InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: ATP6V1H

Summary

InnateDB Gene

IDBG-21670.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ATP6V1H

Gene Name

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

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000047249

Encoded Proteins

IDBP-21672

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

IDBP-21674

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

IDBP-236754

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

IDBP-482562

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

IDBP-479364

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

IDBP-482339

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

IDBP-476614

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

IDBP-483970

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

IDBP-479087

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

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 8:53715557-53843558

Strand

Reverse strand

Band

q11.23

Transcripts

ENST00000359530	ENSP00000352522
ENST00000355221	ENSP00000347359
ENST00000396774	ENSP00000379995
ENST00000518072
ENST00000522159
ENST00000523343
ENST00000520188	ENSP00000429947
ENST00000523899
ENST00000524164	ENSP00000428255
ENST00000523426
ENST00000521707
ENST00000521900
ENST00000522849	ENSP00000428625
ENST00000521377
ENST00000519588	ENSP00000428969
ENST00000521275	ENSP00000429786
ENST00000524234	ENSP00000427835
ENST00000521335
ENST00000519922

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 31 experimentally validated interaction(s) in this database.

Experimentally validated
Total	31 [view]
Protein-Protein	30 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005488	binding
GO:0005515	protein binding
GO:0016820	hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances
GO:0016887	ATPase activity
GO:0030234	enzyme regulator activity
GO:0046961	proton-transporting ATPase activity, rotational mechanism

Biological Process

GO:0006200	ATP catabolic process
GO:0006879	cellular iron ion homeostasis
GO:0006897	endocytosis
GO:0007035	vacuolar acidification
GO:0008286	insulin receptor signaling pathway
GO:0015991	ATP hydrolysis coupled proton transport
GO:0016032	viral process
GO:0033572	transferrin transport
GO:0050690	regulation of defense response to virus by virus
GO:0050790	regulation of catalytic activity
GO:0051701	interaction with host
GO:0055085	transmembrane transport
GO:0090382	phagosome maturation

Cellular Component

GO:0000221	vacuolar proton-transporting V-type ATPase, V1 domain
GO:0005765	lysosomal membrane
GO:0005829	cytosol
GO:0005886	plasma membrane
GO:0070062	extracellular vesicular exosome