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 enable 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 act upstream of or within DNA repair. Predicted to be located in nucleolus and nucleoplasm. Predicted to be active in 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 ZFIN BLAST
mRNA	aptx-203 (1) Ensembl	Ensembl	797 nt	Select Tool ZFIN BLAST
ncRNA	aptx-002 (1) Ensembl	Ensembl	867 nt	Select Tool ZFIN BLAST

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