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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SORT1 Gene

protein-coding   GIFtS: 65
GCID: GC01M109852

Sortilin 1

Alzheimer's & Parkinson's Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Development Neurotrophin family signaling and Golgi Associated Vesicle Biogenesis. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SORT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: 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
3 PDB 3D structures from and Proteopedia for SORT1:
3F6K (3D)        3G2U (3D)        3G2V (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:

  • UniProtKB: The N-terminal propeptide is cleaved by furin and possibly other homologous proteases
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q99523

  • SORT1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SORT1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001192157.1  NP_002950.3  

    ENSEMBL proteins: 
     ENSP00000256637   ENSP00000438597  
    Reactome Protein details: Q99523
    Human Recombinant Protein Products for SORT1: 
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    R&D Systems Recombinant & Natural Proteins for SORT1 (Sortilin)
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    Novus Biologicals SORT1 Protein
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SORT1 

    Gene Ontology (GO): 5/20 cellular component terms (GO ID links to tree view) (see all 20):    About this table

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

    SORT1 for ontologies           About GeneDecksing



    SORT1 Antibody Products: 
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    Assay Products for SORT1: 
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    Cloud-Clone Corp. CLIAs for SORT1


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

    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11390366
    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: Sort1tm1Tew Sort1tm1Camo

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SORT1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 

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    GenScript: all cDNA clones in your preferred vector (see all 2): SORT1 (NM_002959)
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SORT1 About   (see all 6)                                                                                              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
    3Membrane Trafficking
    Membrane Trafficking0.32
    4p75(NTR)-mediated signaling
    p75(NTR)-mediated signaling
    5Lysosome
    Lysosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SORT1
        Development Neurotrophin family signaling


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

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

    4        Reactome Pathways for SORT1
        Membrane Trafficking
    Clathrin derived vesicle budding
    Golgi Associated Vesicle Biogenesis
    trans-Golgi Network Vesicle Budding


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


    SORT1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SORT1

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

    5/36 Interacting proteins for SORT1 (Q995231, 2, 3 ENSP000002566374) via UniProtKB, MINT, STRING, and/or I2D (see all 36)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GGA1Q9UJY51, 2, 3, ENSP000003413444EBI-1057058,EBI-447141 MINT-17263 MINT-17262 I2D: score=5 STRING: ENSP00000341344
    CDK2P249411, 3, ENSP000002669704EBI-1057058,EBI-375096 I2D: score=2 STRING: ENSP00000266970
    GGA2Q9UJY42, 3, ENSP000003119624MINT-15490 MINT-18373 MINT-15491 MINT-18374 I2D: score=3 STRING: ENSP00000311962
    NGFRP081383, ENSP000001722294I2D: score=3 STRING: ENSP00000172229
    BDNFP235603, ENSP000004143034I2D: score=1 STRING: ENSP00000414303
    About this table

    Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SORT1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about SORT1 / SORT

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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)

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    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 

    24/430 AceView cDNA sequences (see all 430):

    BQ958449 CF552412 BM761938 BE552306 BE219493 BU189207 AA411308 BM726779 
    AA847667 AK000757 BF110264 AW013931 BQ675865 CA306002 AL554856 AI367930 
    CA396074 W72264 AK130545 AA778069 AI400054 BE503814 H98711 BM798604 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SORT1 expression in normal human tissues (normalized intensities)      SORT1 embryonic expression: see
    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 
     5/7 selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 20 entries
             Thalamus
             postcentral gyrus   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Lung (Respiratory System)
             bronchoalveolar lavage cells   
     
     Intestine (Gastrointestinal Tract)
             ileum   
     
     Adipose (Muscoskeletal System)
             epididymal fat pads   

    See SORT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SORT1

    SOURCE GeneReport for Unigene cluster: Hs.485195

    UniProtKB/Swiss-Prot: SORT_HUMAN, Q99523
    Tissue specificity: 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

        SABiosciences Expression via Pathway-Focused PCR Array including SORT1: 
              Obesity in human mouse rat

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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SORT1 gene from 6/17 species (see all 17)    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_019972.21  NP_064356.21 
     1082840915 
    chicken
    (Gallus gallus)
    Aves LOC1008585921 sortilin-like 65.43(n)
    68.15(a)
      100858592  XM_003643556.1  XP_003643604.1 
    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 66.23(n)
    66.09(a)
      406511  NM_213230.1  NP_998395.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VTH2(YJL222W)4
    PEP11
    Putative membrane glycoprotein with strong similarity more4
    Pep1p1
    44.3(n)1
    30.85(a)1
      10(11475-16124)4
    8522641  NP_009536.11  8532334 
     NP_012313.14 


    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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: SORT_HUMAN, Q99523
    Polymorphism: 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]


    10/1697 SNPs in SORT1 are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/31 diseases for SORT1 (see all 31):    About MalaCards
    geniculate ganglionitis    cerebral artery occlusion    gigantism    frontotemporal dementia
    spinal cord injury    acne    neurologic diseases    dementia
    pituitary adenoma    medulloblastoma    coronary heart disease    cerebritis
    kidney disease    myocardial infarction    adenoma    glioblastoma
    obesity    retinitis    alzheimer's disease    ovarian cancer

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

    SORT1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    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

    PubMed articles for SORT1 gene, integrated from 9 sources (see all 162):
    (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. (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. (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. (2003)
    4. Propeptide cleavage conditions sortilin/neurotensin receptor-3 for ligand binding. (PubMed id 9927419)1, 2, 9 Petersen C.M.... Madsen P. (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. (2010)
    6. A multilocus genetic risk score for coronary heart di sease: case-control and prospective cohort analyses. (PubMed id 20971364)1, 4 Ripatti S....Kathiresan S. (2010)
    7. Biological, clinical and population relevance of 95 l oci for blood lipids. (PubMed id 20686565)1, 2 Teslovich T.M....Kathiresan S. (2010)
    8. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility 'hot-spot'. (PubMed id 20628624)1, 4 Johnatty S.E.... . (2010)
    9. 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. (2010)
    10. From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus. (PubMed id 20686566)1, 2 Musunuru K....Rader D.J. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 6272 HGNC: 11186 AceView: SORT1 Ensembl:ENSG00000134243 euGenes: HUgn6272
    ECgene: SORT1 Kegg: 6272 H-InvDB: SORT1

    (According to HUGE)
    About This Section
      --

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



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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