ENSG00000107521


Homo sapiens

Features
Gene ID: ENSG00000107521
  
Biological name :HPS1
  
Synonyms : HPS1 / HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 / Q92902
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: -1
Band: q24.2
Gene start: 98416198
Gene end: 98446947
  
Corresponding Affymetrix probe sets: 203308_x_at (Human Genome U133 Plus 2.0 Array)   203309_s_at (Human Genome U133 Plus 2.0 Array)   210112_at (Human Genome U133 Plus 2.0 Array)   217354_s_at (Human Genome U133 Plus 2.0 Array)   239382_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000392462
Ensembl peptide - ENSP00000355310
Ensembl peptide - ENSP00000477926
Ensembl peptide - ENSP00000326649
Ensembl peptide - ENSP00000343638
Ensembl peptide - ENSP00000352652
NCBI entrez gene - 3257     See in Manteia.
OMIM - 604982
RefSeq - NM_001322484
RefSeq - NM_000195
RefSeq - NM_001311345
RefSeq - NM_001322476
RefSeq - NM_001322477
RefSeq - NM_001322478
RefSeq - NM_001322479
RefSeq - NM_001322480
RefSeq - NM_001322481
RefSeq - NM_001322482
RefSeq - NM_001322483
RefSeq - NM_001322485
RefSeq - NM_001322487
RefSeq - NM_001322489
RefSeq - NM_001322490
RefSeq - NM_001322491
RefSeq - NM_001322492
RefSeq - NM_182639
RefSeq - XM_005269757
RefSeq - XM_017016170
RefSeq - XM_017016171
RefSeq - XM_017016172
RefSeq - XM_017016173
RefSeq Peptide - NP_001309408
RefSeq Peptide - NP_000186
RefSeq Peptide - NP_001298274
RefSeq Peptide - NP_001309405
RefSeq Peptide - NP_001309409
RefSeq Peptide - NP_001309410
RefSeq Peptide - NP_001309411
RefSeq Peptide - NP_001309412
RefSeq Peptide - NP_001309413
RefSeq Peptide - NP_001309414
RefSeq Peptide - NP_001309416
RefSeq Peptide - NP_001309406
RefSeq Peptide - NP_001309418
RefSeq Peptide - NP_001309419
RefSeq Peptide - NP_001309420
RefSeq Peptide - NP_001309421
RefSeq Peptide - NP_872577
RefSeq Peptide - NP_001309407
swissprot - A0A0S2Z3U9
swissprot - H0Y4K4
swissprot - Q5TAA8
swissprot - Q92902
Ensembl - ENSG00000107521
  
Related genetic diseases (OMIM): 203300 - Hermansky-Pudlak syndrome 1, 203300
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
 hps1ENSDARG00000026170Danio rerio
 HPS1ENSGALG00000017419Gallus gallus
 Hps1ENSMUSG00000025188Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR026053  Hermansky-Pudlak syndrome 1 protein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007040 lysosome organization TAS
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0065009 regulation of molecular function IEA
 biological_processGO:1903232 melanosome assembly IDA
 cellular_componentGO:0005737 cytoplasm TAS
 cellular_componentGO:0005764 lysosome TAS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0031085 BLOC-3 complex IPI
 cellular_componentGO:0031410 cytoplasmic vesicle IDA
 molecular_functionGO:0005085 guanyl-nucleotide exchange factor activity IEA
 molecular_functionGO:0005515 protein binding 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:0000083 Renal failure 
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 HP:0000225 Gingival bleeding 
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 HP:0000421 Epistaxis 
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 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
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 HP:0000978 Ecchymoses 
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 HP:0000995 Pigmented nevi "The presence of increased numbers of pigmented nevi, that is, of small, dark spots on the skin. Pigmented nevi are also known as melanocytic nevi or moles." [HPO:curators]
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 HP:0001022 Albinism 
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 HP:0001107 Ocular albinism 
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 HP:0001141 Severe visual impairment 
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 HP:0001425 Heterogeneous 
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 HP:0001480 Freckling 
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 HP:0001595 Hair abnormality 
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 HP:0001638 Cardiomyopathy 
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 HP:0002027 Abdominal pain 
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 HP:0002037 Inflammatory bowel disease 
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 HP:0002091 Restrictive lung disease 
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 HP:0002206 Pulmonary fibrosis 
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 HP:0002573 Hematochezia 
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 HP:0003010 Prolonged bleeding time 
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 HP:0007603 Freckles in sun-exposed areas 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000100099 HPS4 / Q9NQG7 / HPS4, biogenesis of lysosomal organelles complex 3 subunit 2  / complex
 ENSG00000123892 RAB38 / P57729 / RAB38, member RAS oncogene family  / reaction
 ENSG00000203668 CHML / P26374 / CHM like, Rab escort protein 2  / reaction
 ENSG00000118508 RAB32 / Q13637 / RAB32, member RAS oncogene family  / reaction
 ENSG00000188419 CHM / P24386 / CHM, Rab escort protein 1  / reaction
 ENSG00000057608 GDI2 / P50395 / GDP dissociation inhibitor 2  / reaction
 ENSG00000203879 GDI1 / P31150 / GDP dissociation inhibitor 1  / reaction






 

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