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Sorl1 Gene Detail
Summary
  • Symbol
    Sorl1
  • Name
    sortilin-related receptor, LDLR class A repeats-containing
  • Synonyms
    2900010L19Rik, LR11, mSorLA, Sorla
  • Feature Type
    protein coding gene
  • IDs
    MGI:1202296
    NCBI Gene: 20660
  • Alliance
    gene page
  • Transcription Start Sites
    15 TSS
  • Candidate for QTL
    1 QTL
Location &
Maps
more
  • Sequence Map
    Chr9:41876016-42035593 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 23.55 cM, cytoband B
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    5216 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1202296
 protein coding gene Chr9:41876005-42035593 (-)
129S1/SvImJ MGP_129S1SvImJ_G0034675
 protein coding gene Chr9:40284331-40456092 (-)
A/J MGP_AJ_G0034655
 protein coding gene Chr9:39221974-39381455 (-)
AKR/J MGP_AKRJ_G0034581
 protein coding gene Chr9:39973624-40147716 (-)
BALB/cJ MGP_BALBcJ_G0034646
 protein coding gene Chr9:38953412-39112986 (-)
C3H/HeJ MGP_C3HHeJ_G0034357
 protein coding gene Chr9:40485172-40645280 (-)
C57BL/6NJ MGP_C57BL6NJ_G0035169
 protein coding gene Chr9:41552536-41717185 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032082
 protein coding gene Chr9:38833633-38989547 (-)
CAST/EiJ MGP_CASTEiJ_G0033680
 protein coding gene Chr9:40265411-40438759 (-)
CBA/J MGP_CBAJ_G0034330
 protein coding gene Chr9:43018567-43195799 (-)
DBA/2J MGP_DBA2J_G0034489
 protein coding gene Chr9:39143937-39306233 (-)
FVB/NJ MGP_FVBNJ_G0034429
 protein coding gene Chr9:38373539-38532320 (-)
LP/J MGP_LPJ_G0034570
 protein coding gene Chr9:40559572-40725538 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0034473
 protein coding gene Chr9:45006833-45172798 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0035188
 protein coding gene Chr9:39892987-40056321 (-)
PWK/PhJ MGP_PWKPhJ_G0033385
 protein coding gene Chr9:38967750-39129797 (-)
SPRET/EiJ MGP_SPRETEiJ_G0033221
 protein coding gene Chr9:40138074-40306270 (-)
WSB/EiJ MGP_WSBEiJ_G0033793
 protein coding gene Chr9:39926882-40093880 (-)



Homology
more
  • Human Ortholog
    SORL1, sortilin related receptor 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SORL1, sortilin related receptor 1
  • Synonyms
    C11orf32, gp250, LR11, LRP9, SORLA, SorLA-1
  • Links
    NCBI Gene ID: 6653
    neXtProt AC: NX_Q92673
    UniProt: Q92673

  • Chr Location
    11q24.1; chr11:121452314-121633763 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human SORL1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    13 phenotypes from 4 alleles in 5 genetic backgrounds
    5 phenotypes from multigenic genotypes
    38 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    118
  • GO References
    17
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    1245
  • Tissues
    212
  • cDNA Data
    27
  • Literature Summary
    19
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000049313 Ensembl Gene Model | MGI Sequence Detail 159578 C57BL/6J ±  kb
    transcript ENSMUST00000060989 Ensembl | MGI Sequence Detail 10715 Not Applicable  
    polypeptide ENSMUSP00000058613 Ensembl | MGI Sequence Detail 2215 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000015411 sortilin-related receptor
      (term hierarchy)
    • InterPro Domains
      IPR050991 Extracellular Matrix Regulatory Proteins
      IPR003961 Fibronectin type III
      IPR036116 Fibronectin type III superfamily
      IPR013783 Immunoglobulin-like fold
      IPR000033 LDLR class B repeat
      IPR036055 LDL receptor-like superfamily
      IPR023415 Low-density lipoprotein (LDL) receptor class A, conserved site
      IPR002172 Low-density lipoprotein (LDL) receptor class A repeat
      IPR051221 Low-density lipoprotein receptor-related
      IPR011042 Six-bladed beta-propeller, TolB-like
      IPR031777 Sortilin, C-terminal
      IPR031778 Sortilin, N-terminal
      IPR006581 VPS10
      IPR050310 VPS10-related sortilin family receptors
      IPR015943 WD40/YVTN repeat-like-containing domain superfamily
    • GlyGen
      O88307 31 sites, 24 N-linked glycans (19 sites), 1 O-linked glycan (3 sites)
    Molecular
    Reagents
    less
    • All nucleic 34
      Genomic 2
      cDNA 27
      Primer pair 4
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:1920160, MGI:2143102, MGI:2143305
    References
    more
    • Summaries
      All 103
      Developmental Gene Expression 19
      Diseases 1
      Gene Ontology 17
      Phenotypes 38
    • 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:351573 Sasner M, et al., In vivo validation of late-onset Alzheimer's disease genetic risk factors. Alzheimers Dement. 2024 Jul;20(7):4970-4984
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory