ENSMUSG00000014418


Mus musculus

Features
Gene ID: ENSMUSG00000014418
  
Biological name :Hps5
  
Synonyms : Hermansky-Pudlak syndrome 5 protein homolog / Hps5 / P59438
  
Possible biological names infered from orthology : HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 / Q9UPZ3
  
Species: Mus musculus
  
Chr. number: 7
Strand: -1
Band: B3
Gene start: 46760466
Gene end: 46796064
  
Corresponding Affymetrix probe sets: 10563615 (MoGene1.0st)   1434677_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000115786
Ensembl peptide - ENSMUSP00000147976
Ensembl peptide - ENSMUSP00000147750
Ensembl peptide - ENSMUSP00000147450
Ensembl peptide - ENSMUSP00000147406
Ensembl peptide - ENSMUSP00000122887
Ensembl peptide - ENSMUSP00000119876
Ensembl peptide - ENSMUSP00000116770
Ensembl peptide - ENSMUSP00000014562
Ensembl peptide - ENSMUSP00000103280
Ensembl peptide - ENSMUSP00000103281
Ensembl peptide - ENSMUSP00000114384
NCBI entrez gene - 246694     See in Manteia.
MGI - MGI:2180307
RefSeq - XM_017322269
RefSeq - NM_001005247
RefSeq - NM_001005248
RefSeq - NM_001167864
RefSeq - XM_006540904
RefSeq - XM_006540905
RefSeq - XM_006540906
RefSeq - XM_006540907
RefSeq - XM_017322268
RefSeq Peptide - NP_001005248
RefSeq Peptide - NP_001005247
RefSeq Peptide - NP_001161336
swissprot - D3YYJ4
swissprot - A0A1B0GSK6
swissprot - A0A1B0GS11
swissprot - A0A1B0GRB1
swissprot - A0A1B0GR75
swissprot - F6Q7C7
swissprot - F6YT95
swissprot - D3Z3L4
swissprot - P59438
swissprot - E9Q3X4
Ensembl - ENSMUSG00000014418
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 hps5ENSDARG00000071062Danio rerio
 ENSGALG00000032502Gallus gallus
 ENSGALG00000006266Gallus gallus
 HPS5ENSG00000110756Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Tecpr2 / tectonin beta-propeller repeat-containing protein 2 isoform 2 / O15040* / tectonin beta-propeller repeat containing 2*ENSMUSG0000002127520


Protein motifs (from Interpro)
Interpro ID Name
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR035431  Hermansky-Pudlak syndrome 5 protein
 IPR036322  WD40-repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006996 organelle organization IMP
 biological_processGO:0007596 blood coagulation IMP
 biological_processGO:0043473 pigmentation IMP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0031084 BLOC-2 complex IEA
 molecular_functionGO:0005515 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]
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Allelic Composition: Roratm1Vgi/Roratm1Vgi
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

Allelic Composition: Hps5ru2-hz/Hps5ru2-hz
Genetic Background: DBA/2J

Allelic Composition: Hps5ru2-mr/Hps5ru2-mr
Genetic Background: Not Specified

Allelic Composition: Hps5ru2-r/Hps5ru2-r
Genetic Background: C57BL/10

Allelic Composition: Hps5ru2-Btlr/Hps5ru2-Btlr
Genetic Background: C57BL/6J-Hps5ru2-Btlr

Allelic Composition: Hps5ru2-2Btlr/Hps5ru2-2Btlr
Genetic Background: C57BL/6J-Hps5ru2-2Btlr

Allelic Composition: Hps5ru2-8J/Hps5ru2-8J
Genetic Background: involves: C3H/HeJ

Allelic Composition: Hps5ru2-3Btlr/Hps5ru2-3Btlr
Genetic Background: C57BL/6J-Hps5ru2-3Btlr

Allelic Composition: Hps5ru2-4Btlr/Hps5ru2-4Btlr
Genetic Background: C57BL/6J-Hps5ru2-4Btlr

 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: Amhr2tm3(cre)Bhr/Amhr2+,Smad1tm2Rob/Smad1tm2Rob,Smad5tm1Huy/Smad5tm1Zuk
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6J

Allelic Composition: Hps5ru2-8J/Hps5ru2-8J
Genetic Background: involves: C3H/HeJ

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

 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: Hps5ru2-hz/Hps5ru2-hz
Genetic Background: DBA/2J

 MP:0002412 increased susceptibility to bacterial infection "greater likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Hps5ru2-Btlr/Hps5ru2-Btlr
Genetic Background: C57BL/6J-Hps5ru2-Btlr

 MP:0002418 increased susceptibility to viral infection "greater likelihood that an organism will develop ill effects from a viral infection or from components of or toxins produced by a virus" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Hps5ru2-Btlr/Hps5ru2-Btlr
Genetic Background: C57BL/6J-Hps5ru2-Btlr

 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: Brca1tm1Thl/Brca1tm1Thl,Waptm1(cre)Arge/0
Genetic Background: involves: 129S1/Sv * 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: Amhr2tm3(cre)Bhr/Amhr2+,Smad1tm2Rob/Smad1tm2Rob,Smad5tm1Huy/Smad5tm1Zuk
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6J

 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: Hps5ru2-hz/Hps5ru2-hz
Genetic Background: DBA/2J

Allelic Composition: Hps5ru2-mr/Hps5ru2-mr
Genetic Background: Not Specified

Allelic Composition: Hps5ru2-r/Hps5ru2-r
Genetic Background: C57BL/10

Allelic Composition: Hps5ru2-Btlr/Hps5ru2-Btlr
Genetic Background: C57BL/6J-Hps5ru2-Btlr

Allelic Composition: Hps5ru2-8J/Hps5ru2-8J
Genetic Background: involves: C3H/HeJ

 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]
Show

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Smad1tm2Rob/Smad1tm2Rob,Smad5tm1Huy/Smad5tm1Zuk
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6J

 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: Brca1tm1Thl/Brca1tm1Thl,Waptm1(cre)Arge/0
Genetic Background: involves: 129S1/Sv * C57BL/6J

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

Allelic Composition: Hps5ru2-4Btlr/Hps5ru2-4Btlr
Genetic Background: C57BL/6J-Hps5ru2-4Btlr

 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: Brca1tm1Thl/Brca1tm1Thl,Waptm1(cre)Arge/0
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0009379 abnormal foot pigmentation "anomaly in the coloration of the foot" [MGI:mberry "Melissa Berry, Genetics Resources Curator"]
Show

Allelic Composition: Hps5ru2-Btlr/Hps5ru2-Btlr
Genetic Background: C57BL/6J-Hps5ru2-Btlr

 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: Brca1tm1Thl/Brca1tm1Thl,Waptm1(cre)Arge/0
Genetic Background: involves: 129S1/Sv * C57BL/6J

 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: Brca1tm1Thl/Brca1tm1Thl,Waptm1(cre)Arge/0
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0009643 abnormal urine homeostasis "anomaly in the processes involved in the maintenance of an internal equilibrium of various functions and chemical or protein composition of the urine" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hps5ru2-hz/Hps5ru2-hz
Genetic Background: DBA/2J

 MP:0011277 decreased tail pigmentation "visually detectable dilution of pigment present on the tail surface" [MGI:csmith]
Show

Allelic Composition: Hps5ru2-Btlr/Hps5ru2-Btlr
Genetic Background: C57BL/6J-Hps5ru2-Btlr

Allelic Composition: Hps5ru2-3Btlr/Hps5ru2-3Btlr
Genetic Background: C57BL/6J-Hps5ru2-3Btlr

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

Allelic Composition: Hps5ru2-Btlr/Hps5ru2-Btlr
Genetic Background: C57BL/6J-Hps5ru2-Btlr

Allelic Composition: Hps5ru2-3Btlr/Hps5ru2-3Btlr
Genetic Background: C57BL/6J-Hps5ru2-3Btlr

 MP:0011568 decreased foot pigmentation "visually detectable dilution of pigment present on the foot surface" [MGI:csmith]
Show

Allelic Composition: Hps5ru2-3Btlr/Hps5ru2-3Btlr
Genetic Background: C57BL/6J-Hps5ru2-3Btlr

 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: Brca1tm1Thl/Brca1tm1Thl,Waptm1(cre)Arge/0
Genetic Background: involves: 129S1/Sv * C57BL/6J

  


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






 

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