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

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to enable ATP binding activity and proton-transporting ATPase activity, rotational mechanism. Predicted to be involved in proton transmembrane transport and vacuolar acidification. Predicted to be located in clathrin-coated vesicle membrane; melanosome; and synaptic vesicle membrane. Predicted to be part of vacuolar proton-transporting V-type ATPase, V1 domain. Predicted to be active in apical plasma membrane. 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
Domain	IPR055190	ATP synthase A/B type, C-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