1. Gene
  2. ATP6V0D1 - ATPase H+ transporting V0 subunit d1 Gene

ATP6V0D1 - ATPase H+ transporting V0 subunit d1 Gene

Homo sapiens

Also known as P39; VATX; VMA6; ATP6D; ATP6DV; VPATPD

Gene ID: 9114 | Gene type: protein coding

About ATP6V0D1

Cytogenetic location: 16q22.1 Genomic coordinates (GRCh38): 16:67,438,019-67,481,157 (from NCBI)

This gene has 17 transcripts (splice variants), 210 orthologues and 1 paralogue. Ubiquitous expression in brain (RPKM 53.8), thyroid (RPKM 41.0) 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 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 known as the D subunit and is found ubiquitously. [provided by RefSeq, Jul 2008]

ATP6V0D1 Products(1)

mRNA Protein Name
NM_004691.5 NP_004682.2 V-type proton ATPase subunit d 1

ATP6V0D1 Protein Structure

vATP-synt_AC39

vATP-synt_AC39: ATP synthase (C/AC39) subunit (15 - 348)

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  • 351 a.a.
Protein Preferred Names Protein Names

V-type proton ATPase subunit d 1

32 kDa accessory protein

Related Diseases

Diseases Alias
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
Mus musculus ATP6V0D1 MGD MGI:1201778
Bos taurus ATP6V0D1 VGNC VGNC:26312
Rattus norvegicus ATP6V0D1 RGD RGD:1306159
Canis familiaris ATP6V0D1 VGNC VGNC:38273
Felis catus ATP6V0D1 VGNC VGNC:60022
Macaca mulatta ATP6V0D1 VGNC VGNC:99485