ATP6V1B1

GENE INFORMATION

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Gene name

ATP6V1B1 (HGNC Symbol)

Synonyms

ATP6B1, RTA1B, VATB, Vma2, VPP3

Description

ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (HGNC Symbol)

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]

Chromosome

2

Cytoband

p13.3

Chromosome location (bp)

70935882 - 70965406

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000116039 (version 78.38)

Entrez gene

525

UniProt

P15313 (UniProt - Evidence at protein level)

neXtProt

NX_P15313

Antibodypedia

ATP6V1B1 antibodies
 

PROTEIN VIEW

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ATP6V1B1-001
 
ATP6V1B1-005
 
ATP6V1B1-006
 
ATP6V1B1-007
 
ATP6V1B1-010
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ATP6V1B1-001 ENSP00000234396
ENST00000234396
P15313
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Show » Show » 513 56.8 No 0
ATP6V1B1-005 ENSP00000388353
ENST00000412314
C9JL73
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Show » Show » 496 55.1 No 0
ATP6V1B1-006 ENSP00000387599
ENST00000432098
C9JTN0
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Show » 74 8 No 0
ATP6V1B1-007 ENSP00000408361
ENST00000454446
C9JNS9
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Show » Show » 249 26.7 No 0
ATP6V1B1-010 ENSP00000407840
ENST00000433895
C9JZ02
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Show » Show » 118 13.4 No 0