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ATP6V1B1 (ATPase H+ transporting V1 subunit B1)

Identity

Alias_namesVPP3
ATP6B1
vacuolar proton pump 3
ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
Alias_symbol (synonym)VATB
RTA1B
Vma2
Other aliasVMA2
HGNC (Hugo) ATP6V1B1
LocusID (NCBI) 525
Atlas_Id 60640
Location 2p13.3  [Link to chromosome band 2p13]
Location_base_pair Starts at 70935868 and ends at 70965431 bp from pter ( according to hg38-Dec_2013)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)ATP6V1B1   853
Cards
Entrez_Gene (NCBI)ATP6V1B1  525  ATPase H+ transporting V1 subunit B1
AliasesATP6B1; RTA1B; VATB; VMA2; 
VPP3
GeneCards (Weizmann)ATP6V1B1
Ensembl hg19 (Hinxton)ENSG00000116039 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000116039 [Gene_View]  chr2:70935868-70965431 [Contig_View]  ATP6V1B1 [Vega]
ICGC DataPortalENSG00000116039
TCGA cBioPortalATP6V1B1
AceView (NCBI)ATP6V1B1
Genatlas (Paris)ATP6V1B1
WikiGenes525
SOURCE (Princeton)ATP6V1B1
Genetics Home Reference (NIH)ATP6V1B1
Genomic and cartography
GoldenPath hg38 (UCSC)ATP6V1B1  -     chr2:70935868-70965431 +  2p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP6V1B1  -     2p13.3   [Description]    (hg19-Feb_2009)
EnsemblATP6V1B1 - 2p13.3 [CytoView hg19]  ATP6V1B1 - 2p13.3 [CytoView hg38]
Mapping of homologs : NCBIATP6V1B1 [Mapview hg19]  ATP6V1B1 [Mapview hg38]
OMIM192132   267300   
Gene and transcription
Genbank (Entrez)AK127853 AK223151 AK291121 AK301542 AK313194
RefSeq transcript (Entrez)NM_001692
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATP6V1B1
Cluster EST : UnigeneHs.64173 [ NCBI ]
CGAP (NCI)Hs.64173
Alternative Splicing GalleryENSG00000116039
Gene ExpressionATP6V1B1 [ NCBI-GEO ]   ATP6V1B1 [ EBI - ARRAY_EXPRESS ]   ATP6V1B1 [ SEEK ]   ATP6V1B1 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP6V1B1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)525
GTEX Portal (Tissue expression)ATP6V1B1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP15313   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP15313  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP15313
Splice isoforms : SwissVarP15313
PhosPhoSitePlusP15313
Domaine pattern : Prosite (Expaxy)ATPASE_ALPHA_BETA (PS00152)   
Domains : Interpro (EBI)ATPase_a/bsu_AS    ATPase_F1/V1/A1_a/bsu_N    ATPase_F1/V1/A1_a/bsu_nucl-bd    ATPase_V1-cplx_bsu    P-loop_NTPase    V-ATPase_su_B/beta   
Domain families : Pfam (Sanger)ATP-synt_ab (PF00006)    ATP-synt_ab_N (PF02874)   
Domain families : Pfam (NCBI)pfam00006    pfam02874   
Conserved Domain (NCBI)ATP6V1B1
DMDM Disease mutations525
Blocks (Seattle)ATP6V1B1
SuperfamilyP15313
Human Protein AtlasENSG00000116039
Peptide AtlasP15313
HPRD01887
IPIIPI00304911   IPI00924887   IPI00925827   IPI00926751   IPI00926979   IPI00925534   
Protein Interaction databases
DIP (DOE-UCLA)P15313
IntAct (EBI)P15313
FunCoupENSG00000116039
BioGRIDATP6V1B1
STRING (EMBL)ATP6V1B1
ZODIACATP6V1B1
Ontologies - Pathways
QuickGOP15313
Ontology : AmiGOossification  ATP binding  cytoplasm  cytosol  microvillus  regulation of pH  excretion  sensory perception of sound  synaptic vesicle  insulin receptor signaling pathway  hydrogen ion transmembrane transporter activity  ATP hydrolysis coupled proton transport  proton transport  regulation of macroautophagy  basolateral plasma membrane  apical plasma membrane  lateral plasma membrane  vacuolar proton-transporting V-type ATPase complex  hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances  protein complex binding  proton-transporting V-type ATPase, V1 domain  transferrin transport  ion transmembrane transport  inner ear morphogenesis  pH reduction  ATP metabolic process  calcium ion homeostasis  extracellular exosome  phagosome acidification  extrinsic component of synaptic vesicle membrane  
Ontology : EGO-EBIossification  ATP binding  cytoplasm  cytosol  microvillus  regulation of pH  excretion  sensory perception of sound  synaptic vesicle  insulin receptor signaling pathway  hydrogen ion transmembrane transporter activity  ATP hydrolysis coupled proton transport  proton transport  regulation of macroautophagy  basolateral plasma membrane  apical plasma membrane  lateral plasma membrane  vacuolar proton-transporting V-type ATPase complex  hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances  protein complex binding  proton-transporting V-type ATPase, V1 domain  transferrin transport  ion transmembrane transport  inner ear morphogenesis  pH reduction  ATP metabolic process  calcium ion homeostasis  extracellular exosome  phagosome acidification  extrinsic component of synaptic vesicle membrane  
Pathways : KEGGOxidative phosphorylation    Phagosome    Synaptic vesicle cycle    Collecting duct acid secretion    Vibrio cholerae infection    Epithelial cell signaling in Helicobacter pylori infection    Rheumatoid arthritis   
NDEx NetworkATP6V1B1
Atlas of Cancer Signalling NetworkATP6V1B1
Wikipedia pathwaysATP6V1B1
Orthology - Evolution
OrthoDB525
GeneTree (enSembl)ENSG00000116039
Phylogenetic Trees/Animal Genes : TreeFamATP6V1B1
HOVERGENP15313
HOGENOMP15313
Homologs : HomoloGeneATP6V1B1
Homology/Alignments : Family Browser (UCSC)ATP6V1B1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP6V1B1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP6V1B1
dbVarATP6V1B1
ClinVarATP6V1B1
1000_GenomesATP6V1B1 
Exome Variant ServerATP6V1B1
ExAC (Exome Aggregation Consortium)ATP6V1B1 (select the gene name)
Genetic variants : HAPMAP525
Genomic Variants (DGV)ATP6V1B1 [DGVbeta]
DECIPHERATP6V1B1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATP6V1B1 
Mutations
ICGC Data PortalATP6V1B1 
TCGA Data PortalATP6V1B1 
Broad Tumor PortalATP6V1B1
OASIS PortalATP6V1B1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP6V1B1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP6V1B1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ATP6V1B1
DgiDB (Drug Gene Interaction Database)ATP6V1B1
DoCM (Curated mutations)ATP6V1B1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP6V1B1 (select a term)
intoGenATP6V1B1
Cancer3DATP6V1B1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP]&obsp»[Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM192132    267300   
Orphanet22876   
MedgenATP6V1B1
Genetic Testing Registry ATP6V1B1
NextProtP15313 [Medical]
TSGene525
GENETestsATP6V1B1
Target ValidationATP6V1B1
Huge Navigator ATP6V1B1 [HugePedia]
snp3D : Map Gene to Disease525
BioCentury BCIQATP6V1B1
ClinGenATP6V1B1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD525
Chemical/Pharm GKB GenePA25154
Clinical trialATP6V1B1
Miscellaneous
canSAR (ICR)ATP6V1B1 (select the gene name)
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP6V1B1
EVEXATP6V1B1
GoPubMedATP6V1B1
iHOPATP6V1B1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:02:03 CEST 2017

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