InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: ATP6V1B1

Summary

InnateDB Gene

IDBG-55733.6

Last Modified

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

Gene Symbol

ATP6V1B1

Gene Name

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

Synonyms

ATP6B1; RTA1B; VATB; VMA2; VPP3

Species

Homo sapiens

Ensembl Gene

ENSG00000116039

Encoded Proteins

IDBP-55735

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

IDBP-378840

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

IDBP-378841

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

IDBP-378846

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

IDBP-378851

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

IDBP-378855

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

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness. [provided by RefSeq, Jul 2008]
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c\', c\'\', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 2:70935882-70965406

Strand

Forward strand

Band

p13.3

Transcripts

ENST00000234396	ENSP00000234396
ENST00000432367	ENSP00000405114
ENST00000412314	ENSP00000388353
ENST00000454446	ENSP00000408361
ENST00000432098	ENSP00000387599
ENST00000433895	ENSP00000407840
ENST00000463380
ENST00000495118

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

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000006269

View Gene Order

ENSBTAG00000010620

Not yet available

Pathways

NETPATH

REACTOME

REACT_25283

Transferrin endocytosis and recycling pathway

REACT_25060

Iron uptake and transport pathway

REACT_1109

Insulin receptor recycling pathway

REACT_498

Signaling by Insulin receptor pathway

REACT_121256

Phagosomal maturation (early endosomal stage) pathway

REACT_15518

Transmembrane transport of small molecules pathway

REACT_111102

Signal Transduction pathway

REACT_121237

Latent infection of Homo sapiens with Mycobacterium tuberculosis pathway

REACT_116125

Disease pathway

KEGG

hsa05110

Vibrio cholerae infection pathway

hsa05120

Epithelial cell signaling in Helicobacter pylori infection pathway

hsa00190

Oxidative phosphorylation pathway

hsa04966

Collecting duct acid secretion pathway

hsa04145

Phagosome pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

C9JZ02

UniProt Splice Variant

Entrez Gene

525

UniGene

Hs.64173

RefSeq

NM_001692

HUGO

HGNC:853

OMIM

192132

CCDS

CCDS1912

HPRD

01887

IMGT

EMBL

AC007040

GenPept

RNA Seq Atlas

525