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... See more...

Aliases for ATP6V1B1 Gene

Aliases for ATP6V1B1 Gene

  • ATPase H+ Transporting V1 Subunit B1 2 3 5
  • VATB 2 3 4
  • ATPase, H+ Transporting, Lysosomal 56/58kDa, V1 Subunit B1 2 3
  • V-Type Proton ATPase Subunit B, Kidney Isoform 3 4
  • 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
  • ATP6B1 3 4
  • RTA1B 2 3
  • VPP3 3 4
  • H(+)-Transporting Two-Sector ATPase, 58kD Subunit 3
  • Renal Tubular Acidosis With Deafness 2
  • Vacuolar Proton Pump, Subunit 3 3
  • H+-ATPase Beta 1 Subunit 3
  • V-ATPase B1 Subunit 3
  • ATP6V1B1 5
  • DRTA2 3
  • VMA2 3
  • Vma2 2

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 V1 Subunit B1) is a Protein Coding gene. Diseases associated with ATP6V1B1 include Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss and Nephrocalcinosis. Among its related pathways are Insulin receptor recycling and Rheumatoid arthritis. An important paralog of this gene is ATP6V1B2.

UniProtKB/Swiss-Prot Summary 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 and endosomes.

Gene Wiki entry for ATP6V1B1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP6V1B1 Gene

Genomics for ATP6V1B1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATP6V1B1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J070935 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 263.3 +1.0 983 3 ZNF217 FOXA2 KDM6A CTBP1 RARA TEAD3 BCL6 ZNF205 MAZ TFAP4 ATP6V1B1 CLEC4F ENSG00000233870 VAX2 HSALNG0015848 ANKRD53
GH02J070961 Promoter 0.3 EPDnew 250.3 +25.8 25776 0.1 HSALNG0015850 ATP6V1B1 VAX2 ADD2 HSALNG0015849 ANKRD53 ATP6V1B1-AS1 ENSG00000258881
GH02J070850 Enhancer 0.9 FANTOM5 Ensembl ENCODE 15.6 -83.1 -83099 4.8 BCLAF1 IRF4 EBF1 BATF ATF2 IKZF1 SPI1 IKZF2 NBN RUNX3 CD207 ATP6V1B1 VAX2 ATP6V1B1-AS1 ADD2 CLEC4F FIGLA piR-55194-195 lnc-CD207-1
GH02J070921 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 7.7 -13.5 -13499 2.4 ZNF600 ATF2 ZIC2 CTCF JUND PRDM10 ATF1 RAD21 ETV1 ZFP37 HSALNG0015844 ATP6V1B1-AS1 VAX2 ADD2 ATP6V1B1
GH02J070775 Enhancer 0.5 Ensembl 10.2 -160.5 -160499 0.4 IKZF1 DPF2 ARID1B SMARCE1 ATF3 SMARCA4 ATP6V1B1 ADD2 lnc-ADD2-1 FIGLA
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP6V1B1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP6V1B1

Top Transcription factor binding sites by QIAGEN in the ATP6V1B1 gene promoter:
  • AML1a
  • deltaCREB
  • FOXC1
  • GCNF
  • GCNF-1
  • GCNF-2
  • HEN1
  • HNF-4alpha1
  • Lmo2
  • SEF-1 (1)

Genomic Locations for ATP6V1B1 Gene

Latest Assembly
chr2:70,935,900-70,965,431
(GRCh38/hg38)
Size:
29,532 bases
Orientation:
Plus strand

Previous Assembly
chr2:71,163,030-71,192,561
(GRCh37/hg19 by Entrez Gene)
Size:
29,532 bases
Orientation:
Plus strand

chr2:71,163,012-71,192,536
(GRCh37/hg19 by Ensembl)
Size:
29,525 bases
Orientation:
Plus strand

Genomic View for ATP6V1B1 Gene

Genes around ATP6V1B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP6V1B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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 & Families for ATP6V1B1 Gene

Gene Families for ATP6V1B1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for ATP6V1B1 Gene

InterPro:
Blocks:
  • H+-transporting two-sector ATPase, alpha/beta subunit, central region

Suggested Antigen Peptide Sequences for ATP6V1B1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57632, highly similar to Vacuolar ATP synthase subunit B, kidney isoform (EC 3.6.3.14) (B4DWH7_HUMAN)
  • H+-ATPase beta 1 subunit (Q71UA2_HUMAN)
  • Vacuolar proton pump subunit B 1 (VATB1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P15313

UniProtKB/Swiss-Prot:

VATB1_HUMAN :
  • The PDZ-binding motif mediates interactions with SLC9A3R1 and SCL4A7.
  • Belongs to the ATPase alpha/beta chains family.
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.

Phenotypes From GWAS Catalog for ATP6V1B1 Gene

Gene Ontology (GO) - Molecular Function for ATP6V1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32814053
GO:0005524 ATP binding IEA --
GO:0015078 proton transmembrane transporter activity ISS 14585495
GO:0016787 hydrolase activity IEA --
GO:0044877 protein-containing 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

Human Phenotype Ontology for ATP6V1B1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ATP6V1B1 Gene

MGI Knock Outs for ATP6V1B1:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V1B1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP6V1B1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
extracellular 4
cytoskeleton 2
mitochondrion 2
endosome 2
lysosome 2
peroxisome 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ATP6V1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,ISS 14585495
GO:0005829 cytosol IEA,TAS --
GO:0005902 microvillus IEA,ISS 14585495
GO:0008021 synaptic vesicle IEA --
GO:0012505 endomembrane system IEA --
genes like me logo Genes that share ontologies with ATP6V1B1: view

Pathways & Interactions 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:0003091 renal water homeostasis IEA --
GO:0003096 renal sodium ion transport IEA --
GO:0006693 prostaglandin metabolic process IEA --
GO:0006811 ion transport IEA --
genes like me logo Genes that share ontologies with ATP6V1B1: view

No data available for SIGNOR curated interactions for ATP6V1B1 Gene

Drugs & Compounds for ATP6V1B1 Gene

(7) Drugs for ATP6V1B1 Gene - From: DrugBank, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
tiludronate Approved, Investigational, Vet_approved Pharma Target, inhibitor 2
Water Approved Pharma 0
Phosphate Experimental Pharma 0
Bafilomycin A1 Experimental Pharma V-ATPase inhibitor,selective and reversible, H+-ATPase (vacuolar) inhibitor 0
Concanamycin A Experimental Pharma V-type (vacuolar) H+-ATPase inhibitor, H+-ATPase (vacuolar) inhibitor 0

(1) Additional Compounds for ATP6V1B1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0

(2) 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
genes like me logo Genes that share compounds with ATP6V1B1: view

Transcripts for ATP6V1B1 Gene

mRNA/cDNA for ATP6V1B1 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V1B1

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

No ASD Table

Relevant External Links for ATP6V1B1 Gene

GeneLoc Exon Structure for
ATP6V1B1

Expression for ATP6V1B1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 (x17.6), Skin - Sun Exposed (Lower leg) (x7.8), Minor Salivary Gland (x7.4), and Skin - Not Sun Exposed (Suprapubic) (x5.5).

Protein differential expression in normal tissues from HIPED for ATP6V1B1 Gene

This gene is overexpressed in Liver (25.9) and Brain (16.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ATP6V1B1 Gene



Protein tissue co-expression partners for ATP6V1B1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP6V1B1

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.

Evidence on tissue expression from TISSUES for ATP6V1B1 Gene

  • Kidney(4.7)
  • Lung(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP6V1B1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • head
  • inner ear
Thorax:
  • esophagus
Abdomen:
  • kidney
  • stomach
Pelvis:
  • ureter
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with ATP6V1B1: view

Primer products for research

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 29 30
  • 99.22 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ATP6V1B1 29 30
  • 91.13 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ATP6V1B1 30
  • 91 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia ATP6V1B1 29 30
  • 90.25 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Atp6v1b1 29 16 30
  • 87.52 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atp6v1b1 29
  • 87.39 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia ATP6V1B1 30
  • 80 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ATP6V1B1 30
  • 84 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atp6v1b1 29
  • 77.8 (n)
Zebrafish
(Danio rerio)
Actinopterygii atp6v1ba 29
  • 75.47 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Vha55 30 31
  • 85 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea Y110A7A.12 31
  • 77 (a)
spe-5 30
  • 73 (a)
ManyToMany
vha-12 29 30 31
  • 72.33 (n)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA2 30
  • 72 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT4G38510 29
  • 69.34 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0711000 29
  • 69.11 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 77 (a)
OneToMany
Species where no ortholog for ATP6V1B1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ATP6V1B1: view image
Alliance of Genome Resources:
Additional Orthologs for ATP6V1B1

Paralogs for ATP6V1B1 Gene

Paralogs for ATP6V1B1 Gene

(2) SIMAP similar genes for ATP6V1B1 Gene using alignment to 7 proteins:

  • VATB1_HUMAN
  • C9J5E3_HUMAN
  • C9JL73_HUMAN
  • C9JNS9_HUMAN
  • C9JTN0_HUMAN
  • C9JZ02_HUMAN
  • V5NR16_HUMAN
genes like me logo Genes that share paralogs with ATP6V1B1: view

Variants for ATP6V1B1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP6V1B1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
1003846 Uncertain Significance: not provided 70,960,975(+) C/A
NM_001692.4(ATP6V1B1):c.640C>A (p.Leu214Met)
MISSENSE
1019477 Uncertain Significance: not provided 70,964,766(+) C/A
NM_001692.4(ATP6V1B1):c.1279C>A (p.Gln427Lys)
MISSENSE
1029521 Pathogenic: Renal tubular acidosis with progressive nerve deafness 70,965,029(+) G/T
NM_001692.4(ATP6V1B1):c.1450G>T (p.Glu484Ter)
NONSENSE
845388 Pathogenic: not provided 70,960,942(+) C/T
NM_001692.4(ATP6V1B1):c.607C>T (p.Gln203Ter)
NONSENSE
848844 Pathogenic: not provided 70,964,840(+) GT/G
NM_001692.4(ATP6V1B1):c.1356del (p.Phe452fs)
FRAMESHIFT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ATP6V1B1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv1120035 CNV deletion 17803354
esv2720179 CNV deletion 23290073
esv2720180 CNV deletion 23290073
esv2720181 CNV deletion 23290073
esv2720182 CNV deletion 23290073
esv3591214 CNV loss 21293372
nsv1004459 CNV loss 25217958
nsv1013232 CNV gain 25217958
nsv1014516 CNV gain 25217958
nsv1146915 OTHER inversion 26484159
nsv953146 CNV deletion 24416366

Variation tolerance for ATP6V1B1 Gene

Residual Variation Intolerance Score: 23.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.21; 95.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP6V1B1 Gene

Human Gene Mutation Database (HGMD)
ATP6V1B1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP6V1B1
Leiden Open Variation Database (LOVD)
ATP6V1B1

SNP Genotyping and Copy Number Assays for research

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

Disorders for ATP6V1B1 Gene

MalaCards: The human disease database

(32) MalaCards diseases for ATP6V1B1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

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 variants affecting the gene represented in this entry.

Additional Disease Information for ATP6V1B1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ATP6V1B1: view

No data available for Genatlas for ATP6V1B1 Gene

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 FE … Lifton RP (Nature genetics 1999) 2 3 4 22 72
  2. Interactions between metallopeptidase 3 polymorphism rs679620 and BMI in predicting blood pressure in African-American women with hypertension. (PMID: 19008710) Taylor J … Kardia SL (Journal of hypertension 2008) 3 22 40
  3. Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis. (PMID: 12579397) Ruf R … Hildebrandt F (Pediatric nephrology (Berlin, Germany) 2003) 3 4 22
  4. Human endomembrane H+ pump strongly resembles the ATP-synthetase of Archaebacteria. (PMID: 2527371) Südhof TC … Xie XS (Proceedings of the National Academy of Sciences of the United States of America 1989) 2 3 4
  5. The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis. (PMID: 28233610) Palazzo V … Giglio S (Kidney international 2017) 3 72

Products for ATP6V1B1 Gene

Sources for ATP6V1B1 Gene