ENSMUSG00000068747


Mus musculus

Features
Gene ID: ENSMUSG00000068747
  
Biological name :Sort1
  
Synonyms : Q6PHU5 / Sort1 / Sortilin
  
Possible biological names infered from orthology : Q99523 / sortilin 1
  
Species: Mus musculus
  
Chr. number: 3
Strand: 1
Band: F2.3
Gene start: 108284082
Gene end: 108361511
  
Corresponding Affymetrix probe sets: 10495285 (MoGene1.0st)   1423362_at (Mouse Genome 430 2.0 Array)   1423363_at (Mouse Genome 430 2.0 Array)   1450955_s_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000099692
Ensembl peptide - ENSMUSP00000123564
NCBI entrez gene - 20661     See in Manteia.
MGI - MGI:1338015
RefSeq - XM_006501224
RefSeq - NM_001271599
RefSeq - NM_019972
RefSeq - XM_006501223
RefSeq Peptide - NP_001258528
RefSeq Peptide - NP_064356
swissprot - Q6PHU5
Ensembl - ENSMUSG00000068747
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 sort1aENSDARG00000029402Danio rerio
 sort1bENSDARG00000056252Danio rerio
 SORT1ENSGALG00000033572Gallus gallus
 SORT1ENSG00000134243Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Sorl1 / O88307 / Sortilin-related receptor / Q92673* / sortilin related receptor 1*ENSMUSG0000004931325
Q9EPR5 / Sorcs2 / sortilin-related VPS10 domain containing receptor 2 / Q96PQ0*ENSMUSG0000002909324
Q8VI51 / Sorcs3 / VPS10 domain-containing receptor SorCS3 / Q9UPU3* / sortilin related VPS10 domain containing receptor 3*ENSMUSG0000006343422
Sorcs1 / sortilin related VPS10 domain containing receptor 1 / Q8WY21*ENSMUSG0000004353122


Protein motifs (from Interpro)
Interpro ID Name
 IPR006581  VPS10
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR031777  Sortilin, C-terminal
 IPR031778  Sortilin, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001503 ossification IEA
 biological_processGO:0006895 Golgi to endosome transport ISO
 biological_processGO:0006897 endocytosis ISO
 biological_processGO:0007186 G-protein coupled receptor signaling pathway ISO
 biological_processGO:0007218 neuropeptide signaling pathway ISO
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0008333 endosome to lysosome transport ISO
 biological_processGO:0008625 extrinsic apoptotic signaling pathway via death domain receptors ISO
 biological_processGO:0010468 regulation of gene expression ISO
 biological_processGO:0014902 myotube differentiation IMP
 biological_processGO:0016050 vesicle organization IMP
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0032509 endosome transport via multivesicular body sorting pathway ISO
 biological_processGO:0032868 response to insulin IMP
 biological_processGO:0038180 nerve growth factor signaling pathway IEA
 biological_processGO:0045599 negative regulation of fat cell differentiation IDA
 biological_processGO:0046323 glucose import IMP
 biological_processGO:0048011 neurotrophin TRK receptor signaling pathway ISO
 biological_processGO:0048227 plasma membrane to endosome transport ISO
 biological_processGO:0051005 negative regulation of lipoprotein lipase activity ISO
 biological_processGO:1904037 positive regulation of epithelial cell apoptotic process IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005765 lysosomal membrane IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005769 early endosome ISO
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005794 Golgi apparatus ISO
 cellular_componentGO:0005829 cytosol ISO
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005905 clathrin-coated pit ISO
 cellular_componentGO:0009986 cell surface ISO
 cellular_componentGO:0010008 endosome membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane ISO
 cellular_componentGO:0030136 clathrin-coated vesicle ISO
 cellular_componentGO:0030140 trans-Golgi network transport vesicle IDA
 cellular_componentGO:0030425 dendrite IEA
 cellular_componentGO:0030659 cytoplasmic vesicle membrane IDA
 cellular_componentGO:0031410 cytoplasmic vesicle ISO
 cellular_componentGO:0031965 nuclear membrane IEA
 cellular_componentGO:0032580 Golgi cisterna membrane IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm ISO
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0010465 nerve growth factor receptor activity ISO
 molecular_functionGO:0019899 enzyme binding ISO
 molecular_functionGO:0030379 neurotensin receptor activity, non-G-protein coupled ISO
 molecular_functionGO:0048406 nerve growth factor binding ISO


Pathways (from Reactome)
Pathway description
Golgi Associated Vesicle Biogenesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000937 abnormal motor neuron morphology "malformation or absence of cells that innervate an effector (muscle or glandular) tissue; responsible for transmission of motor impulses" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
Show

Allelic Composition: ae/ae,Tbx15de-H/Tbx15de-H
Genetic Background: involves: BTBR * C3H/HeJ * C57BL/6 * P * S

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ngftm1.1Blhe/Ngf+,Sort1tm1Tew/Sort1tm1Tew
Genetic Background: B6.Cg-Ngftm1.1Blhe Sort1tm1Tew

 MP:0002795 dilated cardiomyopathy "decreased function of the heart associated with cardiac enlargement and congestive heart failure" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Ngftm1.1Blhe/Ngf+,Sort1tm1Tew/Sort1tm1Tew
Genetic Background: B6.Cg-Ngftm1.1Blhe Sort1tm1Tew

 MP:0002882 abnormal neuron "anomaly in the functional cells of the nervous system that receive, conduct, and transmit impulses " [MeSH:National Library of Medicine - Medical Subject Headings, 2003]
Show

Allelic Composition: ae/ae,Tbx15de-H/Tbx15de-H
Genetic Background: involves: BTBR * C3H/HeJ * C57BL/6 * P * S

 MP:0005058 abnormal lysosome morphology "anomalous structure of any of the cytoplasmic, membrane bound vesicles that contain a variety of hydrolases" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Col10a1tm1.1Rpbh/Col10a1+
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0005253 abnormal eye physiology "anomalous function and/or activity of the ocular system or any of its parts" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Col10a1tm1.1Rpbh/Col10a1+
Genetic Background: involves: 129/Sv * C57BL/6

 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"]
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Allelic Composition: ae/ae,Tbx15de-H/Tbx15de-H
Genetic Background: involves: BTBR * C3H/HeJ * C57BL/6 * P * S

 MP:0008752 abnormal tumor necrosis factor level "deviation from the normal levels of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium" [MESH:D12.644.276.374.500.800]
Show

Allelic Composition: Col10a1tm1.1Rpbh/Col10a1+
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0011110 partial preweaning lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
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Allelic Composition: Smurf2tm1b(EUCOMM)Wtsi/Smurf2tm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Smurf2tm1b(EUCOMM)Wtsi/H

  


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






 

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