ENSG00000100099


Homo sapiens

Features
Gene ID: ENSG00000100099
  
Biological name :HPS4
  
Synonyms : HPS4 / HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 / Q9NQG7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 22
Strand: -1
Band: q12.1
Gene start: 26443423
Gene end: 26483837
  
Corresponding Affymetrix probe sets: 1552652_at (Human Genome U133 Plus 2.0 Array)   218402_s_at (Human Genome U133 Plus 2.0 Array)   54037_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000415081
Ensembl peptide - ENSP00000406764
Ensembl peptide - ENSP00000430291
Ensembl peptide - ENSP00000338457
Ensembl peptide - ENSP00000381213
Ensembl peptide - ENSP00000384185
Ensembl peptide - ENSP00000399705
NCBI entrez gene - 89781     See in Manteia.
OMIM - 606682
RefSeq - XM_017029064
RefSeq - XM_017029054
RefSeq - XM_017029055
RefSeq - XM_017029056
RefSeq - XM_017029057
RefSeq - XM_017029058
RefSeq - XM_017029059
RefSeq - XM_017029060
RefSeq - XM_017029061
RefSeq - XM_017029062
RefSeq - XM_017029063
RefSeq - NM_022081
RefSeq - NM_152841
RefSeq - XM_006724353
RefSeq - XM_006724354
RefSeq - XM_006724360
RefSeq - XM_011530485
RefSeq - XM_011530486
RefSeq - XM_011530487
RefSeq - XM_011530488
RefSeq - XM_011530489
RefSeq - XM_011530490
RefSeq - XM_011530491
RefSeq - XM_011530492
RefSeq - XM_011530493
RefSeq - XM_011530494
RefSeq - XM_017029042
RefSeq - XM_017029043
RefSeq - XM_017029044
RefSeq - XM_017029045
RefSeq - XM_017029046
RefSeq - XM_017029047
RefSeq - XM_017029048
RefSeq - XM_017029049
RefSeq - XM_017029050
RefSeq - XM_017029051
RefSeq - XM_017029052
RefSeq Peptide - NP_690054
RefSeq Peptide - NP_001336825
RefSeq Peptide - NP_001336827
RefSeq Peptide - NP_001336828
RefSeq Peptide - NP_071364
swissprot - F1LLU8
swissprot - F8VYA9
swissprot - F8WC53
swissprot - Q9NQG7
swissprot - E5RG08
Ensembl - ENSG00000100099
  
Related genetic diseases (OMIM): 614073 - Hermansky-Pudlak syndrome 4, 614073
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
 hps4ENSDARG00000013795Danio rerio
 HPS4ENSGALG00000005595Gallus gallus
 Hps4ENSMUSG00000042328Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR026091  Hermansky-Pudlak syndrome 4 protein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006605 protein targeting IDA
 biological_processGO:0006996 organelle organization IEA
 biological_processGO:0007040 lysosome organization IDA
 biological_processGO:0007596 blood coagulation IEA
 biological_processGO:0007599 hemostasis TAS
 biological_processGO:0030318 melanocyte differentiation IEA
 biological_processGO:0048075 positive regulation of eye pigmentation TAS
 biological_processGO:0050821 protein stabilization IPI
 biological_processGO:0065009 regulation of molecular function IEA
 biological_processGO:1903232 melanosome assembly IDA
 biological_processGO:1903955 positive regulation of protein targeting to mitochondrion IMP
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005764 lysosome IDA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0031085 BLOC-3 complex IPI
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0042470 melanosome IDA
 cellular_componentGO:0042827 platelet dense granule IDA
 molecular_functionGO:0005085 guanyl-nucleotide exchange factor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0017137 Rab GTPase binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IPI
 molecular_functionGO:0046983 protein dimerization activity IPI


Pathways (from Reactome)
Pathway description
RAB GEFs exchange GTP for GDP on RABs


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:0001022 Albinism 
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 HP:0001107 Ocular albinism 
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 HP:0002206 Pulmonary fibrosis 
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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
 ENSG00000123892 RAB38 / P57729 / RAB38, member RAS oncogene family  / reaction
 ENSG00000188419 CHM / P24386 / CHM, Rab escort protein 1  / reaction
 ENSG00000118508 RAB32 / Q13637 / RAB32, member RAS oncogene family  / reaction
 ENSG00000203668 CHML / P26374 / CHM like, Rab escort protein 2  / reaction
 ENSG00000057608 GDI2 / P50395 / GDP dissociation inhibitor 2  / reaction
 ENSG00000203879 GDI1 / P31150 / GDP dissociation inhibitor 1  / reaction
 ENSG00000107521 HPS1 / Q92902 / HPS1, biogenesis of lysosomal organelles complex 3 subunit 1  / complex






 

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