2. Gene
  3. ATP6V0A4 - ATPase H+ transporting V0 subunit a4 Gene

ATP6V0A4 - ATPase H+ transporting V0 subunit a4 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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

ATP6V0A4 Protein Structure

V_ATPase_I

V_ATPase_I: V-type ATPase 116kDa subunit family (26 - 831)

  • 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

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 / 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