ATP6V0A4 - ATPase H+ transporting V0 subunit a4 Gene

Also Known as A4; STV1; VPH1; VPP2; DRTA3; RTA1C; RTADR; ATP6N2; RDRTA2; ATP6N1B

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 50617

About ATP6V0A4

Cytogenetic location: 7q34 Genomic coordinates (GRCh38): 7:138,706,294-138,798,196 (from NCBI)

This gene has 10 transcripts (splice variants), 168 orthologues, 3 paralogues and is associated with 2 phenotypes. Biased expression in kidney (RPKM 28.8), salivary gland (RPKM 15.2) and 1 other tissue.

Summary

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent 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. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [provided by RefSeq, Jul 2008]

ATP6V0A4 Products (3)

mRNA	Protein	Name
NM_020632.3	NP_065683.2	V-type proton ATPase 116 kDa subunit a 4
NM_130840.3	NP_570855.2	V-type proton ATPase 116 kDa subunit a 4
NM_130841.3	NP_570856.2	V-type proton ATPase 116 kDa subunit a 4

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ATPase binding	IPI IPI: Inferred from physical interaction	17360703	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12649290	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in ossification	IMP IMP: Inferred from mutant phenotype	10973252	GOA
involved in proton transmembrane transport	IMP IMP: Inferred from mutant phenotype	10973252	GOA
involved in regulation of pH	IMP IMP: Inferred from mutant phenotype	10973252	GOA
involved in renal tubular secretion	IMP IMP: Inferred from mutant phenotype	12414817	GOA
involved in sensory perception of sound	IMP IMP: Inferred from mutant phenotype	12414817	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in apical part of cell	IDA IDA: Inferred from direct assay	14638902	GOA
located in apical plasma membrane	IDA IDA: Inferred from direct assay	10973252	GOA
located in brush border membrane	IDA IDA: Inferred from direct assay	14638902	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	17360703	GOA
part of vacuolar proton-transporting V-type ATPase complex	IDA IDA: Inferred from direct assay	10973252	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

ATP6V0A4 Protein Structure

V_ATPase_I

0
200
400
600
800
840 a.a.

Protein Preferred Names	Protein Names
V-type proton ATPase 116 kDa subunit a 4	ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B

ATP6V0A4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ATP6V0A4	Q9HBG4	APOE	Homo sapiens	P02649	Validated Y2H	32814053
Intra	ATP6V0A4	Q9HBG4	APOE	Homo sapiens	P02649	Y2H Array	32814053
Intra	ATP6V0A4	Q9HBG4	APOE	Homo sapiens	P02649	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

ATP6V0A4 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P84806	ATP6V0A4 Antibody (YA4503)	IHC-P, FC, ELISA	Human
HY-P84806A	ATP6V0A4 Antibody (YA4503)(PBS only)	IHC-P, FC, ELISA	Human

Related Diseases

Diseases	Alias
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Autosomal Recessive Distal Renal Tubular Acidosis Autosomal Recessive Distal Rta Renal Tubular Acidosis, Distal, Autosomal Recessive DRTA3 Rtadr Ar Drta Distal Renal Tubular Acidosis 3, With Or Without Sensorineural Hearing Loss Renal Tubular Acidosis, Distal, Autosomal Recessive, With Late-Onset Sensorineural Hearing Loss, Included Rta, Distal, Autosomal Recessive Renal Tubular Acidosis, Autosomal Recessive With Preserved Hearing Distal Renal Tubular Acidosis With Late-Onset Sensorineural Hearing Loss Distal Renal Tubular Acidosis With Preserved Hearing Acidosis, Tubular, Renal, Distal, Autosomal Recessive
Distal Renal Tubular Acidosis	Classic Rta Familial Distal Primary Acidosis Renal Tubular Acidosis Type 1 Drta Renal Tubular Acidosis, Distal
Renal Tubular Acidosis	Acidosis Renal Tubular Acidosis, Renal Tubular Lightwood-Albright Syndrome Lightwood Syndrome Idiopathic Infantile Hypercalcemia - Mild Form Kidney Tubular Acidosis Renal Tubule Acidosis Kidney Acidosis Renal Acidosis Renal Hyperchloremic Acidosis Rta - [Renal Tubular Acidosis]
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Medullary Sponge Kidney	Cacchi-Ricci Disease Msk Precalicial Canalicular Ectasia Cacchi Ricci Disease Cacchi-Ricci Syndrome Cystic Dilatation Of Renal Collecting Tubes Precalyceal Canalicular Ectasia Sponge Kidney Congenital Cystic Kidney Disease Msk - [Medullary Sponge Kidney] Sponge Kidney Nos
Nephrocalcinosis	Hypercalcemic Nephropathy
Osteopetrosis, Autosomal Recessive 6	OPTB6 Autosomal Recessive Osteopetrosis 6 Autosomal Recessive Osteopetrosis Intermediate Form Osteopetrosis, Autosomal Recessive, Intermediate Form Osteopetrosis Autosomal Recessive 6 Autosomal Recessive Osteopetrosis Type 6 Osteopetrosis Autosomal Recessive Intermediate Form Intermediate Osteopetrosis Autosomal Recessive Intermediate Osteopetrosis Osteopetrosis, Autosomal Recessive, Type 6
Metabolic Acidosis
Waardenburg Syndrome, Type 4b	Waardenburg Syndrome Type 4b WS4B Waardenburg Syndrome Type Ivb Waardenburg Syndrome With Hirschsprung Disease Type 4b Waardenburg Syndrome, Type 4b, With Hirschsprung Disease Waardenburg Syndrome, Type Ivb Waardenburg Syndrome 4b Hirschsprung Disease With Pigmentary Anomaly Shah-Waardenburg Syndrome Waardenburg-Shah Syndrome Waardenburg Syndrome, Type 4a
Osteopetrosis, Autosomal Recessive 1	OPTB1 Autosomal Recessive Osteopetrosis 1 Autosomal Recessive Albers-Schonberg Disease Infantile Malignant Osteopetrosis Osteopetrosis, Infantile Malignant 1 Marble Bones, Autosomal Recessive Albers-Schonberg Disease, Autosomal Recessive Infantile Malignant Osteopetrosis 1 Osteopetrosis Autosomal Recessive 1 Autosomal Recessive Osteopetrosis Type 1 Marble Bones Autosomal Recessive Osteopetrosis Infantile Malignant 1 Osteopetrosis, Autosomal Recessive, Type 1
Osteopetrosis, Autosomal Recessive 7	OPTB7 Autosomal Recessive Osteopetrosis 7 Autosomal Recessive Osteoclast-Poor Osteopetrosis With Hypogammaglobulinemia Autosomal Recessive Osteopetrosis Type 7 Osteoclast-Poor Osteopetrosis With Hypogammaglobulinemia Osteopetrosis-Hypogammaglobulinemia Syndrome Osteopetrosis, Osteoclast-Poor, With Hypogammaglobulinemia Osteopetrosis Autosomal Recessive 7 Osteopetrosis Osteoclast-Poor With Hypogammaglobulinemia Osteopetrosis, Autosomal Recessive, Type 7
Osteopetrosis, Autosomal Recessive 4	Autosomal Recessive Osteopetrosis 4 OPTB4 Infantile Malignant Osteopetrosis 2 Osteopetrosis, Infantile Malignant 2 Osteopetrosis, Autosomal Recessive, Type 4
Osteopetrosis, Autosomal Recessive 5	OPTB5 Autosomal Recessive Osteopetrosis 5 Infantile Malignant Osteopetrosis 3 Osteopetrosis, Infantile Malignant 3 Osteopetrosis Autosomal Recessive 5 Osteopetrosis And Infantile Neuroaxonal Dystrophy Autosomal Recessive Osteopetrosis Type 5 Osteopetrosis Infantile Malignant 3 Osteopetrosis, Autosomal Recessive, Type 5
Nephrolithiasis	Kidney Stones Stone - Kidney/Ureter Kidney Calculi
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Kallmann Syndrome 2 Kal2 HH2 Hypogonadism, Hypogonadotropic, Type 2 With/Without Anosmia
Renal Tubular Transport Disease	Renal Tubular Transport, Inborn Errors Inborn Renal Tubular Transport Disorder
Osteopetrosis, Autosomal Recessive 3	Osteopetrosis With Renal Tubular Acidosis Marble Brain Disease OPTB3 Guibaud-Vainsel Syndrome Carbonic Anhydrase Ii Deficiency Osteopetrosis, Autosomal Recessive 3, With Renal Tubular Acidosis Autosomal Recessive Osteopetrosis 3 Carbonic Anhydrase 2 Deficiency Autosomal Recessive Osteopetrosis 3 With Renal Tubular Acidosis Osteopetrosis Autosomal Recessive 3 Autosomal Recessive Osteopetrosis Type 3 Guibaud Vainsel Syndrome Mixed Rta Mixed Renal Tubular Acidosis Renal Tubular Acidosis Type 3 Carbonic Anhydrase Ii Deficiency Syndrome Carbonic Anhydrase Ii Variant Osteopetrosis, Autosomal Recessive, Type 3 Carbonic Anhydrase 2
Hereditary Elliptocytosis	Congenital Elliptocytosis Ovalocytosis Elliptocytosis, Hereditary He Elliptocytosis Hereditary Congenital Ovalocytosis Elliptocytosis Hereditary Elliptocytosis With Infantile Poikilocytosis Hereditary Ovalocytosis Oval Erythrocytosis He - [Hereditary Elliptocytosis] Elliptocytosis Anaemia

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01218	ATP6V0A4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ATP6V0A4	RGD	RGD:1305055
Mus musculus	ATP6V0A4	MGD	MGI:2153480
Macaca mulatta	ATP6V0A4	VGNC	VGNC:70189
Bos taurus	ATP6V0A4	VGNC	VGNC:26309
Felis catus	ATP6V0A4	VGNC	VGNC:68718
Canis familiaris	ATP6V0A4	VGNC	VGNC:38270
Others	ATP6V0A4	NCBI