1. Gene
  2. ATP6V1G1 - ATPase H+ transporting V1 subunit G1 Gene

ATP6V1G1 - ATPase H+ transporting V1 subunit G1 Gene

Homo sapiens

Also known as ATP6G; ATP6J; Vma10; ATP6G1; ATP6GL

Gene ID: 9550 | Gene type: protein coding

About ATP6V1G1

Cytogenetic location: 9q32 Genomic coordinates (GRCh38): 9:114,587,769-114,598,879 (from NCBI)

This gene has 8 transcripts (splice variants), 210 orthologues and 2 paralogues. Ubiquitous expression in prostate (RPKM 73.2), adrenal (RPKM 65.5) and 25 other tissues.

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, 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. The protein encoded by this gene is one of three V1 domain G subunit proteins. Pseudogenes of this gene have been characterized. [provided by RefSeq, Jul 2008]

ATP6V1G1 Products(1)

mRNA Protein Name
NM_004888.4 NP_004879.1 V-type proton ATPase subunit G 1

ATP6V1G1 Protein Structure

V-ATPase_G

V-ATPase_G: Vacuolar (H+)-ATPase G subunit (3 - 106)

  • 0
  • 100
  • 118 a.a.
Protein Preferred Names Protein Names

V-type proton ATPase subunit G 1

ATPase, H+ transporting, lysosomal (vacuolar proton pump), member J

Related Diseases

Diseases Alias
Optic Atrophy 6

OPA6

Optic Atrophy, Congenital Or Early Infantile, Autosomal Recessive

Distal Renal Tubular Acidosis

Classic Rta

Familial Distal Primary Acidosis

Renal Tubular Acidosis Type 1

Drta

Renal Tubular Acidosis, Distal

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus ATP6V1G1 VGNC VGNC:26324
Rattus norvegicus ATP6V1G1 RGD RGD:1310088
Macaca mulatta ATP6V1G1 VGNC VGNC:104876
Mus musculus ATP6V1G1 MGD MGI:1913540