ATP6V1A - ATPase H+ transporting V1 subunit A Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 523

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	23035048	GOA

Biological Process GO Annotation	Evidence	References	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	References	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

ATP6V1A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Cross	ATP6V1A	P38606	M	Rabies virus	P0DOF2	Anti Bait CoIP	33208464
Cross	ATP6V1A	P38606	M	Rabies virus	P0DOF2	Anti Tag CoIP	33208464

Cross: Cross-species interaction Intra: Intraspecies interaction

ATP6V1A Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82466	ATP6V1A Antibody (YA2211)	WB, IHC-P, IP	Human, Mouse, Rat
HY-P82466A	ATP6V1A Antibody (YA2211)(PBS only)	WB, IHC-P, IP	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-128892	EN6	Activator	99.42%	Unkown
HY-RS29446	ATP6V1A Monkey Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS01223	ATP6V1A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18574	Atp6v1a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25058	Atp6v1a Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	ATP6V1A	NCBI