ENSG00000047249


Homo sapiens

Features
Gene ID: ENSG00000047249
  
Biological name :ATP6V1H
  
Synonyms : ATP6V1H / ATPase H+ transporting V1 subunit H / Q9UI12
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: -1
Band: q11.23
Gene start: 53715557
Gene end: 53843558
  
Corresponding Affymetrix probe sets: 1557585_at (Human Genome U133 Plus 2.0 Array)   1557586_s_at (Human Genome U133 Plus 2.0 Array)   221504_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000352522
Ensembl peptide - ENSP00000429947
Ensembl peptide - ENSP00000429786
Ensembl peptide - ENSP00000428969
Ensembl peptide - ENSP00000428625
Ensembl peptide - ENSP00000428255
Ensembl peptide - ENSP00000427835
Ensembl peptide - ENSP00000379995
Ensembl peptide - ENSP00000347359
NCBI entrez gene - 51606     See in Manteia.
OMIM - 608861
RefSeq - XM_011517542
RefSeq - NM_015941
RefSeq - NM_213619
RefSeq - NM_213620
RefSeq - XM_006716455
RefSeq Peptide - NP_057025
RefSeq Peptide - NP_998784
RefSeq Peptide - NP_998785
swissprot - Q9UI12
swissprot - E5RK31
swissprot - E5RHH0
swissprot - E5RG49
swissprot - A0A024R7X3
swissprot - E5RJG1
swissprot - A0A024R7U9
swissprot - G3V126
swissprot - H0YB41
Ensembl - ENSG00000047249
  
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
 atp6v1hENSDARG00000006370Danio rerio
 ATP6V1HENSGALG00000013621Gallus gallus
 Q8BVE3ENSMUSG00000033793Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR004908  ATPase, V1 complex, subunit H
 IPR011987  ATPase, V1 complex, subunit H, C-terminal
 IPR011989  Armadillo-like helical
 IPR016024  Armadillo-type fold


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006897 endocytosis IDA
 biological_processGO:0007035 vacuolar acidification IBA
 biological_processGO:0008286 insulin receptor signaling pathway TAS
 biological_processGO:0015991 ATP hydrolysis coupled proton transport IEA
 biological_processGO:0016032 viral process IEA
 biological_processGO:0016241 regulation of macroautophagy NAS
 biological_processGO:0033572 transferrin transport TAS
 biological_processGO:0034220 ion transmembrane transport TAS
 biological_processGO:0050690 regulation of defense response to virus by virus TAS
 biological_processGO:0050790 regulation of catalytic activity IEA
 biological_processGO:0090383 phagosome acidification TAS
 cellular_componentGO:0000221 vacuolar proton-transporting V-type ATPase, V1 domain IEA
 cellular_componentGO:0005765 lysosomal membrane HDA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016887 ATPase activity NAS
 molecular_functionGO:0030234 enzyme regulator activity NAS
 molecular_functionGO:0046961 proton-transporting ATPase activity, rotational mechanism IEA


Pathways (from Reactome)
Pathway description
ROS, RNS production in phagocytes
Nef Mediated CD4 Down-regulation
Nef Mediated CD8 Down-regulation
Insulin receptor recycling
Transferrin endocytosis and recycling
Ion channel transport


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000010610 CD4 / P01730 / CD4 molecule  / complex / reaction
 ENSG00000042753 AP2S1 / P53680 / adaptor related protein complex 2 sigma 1 subunit  / complex / reaction
 ENSG00000161203 AP2M1 / Q96CW1 / adaptor related protein complex 2 mu 1 subunit  / complex / reaction
 ENSG00000183020 AP2A2 / O94973 / adaptor related protein complex 2 alpha 2 subunit  / complex / reaction
 ENSG00000172116 CD8B / P10966 / CD8b molecule  / complex / reaction
 ENSG00000196961 AP2A1 / O95782 / adaptor related protein complex 2 alpha 1 subunit  / complex / reaction
 ENSG00000006125 AP2B1 / P63010 / adaptor related protein complex 2 beta 1 subunit  / complex / reaction






 

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