2. Gene
  3. ATP6V1H - ATPase H+ transporting V1 subunit H Gene

ATP6V1H - ATPase H+ transporting V1 subunit H Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as SFD; NBP1; VMA13; CGI-11; MSTP042; SFDbeta; SFDalpha

Gene ID: 51606 | Gene type: protein coding

About ATP6V1H

Cytogenetic location: 8q11.23 Genomic coordinates (GRCh38): 8:53,715,543-53,843,245 (from NCBI)

This gene has 19 transcripts (splice variants) and 220 orthologues. Ubiquitous expression in brain (RPKM 40.0), kidney (RPKM 25.7) and 25 other tissues.

Summary

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit Enzyme that mediates acidification of intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

ATP6V1H Products(3)

mRNA Protein Name
NM_015941.4 NP_057025.2 V-type proton ATPase subunit H isoform 1
NM_213619.3 NP_998784.1 V-type proton ATPase subunit H isoform 2
NM_213620.3 NP_998785.1 V-type proton ATPase subunit H isoform 1

ATP6V1H Protein Structure

V-ATPase_H_N

V-ATPase_H_N: V-ATPase subunit H (19 - 342)

V-ATPase_H_C

V-ATPase_H_C: V-ATPase subunit H (348 - 465)

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  • 483 a.a.
Protein Preferred Names Protein Names

V-type proton ATPase subunit H

ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H

Related Diseases

Diseases Alias
Lateral Meningocele Syndrome

Lehman Syndrome

Lms

LMNS

Meningocele, Lateral Syndrome
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS01234 ATP6V1H Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus ATP6V1H VGNC VGNC:60026
Bos taurus ATP6V1H VGNC VGNC:26326
Rattus norvegicus ATP6V1H RGD RGD:1562450
Canis familiaris ATP6V1H VGNC VGNC:38284
Mus musculus ATP6V1H MGD MGI:1914864
Macaca mulatta ATP6V1H VGNC VGNC:70094