ENSG00000110756


Homo sapiens

Features
Gene ID: ENSG00000110756
  
Biological name :HPS5
  
Synonyms : HPS5 / HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 / Q9UPZ3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: p15.1
Gene start: 18278668
Gene end: 18322198
  
Corresponding Affymetrix probe sets: 204544_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000441781
Ensembl peptide - ENSP00000431758
Ensembl peptide - ENSP00000437437
Ensembl peptide - ENSP00000265967
Ensembl peptide - ENSP00000379552
Ensembl peptide - ENSP00000399590
NCBI entrez gene - 11234     See in Manteia.
OMIM - 607521
RefSeq - XM_017017154
RefSeq - XM_011519867
RefSeq - XM_011519868
RefSeq - XM_017017149
RefSeq - XM_017017150
RefSeq - XM_017017151
RefSeq - XM_017017152
RefSeq - XM_017017153
RefSeq - NM_007216
RefSeq - NM_181507
RefSeq - NM_181508
RefSeq - XM_011519862
RefSeq - XM_011519863
RefSeq - XM_011519864
RefSeq - XM_011519865
RefSeq - XM_011519866
RefSeq Peptide - NP_852609
RefSeq Peptide - NP_009147
RefSeq Peptide - NP_852608
swissprot - F5GWM5
swissprot - Q9UPZ3
swissprot - G3V159
swissprot - F5H6Q8
Ensembl - ENSG00000110756
  
Related genetic diseases (OMIM): 614074 - Hermansky-Pudlak syndrome 5, 614074
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
 hps5ENSDARG00000071062Danio rerio
 ENSGALG00000032502Gallus gallus
 ENSGALG00000006266Gallus gallus
 Hps5ENSMUSG00000014418Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
O15040 / TECPR2 / tectonin beta-propeller repeat containing 2ENSG0000019666319


Protein motifs (from Interpro)
Interpro ID Name
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR035431  Hermansky-Pudlak syndrome 5 protein
 IPR036322  WD40-repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006996 organelle organization IEA
 biological_processGO:0007596 blood coagulation IEA
 biological_processGO:0043473 pigmentation IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0031084 BLOC-2 complex IPI
 molecular_functionGO:0005515 protein binding IEA


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:0000978 Ecchymoses 
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 HP:0001022 Albinism 
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 HP:0001107 Ocular albinism 
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 HP:0001873 Thrombocytopenia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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