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    SORT1 sortilin 1 [ Homo sapiens (human) ]

    Gene ID: 6272, updated on 12-Mar-2017
    Official Symbol
    SORT1provided by HGNC
    Official Full Name
    sortilin 1provided by HGNC
    Primary source
    HGNC:HGNC:11186
    See related
    Ensembl:ENSG00000134243 MIM:602458; Vega:OTTHUMG00000011999
    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]
    Orthologs
    Location:
    1p13.3; 1p21.3-p13.1
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (109309565..109397945, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (109852187..109940563, 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 subunit alpha 5 Neighboring gene synaptophysin like 2

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Low density lipoprotein cholesterol level quantitative trait locus 6
    MedGen: C3150834 OMIM: 613589 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.
    NHGRI GWA Catalog
    Biological, clinical and population relevance of 95 loci for blood lipids.
    NHGRI GWA Catalog
    Common variants at 30 loci contribute to polygenic dyslipidemia.
    NHGRI GWA Catalog
    Discovery and refinement of loci associated with lipid levels.
    NHGRI GWA Catalog
    Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
    NHGRI GWA Catalog
    Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.
    NHGRI GWA Catalog
    Genome-wide association of lipid-lowering response to statins in combined study populations.
    NHGRI GWA Catalog
    Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.
    NHGRI GWA Catalog
    Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
    NHGRI GWA Catalog
    Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma.
    NHGRI GWA Catalog
    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.
    NHGRI GWA Catalog
    Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
    NHGRI GWA Catalog
    Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
    NHGRI GWA Catalog
    New loci associated with kidney function and chronic kidney disease.
    NHGRI GWA Catalog
    Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
    NHGRI GWA Catalog
    Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
    NHGRI GWA Catalog
    Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
    NHGRI GWA Catalog
    • Brain-Derived Neurotrophic Factor (BDNF) signaling pathway, organism-specific biosystem (from WikiPathways)
      Brain-Derived Neurotrophic Factor (BDNF) signaling pathway, organism-specific biosystemBrain-derived neurotrophic factor (BDNF) is a neurotrophin essential for growth, differentiation, plasticity, and survival of neurons. BDNF is also required for processes such as energy metabolism, b...
    • Clathrin derived vesicle budding, organism-specific biosystem (from REACTOME)
      Clathrin derived vesicle budding, organism-specific biosystemThere at least two classes of clathrin coated vesicles in cells, one predominantly Golgi-associated, involved in budding from the trans-Golgi network and the other at the plasma membrane. Here the cl...
    • Golgi Associated Vesicle Biogenesis, organism-specific biosystem (from REACTOME)
      Golgi Associated Vesicle Biogenesis, organism-specific biosystemProteins that have been synthesized, processed and sorted eventually reach the final steps of the secretory pathway. This pathway is responsible not only for proteins that are secreted from the cell ...
    • Lysosome, organism-specific biosystem (from KEGG)
      Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Lysosome, conserved biosystem (from KEGG)
      Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • Neurotrophin signaling pathway, organism-specific biosystem (from KEGG)
      Neurotrophin signaling pathway, organism-specific biosystemNeurotrophins are a family of trophic factors involved in differentiation and survival of neural cells. The neurotrophin family consists of nerve growth factor (NGF), brain derived neurotrophic facto...
    • Neurotrophin signaling pathway, conserved biosystem (from KEGG)
      Neurotrophin signaling pathway, conserved biosystemNeurotrophins are a family of trophic factors involved in differentiation and survival of neural cells. The neurotrophin family consists of nerve growth factor (NGF), brain derived neurotrophic facto...
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    • p75(NTR)-mediated signaling, organism-specific biosystem (from Pathway Interaction Database)
      p75(NTR)-mediated signaling, organism-specific biosystem
      p75(NTR)-mediated signaling
    • trans-Golgi Network Vesicle Budding, organism-specific biosystem (from REACTOME)
      trans-Golgi Network Vesicle Budding, organism-specific biosystemAfter passing through the Golgi complex, secretory cargo is packaged into post-Golgi transport intermediates (post-Golgi), which translocate plus-end directed along microtubules to the plasma membran...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    nerve growth factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    nerve growth factor receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neurotensin receptor activity, non-G-protein coupled IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    G-protein coupled receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Golgi to endosome transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endocytosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endosome to lysosome transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endosome transport via multivesicular body sorting pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extrinsic apoptotic signaling pathway via death domain receptors IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glucose import IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    myotube differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of fat cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of lipoprotein lipase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nerve growth factor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    neuropeptide signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neurotrophin TRK receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ossification IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane to endosome transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of epithelial cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to insulin IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    vesicle organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Golgi cisterna membrane IEA
    Inferred from Electronic Annotation
    more info
     
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    clathrin-coated pit IDA
    Inferred from Direct Assay
    more info
    PubMed 
    clathrin-coated vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
     
    neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear membrane IEA
    Inferred from Electronic Annotation
    more info
     
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    trans-Golgi network transport vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    sortilin
    Names
    100 kDa NT receptor
    glycoprotein 95
    neurotensin receptor 3

    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
      4997..93377
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001205228.1NP_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)
      AA782785, AK301548, AL390252, BC023542, DA023768, DB045034
      Consensus CDS
      CCDS55618.1
      UniProtKB/Swiss-Prot
      Q99523
      Related
      ENSP00000438597, ENST00000538502
      Conserved Domains (2) summary
      smart00602
      Location:1604
      VPS10; VPS10 domain
      pfam15901
      Location:437604
      Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal
    2. NM_002959.6NP_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)
      AA782785, AL390252, BC023542, DA023768, DB045034, HY003953
      Consensus CDS
      CCDS798.1
      UniProtKB/Swiss-Prot
      Q99523
      Related
      ENSP00000256637, OTTHUMP00000013784, ENST00000256637, OTTHUMT00000033179
      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 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_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      109309565..109397945 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_006710812.1XP_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_005271101.2XP_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_005271102.1XP_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

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      109967032..110055404 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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