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

    Gene ID: 6653, updated on 27-Nov-2024

    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; AllianceGenome:HGNC:11185
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SORL1 in Genome Data Viewer
    Location:
    11q24.1
    Exon count:
    48
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (121452314..121633763)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (121478500..121660113)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (121323023..121504472)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4000 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:121165985-121166526 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:121166527-121167069 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4001 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5643 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5644 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5645 Neighboring gene sterol-C5-desaturase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5646 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:121243330-121244107 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:121260007-121260508 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:121260509-121261008 Neighboring gene bone morphogenetic protein receptor type 1A pseudogene 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:121276805-121277684 Neighboring gene NANOG hESC enhancer GRCh37_chr11:121277972-121278473 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:121297351-121297863 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4002 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5647 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5648 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5649 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5650 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5651 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4003 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4005 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5655 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5654 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5653 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5652 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:121336477-121337676 Neighboring gene SORL1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5657 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5658 Neighboring gene uncharacterized LOC105369535 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5659 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:121368848-121369348 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:121421721-121422920 Neighboring gene SORL1 eExon liver enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5660 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5661 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:121441453-121441954 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:121441955-121442454 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5662 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:121465964-121467163 Neighboring gene Sharpr-MPRA regulatory region 6864 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:121507637-121508302 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:121508303-121508966 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:121514837-121515520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5663 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:121543162-121543662 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:121559556-121560755 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5664 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:121673071-121673918 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:121694789-121695360 Neighboring gene uncharacterized LOC107984402 Neighboring gene VISTA enhancer hs872 Neighboring gene RNA, U6 small nuclear 256, pseudogene

    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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ21930, FLJ39258

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in adaptive thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in diet induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in endosome to plasma membrane protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in insulin receptor recycling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of BMP signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of amyloid precursor protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of amyloid precursor protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of amyloid-beta formation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of amyloid-beta formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of neurofibrillary tangle assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of neurogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of protein-containing complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of triglyceride catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuropeptide signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of ER to Golgi vesicle-mediated transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of adipose tissue development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of early endosome to recycling endosome transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of endocytic recycling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of glial cell-derived neurotrophic factor production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of insulin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein exit from endoplasmic reticulum IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein localization to early endosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in post-Golgi vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in post-Golgi vesicle-mediated transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein localization to Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein maturation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein retention in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein retention in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein targeting IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein targeting IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein targeting to lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein targeting to lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in receptor-mediated endocytosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of smooth muscle cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi cisterna IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in early endosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome membrane TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in multivesicular body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in multivesicular body membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear envelope lumen IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perinucleolar compartment IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in recycling endosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in recycling endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in transport vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     

    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)

    NEW Try the new Transcript table

    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_023313.2 RefSeqGene

      Range
      5002..186451
      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
      UniProtKB/Swiss-Prot
      B2RNX7, Q92673, Q92856
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      121478500..121660113
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)