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SORL1 sortilin-related receptor, L(DLR class) A repeats containing [ Homo sapiens (human) ]

Gene ID: 6653, updated on 26-May-2016
Official Symbol
SORL1provided by HGNC
Official Full Name
sortilin-related receptor, L(DLR class) A repeats containingprovided by HGNC
Primary source
HGNC:HGNC:11185
See related
Ensembl:ENSG00000137642 HPRD:03595; MIM:602005; Vega:OTTHUMG00000166057
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]
Orthologs
Location:
11q23.2-q24.2
Exon count:
51
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (121452203..121633762)
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 uncharacterized LOC105369537 Neighboring gene mir-100-let-7a-2 cluster host gene Neighboring gene microRNA 125b-1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Alzheimer's disease
MedGen: C0002395 OMIM: 104300 GeneReviews: Alzheimer Disease Overview
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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
Products Interactant Other Gene Complex Source Pubs Description

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 
beta-amyloid binding IDA
Inferred from Direct Assay
more info
PubMed 
beta-amyloid binding IPI
Inferred from Physical Interaction
more info
PubMed 
low-density lipoprotein particle binding IPI
Inferred from Physical Interaction
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
cholesterol metabolic process IEA
Inferred from Electronic Annotation
more info
 
lipid transport IEA
Inferred from Electronic Annotation
more info
 
negative regulation of MAP kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
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 beta-amyloid formation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of beta-amyloid formation 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
 
positive regulation of ER to Golgi vesicle-mediated transport IMP
Inferred from Mutant Phenotype
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 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 IDA
Inferred from Direct Assay
more info
PubMed 
protein maturation IDA
Inferred from Direct Assay
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 Golgi IDA
Inferred from Direct Assay
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 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi cisterna IDA
Inferred from Direct Assay
more info
PubMed 
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 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
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 
nuclear envelope lumen 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 
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
sorting protein-related receptor containing LDLR class A repeats

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_003105.5NP_003096.1  sortilin-related receptor preproprotein

    See identical proteins and their annotated locations for NP_003096.1

    Status: REVIEWED

    Source sequence(s)
    AI358248, AP000664, AP000977, BC040643, BC137171, BX365721, Y08110
    Consensus CDS
    CCDS8436.1
    UniProtKB/Swiss-Prot
    Q92673
    UniProtKB/TrEMBL
    A0A024R3H2
    Related
    ENSP00000260197, OTTHUMP00000231797, ENST00000260197, OTTHUMT00000387626
    Conserved Domains (5) summary
    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 ...
    pfam00058
    Location:890929
    Ldl_recept_b; Low-density lipoprotein receptor repeat class B

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

    Range
    121452203..121633762
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542963.1XP_011541265.1  

    Conserved Domains (5) summary
    smart00135
    Location:824866
    LY; Low-density lipoprotein-receptor YWTD domain
    smart00602
    Location:124753
    VPS10; VPS10 domain
    cd00063
    Location:16131704
    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:13351365
    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 ...
    pfam00058
    Location:890929
    Ldl_recept_b; Low-density lipoprotein receptor repeat class B
  2. XM_011542964.1XP_011541266.1  

    Conserved Domains (5) summary
    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 ...
    pfam00058
    Location:890929
    Ldl_recept_b; Low-density lipoprotein receptor repeat class B
  3. XM_011542965.1XP_011541267.1  

    Conserved Domains (4) summary
    smart00135
    Location:311353
    LY; Low-density lipoprotein-receptor YWTD domain
    cd00063
    Location:11381229
    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:860890
    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 ...
    pfam00058
    Location:377416
    Ldl_recept_b; Low-density lipoprotein receptor repeat class B
  4. XM_011542966.1XP_011541268.1  

    Conserved Domains (4) summary
    smart00135
    Location:3373
    LY; Low-density lipoprotein-receptor YWTD domain
    cd00063
    Location:771862
    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:493523
    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 ...
    pfam00058
    Location:1049
    Ldl_recept_b; Low-density lipoprotein receptor repeat class B
  5. XM_011542967.1XP_011541269.1  

    UniProtKB/TrEMBL
    E9PPB3
    Related
    ENSP00000434634, OTTHUMP00000231798, ENST00000525532, OTTHUMT00000387630
    Conserved Domains (2) summary
    cd00063
    Location:595686
    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:317347
    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 ...

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    121210607..121392157
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)