help  | about  | cite  | software

Gene : ATP6V1E1 Homo sapiens

Name  ? ATPase H+ transporting V1 subunit E1 Cytological Location  22q11.21
Brief Description  ATPase H transporting V1 subunit E1
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, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq, Jul 2008]
  • synonyms:
  • ARCL2C,
  • HGNC:857,
  • Vma4,
  • ATP6E2,
  • ATP6V1E,
  • ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1,
  • ATP6V1E1,
  • NM_001696,
  • ATP6E,
  • ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD,
  • ATP6V1E,
  • uc002zmr.3,
  • P31,
  • P31,
  • X76228,
  • ATP6E2,
  • OTTHUMG00000059320,
  • ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 1,
  • ATP6E,
  • Vma4
  • identifiers:
  • 529,
  • ENSG00000131100,
  • ATP6V1E1

Genome feature

Region: gene ? Length: 36687  
Location: 22:17592136-17628822 reverse strand Cyto location: 22q11.21


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

3756 SN Ps

5 Cross References

19 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results