help  | about  | cite  | software

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:
  • FHA-HIT,
  • AOA1,
  • AXA1,
  • OTTHUMG00000019759,
  • AOA,
  • EOAHA,
  • AK000164,
  • EOAHA,
  • HGNC:15984,
  • APTX,
  • EAOH,
  • NM_017692,
  • FLJ20157,
  • uc064snf.1,
  • AXA1,
  • AOA,
  • ataxia 1, early onset with hypoalbuminemia,
  • EAOH,
  • AOA1
  • identifiers:
  • 54840,
  • ENSG00000137074,
  • APTX

Genome feature

Region: gene ? Length: 141260  
Location: 9:32883872-33025131 reverse strand Cyto location: 9p21.1


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

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]

Homology

Homologue Displayer

Gene --> Orthologues

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

2011 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

90 Rna Seq Results