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    SORT1 sortilin 1 [ Homo sapiens (human) ]

    Gene ID: 6272, updated on 25-Nov-2021

    Summary

    Official Symbol
    SORT1provided by HGNC
    Official Full Name
    sortilin 1provided by HGNC
    Primary source
    HGNC:HGNC:11186
    See related
    Ensembl:ENSG00000134243 MIM:602458
    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
    NT3; Gp95; NTR3; LDLCQ6
    Summary
    This gene encodes a member of the VPS10-related sortilin family of proteins. The encoded preproprotein is proteolytically processed by furin to generate the mature receptor. This receptor plays a role in the trafficking of different proteins to either the cell surface, or subcellular compartments such as lysosomes and endosomes. Expression levels of this gene may influence the risk of myocardial infarction in human patients. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
    Expression
    Broad expression in brain (RPKM 47.1), testis (RPKM 30.3) and 22 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SORT1 in Genome Data Viewer
    Location:
    1p13.3; 1p21.3-p13.1
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (109309575..109397940, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (109852197..109940540, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene proline and serine rich coiled-coil 1 Neighboring gene myosin binding protein H like Neighboring gene proteasome 20S subunit alpha 5 Neighboring gene synaptophysin like 2

    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

    Associated conditions

    Description Tests
    A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.
    GeneReviews: Not available
    Biological, clinical and population relevance of 95 loci for blood lipids.
    GeneReviews: Not available
    Common variants at 30 loci contribute to polygenic dyslipidemia.
    GeneReviews: Not available
    Discovery and refinement of loci associated with lipid levels.
    GeneReviews: Not available
    Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
    GeneReviews: Not available
    Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.
    GeneReviews: Not available
    Genome-wide association of lipid-lowering response to statins in combined study populations.
    GeneReviews: Not available
    Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.
    GeneReviews: Not available
    Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
    GeneReviews: Not available
    Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma.
    GeneReviews: Not available
    Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies.
    GeneReviews: Not available
    Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
    GeneReviews: Not available
    Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
    GeneReviews: Not available
    Low density lipoprotein cholesterol level quantitative trait locus 6
    MedGen: C3150834 OMIM: 613589 GeneReviews: Not available
    Compare labs
    New loci associated with kidney function and chronic kidney disease.
    GeneReviews: Not available
    Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
    GeneReviews: Not available
    Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
    GeneReviews: Not available
    Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
    GeneReviews: Not available

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with SORT1; predicted interaction to be within the endoplasmic reticulum to Golgi transport PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables nerve growth factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables nerve growth factor receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables neurotensin receptor activity, non-G protein-coupled IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables retromer complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in Golgi to endosome transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in Golgi to endosome transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in Golgi to lysosome transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in endocytosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in endosome to lysosome transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in endosome transport via multivesicular body sorting pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in extrinsic apoptotic signaling pathway via death domain receptors IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in glucose import IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in myotube differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of fat cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of lipoprotein lipase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in nerve growth factor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuropeptide signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neurotrophin TRK receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ossification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in plasma membrane to endosome transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in post-Golgi vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein targeting to lysosome IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to insulin IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in vesicle organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in vesicle organization 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
    PubMed 
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi cisterna membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in clathrin-coated pit IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in clathrin-coated vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in integral component of membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in integral component of membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in trans-Golgi network transport vesicle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    sortilin
    Names
    100 kDa NT receptor
    glycoprotein 95
    neurotensin receptor 3

    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_028280.1 RefSeqGene

      Range
      5024..93367
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001205228.2NP_001192157.1  sortilin isoform 2

      See identical proteins and their annotated locations for NP_001192157.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence and uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1.The resulting isoform (2) is shorter at the N-terminus and lacks an internal aa compared to isoform 1.
      Source sequence(s)
      AK301548, AL390252, BC023542, DA023768, DB045034
      Consensus CDS
      CCDS55618.1
      UniProtKB/Swiss-Prot
      Q99523
      Related
      ENSP00000438597.1, ENST00000538502.5
      Conserved Domains (2) summary
      smart00602
      Location:1604
      VPS10; VPS10 domain
      pfam15901
      Location:437604
      Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal
    2. NM_002959.7NP_002950.3  sortilin isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_002950.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL390252, BC023542, DA023768, DB045034
      Consensus CDS
      CCDS798.1
      UniProtKB/Swiss-Prot
      Q99523
      Related
      ENSP00000256637.6, ENST00000256637.8
      Conserved Domains (2) summary
      smart00602
      Location:133741
      VPS10; VPS10 domain
      pfam15901
      Location:574741
      Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      109309575..109397940 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005271100.2XP_005271157.1  sortilin isoform X1

      Conserved Domains (2) summary
      smart00602
      Location:133740
      VPS10; VPS10 domain
      pfam15901
      Location:573740
      Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal
    2. XM_006710812.2XP_006710875.1  sortilin isoform X2

      See identical proteins and their annotated locations for XP_006710875.1

      Conserved Domains (2) summary
      smart00602
      Location:1605
      VPS10; VPS10 domain
      pfam15901
      Location:438605
      Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal
    3. XM_005271101.3XP_005271158.1  sortilin isoform X2

      See identical proteins and their annotated locations for XP_005271158.1

      Conserved Domains (2) summary
      smart00602
      Location:1605
      VPS10; VPS10 domain
      pfam15901
      Location:438605
      Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal
    4. XM_005271102.2XP_005271159.1  sortilin isoform X2

      See identical proteins and their annotated locations for XP_005271159.1

      Conserved Domains (2) summary
      smart00602
      Location:1605
      VPS10; VPS10 domain
      pfam15901
      Location:438605
      Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal
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