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SORT1 Gene

protein-coding   GIFtS: 66
GCID: GC01M109852

Sortilin 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Sortilin 11 2     Gp952 3
NT32 3 5     NTR32 3
Glycoprotein 952 3     LDLCQ62 5
Neurotensin Receptor 32 3     sortilin2
100 KDa NT Receptor2 3     

External Ids:    HGNC: 111861   Entrez Gene: 62722   Ensembl: ENSG000001342437   OMIM: 6024585   UniProtKB: Q995233   

Export aliases for SORT1 gene to outside databases

Previous GC identifers: GC01M110335 GC01M108785 GC01M108957 GC01M109155 GC01M109568 GC01M109653 GC01M107745


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SORT1 Gene:
This gene encodes a protein that is a multi-ligand type-1 receptor with similarity to the yeast carboxypeptidase Y
sorting receptor Vps10 protein. The encoded protein, a trans-Golgi network (TGN) transmembrane protein, binds a
number of unrelated ligands that participate in a wide range of cellular processes; however, it lacks the typical
features of a signalling receptor. In the TGN, furin mediates the activation of the mature binding form. The
encoded protein consists of a large luminal domain, a single transmembrane segment and short C-terminal
cytoplasmic tail. The luminal domain contains a cysteine-rich region similar to two corresponding segments in the
yeast Vps10p; the cytoplasmic tail is similar to the corresponding segment of the cation-independent mannose
6-phosphate receptor and the tail also interacts with the VHS domains of GGA (Golgi-associated, gamma-adaptin
homologous, ARF-interacting) proteins. (provided by RefSeq, Jul 2008)

GeneCards Summary for SORT1 Gene:
SORT1 (sortilin 1) is a protein-coding gene. Diseases associated with SORT1 include geniculate ganglionitis, and cerebral artery occlusion. GO annotations related to this gene include nerve growth factor receptor activity and enzyme binding. An important paralog of this gene is SORCS3.

UniProtKB/Swiss-Prot: SORT_HUMAN, Q99523
Function: Functions as a sorting receptor in the Golgi compartment and as a clearance receptor on the cell
surface. Required for protein transport from the Golgi apparatus to the lysosomes by a pathway that is
independent of the mannose-6-phosphate receptor (M6PR). Also required for protein transport from the Golgi
apparatus to the endosomes. Promotes neuronal apoptosis by mediating endocytosis of the proapoptotic precursor
forms of BDNF (proBDNF) and NGFB (proNGFB). Also acts as a receptor for neurotensin. May promote mineralization
of the extracellular matrix during osteogenic differentiation by scavenging extracellular LPL. Probably required
in adipocytes for the formation of specialized storage vesicles containing the glucose transporter SLC2A4/GLUT4
(GLUT4 storage vesicles, or GSVs). These vesicles provide a stable pool of SLC2A4 and confer increased
responsiveness to insulin. May also mediate transport from the endoplasmic reticulum to the Golgi

Gene Wiki entry for SORT1 (Sortilin 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SORT1 gene promoter:
         TBP   Pbx1a   Nkx2-5   AREB6   MEF-2A   TFIID   aMEF-2   NF-E2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SORT1 promoter sequence
   Search Chromatin IP Primers for SORT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SORT1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p13.3|1p21.3-p13.1   Ensembl cytogenetic band:  1p13.3   HGNC cytogenetic band: 1p13.3

SORT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SORT1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M109852:  view genomic region     (about GC identifiers)

Start:
109,852,187 bp from pter      End:
109,940,573 bp from pter
Size:
88,387 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SORT_HUMAN, Q99523 (See protein sequence)
Recommended Name: Sortilin precursor  
Size: 831 amino acids; 92068 Da
Subunit: Interacts with LPL and SLC2A4 (By similarity). Interacts with the cytosolic adapter proteins GGA1 and
GGA2. Interacts with numerous ligands including the receptor-associated protein LRPAP1/RAP, GM2A, NTS and PSAP.
Forms a complex with NGFR which binds specifically to the precursor forms of NGFB (proNGFB) and BDNF (proBDNF).
Interacts with the Trk receptors NTRK1, NTRK2 and NTRK3; may regulate their anterograde axonal transport and
signaling
4 PDB 3D structures from and Proteopedia for SORT1:
3F6K (3D)        3G2U (3D)        3G2V (3D)        4N7E (3D)    
Secondary accessions: B4DWI3 C0JYZ0 Q8IZ49
Alternative splicing: 2 isoforms:  Q99523-1   Q99523-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SORT1: NX_Q99523

Explore proteomics data for SORT1 at MOPED

Post-translational modifications: 

  • The N-terminal propeptide is cleaved by furin and possibly other homologous proteases1
  • Glycosylation2 at Asn98, Asn162, Asn163, Asn274, Asn406, Asn582, Asn684
  • Modification sites at PhosphoSitePlus

  • See SORT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001192157.1  NP_002950.3  

    ENSEMBL proteins: 
     ENSP00000256637   ENSP00000438597  
    Reactome Protein details: Q99523

    SORT1 Human Recombinant Protein Products:

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    R&D Systems Recombinant & Natural Proteins for SORT1 (Sortilin)
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    Browse OriGene Protein Over-expression Lysates
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    Novus Biologicals SORT1 Protein
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for SORT1

    SORT1 Antibody Products:

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    Abcam antibodies for SORT1
    Cloud-Clone Corp. Antibodies for SORT1
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    LSBio Antibodies in human, mouse, rat for SORT1

    SORT1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for SORT1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SORT1
    Cloud-Clone Corp. CLIAs for SORT1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR006581 VPS10
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q99523

    ProtoNet protein and cluster: Q99523

    1 Blocks protein domain: IPB006581 VPS10

    UniProtKB/Swiss-Prot: SORT_HUMAN, Q99523
    Domain: The N-terminal propeptide may facilitate precursor transport within the Golgi stack. Intrachain binding of
    the N-terminal propeptide and the extracellular domain may also inhibit premature ligand binding
    Domain: The extracellular domain may be shed following protease cleavage in some cell types
    Similarity: Belongs to the VPS10-related sortilin family. SORT1 subfamily
    Similarity: Contains 9 BNR repeats


    SORT1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SORT_HUMAN, Q99523
    Function: Functions as a sorting receptor in the Golgi compartment and as a clearance receptor on the cell
    surface. Required for protein transport from the Golgi apparatus to the lysosomes by a pathway that is
    independent of the mannose-6-phosphate receptor (M6PR). Also required for protein transport from the Golgi
    apparatus to the endosomes. Promotes neuronal apoptosis by mediating endocytosis of the proapoptotic precursor
    forms of BDNF (proBDNF) and NGFB (proNGFB). Also acts as a receptor for neurotensin. May promote mineralization
    of the extracellular matrix during osteogenic differentiation by scavenging extracellular LPL. Probably required
    in adipocytes for the formation of specialized storage vesicles containing the glucose transporter SLC2A4/GLUT4
    (GLUT4 storage vesicles, or GSVs). These vesicles provide a stable pool of SLC2A4 and confer increased
    responsiveness to insulin. May also mediate transport from the endoplasmic reticulum to the Golgi
    Induction: During osteoblast differentiation

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10085125
    GO:0010465nerve growth factor receptor activity IDA14985763
    GO:0019899enzyme binding IPI10085125
    GO:0030379neurotensin receptor activity, non-G-protein coupled IDA9756851
    GO:0048406nerve growth factor binding IPI14985763
         
    SORT1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for SORT1:
     Decreased G3BP1 protein expres  Increased gamma-H2AX phosphory  Increased viability after born 

         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sort1):
     cardiovascular system  cellular  homeostasis/metabolism  immune system  mortality/aging 
     muscle  nervous system  vision/eye 

    SORT1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SORT1: Sort1tm1Camo Sort1tm1Tew

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SORT1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SORT1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SORT1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SORT1

    miRNA
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    miRTarBase miRNAs that target SORT1:
    hsa-mir-125b-5p (MIRT045915), hsa-mir-222-3p (MIRT046808), hsa-mir-34a-5p (MIRT025550)

    Block miRNA regulation of human, mouse, rat SORT1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SORT1 (see all 87):
    hsa-miR-1224-3p hsa-miR-146a hsa-miR-15a hsa-miR-1260b hsa-miR-3653 hsa-miR-1273d hsa-miR-149 hsa-miR-200b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for SORT1
    Predesigned siRNA for gene silencing in human, mouse, rat SORT1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for SORT1

    Clone
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    OriGene clones in human, mouse for SORT1 (see all 6)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SORT1 (NM_002959)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SORT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SORT1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SORT1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SORT_HUMAN, Q99523: Membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-pass
    type I membrane protein (Potential). Endosome membrane; Single-pass type I membrane protein (Potential). Golgi
    apparatus, Golgi stack membrane; Single-pass type I membrane protein (Potential). Nucleus membrane; Single-pass
    type I membrane protein (Potential). Cell membrane; Single-pass type I membrane protein; Extracellular side.
    Lysosome membrane; Single-pass type I membrane protein (Potential). Note=Localized to membranes of the
    endoplasmic reticulum, endosomes, Golgi stack, lysosomes and nucleus. A small fraction of the protein is also
    localized to the plasma membrane. May also be found in SLC2A4/GLUT4 storage vesicles (GSVs) in adipocytes.
    Localization to the plasma membrane in adipocytes may be enhanced by insulin
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    endosome5
    golgi apparatus5
    lysosome5
    nucleus5
    plasma membrane5
    vacuole5
    cytosol4
    extracellular2
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005765lysosomal membrane IEA--
    GO:0005768endosome ----
    GO:0005769early endosome IDA11331584
    GO:0005789endoplasmic reticulum membrane IEA--

    SORT1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SORT1 About    
    See pathways by source

    SuperPathContained pathways About
    1Development HGF signaling pathway
    Development Neurotrophin family signaling0.45
    Neurotrophin signaling pathway0.36
    2Clathrin derived vesicle budding
    Clathrin derived vesicle budding0.89
    trans-Golgi Network Vesicle Budding0.89
    Golgi Associated Vesicle Biogenesis0.89
    Membrane Trafficking0.32
    3p75(NTR)-mediated signaling
    p75(NTR)-mediated signaling
    4Lysosome
    Lysosome
    5BDNF signaling pathway
    BDNF signaling pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for SORT1
        Development Neurotrophin family signaling

    2 BioSystems Pathways for SORT1
        BDNF signaling pathway
    p75(NTR)-mediated signaling

    1 Reactome Pathway for SORT1
        Golgi Associated Vesicle Biogenesis


    2 Kegg Pathways  (Kegg details for SORT1):
        Lysosome
    Neurotrophin signaling pathway


    SORT1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including SORT1: 
              Obesity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SORT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SORT1 (Q995231, 2, 3 ENSP000002566374) via UniProtKB, MINT, STRING, and/or I2D (see all 45)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GGA1Q9UJY51, 2, 3, ENSP000003413444EBI-1057058,EBI-447141 MINT-17263 MINT-17262 I2D: score=5 STRING: ENSP00000341344
    GGA2Q9UJY42, 3, ENSP000003119624MINT-15490 MINT-18373 MINT-15491 MINT-18374 I2D: score=3 STRING: ENSP00000311962
    NGFRP081383, ENSP000001722294I2D: score=3 STRING: ENSP00000172229
    CDK2P249413, ENSP000002669704I2D: score=2 STRING: ENSP00000266970
    BDNFP235603, ENSP000004143034I2D: score=1 STRING: ENSP00000414303
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001503ossification IEA--
    GO:0006895Golgi to endosome transport IDA11331584
    GO:0006897endocytosis IDA11331584
    GO:0007186G-protein coupled receptor signaling pathway IMP18258592
    GO:0007218neuropeptide signaling pathway IDA9756851

    SORT1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SORT1 (SORT)

    1 HMDB Compound for SORT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Mannose 6-phosphateD-Mannose 6-phosphate (see all 10)3672-15-9--

    2 Novoseek inferred chemical compound relationships for SORT1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 19.2 1 11698603 (1)
    glutamate 0 2 17561837 (2)



    SORT1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SORT1 gene (2 alternative transcripts): 
    NM_001205228.1  NM_002959.5  

    Unigene Cluster for SORT1:

    Sortilin 1
    Hs.485195  [show with all ESTs]
    Unigene Representative Sequence: NM_002959
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000256637(uc010ovi.2 uc001dxm.2) ENST00000485149 ENST00000466471
    ENST00000493736 ENST00000482236 ENST00000483508 ENST00000495777 ENST00000471996
    ENST00000538502(uc009wfb.2)
    miRNA
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    hsa-miR-1224-3p hsa-miR-146a hsa-miR-15a hsa-miR-1260b hsa-miR-3653 hsa-miR-1273d hsa-miR-149 hsa-miR-200b
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      QuantiTect SYBR Green Assays in human, mouse, rat SORT1
      QuantiFast Probe-based Assays in human, mouse, rat SORT1

    Additional mRNA sequence: 

    AK000757.1 AK023648.1 AK129918.1 AK130545.1 AK293118.1 AK301548.1 AK310147.1 AL117561.1 
    BC023542.1 BC041982.1 BC053575.1 

    13 DOTS entries:

    DT.95202133  DT.100677104  DT.40131810  DT.100892396  DT.40310861  DT.95340212  DT.121357935  DT.100822707 
    DT.92051462  DT.92435611  DT.95340199  DT.95340238  DT.92051461 

    Selected AceView cDNA sequences (see all 430):

    BE857607 BQ774407 CF552412 AA782785 W72264 W76481 BQ017005 CD368250 
    BU183788 AI969509 AA669787 CB528972 AW005156 AI248258 BM679059 BQ421848 
    AA778069 BQ027195 CA306002 BF110264 AA757275 AI367930 CA396074 BU607377 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SORT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCCCTAAAA
    SORT1 Expression
    About this image


    SORT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 11 entries
             Thalamus
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Mature follicles
     
     Bone (Muscoskeletal System)
             Mandibular Condyle
    SORT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SORT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.485195

    UniProtKB/Swiss-Prot: SORT_HUMAN, Q99523
    Tissue specificity: Expressed in brain and prostate (at protein level). Expressed at high levels in brain, spinal
    cord, heart, skeletal muscle, thyroid, placenta and testis. Expressed at lower levels in lymphoid organs, kidney,
    colon and liver

        Pathway & Disease-focused RT2 Profiler PCR Array including SORT1: 
              Obesity in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SORT1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SORT1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sort11 , 5 sortilin 11, 5 87.76(n)1
    91.52(a)1
      3 (46.90 cM)5
    206611  NM_019972.31  NP_064356.21 
     1082840915 
    lizard
    (Anolis carolinensis)
    Reptilia SORT16
    sortilin 1
    68(a)
    1 ↔ 1
    4(105394305-105489223)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.179472 Xenopus laevis transcribed sequence with weak similarity more 75.19(n)    BM179634.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sort1a1 sortilin 1a 66.22(n)
    66.18(a)
      406511  NM_213230.1  NP_998395.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VTH2(YJL222W)4 Putative membrane glycoprotein with strong similarity more   --   10(11475-16124) 853233  NP_012313.1 


    ENSEMBL Gene Tree for SORT1 (if available)
    TreeFam Gene Tree for SORT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SORT1 gene
    SORCS32  SORCS12  SORL12  SORCS22  

    SORT1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    SORT_HUMAN, Q99523: Genetic variations in SORT1 influence low density lipoprotein cholesterol (LDL-C) variability and
    contribute to the low density lipoprotein cholesterol level quantitative trait locus 6 (LDLCQ6) [MIM:613589]


    Selected SNPs for SORT1 (see all 1697)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs710696761,2
    C--107762382(+) ACATATATA/-  
            
    CACAT
    2 -- int11Minor allele frequency- -:0.00NA 2
    rs710696771,2
    C--107776030(+) AAAAA-/A/GGAAAG 2 -- int11NA 2
    rs666168771,2
    C--107788898(+) AGGCT-/AAACTC 2 -- int10--------
    rs57769721,2
    C--109855136(+) CAAAT-/AAAAAA 2 -- ut31 trp31Minor allele frequency- A:0.00NA 2
    rs38668961,2
    C--109856385(+) AAAAC-/AAAAAAG 4 -- ut312Minor allele frequency- AA:0.32NS CSA 682
    rs680284141,2
    C--109856385(+) AAAAC-/AAAAAAG 2 -- ut311Minor allele frequency- AA:0.00NA 2
    rs2005426231,2
    C--109856386(+) AAACAA/CAAAAG 2 -- ut310--------
    rs3723311711,2
    C--109856843(+) TTTTT-/GGGGGG 2 -- int10--------
    rs113309391,2
    C,F--109865283(+) GCAGC-/TTGGGA 2 -- int13Minor allele frequency- T:0.32NA NS 716
    rs359144711,2
    C--109866758(+) CCTTC-/TTTTTT 2 -- int12Minor allele frequency- T:0.00NA CSA 4

    HapMap Linkage Disequilibrium report for SORT1 (109852187 - 109940573 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SORT1: --
    Human Gene Mutation Database (HGMD): SORT1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SORT1
    DNA2.0 Custom Variant and Variant Library Synthesis for SORT1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602458   
    OMIM disorders: 613589  
    UniProtKB/Swiss-Prot: SORT_HUMAN, Q99523
  • Note=A common polymorphism located in a non-coding region between CELSR2 and PSRC1 alters a CEBP
    transcription factor binding site and is responsible for changes in hepatic expression of SORT1. Altered SORT1
    expression in liver affects low density lipoprotein cholesterol levels in plasma and is associated with
    susceptibility to myocardial infarction

  • Selected diseases for SORT1 (see all 37):    
    About MalaCards
    geniculate ganglionitis    cerebral artery occlusion    gigantism    frontotemporal dementia
    spinal cord injury    neurologic diseases    acne    dementia
    epididymitis    hypercholesterolemia    pituitary adenoma    coronary heart disease
    coronary artery disease    medulloblastoma    cerebritis    kidney disease
    myocardial infarction    amyotrophic lateral sclerosis    lateral sclerosis    adenoma

    1 disease from the University of Copenhagen DISEASES database for SORT1:
    Frontotemporal dementia

    SORT1 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for SORT1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 1 17094477 (1)
    cancer 0 2 11304684 (1), 12419319 (1)

    Genetic Association Database (GAD): SORT1
    Human Genome Epidemiology (HuGE) Navigator: SORT1 (21 documents)

    Export disorders for SORT1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for SORT1 gene, integrated from 10 sources (see all 168):
    (articles sorted by number of sources associating them with SORT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Internalization and trafficking of neurotensin via NTS3 receptors in HT29 cells. (PubMed id 15313463)1, 2, 9 Morinville A....Mazella J. (Int. J. Biochem. Cell Biol. 2004)
    2. Shedding of the luminal domain of the neurotensin receptor-3/sortilin in the HT29 cell line. (PubMed id 12419319)1, 2, 9 Navarro V.... Mazella J. (Biochem. Biophys. Res. Commun. 2002)
    3. Involvement of the neurotensin receptor-3 in the neurotensin-induced migration of human microglia. (PubMed id 12598608)1, 2, 9 Martin S.... Mazella J. (J. Neurosci. 2003)
    4. Propeptide cleavage conditions sortilin/neurotensin receptor-3 for ligand binding. (PubMed id 9927419)1, 2, 9 Petersen C.M.... Madsen P. (EMBO J. 1999)
    5. Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma. (PubMed id 21087763)1, 4 Carrasquillo M.M....Rademakers R. (Am. J. Hum. Genet. 2010)
    6. Association of the single nucleotide polymorphism rs599839 in the vicinity of the sortilin 1 gene with LDL and triglyceride metabolism, coronary heart disease and myocardial infarction. The Ludwigshafen Risk and Cardiovascular Health Study. (PubMed id 19837406)1, 4 Kleber M.E....MAorz W. (Atherosclerosis 2010)
    7. A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses. (PubMed id 20971364)1, 4 Ripatti S....Kathiresan S. (Lancet 2010)
    8. Biological, clinical and population relevance of 95 loci for blood lipids. (PubMed id 20686565)1, 2 Teslovich T.M....Kathiresan S. (Nature 2010)
    9. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility &quot;hot-spot&quot;. (PubMed id 20628624)1, 4 Johnatty S.E.... . (PLoS Genet. 2010)
    10. Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk. (PubMed id 20167577)1, 4 Reynolds C.A....Prince J.A. (Hum. Mol. Genet. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6272 HGNC: 11186 AceView: SORT1 Ensembl:ENSG00000134243 euGenes: HUgn6272
    ECgene: SORT1 Kegg: 6272 H-InvDB: SORT1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SORT1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SORT1 gene:
    Search GeneIP for patents involving SORT1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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