AutismKB 2.0

Annotation Details for ATP6V1B1


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Basic Information Top
Gene Symbol:ATP6V1B1 ( ATP6B1,MGC32642,RTA1B,VATB,VMA2,VPP3 )
Gene Full Name: ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
Band: 2p13.3
Quick LinksEntrez ID:525; OMIM: 192132; Uniprot ID:VATB1_HUMAN; ENSEMBL ID: ENSG00000116039; HGNC ID: 853
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737ISS-cytoplasm14585495
GO:0005829TAS-cytosol-
GO:0005902ISS-microvillus14585495
GO:0016323ISS-basolateral plasma membrane14585495
GO:0016324IDA-apical plasma membrane16928804
GO:0016328ISS-lateral plasma membrane14585495
GO:0016471IMP-vacuolar proton-transporting V-type ATPase complex12414817
GO:0033180IEA-proton-transporting V-type ATPase, V1 domain-
GO:0070062IDA-extracellular exosome19056867
GO:0098850IEA-extrinsic component of synaptic vesicle membrane-
GO ID Evidence Qualifier GO_term References
GO:0005524IEA-ATP binding-
GO:0015078ISS-hydrogen ion transmembrane transporter activity14585495
GO:0016820IEA-hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances-
GO:0032403IEA-protein complex binding-
GO ID Evidence Qualifier GO_term References
GO:0001503IMP-ossification16433694
GO:0006885IMP-regulation of pH9916796
GO:0007588IMP-excretion12414817
GO:0007605IMP-sensory perception of sound9916796
GO:0008286TAS-insulin receptor signaling pathway-
GO:0015991IEA-ATP hydrolysis coupled proton transport-
GO:0015992IMP-proton transport12414817
GO:0016241NAS-regulation of macroautophagy22982048
GO:0033572TAS-transferrin transport-
GO:0034220TAS-ion transmembrane transport-
GO:0042472IMP-inner ear morphogenesis19639346
GO:0045851IMP-pH reduction19478356
GO:0046034IEA-ATP metabolic process-
GO:0055074IMP-calcium ion homeostasis19478356
GO:0090383TAS-phagosome acidification-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
STX1AATP6V1B111267612651853 Reconstituted Complex
STX1AATP6V1B110700812651853 Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:103285
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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