|  Help  |  About  |  Contact Us

Protein Coding Gene : Aptx aprataxin

Primary Identifier  MGI:1913658 Organism  mouse, laboratory
Chromosome  4 NCBI Gene Number  66408
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables DNA 5'-adenosine monophosphate hydrolase activity. Involved in single strand break repair. Acts upstream of or within DNA ligation. Predicted to be located in nucleolus and nucleoplasm. Predicted to be part of chromatin. Predicted to be active in nucleus. Is expressed in several structures, including brain; cardiovascular system; genitourinary system; gut; and respiratory system. Human ortholog(s) of this gene implicated in ataxia with oculomotor apraxia type 1 and olivopontocerebellar atrophy. Orthologous to human APTX (aprataxin).
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defects in single-strand DNA break repair. [provided by MGI curators]
  • synonyms:
  • RIKEN cDNA 2410016G21 gene,
  • 2410016G21Rik,
  • AA388047,
  • Aptx,
  • aprataxin,
  • expressed sequence AA388047,
  • MGI:3035118

Features --> Cross References

Genome

Sequence Feature Displayer

JG Browse Displayer

0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

1 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

0 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For