InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ATP6V1B1

Summary

InnateDB Protein

IDBP-55735.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ATP6V1B1

Protein Name

ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1

Synonyms

ATP6B1; RTA1B; VATB; VMA2; VPP3;

Species

Homo sapiens

Ensembl Protein

ENSP00000234396

InnateDB Gene

IDBG-55733 (ATP6V1B1)

Protein Structure

UniProt Annotation

Function

Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.

Subcellular Localization

Endomembrane system; Peripheral membrane protein. Note=Endomembrane.

Disease Associations

Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300]: An autosomal recessive disease characterized by the association of renal distal tubular acidosis with sensorineural hearing loss. Distal renal tubular acidosis is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha- intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. {ECO:0000269PubMed:12414817, ECO:0000269PubMed:12579397, ECO:0000269PubMed:9916796}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in the cochlea and endolymphatic sac. {ECO:0000269PubMed:9916796}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 88 experimentally validated interaction(s) in this database.

Experimentally validated
Total	88 [view]
Protein-Protein	88 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005524	ATP binding
GO:0015078	hydrogen ion transmembrane transporter activity
GO:0016820	hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances
GO:0032403	protein complex binding

Biological Process

GO:0001503	ossification
GO:0006879	cellular iron ion homeostasis
GO:0006885	regulation of pH
GO:0007588	excretion
GO:0007605	sensory perception of sound
GO:0008286	insulin receptor signaling pathway
GO:0015991	ATP hydrolysis coupled proton transport
GO:0015992	proton transport
GO:0033572	transferrin transport
GO:0042472	inner ear morphogenesis
GO:0045851	pH reduction
GO:0046034	ATP metabolic process
GO:0051701	interaction with host
GO:0055074	calcium ion homeostasis
GO:0055085	transmembrane transport
GO:0090382	phagosome maturation

Cellular Component

GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005902	microvillus
GO:0012505	endomembrane system
GO:0016020	membrane
GO:0016323	basolateral plasma membrane
GO:0016324	apical plasma membrane
GO:0016328	lateral plasma membrane
GO:0016471	vacuolar proton-transporting V-type ATPase complex
GO:0033178	proton-transporting two-sector ATPase complex, catalytic domain
GO:0033180	proton-transporting V-type ATPase, V1 domain
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR000194 ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain
IPR000793 ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal
IPR004100 ATPase, F1 complex alpha/beta subunit, N-terminal domain
IPR005723 ATPase, V1 complex, subunit B
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00006
PF00306
PF02874

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P15313

PhosphoSite