ATP6V1A - ATPase H+ transporting V1 subunit A Gene

Homo sapiens

Also known as HO68; VA68; VPP2; Vma1; DEE93; ARCL2D; ATP6A1; IECEE3; ATP6V1A1

Gene ID: 523 | Gene type: protein coding

About ATP6V1A

Cytogenetic location: 3q13.31 Genomic coordinates (GRCh38): 3:113,747,035-113,812,056 (from NCBI)

This gene has 14 transcripts (splice variants), 286 orthologues, 4 paralogues and is associated with 6 phenotypes. Ubiquitous expression in brain (RPKM 61.4), kidney (RPKM 46.5) and 24 other tissues.

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 encoded protein is one of two V1 domain A subunit isoforms and is found in all tissues. Transcript variants derived from alternative polyadenylation exist. [provided by RefSeq, Jul 2008]

ATP6V1A Products(1)

mRNA	Protein	Name
NM_001690.4	NP_001681.2	V-type proton ATPase catalytic subunit A

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	23035048	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cellular response to increased oxygen levels	IMP IMP: Inferred from mutant phenotype	28296633	GOA
involved in intracellular iron ion homeostasis	IMP IMP: Inferred from mutant phenotype	28296633	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in membrane	IDA IDA: Inferred from direct assay	33065002	GOA
located in secretory granule	IDA IDA: Inferred from direct assay	23035048	GOA
part of vacuolar proton-transporting V-type ATPase, V1 domain	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

ATP6V1A Protein Structure

ATP-synt_ab_N

ATP-synt_ab

ATP-synt_ab_C

0
100
200
300
400
500
617 a.a.

Protein Preferred Names

Protein Names

V-type proton ATPase catalytic subunit A

ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A

Related Diseases

Diseases

Alias

Developmental And Epileptic Encephalopathy 93

Epileptic Encephalopathy, Infantile Or Early Childhood, 3	DEE93
IECEE3	Infantile Or Early Childhood Epileptic Encephalopathy 3

Cutis Laxa, Autosomal Recessive, Type Iid

ARCL2D	Autosomal Recessive Cutis Laxa Type Iid
Autosomal Recessive Cutis Laxa Type 2d	Cutis Laxa, Autosomal Recessive, 2d

Autosomal Recessive Cutis Laxa Type Ii Classic Type

Arcl2, Classic Type	Arcl2, Debre Type
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Autosomal Recessive Cutis Laxa Type 2, Debre Type

Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy	Non-Specific Eoee
Undetermined Eoee

Rabies

Lyssa	Hydrophobia
St Hubert Disease

Encephalopathy

Brain Diseases	Encephalopathies
Toxic Encephalopathy	Toxic Brain Fever
Toxic Brain Inflammation	Toxic Brain Stem Inflammation
Toxic Cerebral Fever	Toxic Cerebrospinal Fever
Toxic Cerebrospinal Inflammation	Encephalopathy Nec
Encephalopathy Nos	Encephalopathy Disease
Encephalopathy Syndrome

Histoplasmosis

Darling Disease	Reticuloendotheliosis, X-Linked
Infection By Histoplasma Capsulatum	Histoplasma Infection
Reticuloendothelial Cytomycosis	Cytomycosis
Darling Histoplasmosis	African Histoplasmosis
Histoplasmosis Duboisii

Cutis Laxa

Generalized Elastolysis	Loose Skin
Dermatolysis	Dermatomegaly
Cutis Laxa Syndrome

Baylisascariasis

Infection By Baylisascaris

Chromosome 3q13.31 Deletion Syndrome

3q13 Microdeletion Syndrome	Monosomy 3q13
Chromosome 3, Monosomy 3q13	Del(3)(Q13)

Tinea Nigra

Microsporosis Nigra	Infection By Cladosporium Werneckii
Keratomycosis Nigricans	Tinea Palmaris Nigra
Keratomycosis Nigricans Palmaris

Immunodeficiency 47

Congenital Disorder Of Glycosylation Type Ii	CDG2E
Congenital Disorder Of Glycosylation Type Iie	IMD47
Cdg2s	Cdg Iis
Cdgiis	Immunodeficiency And Hepatopathy With Or Without Neurologic Features
Congenital Disorder Of Glycosylation, Type Ii	CDG1I
Congenital Disorder Of Glycosylation, Type Iie	Cdg Iie
Congenital Disorder Of Glycosylation Type 2e	Congenital Disorder Of Glycosylation, Type Iis
Cdg Ii	Cdgii
Cdgiie	Carbohydrate Deficient Glycoprotein Syndrome Type Iie
Cdg Syndrome Type Iie	Congenital Disorder Of Glycosylation Ii
Congenital Disorder Of Glycosylation 1i	Cdg-Iie
Alg2-Cdg	Cdg-Ii
Glycosylation, Congenital Disorder Of, Type Ii	Cdgiide
Congenital Disorder Of Glycosylation Type Iis	Cog7-Cdg
Cdg Syndrome Type Ii	Carbohydrate Deficient Glycoprotein Syndrome Type Ii
Congenital Disorder Of Glycosylation Type 1i	Mannosyltransferase 2 Deficiency
Congenital Disorder Of Glycosylation 2e	Congenital Disorder Of Glycosylation 2s
Congenital Disorders Of Glycosylation Type Ii	Glycosylation, Congenital Disorder Of, Type Iie
Immunodeficiency, Type 47	Congenital Disorder Of Glycosylation Type 2a

Cutis Laxa, Autosomal Recessive, Type Iia

ARCL2A	Cutis Laxa With Joint Laxity And Retarded Development
Cutis Laxa With Growth And Developmental Delay	Cutis Laxa, Debre Type
Cutis Laxa With Bone Dystrophy	Arcl2
Cutis Laxa With Congenital Disorder Of Glycosylation	Autosomal Recessive Cutis Laxa Type Iia
Cutis Laxa, Autosomal Recessive Type 2a	Cutis Laxa, Autosomal Recessive, 2a
Cl Type Iia	Cutis Laxa Autosomal Recessive Type Iia

Neuroblastoma

Nb	Neuroblastoma, Susceptibility To
Neuroblastomas	Central Neuroblastoma

Geroderma Osteodysplasticum

Gerodermia Osteodysplastica	Geroderma Osteodysplastica
GO	Walt Disney Dwarfism
Type Of Gerodermia Osteodysplastica

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-128892	EN6	Activator	99.42%	Unkown
HY-RS01223	ATP6V1A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ATP6V1A	VGNC	VGNC:68660
Canis familiaris	ATP6V1A	VGNC	VGNC:38276
Mus musculus	ATP6V1A	MGD	MGI:1201780
Bos taurus	ATP6V1A	VGNC	VGNC:26316
Rattus norvegicus	ATP6V1A	RGD	RGD:1596464

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