1. Gene
  2. ATP6V1C1 - ATPase H+ transporting V1 subunit C1 Gene

ATP6V1C1 - ATPase H+ transporting V1 subunit C1 Gene

Homo sapiens

Also known as VATC; Vma5; ATP6C; ATP6D

Gene ID: 528 | Gene type: protein coding

About ATP6V1C1

Cytogenetic location: 8q22.3 Genomic coordinates (GRCh38): 8:103,021,083-103,073,051 (from NCBI)

This gene has 6 transcripts (splice variants), 278 orthologues and 1 paralogue. Ubiquitous expression in brain (RPKM 32.3), thyroid (RPKM 16.6) and 24 other tissues.

Summary

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit Enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent 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 gene is one of two genes that encode the V1 domain C subunit proteins and is found ubiquitously. This C subunit is analogous but not homologous to gamma subunit of F-ATPases. Previously, this gene was designated ATP6D. [provided by RefSeq, Jul 2008]

ATP6V1C1 Products(1)

mRNA Protein Name
NM_001695.5 NP_001686.1 V-type proton ATPase subunit C 1

ATP6V1C1 Protein Structure

V-ATPase_C

V-ATPase_C: V-ATPase subunit C (4 - 370)

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  • 382 a.a.
Protein Preferred Names Protein Names

V-type proton ATPase subunit C 1

ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1

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
Macaca mulatta ATP6V1C1 VGNC VGNC:70186
Felis catus ATP6V1C1 VGNC VGNC:68679
Bos taurus ATP6V1C1 VGNC VGNC:26319
Mus musculus ATP6V1C1 MGD MGI:1913585
Rattus norvegicus ATP6V1C1 RGD RGD:1311082
Canis familiaris ATP6V1C1 VGNC VGNC:38278