ENSMUSG00000074811


Mus musculus

Features
Gene ID: ENSMUSG00000074811
  
Biological name :Hps6
  
Synonyms : Hermansky-Pudlak syndrome 6 protein homolog / Hps6 / Q8BLY7
  
Possible biological names infered from orthology : HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 / Q86YV9
  
Species: Mus musculus
  
Chr. number: 19
Strand: 1
Band: C3
Gene start: 46003478
Gene end: 46006173
  
Corresponding Affymetrix probe sets: 10463515 (MoGene1.0st)   1435932_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000096991
NCBI entrez gene - 20170     See in Manteia.
MGI - MGI:2181763
RefSeq - NM_176785
RefSeq Peptide - NP_789742
swissprot - Q8BLY7
Ensembl - ENSMUSG00000074811
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 HPS6ENSGALG00000020741Gallus gallus
 HPS6ENSG00000166189Homo sapiens


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 IMP
 biological_processGO:0007596 blood coagulation IMP
 biological_processGO:0030318 melanocyte differentiation IMP
 biological_processGO:0032418 lysosome localization IEA
 biological_processGO:0043473 pigmentation IMP
 biological_processGO:0072657 protein localization to membrane IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005765 lysosomal membrane ISO
 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 IEA
 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 IEA
 molecular_functionGO:0030742 GTP-dependent protein binding 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: Hps6ru/Hps6ru,Lystbg-slt/Lystbg-slt
Genetic Background: involves: YZ57/Ch

Allelic Composition: Hps6ru-7J/Hps6ru-7J
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Hps6ru-Btlr/Hps6ru-Btlr
Genetic Background: C57BL/6J-Hps6ru-Btlr

Allelic Composition: Hps6ru-6J/Hps6ru-6J
Genetic Background: involves: C3H/HeJ

Allelic Composition: Hps6ru-8J/Hps6ru-8J
Genetic Background: B6(CB17)-Hps6ru-8J/J

Allelic Composition: a/a,Hps6ru/Hps6ru
Genetic Background: Not Specified

Allelic Composition: a/a,Hps6ru-5J/Hps6ru-5J,Lystbg/Lystbg
Genetic Background: involves: C3H/Rl * C57BL/6J

Allelic Composition: Hps6ru-3J/Hps6ru-3J
Genetic Background: C57BL/6J-Hps6ru-3J

Allelic Composition: Hps6ru-4J/Hps6ru-4J
Genetic Background: SSL/LeJ

Allelic Composition: A/A,Hps6ru/Hps6ru
Genetic Background: Not Specified

Allelic Composition: a/a,Mregdsu/Mregdsu,Hps6ru/Hps6ru
Genetic Background: involves: C57BL/6J

 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: a/a,Hps6ru/Hps6ru
Genetic Background: Not Specified

Allelic Composition: a/a,Hps6ru-5J/Hps6ru-5J,Lystbg/Lystbg
Genetic Background: involves: C3H/Rl * C57BL/6J

Allelic Composition: Hps6ru-3J/Hps6ru-3J
Genetic Background: C57BL/6J-Hps6ru-3J

Allelic Composition: Hps6ru-4J/Hps6ru-4J
Genetic Background: SSL/LeJ

Allelic Composition: a/a,Hps6ru/Hps6ru
Genetic Background: involves: C57BL/6J

 MP:0002075 abnormal coat color "irregular or unusual pigmentation pattern of the hair in relation to control animals" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Tg(Myh6-Tnnt2*)1Feah/0,Tnnt2tm1Feah/Tnnt2+
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * FVB/N

Allelic Composition: a/a,Hps6ru-5J/Hps6ru-5J,Lystbg/Lystbg
Genetic Background: involves: C3H/Rl * C57BL/6J

Allelic Composition: Hps6ru-3J/Hps6ru-3J
Genetic Background: C57BL/6J-Hps6ru-3J

Allelic Composition: Hps6ru-4J/Hps6ru-4J
Genetic Background: SSL/LeJ

 MP:0002136 abnormal kidney physiology "altered ability or inability to excrete urine, not due to anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: a/a,Hps6ru/Hps6ru
Genetic Background: B6.Cg-Hps6ru

 MP:0003171 phenotypic reversion "reverse mutation to wild-type phenotype from a previously characterized mutant phenotype" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: a/a,Mregdsu/Mregdsu,Hps6ru/Hps6ru
Genetic Background: involves: C57BL/6J

 MP:0004165 abnormal lateral geniculate nucleus morphology "any malformation or absence of the group of neurons that serve as the primary processor of visual information received from the retina via the optic tract and send processed information to the visual cortex of the occipital lobe" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: a/a,Hps6ru/Hps6ru
Genetic Background: B6.Cg-Hps6ru

 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: a/a,Hps6ru/Hps6ru
Genetic Background: B6.Cg-Hps6ru

 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: a/a,Hps6ru/Hps6ru
Genetic Background: involves: C57BL/6J

Allelic Composition: a/a,Hps6ru/Hps6ru,Lystbg/Lystbg
Genetic Background: involves: C3H/Rl * C57BL/6J

 MP:0005077 abnormal melanogenesis "failure of or anomaly in the biosynthetic pathway of melanin formation in cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:5346]
Show

Allelic Composition: a/a,Hps6ru/Hps6ru
Genetic Background: involves: C57BL/6J

Allelic Composition: a/a,Hps6ru/Hps6ru,Lystbg/Lystbg
Genetic Background: involves: C3H/Rl * C57BL/6J

 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: a/a,Hps6ru/Hps6ru
Genetic Background: Not Specified

 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: a/a,Hps6ru/Hps6ru
Genetic Background: Not Specified

 MP:0005172 lack of eye pigmentation "visual organs are devoid of coloring pigment in relation to control animals, usually resulting in a red or pink color" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:83500]
Show

Allelic Composition: Hps6ru/Hps6ru,Lystbg-slt/Lystbg-slt
Genetic Background: involves: YZ57/Ch

Allelic Composition: Hps6ru-7J/Hps6ru-7J
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Hps6ru-6J/Hps6ru-6J
Genetic Background: involves: C3H/HeJ

Allelic Composition: Hps6ru-8J/Hps6ru-8J
Genetic Background: B6(CB17)-Hps6ru-8J/J

Allelic Composition: a/a,Hps6ru/Hps6ru
Genetic Background: Not Specified

Allelic Composition: a/a,Hps6ru-5J/Hps6ru-5J,Lystbg/Lystbg
Genetic Background: involves: C3H/Rl * C57BL/6J

Allelic Composition: Hps6ru-3J/Hps6ru-3J
Genetic Background: C57BL/6J-Hps6ru-3J

Allelic Composition: Hps6ru-4J/Hps6ru-4J
Genetic Background: SSL/LeJ

 MP:0005341 decreased susceptibility to atherosclerosis "less likely than the norm to develop thickening and loss of elasticity of arterial walls, involving lipid deposition and thickening of intimal layers within arteries" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: a/a,Hps6ru/Hps6ru
Genetic Background: B6.Cg-Hps6ru

 MP:0005408 hypopigmentation "dilution of the pigment in the body" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: a/a,Hps6ru/Hps6ru
Genetic Background: Not Specified

 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: a/a,Hps6ru/Hps6ru
Genetic Background: B6.Cg-Hps6ru

 MP:0008056 abnormal retinal ganglion cell morphology "any structural anomaly of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: a/a,Hps6ru/Hps6ru
Genetic Background: B6.Cg-Hps6ru

 MP:0008763 abnormal mast cell degranulation "abnormalities in the exocytosis of secretory granules containing preformed mediators such as histamine, serotonin, and neutral proteases by a mast cell" [GO:0043303, MGI:tmeehan "Terry Meehan, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Gt(ROSA)26Sortm1(Notch1)Dam/Gt(ROSA)26Sor+,Tg(Neurog3-cre/Esr1*)1Dam/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

 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: a/a,Hps6ru/Hps6ru
Genetic Background: B6.Cg-Hps6ru

 MP:0009557 decreased platelet ADP level "reduced concentration of the major energy source adenosine diphosphate produced by dense bodies located in platelets" [MGI:mberry "Melissa Berry, Genetics Resources Curator"]
Show

Allelic Composition: a/a,Hps6ru/Hps6ru
Genetic Background: B6.Cg-Hps6ru

 MP:0010192 abnormal retinal melanin granule morphology "any structural anomaly of the pigment particles in the retina" [ISBN-13:978-1-4051-2034-0 "The Pigmentary System, Second Edition"]
Show

Allelic Composition: a/a,Hps6ru/Hps6ru,Lystbg/Lystbg
Genetic Background: involves: C3H/Rl * C57BL/6J

 MP:0011279 decreased ear pigmentation "visually detectable dilution of pigment present in the outer ear" [MGI:csmith]
Show

Allelic Composition: Hps6ru-7J/Hps6ru-7J
Genetic Background: involves: 129S4/SvJae * C57BL/6

 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: a/a,Hps6ru/Hps6ru
Genetic Background: B6.Cg-Hps6ru

  


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






 

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