atp6v1ab

ID

ZDB-GENE-030131-9529

Name

ATPase H+ transporting V1 subunit Ab

Symbol

atp6v1ab Nomenclature History

Previous Names

atp6v1a
im:7154831
wu:fj85a05

Type

protein_coding_gene

Location

Chr: 24 Mapping Details/Browsers

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to enable proton-transporting ATPase activity, rotational mechanism. Predicted to be involved in proton transmembrane transport. Predicted to be located in apical plasma membrane. Predicted to be part of proton-transporting V-type ATPase, V1 domain. Is expressed in several structures, including integument ionocyte; lateral line ganglion; neural crest; yolk; and yolk syncytial layer. Human ortholog(s) of this gene implicated in autosomal recessive cutis laxa type IID and developmental and epileptic encephalopathy 93. Orthologous to human ATP6V1A (ATPase H+ transporting V1 subunit A).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

15 figures from 5 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7154831 (14 images)

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 atp6v1ab 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 atp6v1ab 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, barrel-sandwich domain
Domain	IPR055190	ATP synthase A/B type, C-terminal domain
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