ENSMUSG00000049313


Mus musculus

Features
Gene ID: ENSMUSG00000049313
  
Biological name :Sorl1
  
Synonyms : O88307 / Sorl1 / Sortilin-related receptor
  
Possible biological names infered from orthology : Q92673 / sortilin related receptor 1
  
Species: Mus musculus
  
Chr. number: 9
Strand: -1
Band: A5.1
Gene start: 41964720
Gene end: 42124297
  
Corresponding Affymetrix probe sets: 10592535 (MoGene1.0st)   1426258_at (Mouse Genome 430 2.0 Array)   1453003_at (Mouse Genome 430 2.0 Array)   1460390_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000058613
NCBI entrez gene - 20660     See in Manteia.
MGI - MGI:1202296
RefSeq - NM_011436
RefSeq - XM_017313238
RefSeq Peptide - NP_035566
swissprot - O88307
Ensembl - ENSMUSG00000049313
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 sorl1ENSDARG00000013892Danio rerio
 SORL1ENSGALG00000006598Gallus gallus
 SORL1ENSG00000137642Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Sorcs1 / sortilin related VPS10 domain containing receptor 1 / Q8WY21*ENSMUSG0000004353112
Q9EPR5 / Sorcs2 / sortilin-related VPS10 domain containing receptor 2 / Q96PQ0*ENSMUSG0000002909312
Q8VI51 / Sorcs3 / VPS10 domain-containing receptor SorCS3 / Q9UPU3* / sortilin related VPS10 domain containing receptor 3*ENSMUSG0000006343412
Sort1 / Q6PHU5 / Sortilin / Q99523* / sortilin 1*ENSMUSG0000006874710


Protein motifs (from Interpro)
Interpro ID Name
 IPR000033  LDLR class B repeat
 IPR002172  Low-density lipoprotein (LDL) receptor class A repeat
 IPR003961  Fibronectin type III
 IPR006581  VPS10
 IPR011042  Six-bladed beta-propeller, TolB-like
 IPR013783  Immunoglobulin-like fold
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR023415  Low-density lipoprotein (LDL) receptor class A, conserved site
 IPR031777  Sortilin, C-terminal
 IPR031778  Sortilin, N-terminal
 IPR036055  LDL receptor-like superfamily
 IPR036116  Fibronectin type III superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006605 protein targeting IEA
 biological_processGO:0006622 protein targeting to lysosome IEA
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006869 lipid transport IEA
 biological_processGO:0006892 post-Golgi vesicle-mediated transport IEA
 biological_processGO:0006897 endocytosis IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0008202 steroid metabolic process IEA
 biological_processGO:0008203 cholesterol metabolic process IEA
 biological_processGO:0014910 regulation of smooth muscle cell migration IEA
 biological_processGO:0032091 negative regulation of protein binding IEA
 biological_processGO:0032460 negative regulation of protein oligomerization IEA
 biological_processGO:0034067 protein localization to Golgi apparatus IEA
 biological_processGO:0043407 negative regulation of MAP kinase activity IMP
 biological_processGO:0045053 protein retention in Golgi apparatus IMP
 biological_processGO:0045732 positive regulation of protein catabolic process IEA
 biological_processGO:0050768 negative regulation of neurogenesis IMP
 biological_processGO:0051604 protein maturation IEA
 biological_processGO:0070863 positive regulation of protein exit from endoplasmic reticulum IEA
 biological_processGO:1901215 negative regulation of neuron death IMP
 biological_processGO:1902430 negative regulation of amyloid-beta formation IMP
 biological_processGO:1902771 positive regulation of choline O-acetyltransferase activity IMP
 biological_processGO:1902948 negative regulation of tau-protein kinase activity IMP
 biological_processGO:1902953 positive regulation of ER to Golgi vesicle-mediated transport IEA
 biological_processGO:1902955 positive regulation of early endosome to recycling endosome transport IEA
 biological_processGO:1902960 negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process IMP
 biological_processGO:1902963 negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process IMP
 biological_processGO:1902966 positive regulation of protein localization to early endosome IEA
 biological_processGO:1902997 negative regulation of neurofibrillary tangle assembly IMP
 biological_processGO:2001137 positive regulation of endocytic recycling IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005641 nuclear envelope lumen IDA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005769 early endosome IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005794 Golgi apparatus ISO
 cellular_componentGO:0005802 trans-Golgi network IEA
 cellular_componentGO:0016020 membrane ISO
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031985 Golgi cisterna IEA
 cellular_componentGO:0034362 low-density lipoprotein particle IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm ISO
 cellular_componentGO:0055037 recycling endosome IEA
 molecular_functionGO:0001540 amyloid-beta binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0030169 low-density lipoprotein particle binding IEA
 molecular_functionGO:0030306 ADP-ribosylation factor binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001038 abnormal cholinergic neuron morphology "malformation or absence of the neurons that utilize acetylcholine as a neurotransmitter " [Principles of Neural Science, 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Cdkn1btm1Mlf/Cdkn1b+,Tg(TG-TPR/NTRK1)#Rstn/0
Genetic Background: involves: 129S4/SvJaeSor * C3H * C57BL/6 * C57BL/6J

Allelic Composition: Sorl1tm1Tew/Sorl1tm1Tew,Tg(CMV-IgkvaD11)BCat/Tg(CMV-IgkvaD11)BCat
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0001458 abnormal object recognition memory "defects in the ability to recognize objects that the animal has previously encountered; recognition is measured by relative amount of time exploring objects, which should decrease upon subsequent or multiple presentations of the same object when presented with novel objects at the same time" [CFG:Center for Functional Genomics , Northwestern University]
Show

Allelic Composition: Cdkn1btm1Mlf/Cdkn1b+,Tg(TG-TPR/NTRK1)#Rstn/0
Genetic Background: involves: 129S4/SvJaeSor * C3H * C57BL/6 * C57BL/6J

Allelic Composition: Sorl1tm1Tew/Sorl1tm1Tew,Tg(CMV-IgkvaD11)BCat/Tg(CMV-IgkvaD11)BCat
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0003224 neuron degeneration "a retrogressive impairment of function or destruction of the functional cells of the nervous system that receive, conduct, and transmit impulses " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Cdkn1btm1Mlf/Cdkn1b+,Tg(TG-TPR/NTRK1)#Rstn/0
Genetic Background: involves: 129S4/SvJaeSor * C3H * C57BL/6 * C57BL/6J

 MP:0003329 amyloid beta deposits 
Show

Allelic Composition: Icam1tm1Alb/Icam1tm1Alb
Genetic Background: B6.Cg-Icam1tm1Alb

Allelic Composition: Sorl1Gt(Ex255)Byg/Sorl1Gt(Ex255)Byg
Genetic Background: B6.129P2-Sorl1Gt(Ex255)Byg

Allelic Composition: Sorl1tm1Tew/Sorl1tm1Tew,Tg(APP695)3Dbo/0,Tg(PSEN1dE9)S9Dbo/0
Genetic Background: involves: 129 * C3H/HeJ * C57BL/6

Allelic Composition: Sorl1tm1Tew/Sorl1tm1Tew
Genetic Background: involves: 129 * C57BL/6 * SJL

Allelic Composition: Sorl1tm1Tew/Sorl1tm1Tew,Tg(CMV-IgkvaD11)BCat/Tg(CMV-IgkvaD11)BCat
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0004250 tau protein deposits "formation of self-assembled tangles of paired helical filaments and straight filaments due to hyperphosphorylation of the tau protein; often seen in neuronal tissues of individuals with neurodegenerative disorders" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Sorl1tm1Tew/Sorl1tm1Tew
Genetic Background: involves: 129 * C57BL/6 * SJL

Allelic Composition: Sorl1tm1Tew/Sorl1tm1Tew,Tg(CMV-IgkvaD11)BCat/Tg(CMV-IgkvaD11)BCat
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0004883 abnormal blood vessel healing "anomaly in the repair process of blood vessels after injury" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: ArTfm/Y
Genetic Background: involves: NMRI * STOCK EdaTa Atp7aMo-blo

 MP:0005595 abnormal vascular smooth muscle physiology "anomalous function of the nonstriated, involuntary muscle tissue of the blood vessels" [RGD:Rat Genome Database submission, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: ArTfm/Y
Genetic Background: involves: NMRI * STOCK EdaTa Atp7aMo-blo

 MP:0012307 impaired spatial learning "impaired ability to ascertain or acquire spatial location information in order to improve navigation or other behavior using such location cues" [MGI:csmith]
Show

Allelic Composition: Sorl1tm1Tew/Sorl1tm1Tew
Genetic Background: involves: 129 * C57BL/6 * SJL

Allelic Composition: Sorl1tm1Tew/Sorl1tm1Tew,Tg(CMV-IgkvaD11)BCat/Tg(CMV-IgkvaD11)BCat
Genetic Background: involves: 129 * C57BL/6 * SJL

  


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






 

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