ATP6V1G3 - ATPase H+ transporting V1 subunit G3 Gene

Homo sapiens

Also known as Vma10; ATP6G3

Gene ID: 127124 | Gene type: protein coding

About ATP6V1G3

Cytogenetic location: 1q31.3 Genomic coordinates (GRCh38): 1:198,523,222-198,540,945 (from NCBI)

This gene has 4 transcripts (splice variants), 1 gene allele, 129 orthologues and 2 paralogues. Restricted expression toward kidney (RPKM 14.8).

Summary

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit Enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle 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 encodes one of three G subunit proteins. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ATP6V1G3 Products(6)

mRNA	Protein	Name
NM_001320218.2	NP_001307147.1	V-type proton ATPase subunit G 3 isoform c
NM_001376861.1	NP_001363790.1	V-type proton ATPase subunit G 3 isoform a
NM_001376862.1	NP_001363791.1	V-type proton ATPase subunit G 3 isoform c
NM_001376863.1	NP_001363792.1	V-type proton ATPase subunit G 3 isoform b
NM_133262.3	NP_573569.1	V-type proton ATPase subunit G 3 isoform a
NM_133326.2	NP_579872.1	V-type proton ATPase subunit G 3 isoform b

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ATPase binding	IPI IPI: Inferred from physical interaction	17360703	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytosol	IDA IDA: Inferred from direct assay	17360703	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	17360703	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

ATP6V1G3 Protein Structure

V-ATPase_G

0
100
118 a.a.

Protein Preferred Names

Protein Names

V-type proton ATPase subunit G 3

ATPase, H+ transporting, lysosomal (vacuolar proton pump) subunit G3

Related Diseases

Diseases

Alias

Distal Renal Tubular Acidosis

Classic Rta	Familial Distal Primary Acidosis
Renal Tubular Acidosis Type 1	Drta
Renal Tubular Acidosis, Distal

Ceroid Lipofuscinosis, Neuronal, 5

Neuronal Ceroid Lipofuscinosis 5	CLN5
Cln5 Disease	Finnish Variant Late Infantile Neuronal Ceroid Lipofuscinosis
Vlincl	Ceroid Lipofuscinosis, Neuronal, 5, Variable Age At Onset
Neuronal Ceroid Lipofuscinosis 5 Variable Age Of Onset	Cln5 Disease, Adult
Cln5 Disease, Juvenile	Cln5 Disease, Late Infantile
Neuronal Ceroid Lipofuscinosis Finnish Variant	Finnish Vlincl
Jansky-Bielschowsky Disease	Late-Infantile Neuronal Ceroid Lipofuscinosis
Neuronal Ceroid Lipofuscinosis, Late-Infantile	Finnish
Neuronal Ceroid Lipofuscinosis 5 With Variable Age At Onset	Lipofuscinosis, Ceroid, Neuronal, Type 5
Late-Infantile Neuronal Ceroid Lipfuscinosis	Ceroid Lipofuscinosis, Neuronal, 6

Autosomal Dominant Severe Congenital Neutropenia

Severe Congenital Neutropenia Autosomal Dominant

Neutropenia, Congenital, Severe, Autosomal Dominant

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-RS01233	ATP6V1G3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ATP6V1G3	VGNC	VGNC:26325
Rattus norvegicus	ATP6V1G3	RGD	RGD:1304635
Felis catus	ATP6V1G3	VGNC	VGNC:107842
Macaca mulatta	ATP6V1G3	VGNC	VGNC:70092
Canis familiaris	ATP6V1G3	VGNC	VGNC:38283
Mus musculus	ATP6V1G3	MGD	MGI:2450548

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