Gene

atp6v1aa

ID

ZDB-GENE-040426-1143

Name

ATPase H+ transporting V1 subunit Aa

Symbol

atp6v1aa Nomenclature History

Previous Names

atp6v1al
HA (1)
zgc:63516

Type

protein_coding_gene

Location

Chr: 5 Mapping Details/Browsers

Description

Exhibits proton transmembrane transporter activity. Involved in cellular calcium ion homeostasis; cellular sodium ion homeostasis; and proton transmembrane transport. Predicted to localize to apical plasma membrane and vacuolar membrane. Human ortholog(s) of this gene implicated in autosomal recessive cutis laxa type IID and childhood onset epileptic encephalopathy. Is expressed in several structures, including extension; hatching gland; integument; polster; and sensory system. Orthologous to human ATP6V1A (ATPase H+ transporting V1 subunit A).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

36 figures from 19 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

MGC:63516 (14 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 9 figures from 5 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With atp6v1aa Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
autosomal recessive cutis laxa type IID	Alliance	Cutis laxa, autosomal recessive, type IID	617403
developmental and epileptic encephalopathy 93	Alliance	Developmental and epileptic encephalopathy 93	618012

Associated With atp6v1aa Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Active_site	IPR020003	ATPase, alpha/beta subunit, nucleotide-binding domain, active site
Domain	IPR000194	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain
Domain	IPR004100	ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal domain
Domain	IPR031686	ATPsynthase alpha/beta subunit, N-terminal extension
Family	IPR005725	ATPase, V1 complex, subunit A
Family	IPR022878	V-type ATP synthase catalytic alpha chain
Homologous_superfamily	IPR023366	ATP synthase subunit alpha, N-terminal domain-like superfamily
Homologous_superfamily	IPR024034	ATPase, F1/V1 complex, beta/alpha subunit, C-terminal
Homologous_superfamily	IPR027417	P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily	IPR036121	ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal domain superfamily