Gene

atp6ap1b

ID

ZDB-GENE-020423-2

Name

ATPase H+ transporting accessory protein 1b

Symbol

atp6ap1b Nomenclature History

Previous Names

atp6ap1
atp6s1
bbl
bleached blond
etID36826.23 (1)
fb33b05
wu:fb33b05 (1)
zgc:103523

Type

protein_coding_gene

Location

Chr: 23 Mapping Details/Browsers

Description

Predicted to have proton-transporting ATP synthase activity, rotational mechanism and proton-transporting ATPase activity, rotational mechanism. Involved in several processes, including Kupffer's vesicle development; pigment granule organization; and retinal pigment epithelium development. Localizes to plasma membrane. Human ortholog(s) of this gene implicated in primary immunodeficiency disease. Is expressed in several structures, including Kupffer's vesicle; digestive system; forerunner cell group; integument; and pleuroperitoneal region. Orthologous to human ATP6AP1 (ATPase H+ transporting accessory protein 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

15 figures from 7 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

MGC:103523 (16 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 24 figures from 8 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With atp6ap1b Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
immunodeficiency 47	Alliance	Immunodeficiency 47	300972

Associated With atp6ap1b Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR046755	V-type proton ATPase subunit S1, luminal domain
Domain	IPR046756	V-type proton ATPase subunit S1/VOA1, transmembrane domain
Family	IPR008388	V0 complex accessory subunit Ac45