ENSMUSG00000027615


Mus musculus

Features
Gene ID: ENSMUSG00000027615
  
Biological name :Hps3
  
Synonyms : Hermansky-Pudlak syndrome 3 protein homolog / Hps3 / Q91VB4
  
Possible biological names infered from orthology : HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 / Q969F9
  
Species: Mus musculus
  
Chr. number: 3
Strand: -1
Band: A2
Gene start: 19995945
Gene end: 20035315
  
Corresponding Affymetrix probe sets: 10497421 (MoGene1.0st)   1450647_at (Mouse Genome 430 2.0 Array)   1459772_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000012580
Ensembl peptide - ENSMUSP00000103957
NCBI entrez gene - 12807     See in Manteia.
MGI - MGI:2153839
RefSeq - XM_006535380
RefSeq - NM_001146323
RefSeq - NM_080634
RefSeq - XM_006535377
RefSeq - XM_006535378
RefSeq - XM_006535379
RefSeq Peptide - NP_001139795
RefSeq Peptide - NP_542365
swissprot - E9PZY1
swissprot - Q91VB4
Ensembl - ENSMUSG00000027615
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 hps3ENSDARG00000015749Danio rerio
 HPS3ENSGALG00000040089Gallus gallus
 HPS3ENSG00000163755Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR017216  Hermansky-Pudlak syndrome 3 protein
 IPR028167  Hermansky-Pudlak syndrome 3, central region
 IPR029437  Hermansky-Pudlak syndrome 3 protein, N-terminal domain
 IPR029438  Hermansky-Pudlak syndrome 3 protein, C-terminal domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006996 organelle organization IMP
 biological_processGO:0043473 pigmentation IMP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0031084 BLOC-2 complex IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000371 diluted coat color "a coat color that appears lighter in intensity or paler than normal" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Chek1tm1Sje/Chek1tm1Sje
Genetic Background: Not Specified

Allelic Composition: Hps3coa/Hps3coa
Genetic Background: involves: C57BL/10J

Allelic Composition: Hps3coa/Hps3coa,Myo5ad/Myo5ad,Mregdsu/Mregdsu
Genetic Background: involves: C57BL/10J

Allelic Composition: Hps3coa-7J/Hps3coa-7J
Genetic Background: C3H/HeJ-Hps3coa-7J/GrsrJ

Allelic Composition: Hps3coa-8J/Hps3coa-8J
Genetic Background: C57BL/6J-Hps3coa-8J/GrsrJ

Allelic Composition: Hps3coa-Btlr/Hps3coa-Btlr
Genetic Background: C57BL/6J-Hps3coa-Btlr

Allelic Composition: Hps3coa-2Btlr/Hps3coa-2Btlr
Genetic Background: C57BL/6J-Hps3coa-2Btlr

Allelic Composition: Hps3coa-3Btlr/Hps3coa-3Btlr
Genetic Background: C57BL/6J-Hps3coa-3Btlr

 MP:0001324 abnormal eye pigmentation "change in the normal black pigmentation of the eye to another color, or lack of color" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hps3coa/Hps3coa,Myo5ad/Myo5ad,Mregdsu/Mregdsu
Genetic Background: involves: C57BL/10J

Allelic Composition: Hps3coa-7J/Hps3coa-7J
Genetic Background: C3H/HeJ-Hps3coa-7J/GrsrJ

 MP:0002551 abnormal blood coagulation "altered ability or inability of the blood to clot" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Chek1tm1Sje/Chek1tm1Sje
Genetic Background: Not Specified

 MP:0004725 decreased platelet serotonin level "reduced concentration of serotonin in the platelets; this biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Hps3coa/Hps3coa
Genetic Background: involves: C57BL/10J

 MP:0005075 abnormal melanosome morphology "anomalous structure of these tissue-specific cytoplasmic organelles within which melanin pigments are synthesized and stored" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:5346]
Show

Allelic Composition: Hps3coa/Hps3coa
Genetic Background: involves: C57BL/10J

 MP:0005100 abnormal choroid pigmentation "anomalous coloring of the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Hps3coa/Hps3coa
Genetic Background: involves: C57BL/10J

 MP:0005102 abnormal iris pigmentation "anomalous coloring of the adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Hrrh/Hrrh
Genetic Background: RHJ/LeJ

 MP:0005103 abnormal retinal pigmentation "anomalous coloring of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Hps3coa/Hps3coa
Genetic Background: involves: C57BL/10J

 MP:0005606 increased bleeding time "greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]
Show

Allelic Composition: Chek1tm1Sje/Chek1tm1Sje
Genetic Background: Not Specified

Allelic Composition: Hps3coa/Hps3coa
Genetic Background: involves: C57BL/10J

 MP:0008480 absent eye pigmentation "absence of melanin (pigment) in the eye either due to absent melanocytes or failure of melanin synthesis" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hps3coa/Hps3coa
Genetic Background: involves: C57BL/10J

 MP:0009446 abnormal platelet dense granule physiology "any functional anomaly of the specialized secretory organelles located in the small, irregularly shaped anuclear cells derived from fragmentation of precursor megakaryocytes that contain adenine nucleotides (ADP and ATP), ionized calcium, histamine, serotonin, and epinephrine" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hps3coa/Hps3coa
Genetic Background: involves: C57BL/10J

 MP:0009448 decreased platelet ATP level "reduced concentration of the major energy source adenosine triphosphate produced by dense bodies located in platelets" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hps3coa/Hps3coa
Genetic Background: involves: C57BL/10J

 MP:0009549 impaired platelet aggregation "decrease in the ability of one platelet to one or more other platelets via adhesion molecules" [GO:0070527]
Show

Allelic Composition: Hps3coa/Hps3coa
Genetic Background: involves: C57BL/10J

 MP:0020432 decreased platelet dense granule number "decreased number of the electron-dense bodies occurring in blood platelets that store and secrete adenosine nucleotides and serotonin" [orcid.org/0000-0003-4606-0597]
Show

Allelic Composition: Hps3coa/Hps3coa
Genetic Background: involves: C57BL/10J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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