Format

Send to:

Choose Destination

ATP6V1B1 ATPase H+ transporting V1 subunit B1 [ Homo sapiens (human) ]

Gene ID: 525, updated on 23-Nov-2021

Summary

Official Symbol
ATP6V1B1provided by HGNC
Official Full Name
ATPase H+ transporting V1 subunit B1provided by HGNC
Primary source
HGNC:HGNC:853
See related
Ensembl:ENSG00000116039 MIM:192132
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
VATB; VMA2; VPP3; DRTA2; RTA1B; ATP6B1
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]
Expression
Biased expression in kidney (RPKM 35.1), salivary gland (RPKM 28.3) and 1 other tissue See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See ATP6V1B1 in Genome Data Viewer
Location:
2p13.3
Exon count:
15
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (70935900..70965431)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (71163030..71192561)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1143 Neighboring gene ventral anterior homeobox 2 Neighboring gene ATP6V1B1 antisense RNA 1 Neighboring gene elongin C pseudogene 21 Neighboring gene RNA, 7SL, cytoplasmic 160, pseudogene Neighboring gene uncharacterized LOC105374795 Neighboring gene ankyrin repeat domain 53

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Nef nef Genome-wide shRNA screening identifies ATP6V1B1, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC32642

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
enables proton transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Process Evidence Code Pubs
involved_in ATP metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in adult behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in calcium ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in chloride ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in excretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in inner ear morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in olfactory behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in ossification IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in pH reduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in potassium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in prostaglandin metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in proton transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of macroautophagy NAS
Non-traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within regulation of pH IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of pH IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in renal sodium excretion IEA
Inferred from Electronic Annotation
more info
 
involved_in renal sodium ion transport IEA
Inferred from Electronic Annotation
more info
 
involved_in renal water homeostasis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in vacuolar proton-transporting V-type ATPase complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in basolateral plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 
located_in extrinsic component of synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
located_in lateral plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in microvillus ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
part_of vacuolar proton-transporting V-type ATPase complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
part_of vacuolar proton-transporting V-type ATPase, V1 domain IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
V-type proton ATPase subunit B, kidney isoform
Names
ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
H(+)-transporting two-sector ATPase, 58kD subunit
H+-ATPase beta 1 subunit
V-ATPase B1 subunit
V-ATPase subunit B 1
endomembrane proton pump 58 kDa subunit
vacuolar proton pump 3
vacuolar proton pump subunit B 1
vacuolar proton pump, subunit 3
NP_001683.2
XP_011531209.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008016.1 RefSeqGene

    Range
    5033..34564
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1176

mRNA and Protein(s)

  1. NM_001692.4NP_001683.2  V-type proton ATPase subunit B, kidney isoform

    See identical proteins and their annotated locations for NP_001683.2

    Status: REVIEWED

    Source sequence(s)
    AI769776, AK313194, BC063411
    Consensus CDS
    CCDS1912.1
    UniProtKB/Swiss-Prot
    P15313
    Related
    ENSP00000234396.4, ENST00000234396.10
    Conserved Domains (1) summary
    TIGR01040
    Location:40503
    V-ATPase_V1_B; V-type (H+)-ATPase V1, B subunit

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    70935900..70965431
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532907.2XP_011531209.1  V-type proton ATPase subunit B, kidney isoform isoform X1

    Conserved Domains (4) summary
    cd01135
    Location:152435
    V_A-ATPase_B; V/A-type ATP synthase (non-catalytic) subunit B. These ATPases couple ATP hydrolysis to the build up of a H+ gradient, but V-type ATPases do not catalyze the reverse reaction. The Vacuolar (V-type) ATPase is found in the membranes of vacuoles, the golgi ...
    TIGR01040
    Location:99543
    V-ATPase_V1_B; V-type (H+)-ATPase V1, B subunit
    pfam00306
    Location:450543
    ATP-synt_ab_C; ATP synthase alpha/beta chain, C terminal domain
    pfam02874
    Location:98150
    ATP-synt_ab_N; ATP synthase alpha/beta family, beta-barrel domain
Support Center