ENSMUSG00000044254


Mus musculus

Features
Gene ID: ENSMUSG00000044254
  
Biological name :Pcsk9
  
Synonyms : Pcsk9 / Proprotein convertase subtilisin/kexin type 9 / Q80W65
  
Possible biological names infered from orthology : Q8NBP7
  
Species: Mus musculus
  
Chr. number: 4
Strand: -1
Band: C7
Gene start: 106442329
Gene end: 106464329
  
Corresponding Affymetrix probe sets: 10514791 (MoGene1.0st)   1437453_s_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000055757
NCBI entrez gene - 100102     See in Manteia.
MGI - MGI:2140260
RefSeq - NM_153565
RefSeq Peptide - NP_705793
swissprot - Q80W65
Ensembl - ENSMUSG00000044254
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pcsk9ENSDARG00000074185Danio rerio
 PCSK9ENSG00000169174Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR000209  Peptidase S8/S53 domain
 IPR015500  Peptidase S8, subtilisin-related
 IPR034193  Proteinase K-like catalytic domain
 IPR036852  Peptidase S8/S53 domain superfamily
 IPR037045  Peptidase S8 propeptide/proteinase inhibitor I9 superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001822 kidney development IEP
 biological_processGO:0001889 liver development IEP
 biological_processGO:0001920 negative regulation of receptor recycling IEA
 biological_processGO:0002092 positive regulation of receptor internalization IEA
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006641 triglyceride metabolic process IDA
 biological_processGO:0006644 phospholipid metabolic process IDA
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0007041 lysosomal transport IEA
 biological_processGO:0008202 steroid metabolic process IEA
 biological_processGO:0008203 cholesterol metabolic process IDA
 biological_processGO:0009267 cellular response to starvation IEA
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0010989 negative regulation of low-density lipoprotein particle clearance IEA
 biological_processGO:0016485 protein processing IEA
 biological_processGO:0016540 protein autoprocessing IEA
 biological_processGO:0022008 neurogenesis IEP
 biological_processGO:0030182 neuron differentiation IMP
 biological_processGO:0032799 low-density lipoprotein receptor particle metabolic process IDA
 biological_processGO:0032802 low-density lipoprotein particle receptor catabolic process IEA
 biological_processGO:0032803 regulation of low-density lipoprotein particle receptor catabolic process IMP
 biological_processGO:0032805 positive regulation of low-density lipoprotein particle receptor catabolic process IEA
 biological_processGO:0032869 cellular response to insulin stimulus IDA
 biological_processGO:0042157 lipoprotein metabolic process IDA
 biological_processGO:0042632 cholesterol homeostasis ISS
 biological_processGO:0043523 regulation of neuron apoptotic process IMP
 biological_processGO:0043525 positive regulation of neuron apoptotic process ISS
 biological_processGO:1905596 negative regulation of low-density lipoprotein particle receptor binding IEA
 biological_processGO:1905598 negative regulation of low-density lipoprotein receptor activity IEA
 biological_processGO:1905601 negative regulation of receptor-mediated endocytosis involved in cholesterol transport IEA
 biological_processGO:2000650 negative regulation of sodium ion transmembrane transporter activity IEA
 cellular_componentGO:0005576 extracellular region IDA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005737 cytoplasm ISS
 cellular_componentGO:0005764 lysosome ISO
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005769 early endosome IEA
 cellular_componentGO:0005770 late endosome IEA
 cellular_componentGO:0005783 endoplasmic reticulum ISO
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 cellular_componentGO:0005791 rough endoplasmic reticulum IEA
 cellular_componentGO:0005794 Golgi apparatus ISO
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0009986 cell surface ISS
 cellular_componentGO:0030134 COPII-coated ER to Golgi transport vesicle IDA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 cellular_componentGO:1990666 PCSK9-LDLR complex IEA
 cellular_componentGO:1990667 PCSK9-AnxA2 complex IEA
 molecular_functionGO:0004252 serine-type endopeptidase activity ISS
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008236 serine-type peptidase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0019871 sodium channel inhibitor activity IEA
 molecular_functionGO:0030169 low-density lipoprotein particle binding IDA
 molecular_functionGO:0030547 receptor inhibitor activity IEA
 molecular_functionGO:0034185 apolipoprotein binding IDA
 molecular_functionGO:0034189 very-low-density lipoprotein particle binding IDA
 molecular_functionGO:0034190 apolipoprotein receptor binding IEA
 molecular_functionGO:0043621 protein self-association IEA
 molecular_functionGO:0050750 low-density lipoprotein particle receptor binding IDA
 molecular_functionGO:0070326 very-low-density lipoprotein particle receptor binding IEA


Pathways (from Reactome)
Pathway description
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
VLDLR internalisation and degradation
Post-translational protein phosphorylation
LDL clearance


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000182 increased circulating LDL cholesterol level "greater than average concentration in the blood of low density lipoprotein, which normally transports cholesterol to tissues other than the liver" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Vhltm1Jae/Vhltm1Jae,Tg(Cdh16-cre)91Igr/0
Genetic Background: involves: 129S4/SvJae * BALB/c * C57BL/6J * ICR

 MP:0000183 decreased circulating LDL cholesterol level "less than average concentration in the blood of low density lipoprotein, which normally transports cholesterol to tissues other than the liver" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Ppiftm1Tsu/Ppiftm1Tsu
Genetic Background: involves: 129S5/SvEvBrd

Allelic Composition: Pcsk9tm1.1Prat/Pcsk9tm1.1Prat,Speer6-ps1Tg(Alb-cre)21Mgn/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA

Allelic Composition: Pcsk9tm1.2Prat/Pcsk9tm1.2Prat
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Pcsk9m1Bms/Pcsk9m1Bms
Genetic Background: B6.Cg-Pcsk9m1Bms

Allelic Composition: Pcsk9m1Bms/Pcsk9+
Genetic Background: B6.Cg-Pcsk9m1Bms

 MP:0000186 decreased circulating HDL cholesterol level "lower than average level of high density lipoprotein in blood; this molecule transports cholesterol to the liver for excretion in bile" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ppiftm1Tsu/Ppiftm1Tsu
Genetic Background: involves: 129S5/SvEvBrd

Allelic Composition: Pcsk9tm1.1Prat/Pcsk9tm1.1Prat,Speer6-ps1Tg(Alb-cre)21Mgn/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA

Allelic Composition: Pcsk9tm1.2Prat/Pcsk9tm1.2Prat
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0002658 abnormal liver regeneration "deviation from the normal ability of liver to regenerate healthy tissue following partial hepatectomy" [il:Ira Lu , Mouse Genome Informatics Curator]
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Allelic Composition: Pcsk9tm1.2Prat/Pcsk9tm1.2Prat
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004789 increased bile salt level "increased concentration of the steroid salts derived from cholesterol in the liver, produced as bile acids and secreted in the biliary sytem as bile salts; these play an important role in the digestion and absorption of fats" [MESH:D04.808.105, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcsk9m1Bms/Pcsk9m1Bms
Genetic Background: B6.Cg-Pcsk9m1Bms

 MP:0005179 decreased total circulating cholesterol level "less than the normal concentration in the blood of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Ppiftm1Tsu/Ppiftm1Tsu
Genetic Background: involves: 129S5/SvEvBrd

Allelic Composition: Pcsk9tm1.1Prat/Pcsk9tm1.1Prat,Speer6-ps1Tg(Alb-cre)21Mgn/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA

Allelic Composition: Pcsk9tm1.2Prat/Pcsk9tm1.2Prat
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005278 abnormal cholesterol homeostasis "anomaly in the state of equilibrium in the body of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:71350]
Show

Allelic Composition: Pcsk9tm1.2Prat/Pcsk9tm1.2Prat
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005517 decreased liver regeneration "less than the normal ability of liver to regenerate healthy tissue following partial hepatectomy" [RGD:Rat Genome Database submission, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Pcsk9tm1.2Prat/Pcsk9tm1.2Prat
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000024924 Vldlr / P98156 / very low density lipoprotein receptor / P98155*  / reaction / complex
 ENSMUSG00000032193 Ldlr / P35951 / Low-density lipoprotein receptor / P01130*  / reaction / complex
 ENSMUSG00000035152 Ap2b1 / Q9DBG3 / AP-2 complex subunit beta / P63010* / adaptor related protein complex 2 beta 1 subunit*  / reaction / complex
 ENSMUSG00000002957 Ap2a2 / P17427 / Mus musculus adaptor-related protein complex 2, alpha 2 subunit (Ap2a2), transcript variant 1, mRNA. / O94973* / adaptor related protein complex 2 alpha 2 subunit*  / complex / reaction
 ENSMUSG00000022841 Ap2m1 / P84091 / AP-2 complex subunit mu / Q96CW1* / adaptor related protein complex 2 mu 1 subunit*  / complex / reaction
 ENSMUSG00000008036 Ap2s1 / P62743 / AP-2 complex subunit sigma / P53680* / adaptor related protein complex 2 sigma 1 subunit*  / complex / reaction
 ENSMUSG00000060279 Ap2a1 / P17426 / AP-2 complex subunit alpha-1 / O95782* / adaptor related protein complex 2 alpha 1 subunit*  / complex / reaction






 

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