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Sorl1
Gene Detail
 Symbol
Name
ID
Sorl1
sortilin-related receptor, LDLR class A repeats-containing
MGI:1202296
Synonyms 2900010L19Rik, LR11, mSorLA, Sorla
Feature Type protein coding gene
Genetic Map
Chromosome 9
23.55 cM, cytoband B
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
Chr9:41964720-42124297 bp, - strand
From VEGA annotation of GRCm38

  159578 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Mammalian
homology
human; cattle; chimpanzee; dog, domestic; rabbit, European    (Mammalian Orthology)
Comparative Map (Mouse/Human Sorl1 ± 2 cM)

Gene Tree: Sorl1

Human
ortholog
SORL1 sortilin-related receptor, L(DLR class) A repeats containing NCBI Gene ID 6653
Human Synonyms: C11orf32, gp250, LR11, LRP9, SORLA, SorLA-1
Human Chr11:121322961-121504471 bp, + strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human SORL1 (1)
Alleles
and
phenotypes
All alleles(17) : Targeted(4) Gene trapped(13)
 
Homozygous mutation of this gene results in decreased femoral artery intimal thickness after cuff placement and abolished angiotensin II stimulated vascular smooth muscle migration and attachment. Two other alleles show an increase in beta-amyloid deposits or peptide in the brain.
 
Human Diseases Modeled Using Mouse Sorl1 (1)    Alleles Annotated to Human Diseases(1)   
Gene Ontology
(GO)
classifications
All GO classifications: (14 annotations)
Process cholesterol metabolic process, endocytosis, ...
Component integral to membrane, low-density lipoprotein particle, ...
Function low-density lipoprotein particle binding, protein binding
External Resources: FuncBase
Expression Literature Summary: (11 records)
Data Summary: Results (226)    Tissues (28)    Images (24)
Theiler Stages: 23, 24, 26
Assay TypeResults
RNA in situ 226
cDNA source data(25)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(29) Genomic(2) cDNA(25) Primer pair(2)
Microarray probesets(6)
Other database
links
VEGA Gene ModelOTTMUSG00000031794 (Evidence)
Ensembl Gene ModelENSMUSG00000049313 (Evidence)
Entrez Gene20660 (Evidence)
DFCITC1601394
DoTSDT.482918, DT.97386360
NIA Mouse Gene IndexU030748
Consensus CDS ProjectCCDS40594.1
International Mouse Knockout Project StatusSorl1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031794 VEGA Gene Model | MGI Sequence Detail 159578 C57BL/6J ±  kb
transcript OTTMUST00000078792 VEGA | MGI Sequence Detail 10715 Not Applicable 
polypeptide OTTMUSP00000041931 VEGA | MGI Sequence Detail 2215 Not Applicable 

For the selected sequences
All sequences(43) RefSeq(2) UniProt(5)
Polymorphisms SNPs(1022 from dbSNP Build 128)
Protein-related
information
ResourceIDDescription
InterPro IPR003961 Fibronectin, type III
InterPro IPR013783 Immunoglobulin-like fold
InterPro IPR000033 LDLR class B repeat
InterPro IPR023415 Low-density lipoprotein (LDL) receptor class A, conserved site
InterPro IPR002172 Low-density lipoprotein (LDL) receptor class A repeat
InterPro IPR011042 Six-bladed beta-propeller, TolB-like
InterPro IPR006581 VPS10
Protein Ontology PR:000015411 sortilin-related receptor
References (Earliest) J:46143 Hermans-Borgmeyer I, et al., Unique expression pattern of a novel mosaic receptor in the developing cerebral cortex. Mech Dev. 1998 Jan;70(1-2):65-76
(Latest) J:193915 Carlo AS, et al., The pro-neurotrophin receptor sortilin is a major neuronal apolipoprotein E receptor for catabolism of amyloid-beta peptide in the brain. J Neurosci. 2013 Jan 2;33(1):358-70
All references(60)
Other
accession IDs
MGI:1920160, MGI:2143102, MGI:2143305

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory