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Aliases for ATP6V1B1 Gene

Aliases for ATP6V1B1 Gene

  • ATPase, H+ Transporting, Lysosomal 56/58kDa, V1 Subunit B1 2 3
  • ATP6B1 3 4 6
  • VPP3 3 4 6
  • Endomembrane Proton Pump 58 KDa Subunit 3 4
  • Vacuolar Proton Pump Subunit B 1 3 4
  • Vacuolar Proton Pump 3 2 3
  • V-ATPase Subunit B 1 3 4
  • VATB 3 4
  • H(+)-Transporting Two-Sector ATPase, 58kD Subunit 3
  • V-Type Proton ATPase Subunit B, Kidney Isoform 3
  • Renal Tubular Acidosis With Deafness 2
  • Vacuolar Proton Pump, Subunit 3 3
  • H+-ATPase Beta 1 Subunit 3
  • V-ATPase B1 Subunit 3
  • RTA1B 3
  • Vma2 3

External Ids for ATP6V1B1 Gene

Previous HGNC Symbols for ATP6V1B1 Gene

  • VPP3
  • ATP6B1

Previous GeneCards Identifiers for ATP6V1B1 Gene

  • GC02P071172
  • GC02P071373
  • GC02P071120
  • GC02P071138
  • GC02P071139
  • GC02P071074
  • GC02P071016
  • GC02P071162
  • GC02P070899

Summaries for ATP6V1B1 Gene

Entrez Gene Summary for ATP6V1B1 Gene

  • 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]

GeneCards Summary for ATP6V1B1 Gene

ATP6V1B1 (ATPase, H+ Transporting, Lysosomal 56/58kDa, V1 Subunit B1) is a Protein Coding gene. Diseases associated with ATP6V1B1 include renal tubular acidosis with deafness and renal tubular acidosis. Among its related pathways are Signaling by GPCR and Insulin receptor signalling cascade. GO annotations related to this gene include protein complex binding and hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances. An important paralog of this gene is ATP6V1B2.

UniProtKB/Swiss-Prot for ATP6V1B1 Gene

  • Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells

Tocris Summary for ATP6V1B1 Gene

  • H+-ATPase (also known as vacuolar ATPase, V-ATPase) is a enzyme transporter that functions to acidify intracellular compartments in eukaryotic cells. It is ubiquitously expressed and is present in endomembrane organelles such as vacuoles, lysosomes, endosomes, the Golgi apparatus, chromaffin granules and coated vesicles, as well as in the plasma membrane. H+-ATPase is a multisubunit complex composed of two domains. The V1 domain is responsible for ATP hydrolysis and the V0 domain is responsible for protein translocation. There are two main mechanisms of regulating H+-ATPase activity; recycling of H+-ATPase-containing vesicles to and from the plasma membrane and glucose-sensitive assembly/disassembly of the holoenzyme complex. These transporters play an important role in processes such as receptor-mediated endocytosis, protein degradation and coupled transport. They have a function in bone reabsorption and mutations in the A3 gene cause recessive osteopetrosis. Furthermore, H+-ATPases have been implicated in tumor metastasis and regulation of sperm motility and maturation.

Gene Wiki entry for ATP6V1B1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP6V1B1 Gene

Genomics for ATP6V1B1 Gene

Regulatory Elements for ATP6V1B1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ATP6V1B1 Gene

Start:
70,935,868 bp from pter
End:
70,965,431 bp from pter
Size:
29,564 bases
Orientation:
Plus strand

Genomic View for ATP6V1B1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATP6V1B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP6V1B1 Gene

Proteins for ATP6V1B1 Gene

  • Protein details for ATP6V1B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15313-VATB1_HUMAN
    Recommended name:
    V-type proton ATPase subunit B, kidney isoform
    Protein Accession:
    P15313
    Secondary Accessions:
    • Q53FY0
    • Q6P4H6

    Protein attributes for ATP6V1B1 Gene

    Size:
    513 amino acids
    Molecular mass:
    56833 Da
    Quaternary structure:
    • V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (main components: subunits A, B, C, D, E, and F) attached to an integral membrane V0 proton pore complex (main component: the proteolipid protein). Forms a complex with SLC9A3R1 and SCL4A7
    SequenceCaution:
    • Sequence=AAA36498.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for ATP6V1B1 Gene

Proteomics data for ATP6V1B1 Gene at MOPED

Post-translational modifications for ATP6V1B1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATP6V1B1 Gene

No data available for DME Specific Peptides for ATP6V1B1 Gene

Domains for ATP6V1B1 Gene

Gene Families for ATP6V1B1 Gene

HGNC:
  • VATP :ATPases / V-type
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

P15313

UniProtKB/Swiss-Prot:

VATB1_HUMAN :
  • P15313
Domain:
  • The PDZ-binding motif mediates interactions with SLC9A3R1 and SCL4A7.
Family:
  • Belongs to the ATPase alpha/beta chains family.
genes like me logo Genes that share domains with ATP6V1B1: view

Function for ATP6V1B1 Gene

Molecular function for ATP6V1B1 Gene

UniProtKB/Swiss-Prot Function: Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells

Gene Ontology (GO) - Molecular Function for ATP6V1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0015078 hydrogen ion transmembrane transporter activity ISS 14585495
GO:0016820 hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances IEA --
GO:0032403 protein complex binding IEA --
genes like me logo Genes that share ontologies with ATP6V1B1: view
genes like me logo Genes that share phenotypes with ATP6V1B1: view

Animal Models for ATP6V1B1 Gene

MGI Knock Outs for ATP6V1B1:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP6V1B1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for ATP6V1B1 Gene

Localization for ATP6V1B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP6V1B1 Gene

Endomembrane system; Peripheral membrane protein. Note=Endomembrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP6V1B1 Gene COMPARTMENTS Subcellular localization image for ATP6V1B1 gene
Compartment Confidence
plasma membrane 5
cytosol 4
vacuole 3
cytoskeleton 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ATP6V1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS 14585495
GO:0005829 cytosol TAS --
GO:0005902 microvillus ISS 14585495
GO:0012505 endomembrane system IEA --
GO:0016020 membrane --
genes like me logo Genes that share ontologies with ATP6V1B1: view

Pathways for ATP6V1B1 Gene

genes like me logo Genes that share pathways with ATP6V1B1: view

Gene Ontology (GO) - Biological Process for ATP6V1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IMP 16433694
GO:0006879 cellular iron ion homeostasis TAS --
GO:0006885 regulation of pH IMP 12414817
GO:0007588 excretion IMP 12414817
GO:0007605 sensory perception of sound IMP 19478356
genes like me logo Genes that share ontologies with ATP6V1B1: view

Compounds for ATP6V1B1 Gene

(3) Tocris Compounds for ATP6V1B1 Gene

Compound Action Cas Number
Bafilomycin A1 H+-ATPase (vacuolar) inhibitor [88899-55-2]
Concanamycin A H+-ATPase (vacuolar) inhibitor [80890-47-7]
Disulfiram Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities [97-77-8]

(5) HMDB Compounds for ATP6V1B1 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Calcium
  • Ca
7440-70-2
Phosphate
  • NFB Orthophosphate
14265-44-2
Water
  • Dihydrogen oxide
7732-18-5
genes like me logo Genes that share compounds with ATP6V1B1: view

Transcripts for ATP6V1B1 Gene

Unigene Clusters for ATP6V1B1 Gene

ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP6V1B1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V1B1 Gene

No ASD Table

Relevant External Links for ATP6V1B1 Gene

GeneLoc Exon Structure for
ATP6V1B1
ECgene alternative splicing isoforms for
ATP6V1B1

Expression for ATP6V1B1 Gene

mRNA expression in normal human tissues for ATP6V1B1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP6V1B1 Gene

This gene is overexpressed in Kidney - Cortex (17.6), Skin - Sun Exposed (Lower leg) (7.8), Minor Salivary Gland (7.4), and Skin - Not Sun Exposed (Suprapubic) (5.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ATP6V1B1 Gene

SOURCE GeneReport for Unigene cluster for ATP6V1B1 Gene Hs.64173

mRNA Expression by UniProt/SwissProt for ATP6V1B1 Gene

P15313-VATB1_HUMAN
Tissue specificity: Expressed in the cochlea and endolymphatic sac.
genes like me logo Genes that share expressions with ATP6V1B1: view

In Situ Assay Products

Orthologs for ATP6V1B1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP6V1B1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP6V1B1 35
  • 99.22 (n)
  • 99.22 (a)
ATP6V1B1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATP6V1B1 35
  • 90.25 (n)
  • 94.93 (a)
ATP6V1B1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP6V1B1 35
  • 91.13 (n)
  • 96.57 (a)
ATP6V1B1 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp6v1b1 35
  • 87.52 (n)
  • 93.76 (a)
Atp6v1b1 16
Atp6v1b1 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATP6V1B1 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP6V1B1 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp6v1b1 35
  • 87.39 (n)
  • 94.15 (a)
lizard
(Anolis carolinensis)
Reptilia ATP6V1B1 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v1b1 35
  • 77.8 (n)
  • 90.22 (a)
zebrafish
(Danio rerio)
Actinopterygii atp6v1ba 35
  • 75.47 (n)
  • 86 (a)
fruit fly
(Drosophila melanogaster)
Insecta Vha55 36
  • 85 (a)
OneToMany
Vha55 37
  • 86 (a)
worm
(Caenorhabditis elegans)
Secernentea spe-5 36
  • 73 (a)
ManyToMany
vha-12 35
  • 72.33 (n)
  • 84.07 (a)
vha-12 36
  • 81 (a)
ManyToMany
vha-12 37
  • 83 (a)
Y110A7A.12 37
  • 77 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA2 36
  • 72 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G38510 35
  • 69.34 (n)
  • 79.61 (a)
rice
(Oryza sativa)
Liliopsida Os01g0711000 35
  • 69.11 (n)
  • 79.27 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 77 (a)
OneToMany
Species with no ortholog for ATP6V1B1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATP6V1B1 Gene

ENSEMBL:
Gene Tree for ATP6V1B1 (if available)
TreeFam:
Gene Tree for ATP6V1B1 (if available)

Paralogs for ATP6V1B1 Gene

Paralogs for ATP6V1B1 Gene

Selected SIMAP similar genes for ATP6V1B1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with ATP6V1B1: view

Variants for ATP6V1B1 Gene

Sequence variations from dbSNP and Humsavar for ATP6V1B1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs759218 -- 70,962,227(+) GCACT(C/T)CACGT intron-variant
rs759219 -- 70,936,095(+) CGTGA(C/T)GGGTG intron-variant
rs967063 -- 70,958,261(+) CAGAA(A/C/G)GTGCC intron-variant
rs1137424 -- 70,956,347(-) GGGGC(A/G)GCCCT intron-variant
rs1985584 -- 70,951,030(+) ctcca(C/G)ctccc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATP6V1B1 Gene

Variant ID Type Subtype PubMed ID
esv2720179 CNV Deletion 23290073
esv2720180 CNV Deletion 23290073
esv2720181 CNV Deletion 23290073
esv2720182 CNV Deletion 23290073
esv1120035 CNV Deletion 17803354
nsv874253 CNV Gain 21882294

Relevant External Links for ATP6V1B1 Gene

HapMap Linkage Disequilibrium report
ATP6V1B1
Human Gene Mutation Database (HGMD)
ATP6V1B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP6V1B1 Gene

Disorders for ATP6V1B1 Gene

(1) OMIM Diseases for ATP6V1B1 Gene (192132)

UniProtKB/Swiss-Prot

VATB1_HUMAN
  • Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300]: An autosomal recessive disease characterized by the association of renal distal tubular acidosis with sensorineural hearing loss. Distal renal tubular acidosis is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. {ECO:0000269 PubMed:12414817, ECO:0000269 PubMed:12579397, ECO:0000269 PubMed:9916796}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(7) Novoseek inferred disease relationships for ATP6V1B1 Gene

Disease -log(P) Hits PubMed IDs
renal tubular acidosis, distal, autosomal recessive 98.2 2
distal renal tubular acidosis 95.4 8
acidosis renal tubular 89.4 1
deafness sensorineural 85.6 3
hearing loss sensorineural 73.1 6

Relevant External Links for ATP6V1B1

Genetic Association Database (GAD)
ATP6V1B1
Human Genome Epidemiology (HuGE) Navigator
ATP6V1B1
genes like me logo Genes that share disorders with ATP6V1B1: view

Publications for ATP6V1B1 Gene

  1. Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. (PMID: 9916796) Karet F.E. … Lifton R.P. (Nat. Genet. 1999) 2 3 4 23
  2. Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis. (PMID: 12579397) Ruf R. … Hildebrandt F. (Pediatr. Nephrol. 2003) 3 4 23
  3. Human endomembrane H+ pump strongly resembles the ATP-synthetase of Archaebacteria. (PMID: 2527371) Suedhof T.C. … Xie X.-S. (Proc. Natl. Acad. Sci. U.S.A. 1989) 2 3 4
  4. Interactions between metallopeptidase 3 polymorphism rs679620 and BMI in predicting blood pressure in African-American women with hypertension. (PMID: 19008710) Taylor J. … Kardia S.L. (J. Hypertens. 2008) 3 23 48
  5. Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity. (PMID: 19639346) Andreucci E. … Pela I. (Pediatr. Nephrol. 2009) 3 23

Products for ATP6V1B1 Gene

Sources for ATP6V1B1 Gene

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