Gene

aptx

ID
ZDB-GENE-040628-2
Name
aprataxin
Symbol
aptx Nomenclature History
Previous Names
  • FHA-HIT (1)
Type
protein_coding_gene
Location
Chr: 1 Mapping Details/Browsers
Description
Predicted to have DNA 5'-adenosine monophosphate hydrolase activity and nucleic acid binding activity. Predicted to be involved in double-strand break repair and single strand break repair. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in ataxia with oculomotor apraxia type 1 and olivopontocerebellar atrophy. Orthologous to human APTX (aprataxin).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With aptx Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
ataxia with oculomotor apraxia type 1 Alliance Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 208920
Associated With aptx Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR019808 Histidine triad, conserved site
Domain IPR000253 Forkhead-associated (FHA) domain
Domain IPR011146 HIT-like domain
Domain IPR013087 Zinc finger C2H2-type
Domain IPR032566 Aprataxin, C2HE/C2H2/C2HC zinc finger
Domain IPR041388 PNK, FHA domain
Family IPR026963 Aprataxin-like
Homologous_superfamily IPR008984 SMAD/FHA domain superfamily
Homologous_superfamily IPR036265 HIT-like superfamily
Domain Details Per Protein
Protein Length Aprataxin, C2HE/C2H2/C2HC zinc finger Aprataxin-like Forkhead-associated (FHA) domain Histidine triad, conserved site HIT-like domain HIT-like superfamily PNK, FHA domain SMAD/FHA domain superfamily Zinc finger C2H2-type
UniProtKB:H0WEM9 247
UniProtKB:B8A444 324
UniProtKB:P61799 324
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations