Gene ID		54840
neXtProt AC		NX_Q7Z2E3
Human Synonyms		AOA, AOA1, AXA1, EAOH, EOAHA, FHA-HIT
Human Chr (Location)		9p13.3; chr9:32972604-33001639 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human APTX

Alleles and phenotypes

All alleles(12) : Targeted(4) Gene trapped(8)
 

Mice homozygous for a knock-out allele exhibit defective short-patch repair of adenylated oxidative single strand breaks.

 

Gene Ontology (GO) classifications

All GO classifications: (29 annotations)

Process	DNA ligation, DNA repair, ...
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(51)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(53) cDNA(53)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000006564 (Evidence)
Ensembl Gene Model	ENSMUSG00000028411 (Evidence)
Entrez Gene	66408 (Evidence)
UniGene	430710
DFCI	TC1580512, TC1628409, TC1666084, TC1679043
DoTS	DT.101174836, DT.531417
NIA Mouse Gene Index	U024958
EC	3.-.-.-
Consensus CDS Project	CCDS38711.1, CCDS38712.1
International Mouse Knockout Project Status	Aptx

Sequences

Length	Strain/Species
genomic	OTTMUSG00000006564	VEGA Gene Model | MGI Sequence Detail	20813	C57BL/6J
transcript	OTTMUST00000014996	VEGA | MGI Sequence Detail	5383	Not Applicable
polypeptide	OTTMUSP00000006929	VEGA | MGI Sequence Detail	342	Not Applicable

All sequences(55) RefSeq(5) UniProt(5)

Polymorphisms

SNPs(67 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:170077 Gao Y, et al., DNA ligase III is critical for mtDNA integrity but not Xrcc1-mediated nuclear DNA repair. Nature. 2011 Mar 10;471(7337):240-4
All references(43)

Other accession IDs

MGI:3035118