ATP6V1H

GENE INFORMATION

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Gene name

ATP6V1H (HGNC Symbol)

Synonyms

CGI-11, SFD, SFDalpha, SFDbeta, VMA13

Description

ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H (HGNC Symbol)

Entrez gene 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]

Chromosome

8

Cytoband

q11.23

Chromosome location (bp)

53715557 - 53843558

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000047249 (version 78.38)

Entrez gene

51606

UniProt

Q9UI12 (UniProt - Evidence at protein level)

neXtProt

NX_Q9UI12

Antibodypedia

ATP6V1H antibodies
 

PROTEIN VIEW

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ATP6V1H-001
 
ATP6V1H-002
 
ATP6V1H-004
 
ATP6V1H-005
 
ATP6V1H-006
 
ATP6V1H-010
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ATP6V1H-001 ENSP00000347359
ENST00000355221
Q9UI12
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Show » Show » 465 54.2 No 0
ATP6V1H-002 ENSP00000352522
ENST00000359530
Q9UI12
Show all »
Show » Show » 483 55.9 No 0
ATP6V1H-004 ENSP00000429947
ENST00000520188
G3V126
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Show » Show » 443 51.6 No 0
ATP6V1H-005 ENSP00000379995
ENST00000396774
Q9UI12
Show all »
Show » Show » 483 55.9 No 0
ATP6V1H-006 ENSP00000427835
ENST00000524234
E5RG49
Show all »
Show » Show » 101 11.5 No 0
ATP6V1H-010 ENSP00000429786
ENST00000521275
E5RHH0
Show all »
Show » Show » 102 11.7 No 0