ATP6V0A4 - ATPase H+ transporting V0 subunit a4 Gene

Homo sapiens

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

Gene ID: 50617 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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
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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

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

Bioactive Molecules (1)

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

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