ENSG00000166189


Homo sapiens

Features
Gene ID: ENSG00000166189
  
Biological name :HPS6
  
Synonyms : HPS6 / HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 / Q86YV9
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: 1
Band: q24.32
Gene start: 102065390
Gene end: 102068038
  
Corresponding Affymetrix probe sets: 219052_at (Human Genome U133 Plus 2.0 Array)   230371_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000299238
NCBI entrez gene - 79803     See in Manteia.
OMIM - 607522
RefSeq - NM_024747
RefSeq Peptide - NP_079023
swissprot - Q86YV9
Ensembl - ENSG00000166189
  
Related genetic diseases (OMIM): 614075 - Hermansky-Pudlak syndrome 6, 614075
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
 HPS6ENSGALG00000020741Gallus gallus
 Hps6ENSMUSG00000074811Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR017218  BLOC-2 complex, Hps6 subunit


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006996 organelle organization IEA
 biological_processGO:0007596 blood coagulation IEA
 biological_processGO:0030318 melanocyte differentiation IEA
 biological_processGO:0032418 lysosome localization IEA
 biological_processGO:0043473 pigmentation IEA
 biological_processGO:0072657 protein localization to membrane IMP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005765 lysosomal membrane IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0031084 BLOC-2 complex IPI
 cellular_componentGO:0031090 organelle membrane IEA
 cellular_componentGO:0031901 early endosome membrane IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0017137 Rab GTPase binding IPI
 molecular_functionGO:0030742 GTP-dependent protein binding IPI


Pathways (from Reactome)
Pathway description
No match


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:0000421 Epistaxis 
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 HP:0001022 Albinism 
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 HP:0001107 Ocular albinism 
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 HP:0004866 platelets show impaired aggregation in response to adp 
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 HP:0011883 Abnormal platelet granules "An anomaly of alpha or dense granules or platelet lysososmes." [DDD:wouwehand]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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