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SORL1 sortilin related receptor 1 [ Homo sapiens (human) ]

Gene ID: 6653, updated on 11-Sep-2019

Summary

Official Symbol
SORL1provided by HGNC
Official Full Name
sortilin related receptor 1provided by HGNC
Primary source
HGNC:HGNC:11185
See related
Ensembl:ENSG00000137642 MIM:602005
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LR11; LRP9; SORLA; gp250; SorLA-1; C11orf32
Summary
This gene encodes a mosaic protein that belongs to at least two families: the vacuolar protein sorting 10 (VPS10) domain-containing receptor family, and the low density lipoprotein receptor (LDLR) family. The encoded protein also contains fibronectin type III repeats and an epidermal growth factor repeat. The encoded preproprotein is proteolytically processed to generate the mature receptor, which likely plays roles in endocytosis and sorting. Mutations in this gene may be associated with Alzheimer's disease. [provided by RefSeq, Feb 2016]
Annotation information
Note: In some of the published literature, this gene has been incorrectly associated with the LRP9 alias, but the LRP9 alias more correctly refers to Gene ID 26020, LRP10. [05 May 2010]
Expression
Ubiquitous expression in brain (RPKM 22.4), liver (RPKM 16.3) and 21 other tissues See more
Orthologs

Genomic context

See SORL1 in Genome Data Viewer
Location:
11q24.1
Exon count:
48
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (121452314..121633763)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (121322912..121504471)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene sterol-C5-desaturase Neighboring gene bone morphogenetic protein receptor type 1A pseudogene 2 Neighboring gene uncharacterized LOC105369536 Neighboring gene uncharacterized LOC105369535 Neighboring gene SORL1 eExon liver enhancer Neighboring gene Sharpr-MPRA regulatory region 11087 Neighboring gene uncharacterized LOC107984402

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.
NHGRI GWA Catalog
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
NHGRI GWA Catalog
SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians.
NHGRI GWA Catalog

Pathways from BioSystems

  • Amyloid fiber formation, organism-specific biosystem (from REACTOME)
    Amyloid fiber formation, organism-specific biosystemAmyloid is a term used to describe deposits of fibrillar proteins, typically extracellular. The abnormal accumulation of amyloid, amyloidosis, is a term associated with tissue damage caused by amyloi...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21930, FLJ39258

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ADP-ribosylation factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
amyloid-beta binding IDA
Inferred from Direct Assay
more info
PubMed 
amyloid-beta binding IPI
Inferred from Physical Interaction
more info
PubMed 
low-density lipoprotein particle binding IPI
Inferred from Physical Interaction
more info
PubMed 
low-density lipoprotein particle receptor activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transmembrane signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
adaptive thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
cholesterol metabolic process IEA
Inferred from Electronic Annotation
more info
 
diet induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
insulin receptor recycling IDA
Inferred from Direct Assay
more info
PubMed 
lipid transport IEA
Inferred from Electronic Annotation
more info
 
negative regulation of BMP signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of MAP kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of amyloid-beta formation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of amyloid-beta formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of neurofibrillary tangle assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of neurogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of neuron death ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of protein binding IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of protein oligomerization IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of tau-protein kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of triglyceride catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of ER to Golgi vesicle-mediated transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of adipose tissue development IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of choline O-acetyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of early endosome to recycling endosome transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of endocytic recycling IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of insulin receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein exit from endoplasmic reticulum IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein localization to early endosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
post-Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
post-Golgi vesicle-mediated transport IDA
Inferred from Direct Assay
more info
PubMed 
protein localization to Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
protein maturation IDA
Inferred from Direct Assay
more info
PubMed 
protein retention in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein retention in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
protein targeting IDA
Inferred from Direct Assay
more info
PubMed 
protein targeting IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein targeting to lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein targeting to lysosome IDA
Inferred from Direct Assay
more info
PubMed 
receptor-mediated endocytosis TAS
Traceable Author Statement
more info
PubMed 
regulation of smooth muscle cell migration IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi cisterna IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane TAS
Traceable Author Statement
more info
 
early endosome IDA
Inferred from Direct Assay
more info
PubMed 
early endosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endosome IDA
Inferred from Direct Assay
more info
PubMed 
endosome membrane TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
low-density lipoprotein particle IEA
Inferred from Electronic Annotation
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
multivesicular body IDA
Inferred from Direct Assay
more info
PubMed 
nuclear envelope lumen IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
recycling endosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
trans-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
sortilin-related receptor
Names
LDLR relative with 11 ligand-binding repeats
low-density lipoprotein receptor relative with 11 ligand-binding repeats
mosaic protein LR11
sortilin-related receptor, L(DLR class) A repeats containing
sorting protein-related receptor containing LDLR class A repeats

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023313.1 RefSeqGene

    Range
    4952..186511
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003105.6NP_003096.2  sortilin-related receptor preproprotein

    Status: REVIEWED

    Source sequence(s)
    AP000664, AP000977, KF459541
    Consensus CDS
    CCDS8436.1
    Related
    ENSP00000260197.6, ENST00000260197.12
    Conserved Domains (8) summary
    smart00192
    Location:11981230
    LDLa; Low-density lipoprotein receptor domain class A
    smart00060
    Location:17491829
    FN3; Fibronectin type 3 domain
    smart00135
    Location:824866
    LY; Low-density lipoprotein-receptor YWTD domain
    smart00602
    Location:124753
    VPS10; VPS10 domain
    cd00063
    Location:16511742
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    cd00112
    Location:13731403
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    pfam00057
    Location:11571192
    Ldl_recept_a; Low-density lipoprotein receptor domain class A
    pfam00058
    Location:890929
    Ldl_recept_b; Low-density lipoprotein receptor repeat class B

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    121452314..121633763
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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