ENSG00000105929


Homo sapiens

Features
Gene ID: ENSG00000105929
  
Biological name :ATP6V0A4
  
Synonyms : ATP6V0A4 / ATPase H+ transporting V0 subunit a4 / Q9HBG4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: -1
Band: q34
Gene start: 138706294
Gene end: 138799560
  
Corresponding Affymetrix probe sets: 220197_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000496205
Ensembl peptide - ENSP00000496421
Ensembl peptide - ENSP00000496259
Ensembl peptide - ENSP00000253856
Ensembl peptide - ENSP00000308122
Ensembl peptide - ENSP00000376774
Ensembl peptide - ENSP00000495261
Ensembl peptide - ENSP00000495642
NCBI entrez gene - 50617     See in Manteia.
OMIM - 605239
RefSeq - NM_020632
RefSeq - XM_005250393
RefSeq - NM_130840
RefSeq - NM_130841
RefSeq - XM_005250394
RefSeq Peptide - NP_065683
RefSeq Peptide - NP_570855
RefSeq Peptide - NP_570856
swissprot - Q9HBG4
swissprot - A0A024R791
Ensembl - ENSG00000105929
  
Related genetic diseases (OMIM): 602722 - Renal tubular acidosis, distal, autosomal recessive, 602722
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 si:ch73-173p19.2ENSDARG00000103971Danio rerio
 ATP6V0A4ENSGALG00000040666Gallus gallus
 Q920R6ENSMUSG00000038600Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q93050 / ATP6V0A1 / ATPase H+ transporting V0 subunit a1ENSG0000003362761
Q9Y487 / ATP6V0A2 / ATPase H+ transporting V0 subunit a2ENSG0000018534452
Q13488 / TCIRG1 / T cell immune regulator 1, ATPase H+ transporting V0 subunit a3ENSG0000011071947


Protein motifs (from Interpro)
Interpro ID Name
 IPR002490  V-type ATPase, V0 complex, 116kDa subunit family
 IPR026028  ATPase, V0 complex, subunit 116kDa, eukaryotic


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001503 ossification IMP
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006885 regulation of pH IMP
 biological_processGO:0007035 vacuolar acidification IBA
 biological_processGO:0007588 excretion IMP
 biological_processGO:0007605 sensory perception of sound IMP
 biological_processGO:0008286 insulin receptor signaling pathway TAS
 biological_processGO:0015986 ATP synthesis coupled proton transport IBA
 biological_processGO:0015991 ATP hydrolysis coupled proton transport IEA
 biological_processGO:0033572 transferrin transport TAS
 biological_processGO:0034220 ion transmembrane transport TAS
 biological_processGO:0070072 vacuolar proton-transporting V-type ATPase complex assembly IBA
 biological_processGO:0090383 phagosome acidification TAS
 biological_processGO:1902600 proton transmembrane transport IMP
 cellular_componentGO:0000220 vacuolar proton-transporting V-type ATPase, V0 domain IEA
 cellular_componentGO:0005765 lysosomal membrane HDA
 cellular_componentGO:0005768 endosome ISS
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005903 brush border IEA
 cellular_componentGO:0010008 endosome membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0016471 vacuolar proton-transporting V-type ATPase complex IDA
 cellular_componentGO:0030670 phagocytic vesicle membrane TAS
 cellular_componentGO:0031526 brush border membrane IDA
 cellular_componentGO:0033179 proton-transporting V-type ATPase, V0 domain IEA
 cellular_componentGO:0045177 apical part of cell IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0015078 proton transmembrane transporter activity IEA
 molecular_functionGO:0046961 proton-transporting ATPase activity, rotational mechanism IBA
 molecular_functionGO:0051117 ATPase binding IPI


Pathways (from Reactome)
Pathway description
ROS, RNS production in phagocytes
Insulin receptor recycling
Transferrin endocytosis and recycling
Ion channel transport


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000121 Nephrocalcinosis 
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 HP:0001508 Failure to thrive 
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 HP:0001510 Growth retardation 
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 HP:0001944 Dehydration 
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 HP:0002013 Vomiting 
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 HP:0008341 Renal tubular acidosis, type i 
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 HP:0008619 Hearing loss, sensorineural, bilateral 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000110719 Q13488 / TCIRG1 / T cell immune regulator 1, ATPase H+ transporting V0 subunit a3  / complex
 ENSG00000185344 Q9Y487 / ATP6V0A2 / ATPase H+ transporting V0 subunit a2  / complex
 ENSG00000033627 Q93050 / ATP6V0A1 / ATPase H+ transporting V0 subunit a1  / complex






 

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