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

    Gene ID: 6653, updated on 6-Dec-2016
    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; 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:
    11q24.1
    Exon count:
    53
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 LOC107984402 Neighboring gene RNA, U6 small nuclear 256, pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Alzheimer's disease
    MedGen: C0002395 OMIM: 104300 GeneReviews: Alzheimer Disease Overview
    Compare labs

    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
    • 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.
    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
    sortilin-related receptor, L(DLR class) A repeats containing
    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 (9) 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
      pfam15901
      Location:588753
      Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011542963.2XP_011541265.1  

      Conserved Domains (9) summary
      smart00192
      Location:11601192
      LDLa; Low-density lipoprotein receptor domain class A
      smart00060
      Location:17111791
      FN3; Fibronectin type 3 domain
      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 ...
      pfam00057
      Location:11191154
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam00058
      Location:890929
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B
      pfam15901
      Location:588753
      Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal
    2. XM_017018171.1XP_016873660.1  

      Conserved Domains (8) summary
      smart00192
      Location:11981230
      LDLa; Low-density lipoprotein receptor domain class A
      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
      pfam15901
      Location:588753
      Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal
    3. XM_017018169.1XP_016873658.1  

    4. XM_017018170.1XP_016873659.1  

    5. XM_011542965.2XP_011541267.1  

      Conserved Domains (8) summary
      smart00192
      Location:685717
      LDLa; Low-density lipoprotein receptor domain class A
      smart00060
      Location:12361316
      FN3; Fibronectin type 3 domain
      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 ...
      pfam00057
      Location:644679
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam00058
      Location:377416
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B
      pfam15901
      Location:75240
      Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal
    6. XM_017018172.1XP_016873661.1  

      Conserved Domains (7) summary
      smart00192
      Location:318350
      LDLa; Low-density lipoprotein receptor domain class A
      smart00060
      Location:869949
      FN3; Fibronectin type 3 domain
      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 ...
      pfam00057
      Location:277312
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam00058
      Location:1049
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B
    7. XM_011542967.2XP_011541269.1  

      UniProtKB/TrEMBL
      E9PPB3
      Related
      ENSP00000434634, OTTHUMP00000231798, ENST00000525532, OTTHUMT00000387630
      Conserved Domains (5) summary
      smart00192
      Location:142174
      LDLa; Low-density lipoprotein receptor domain class A
      smart00060
      Location:693773
      FN3; Fibronectin type 3 domain
      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 ...
      pfam00057
      Location:101136
      Ldl_recept_a; Low-density lipoprotein receptor domain class A

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

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