Gene

atp6v1ba

ID

ZDB-GENE-030711-3

Name

ATPase, H+ transporting, lysosomal, V1 subunit B, member a

Symbol

atp6v1ba Nomenclature History

Previous Names

vatB1 (1)
cb927 (1)
fb52g11
wu:fb52g11 (1)

Type

protein_coding_gene

Location

Chr: 17 Mapping Details/Browsers

Description

Predicted to enable proton-transporting ATPase activity, rotational mechanism. Predicted to be involved in vacuolar acidification. Predicted to act upstream of or within ATP metabolic process and proton transmembrane transport. Predicted to be part of proton-transporting V-type ATPase, V1 domain. Is expressed in several structures, including mucus secreting cell; nervous system; notochord; polster; and yolk syncytial layer. Human ortholog(s) of this gene implicated in autosomal dominant congenital deafness with onychodystrophy. Orthologous to human ATP6V1B2 (ATPase H+ transporting V1 subunit B2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

9 figures from 4 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

cb927 (15 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 4 figures from Ikeuchi et al., 2024
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With atp6v1ba Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
autosomal dominant congenital deafness with onychodystrophy	Alliance	Deafness, congenital, with onychodystrophy, autosomal dominant	124480
		Zimmermann-Laband syndrome 2	616455

Associated With atp6v1ba 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
Family	IPR005723	ATPase, V1 complex, subunit B
Family	IPR022879	V-type ATP synthase regulatory subunit B/beta
Homologous_superfamily	IPR027417	P-loop containing nucleoside triphosphate hydrolase