ENSMUSG00000042328


Mus musculus

Features
Gene ID: ENSMUSG00000042328
  
Biological name :Hps4
  
Synonyms : Hermansky-Pudlak syndrome 4 protein homolog / Hps4 / Q99KG7
  
Possible biological names infered from orthology : HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 / Q9NQG7
  
Species: Mus musculus
  
Chr. number: 5
Strand: 1
Band: F
Gene start: 112343083
Gene end: 112378414
  
Corresponding Affymetrix probe sets: 10524369 (MoGene1.0st)   1448629_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000047920
Ensembl peptide - ENSMUSP00000107978
NCBI entrez gene - 192232     See in Manteia.
MGI - MGI:2177742
RefSeq - XM_006534832
RefSeq - NM_138646
RefSeq - XM_006534830
RefSeq - XM_006534831
RefSeq Peptide - NP_619587
swissprot - Q541V2
swissprot - Q99KG7
Ensembl - ENSMUSG00000042328
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 hps4ENSDARG00000013795Danio rerio
 HPS4ENSGALG00000005595Gallus gallus
 HPS4ENSG00000100099Homo sapiens


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 ISS
 biological_processGO:0006996 organelle organization IMP
 biological_processGO:0007040 lysosome organization ISS
 biological_processGO:0007596 blood coagulation IMP
 biological_processGO:0030318 melanocyte differentiation IMP
 biological_processGO:0050821 protein stabilization ISS
 biological_processGO:0065009 regulation of molecular function IEA
 biological_processGO:1903232 melanosome assembly ISS
 biological_processGO:1903955 positive regulation of protein targeting to mitochondrion ISO
 cellular_componentGO:0005737 cytoplasm ISS
 cellular_componentGO:0005764 lysosome ISO
 cellular_componentGO:0016020 membrane ISO
 cellular_componentGO:0031085 BLOC-3 complex ISO
 cellular_componentGO:0031410 cytoplasmic vesicle IDA
 cellular_componentGO:0042470 melanosome ISO
 cellular_componentGO:0042827 platelet dense granule ISO
 molecular_functionGO:0005085 guanyl-nucleotide exchange factor activity ISO
 molecular_functionGO:0017137 Rab GTPase binding ISO
 molecular_functionGO:0042803 protein homodimerization activity ISS
 molecular_functionGO:0046983 protein dimerization activity ISO


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


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000015 abnormal ear pigmentation "anomaly in the coloration of the ear" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Foxe1tm1Rdl/Foxe1tm1Rdl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 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: Foxe1tm1Rdl/Foxe1tm1Rdl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 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]
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Allelic Composition: Foxe1tm1Rdl/Foxe1tm1Rdl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0002095 abnormal skin pigmentation "variation of skin color or complexion" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Foxe1tm1Rdl/Foxe1tm1Rdl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0002963 decreased protein excretion "less than the normal amount of serum proteins voided by the kidneys" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Hps4le/Hps4le
Genetic Background: B6.C3-Pde6brd1 Hps4le

 MP:0003173 decreased lysosomal enzyme secretion "production of glycoprotein hydrolytic enzymes is decreased compared to normal" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hps4le/Hps4le
Genetic Background: B6.C3-Pde6brd1 Hps4le

 MP:0003174 increased lysosomal enzyme secretion "production of glycoprotein hydrolytic enzymes is increased compared to normal" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hps4le/Hps4le
Genetic Background: B6.C3-Pde6brd1 Hps4le

 MP:0003733 abnormal inner nuclear layer morphology "malformation/anomalous structure of the retinal layer which contains the cell bodies of bipolar, horizontal, and amacrine cells" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Opn4tm1Skay/Opn4tm1Skay
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0004721 abnormal platelet dense granule morphology "any structural anomaly of the electron-dense bodies occurring in blood platelets that store and secrete adenosine nucleotides and serotonin" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hps4le/Hps4le
Genetic Background: B6.C3-Pde6brd1 Hps4le

 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: Hps4le/Hps4le
Genetic Background: B6.C3-Pde6brd1 Hps4le

 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: Foxe1tm1Rdl/Foxe1tm1Rdl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Hps4le/Hps4le
Genetic Background: B6.C3-Pde6brd1 Hps4le

 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: Hps4le/Hps4le
Genetic Background: B6.C3-Pde6brd1 Hps4le

 MP:0005201 abnormal retinal pigment epithelium morphology "anomaly in the epithelial layer of the retina composed of cells containing pigment granules " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Hps4le/Hps4le
Genetic Background: B6.C3-Pde6brd1 Hps4le

 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]
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Allelic Composition: Hps4le/Hps4le
Genetic Background: B6.C3-Pde6brd1 Hps4le

 MP:0005464 abnormal platelet physiology "atypical response of the non-nucleated cells found in the blood and involved in blood coagulation" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Hps4le/Hps4le
Genetic Background: B6.C3-Pde6brd1 Hps4le

 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]
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Allelic Composition: Hps4le/Hps4le
Genetic Background: B6.C3-Pde6brd1 Hps4le

 MP:0006298 abnormal platelet activation "anomaly in the series of progressive, overlapping events triggered by exposure of platelets to signals from subendothelial tissue, including shape change, adhesiveness, aggregation, and release reactions; when carried through to completion, these events lead to the formation of a stable hemostatic plug" [GO:0030168, MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Dysfim/Dysfim,Large1myd/Large1myd
Genetic Background: involves: C57BL/6 * SJL/J

 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: Dysfim/Dysfim,Large1myd/Large1myd
Genetic Background: involves: C57BL/6 * SJL/J

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

Allelic Composition: Opn4tm1Skay/Opn4tm1Skay
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000078185 Chml / choroideremia-like / P26374* / CHM like, Rab escort protein 2*  / reaction
 ENSMUSG00000030559 Rab38 / Q8QZZ8 / RAB38, member RAS oncogene family / P57729*  / reaction
 ENSMUSG00000021218 Gdi2 / Q61598 / Rab GDP dissociation inhibitor beta / P50395* / GDP dissociation inhibitor 2*  / reaction
 ENSMUSG00000015291 Gdi1 / P50396 / Rab GDP dissociation inhibitor alpha / P31150* / GDP dissociation inhibitor 1*  / reaction
 ENSMUSG00000025531 Chm / choroidermia (RAB escort protein 1) / P24386* / CHM, Rab escort protein 1*  / reaction
 ENSMUSG00000019832 Rab32 / Q9CZE3 / RAB32, member RAS oncogene family / Q13637*  / reaction






 

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