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Gene : APTX Homo sapiens

Name  ? aprataxin Cytological Location  9p21.1
Brief Description  aprataxin
Description  This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010]
  • synonyms:
  • ataxia 1, early onset with hypoalbuminemia,
  • EOAHA,
  • AOA,
  • HGNC:15984,
  • FHA-HIT,
  • AOA1,
  • EAOH,
  • NM_017692,
  • EOAHA,
  • APTX,
  • AXA1,
  • uc064snf.1,
  • AOA1,
  • OTTHUMG00000019759,
  • FLJ20157,
  • AK000164,
  • AXA1,
  • EAOH,
  • AOA
  • identifiers:
  • 54840,
  • ENSG00000137074,
  • APTX

Genome feature

Region: gene ? Length: 141249  
Location: 9:32883872-33025120 reverse strand Cyto location: 9p21.1

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



0 Pathways

3753 SN Ps

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results