help  | about  | cite  | software

Gene : ATP6V1B1 Homo sapiens

Name  ? ATPase H+ transporting V1 subunit B1 Cytological Location  2p13.3
Brief Description  ATPase H transporting V1 subunit B1
Description  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]
  • synonyms:
  • ATP6V1B1,
  • VPP3,
  • ATP6B1,
  • VPP3,
  • vacuolar proton pump 3,
  • AF107466,
  • Renal tubular acidosis with deafness,
  • NM_001692,
  • Vma2,
  • uc002shj.4,
  • RTA1B,
  • VATB,
  • HGNC:853,
  • OTTHUMG00000129711,
  • ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1,
  • VATB,
  • RTA1B,
  • ATP6B1,
  • VMA2
  • identifiers:
  • 525,
  • ENSG00000116039,
  • ATP6V1B1

Genome feature

Region: gene ? Length: 29532  
Location: 2:70935900-70965431 Cyto location: 2p13.3


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Gene --> Orthologues

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

682 SN Ps

5 Cross References

19 Data Sets

9 Homologues

0 Located Features

97 Rna Seq Results