ATP6V1B1 - ATPase H+ transporting V1 subunit B1 Gene

Also Known as VATB; VMA2; VPP3; DRTA2; RTA1B; ATP6B1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 525

About ATP6V1B1

Cytogenetic location: 2p13.3 Genomic coordinates (GRCh38): 2:70,935,900-70,965,431 (from NCBI)

This gene has 7 transcripts (splice variants), 113 orthologues, 4 paralogues and is associated with 3 phenotypes. Biased expression in kidney (RPKM 35.1), salivary gland (RPKM 28.3) and 1 other tissue.

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 B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness. [provided by RefSeq, Jul 2008]

ATP6V1B1 Products (1)

mRNA	Protein	Name
NM_001692.4	NP_001683.2	V-type proton ATPase subunit B, kidney isoform

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in calcium ion homeostasis	IMP IMP: Inferred from mutant phenotype	20622307	GOA
involved in inner ear morphogenesis	IMP IMP: Inferred from mutant phenotype	19639346	GOA
involved in ossification	IMP IMP: Inferred from mutant phenotype	16433694	GOA
involved in pH reduction	IMP IMP: Inferred from mutant phenotype	16769747	GOA
involved in proton transmembrane transport	IMP IMP: Inferred from mutant phenotype	12414817	GOA
acts upstream of or within regulation of pH	IMP IMP: Inferred from mutant phenotype	9916796	GOA
involved in regulation of pH	IMP IMP: Inferred from mutant phenotype	12414817	GOA
involved in renal tubular secretion	IMP IMP: Inferred from mutant phenotype	12414817	GOA
acts upstream of or within sensory perception of sound	IMP IMP: Inferred from mutant phenotype	9916796	GOA
involved in sensory perception of sound	IMP IMP: Inferred from mutant phenotype	20622307	GOA
involved in vacuolar proton-transporting V-type ATPase complex assembly	IMP IMP: Inferred from mutant phenotype	16769747	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in apical plasma membrane	IDA IDA: Inferred from direct assay	16769747	GOA
part of vacuolar proton-transporting V-type ATPase complex	IMP IMP: Inferred from mutant phenotype	12414817	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

ATP6V1B1 Protein Structure

ATP-synt_ab_N

ATP-synt_ab

ATP-synt_ab_C

0
100
200
300
400
513 a.a.

Protein Preferred Names	Protein Names
V-type proton ATPase subunit B, kidney isoform	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1

ATP6V1B1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	ATP6V1B1	P15313	KIF1B	Homo sapiens	O60333-2	Y2H Array	32814053
Intra	ATP6V1B1	P15313	KIF1B	Homo sapiens	O60333-2	Y2H Pooling	32814053
Intra	ATP6V1B1	P15313	KIF1B	Homo sapiens	O60333-2	Validated Y2H	32814053
Intra	ATP6V1B1	P15313	BAG6	Homo sapiens	P46379-2	Validated Y2H	32814053
Intra	ATP6V1B1	P15313	BAG6	Homo sapiens	P46379-2	Y2H Pooling	32814053
Intra	ATP6V1B1	P15313	BAG6	Homo sapiens	P46379-2	Y2H Array	32814053
Intra	ATP6V1B1	P15313	HSPB1	Homo sapiens	P04792	Validated Y2H	32814053
Intra	ATP6V1B1	P15313	HSPB1	Homo sapiens	P04792	Y2H Array	32814053
Intra	ATP6V1B1	P15313	HSPB1	Homo sapiens	P04792	Y2H Pooling	32814053
Intra	ATP6V1B1	P15313	TARDBP	Homo sapiens	Q13148	Y2H Pooling	32814053
Intra	ATP6V1B1	P15313	TARDBP	Homo sapiens	Q13148	Validated Y2H	32814053
Intra	ATP6V1B1	P15313	TARDBP	Homo sapiens	Q13148	Y2H Array	32814053
Intra	ATP6V1B1	P15313	RNF11	Homo sapiens	Q9Y3C5	Validated Y2H	32814053
Intra	ATP6V1B1	P15313	RNF11	Homo sapiens	Q9Y3C5	Y2H Array	32814053
Intra	ATP6V1B1	P15313	RNF11	Homo sapiens	Q9Y3C5	Y2H Pooling	32814053
Intra	ATP6V1B1	P15313	TTR	Homo sapiens	P02766	Y2H Array	32814053
Intra	ATP6V1B1	P15313	TTR	Homo sapiens	P02766	Validated Y2H	32814053
Intra	ATP6V1B1	P15313	TTR	Homo sapiens	P02766	Y2H Pooling	32814053
Intra	ATP6V1B1	P15313	WFS1	Homo sapiens	O76024	Validated Y2H	32814053
Intra	ATP6V1B1	P15313	WFS1	Homo sapiens	O76024	Y2H Array	32814053
Intra	ATP6V1B1	P15313	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053
Intra	ATP6V1B1	P15313	ATXN1	Homo sapiens	P54253	Validated Y2H	32814053
Intra	ATP6V1B1	P15313	ATXN1	Homo sapiens	P54253	Y2H Array	32814053
Intra	ATP6V1B1	P15313	ATXN1	Homo sapiens	P54253	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss	Renal Tubular Acidosis With Progressive Nerve Deafness Rta With Progressive Nerve Deafness Renal Tubular Acidosis, Autosomal Recessive, With Progressive Nerve Deafness Renal Tubular Acidosis With Deafness DRTA2 Ar Drta With Hearing Loss Autosomal Recessive Distal Renal Tubular Acidosis With Deafness Renal Tubular Acidosis Type 1b Renal Tubular Acidosis, Distal, With Progressive Nerve Deafness Distal Renal Tubular Acidosis 2 With Progressive Sensorineural Hearing Loss Ar Drta Wth Deafness Autosomal Recessive Distal Renal Tubular Acidosis With Hearing Loss Renal Tubular Acidosis Progressive Nerve Deafness Ar Drta With Deafness Autosomal Recessive Renal Tubular Acidosis With Progressive Nerve Deafness Distal Renal Tubular Acidosis With Deafness Acidosis, Tubular, Renal, With Progressive Nerve Deafness
Nephrocalcinosis	Hypercalcemic Nephropathy
Distal Renal Tubular Acidosis	Classic Rta Familial Distal Primary Acidosis Renal Tubular Acidosis Type 1 Drta Renal Tubular Acidosis, Distal
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
Polydactyly, Postaxial, Type A1	Postaxial Polydactyly Type A Polydactyly, Postaxial Postaxial Polydactyly PAPA1 Postaxial Polydactyly, Type A Papa Polydactyly, Postaxial, Types A1 And B Postaxial Polydactyly Type B Polydactyly Postaxial Polydactyly, Postaxial A1 Polydactyly, Postaxial B PAPB Postaxial Polydactyly, Type A1/B Polydactyly, Postaxial, Type A Pyogenic Arthritis, Pyoderma Gangrenosum And Acne Postaxial Polydactyly, Type B
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]
Rare Genetic Deafness	Rare Genetic Hearing Loss
Metabolic Acidosis
Nephrolithiasis	Kidney Stones Stone - Kidney/Ureter Kidney Calculi
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
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
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
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
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
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
Renal Tubular Transport Disease	Renal Tubular Transport, Inborn Errors Inborn Renal Tubular Transport Disorder
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
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Enlarged Vestibular Aqueduct DFNB4 Neurosensory Nonsyndromic Recessive Deafness 4 Enlarged Vestibular Aqueduct Syndrome Nsrd4 Autosomal Recessive Nonsyndromic Deafness 4 Dilated Vestibular Aqueduct Dva Enlarged Vestibular Aqueduct, Digenic Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct Large Vestibular Aqueduct Syndrome Deafness, Autosomal Recessive, 4 Deafness Neurosensory Autosomal Recessive 4 Eva Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4 Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Kallmann Syndrome 2 Kal2 HH2 Hypogonadism, Hypogonadotropic, Type 2 With/Without Anosmia
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Diabetes Insipidus, Nephrogenic, Autosomal NDI2 Diabetes Insipidus, Nephrogenic, Type Ii Diabetes Insipidus, Nephrogenic, 2 Nephrogenic Diabetes Insipidus Type 2 Autosomal Nephrogenic Diabetes Insipidus-2 Diabetes Insipidus, Nephrogenic Type 2 ANDI Diabetes Insipidus Nephrogenic Type 2 Doid:0081061 Nephrogenic Diabetes Insipidus Congenital Nephrogenic Diabetes Insipidus Adh-Resistant Diabetes Insipidus
Pseudohypoaldosteronism, Type I, Autosomal Recessive	Autosomal Recessive Pseudohypoaldosteronism Type 1 PHA1B Pseudohypoaldosteronism Type 1 Pseudohypoaldosteronism, Type I Generalized Pha1 Generalized Pseudohypoaldosteronism Type 1 Pseudohypoaldosteronism Type 1 Autosomal Recessive Pha1 Pseudohypoaldosteronism Pha I, Autosomal Recessive Autosomal Recessive Pha 1 Pseudohypoaldosteronism Type 1, Recessive Pseudohypoaldosteronism Type I Autosomal Recessive Pha1 Pha Type 1 Pseudohypoaldosteronism 1, Autosomal Recessive Multisystem Pseudohypoaldosteronism Pha Type I, Autosomal Recessive Pseudohypoaldosteronism Type I, Autosomal Recessive
Deafness, Autosomal Recessive 91	DFNB91 Autosomal Recessive Nonsyndromic Deafness 91 Autosomal Recessive Deafness 91 Deafness, Autosomal Recessive, 91 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 91 Deafness, Autosomal Recessive, Type 91
Dent Disease 1	Dent Disease Dent'S Disease Dent Disease 2 Dent Disease Type 1 DENT1 Urolithiasis, Hypercalciuric, X-Linked Nephrolithiasis 2 Nphl2 Dent Syndrome Dents Disease Low-Molecular-Weight Proteinuria With Hypercalciuria And Nephrocalcinosis Renal Fanconi Syndrome With Nephrocalcinosis And Renal Stones X-Linked Recessive Hypercalciuric Hypophosphatemic Rickets X-Linked Recessive Nephrolithiasis Fanconi Syndrome, Renal, With Nephrocalcinosis And Renal Stones Nephrolithiasis, Hypercalciuric, X-Linked Nephrolithiasis-Hypercalciuria X-Linked Recessive Nephrolithiasis, X-Linked Recessive Dent Disease, Type 1
Vestibular Disease	Vestibular Diseases Vertigo, Vestibular Disorder Vestibular Disorder Diseases Of Inner Ear
Inner Ear Disease	Labyrinthine Dysfunction Diseases Of Inner Ear Labyrinthine Disease Abnormality Of The Inner Ear Labyrinth Diseases Labyrinthine Disorder Nonfunctioning Labyrinth Labyrinthine Loss Of Function Labyrinthine Syndrome Labyrinthine Disorder Nos
Auditory System Disease	Ear Diseases Ear And Mastoid Disease
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
Hypokalemia	Potassium Deficiency Potassium Deficiency Disorder Hypopotassemia Potassium Potassium [K] Deficiency Hypokalaemic Syndrome Hypopotassaemia Hypopotassaemia Syndrome Hypokalaemic Potassium Depletion
Fanconi Syndrome	Infantile Nephropathic Cystinosis Adult Fanconi Syndrome Congenital Fanconi Syndrome De Toni-Fanconi Syndrome Fanconi-De Toni Syndrome Lignac-Fanconi Syndrome Fanconi Renotubular Syndrome Primary Fanconi Renotubular Syndrome De Toni-Debre-Fanconi Syndrome Adult Fanconi Anemia Detoni Fanconi Syndrome Fanconi-De-Toni Syndrome Primary Fanconi Syndrome Detoni-Debre-Fanconi Syndrome Primary Fanconi Renal Syndrome Fanconi Anemia Cystinosis, Infantile Nephropathic Fanconi-Bickel Syndrome Renal Fanconi Syndrome Lowe-Bickel Syndrome
Bartter Disease	Bartter Syndrome Bartter'S Syndrome Aldosteronism With Hyperplasia Of The Adrenal Cortex Hypokalemic Alkalosis With Hypercalciuria Potassium Wasting Juxtaglomerular Hyperplasia With Secondary Aldosteronism Renal Tubular Normotensive Hypokalemic Alkalosis With Hypercalciuria Salt-Losing Tubular Disorder, Henle'S Loop Type Salt-Wasting Tubulopathy, Henle'S Loop Type Bartters Syndrome

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)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS01224	ATP6V1B1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ATP6V1B1	VGNC	VGNC:70184
Rattus norvegicus	ATP6V1B1	RGD	RGD:1310619
Bos taurus	ATP6V1B1	VGNC	VGNC:26317
Mus musculus	ATP6V1B1	MGD	MGI:103285
Canis familiaris	ATP6V1B1	VGNC	VGNC:54276
Felis catus	ATP6V1B1	VGNC	VGNC:68668
Others	ATP6V1B1	NCBI