ATP6V1H - ATPase H+ transporting V1 subunit H Gene

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	9620685	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in endocytosis	IDA IDA: Inferred from direct assay	12032142	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in membrane	IDA IDA: Inferred from direct assay	33065002	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATP6V1H Protein Structure

V-ATPase_H_N

V-ATPase_H_C

0
100
200
300
400
483 a.a.

Protein Preferred Names

Protein Names

V-type proton ATPase subunit H

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

ATP6V1H Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	ATP6V1H	Q9UI12	FLACC1	Homo sapiens	Q96Q35-2	Y2H Array	32296183
Intra	ATP6V1H	Q9UI12	FLACC1	Homo sapiens	Q96Q35-2	Y2H Prey Pooling	32296183
Intra	ATP6V1H	Q9UI12	SNPH	Homo sapiens	O15079	Y2H Prey Pooling	32296183
Intra	ATP6V1H	Q9UI12	SNPH	Homo sapiens	O15079	Y2H Array	32296183
Intra	ATP6V1H	Q9UI12	PPP1R12C	Homo sapiens	Q9BZL4	Y2H Prey Pooling	32296183
Intra	ATP6V1H	Q9UI12	PPP1R12C	Homo sapiens	Q9BZL4	Y2H Array	32296183
Intra	ATP6V1H	Q9UI12	SPATA2	Homo sapiens	Q9UM82	Validated Y2H	32296183
Intra	ATP6V1H	Q9UI12	SPATA2	Homo sapiens	Q9UM82	Y2H Array	32296183
Intra	ATP6V1H	Q9UI12	SPATA2	Homo sapiens	Q9UM82	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

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	Pre-designed Sets	/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.