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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
Vertebrate
homology
HomoloGene:2336  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Sorl1

Human
homologs
Human Homolog SORL1, sortilin-related receptor, L(DLR class) A repeats containing
NCBI Gene ID 6653
neXtProt AC  NX_Q92673
Human Synonyms  C11orf32, gp250, LR11, LRP9, SORLA, SorLA-1
Human Chr (Location)  11q23.2-q24.2; chr11:121452203-121633762 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human SORL1
Mutations,
alleles, and
phenotypes
All mutations/alleles(18) : Gene trapped(13) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Alleles Annotated to Human Diseases(1)   
Interactions
Sorl1 interacts with 453 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (48 annotations)
Process cell migration, cholesterol metabolic process, ...
Component early endosome, endoplasmic reticulum, ...
Function ADP-ribosylation factor binding, beta-amyloid binding, ...
External Resources: FuncBase
Expression
Literature Summary: (11 records)
Data Summary: Results (370)    Tissues (152)    Images (73)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 360
Northern blot 10
cDNA source data(26)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(30) Genomic(2) cDNA(26) Primer pair(2)
Microarray probesets(6)
Other database
links
VEGA Gene ModelOTTMUSG00000031794 (Evidence)
Ensembl Gene ModelENSMUSG00000049313 (Evidence)
Entrez Gene20660 (Evidence)
DFCITC1601394
DoTSDT.97386360, DT.482918
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(47) RefSeq(2) UniProt(9)
Polymorphisms
SNPs within 2kb(2417 from dbSNP Build 137)
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:213687 Caglayan S, et al., Lysosomal sorting of amyloid-beta by the SORLA receptor is impaired by a familial Alzheimer's disease mutation. Sci Transl Med. 2014 Feb 12;6(223):223ra20
All references(69)
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
12/16/2014
MGI 5.20
The Jackson Laboratory