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

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

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	IPR011146	HIT-like domain
Domain	IPR013087	Zinc finger C2H2-type
Domain	IPR032566	Aprataxin, C2HE/C2H2/C2HC zinc finger
Domain	IPR041388	PNK, FHA domain
Domain	IPR047289	Aprataxin, forkhead associated domain
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, forkhead associated domain	Histidine triad, conserved site	HIT-like domain	HIT-like superfamily	PNK, FHA domain	SMAD/FHA domain superfamily	Zinc finger C2H2-type
UniProtKB:A0A8M3ALA1 InterPro	324
UniProtKB:P61799 InterPro	324
UniProtKB:A0A8M3ASZ3 InterPro	275

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	aptx-201 (1) Ensembl	Ensembl	1,303 nt	Select Tool
mRNA	aptx-203 (1) Ensembl	Ensembl	797 nt	Select Tool
ncRNA	aptx-002 (1) Ensembl	Ensembl	867 nt	Select Tool

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