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SNX1 Gene

protein-coding   GIFtS: 63
GCID: GC15P065757

Sorting Nexin 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
Sorting Nexin 11 2
HsT173792
VPS52
Sorting Nexin 1A2
Sorting Nexin-12
SNX1A5

External Ids:    HGNC: 111721   Entrez Gene: 66422   Ensembl: ENSG000000285287   OMIM: 6012725   UniProtKB: Q135963   

Export aliases for SNX1 gene to outside databases

Previous GC identifers: GC15P060175 GC15P057547 GC15P061964 GC15P062104 GC15P062175 GC15P064388 GC15P041212 GC15P064474 GC15P064875


(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 SNX1 Gene:
This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which
is a phosphoinositide binding domain, and are involved in intracellular trafficking. This endosomal protein
regulates the cell-surface expression of epidermal growth factor receptor. This protein also has a role in
sorting protease-activated receptor-1 from early endosomes to lysosomes. This protein may form oligomeric
complexes with family members. This gene results in three transcript variants encoding distinct isoforms.
(provided by RefSeq, Jul 2008)

GeneCards Summary for SNX1 Gene:
SNX1 (sorting nexin 1) is a protein-coding gene. Diseases associated with SNX1 include ataxia, and ovarian cancer. GO annotations related to this gene include protein transporter activity and phosphatidylinositol binding. An important paralog of this gene is SNX30.

UniProtKB/Swiss-Prot: SNX1_HUMAN, Q13596
Function: May be involved in several stages of intracellular trafficking. Plays a role in targeting
ligand-activated EGFR to the lysosomes for degradation after endocytosis from the cell surface and release from
the Golgi. Component of the retromer complex, a complex required to retrieve lysosomal enzyme receptors (IGF2R
and M6PR) from endosomes to the trans-Golgi network. Interacts with membranes containing phosphatidylinositol
3-phosphate (PtdIns(3P)) or phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2)

Gene Wiki entry for SNX1 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_000015.10  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SNX1 gene promoter:
         ER-alpha   AML1a   Chx10   STAT3   MIF-1   IRF-1   NF-kappaB   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSNX1 promoter sequence
   Search Chromatin IP Primers for SNX1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SNX1


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

Entrez Gene cytogenetic band: 15q22.31   Ensembl cytogenetic band:  15q22.31   HGNC cytogenetic band: 15q22.31

SNX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SNX1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P065757:  view genomic region     (about GC identifiers)

Start:
64,386,322 bp from pter      End:
64,438,289 bp from pter
Size:
51,968 bases      Orientation:
plus 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: SNX1_HUMAN, Q13596 (See protein sequence)
Recommended Name: Sorting nexin-1  
Size: 522 amino acids; 59070 Da
Subunit: Homodimer. Self-assembles into a complex of approximately 300 kDa (By similarity). Interacts with HGS (By
similarity). Component of the retromer complex composed of VPS26 (VPS26A or VPS26B), VPS29, VPS35, SNX1 and SNX2.
Interacts with SNX6
Miscellaneous: Binds phosphatidylinositol 3-phosphate (PtdIns-(3)P) and phosphatidylinositol 3,5-bisphosphate
(PtdIns-(3,5)P2) in liposome-based assays. Can bind PtdIns(3,4,5)P3 in protein:lipid overlay assays, but not in
liposome-based assays
2 PDB 3D structures from and Proteopedia for SNX1:
2I4K (3D)        4FZS (3D)    
Secondary accessions: A6NM19 A8K6T7 H0Y2M5 O60750 O60751 Q6ZRJ8
Alternative splicing: 3 isoforms:  Q13596-1   Q13596-2   Q13596-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SNX1: NX_Q13596

Explore proteomics data for SNX1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys286
  • Modification sites at PhosphoSitePlus

  • See SNX1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001229862.1  NP_003090.2  NP_683758.1  

    ENSEMBL proteins: 
     ENSP00000452651   ENSP00000452652   ENSP00000369638   ENSP00000261889   ENSP00000453785  
     ENSP00000452759   ENSP00000453567   ENSP00000452668   ENSP00000452852   ENSP00000452931  
     ENSP00000326668  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SNX: Sorting nexins

    4 InterPro protein domains:
     IPR005329 Sorting_nexin_N
     IPR015404 Vps5_C
     IPR001683 Phox
     IPR028660 SNX1

    Graphical View of Domain Structure for InterPro Entry Q13596

    ProtoNet protein and cluster: Q13596

    2 Blocks protein domains:
    IPB001683 Phox-like
    IPB005329 Sorting nexin


    UniProtKB/Swiss-Prot: SNX1_HUMAN, Q13596
    Similarity: Belongs to the sorting nexin family
    Similarity: Contains 1 BAR domain
    Similarity: Contains 1 PX (phox homology) domain


    SNX1 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: SNX1_HUMAN, Q13596
    Function: May be involved in several stages of intracellular trafficking. Plays a role in targeting
    ligand-activated EGFR to the lysosomes for degradation after endocytosis from the cell surface and release from
    the Golgi. Component of the retromer complex, a complex required to retrieve lysosomal enzyme receptors (IGF2R
    and M6PR) from endosomes to the trans-Golgi network. Interacts with membranes containing phosphatidylinositol
    3-phosphate (PtdIns(3P)) or phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2)

         Genatlas biochemistry entry for SNX1:
    sorting nexin 1,sorting the internalized receptors from endosome to lysosome

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11278302
    GO:0008565protein transporter activity ----
    GO:0035091phosphatidylinositol binding IDA15498486
         
    SNX1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SNX1:
     Increased S DNA content 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Snx1):
     embryogenesis  growth/size/body  mortality/aging  nervous system  normal 

    SNX1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Snx1tm1Mag for SNX1

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    miRNA
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    miRTarBase miRNAs that target SNX1:
    hsa-mir-28-5p (MIRT049992), hsa-mir-197-3p (MIRT004201), hsa-mir-28-3p (MIRT038943), hsa-mir-95-3p (MIRT006354)

    Block miRNA regulation of human, mouse, rat SNX1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SNX1 (see all 88):
    hsa-miR-26a-2* hsa-miR-3938 hsa-miR-631 hsa-miR-15a hsa-miR-30d hsa-miR-3138 hsa-miR-3074-3p hsa-miR-30a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    (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
    SNX1_HUMAN, Q13596: Endosome membrane; Peripheral membrane protein; Cytoplasmic side. Golgi apparatus,
    trans-Golgi network membrane; Peripheral membrane protein; Cytoplasmic side (Potential). Early endosome membrane;
    Peripheral membrane protein; Cytoplasmic side. Note=Enriched on tubular elements of the early endosome membrane.
    Binds preferentially to highly curved membranes enriched in phosphatidylinositol 3-phosphate (PtdIns(3P)) or
    phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    cytosol3
    golgi apparatus3
    nucleus2
    vacuole2
    lysosome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA11279102
    GO:0005768endosome ----
    GO:0005794Golgi apparatus IEA--
    GO:0005829cytosol IEA--
    GO:0010008endosome membrane IDA15673616

    SNX1 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 SNX1 About    
    See pathways by source

    SuperPathContained pathways About
    1TGF-beta Receptor Signaling Pathway
    TGF-beta Receptor Signaling Pathway


    1 BioSystems Pathway for SNX1
        TGF-beta Receptor Signaling Pathway



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SNX1
    Interactions:

        GeneGlobe Interaction Network for SNX1

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

    Selected Interacting proteins for SNX1 (Q135962, 3 ENSP000003696384) via UniProtKB, MINT, STRING, and/or I2D (see all 127)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TK1P041832, 3MINT-8274115 I2D: score=2 
    UFD1LQ928902, 3MINT-8276822 I2D: score=2 
    VPS26BQ4G0F53, ENSP000002811874I2D: score=5 STRING: ENSP00000281187
    ACVR1BP368963, ENSP000002579634I2D: score=3 STRING: ENSP00000257963
    MTMR8Q96EF03, ENSP000003639854I2D: score=3 STRING: ENSP00000363985
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport IMP15498486
    GO:0006897endocytosis TAS9819414
    GO:0007154cell communication ----
    GO:0016197endosomal transport ----
    GO:0034498early endosome to Golgi transport IMP15498486

    SNX1 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 SNX1

    6 Novoseek inferred chemical compound relationships for SNX1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mannose 6-phosphate 72.5 3 17101778 (2), 18088323 (1)
    ptdins(3)p 65.6 3 12198132 (2)
    phosphatidylinositol 41.5 5 11997453 (2), 8931154 (1), 15673616 (1)
    phosphoinositide 25.3 3 12198132 (2), 17498660 (1)
    tyrosine 9.29 3 9819414 (1), 19874558 (1), 11279102 (1)
    lipid 0 1 12198132 (1)



    SNX1 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 SNX1 gene (4 alternative transcripts): 
    NM_001242933.1  NM_003099.4  NM_148955.3  NM_152826.2  

    Unigene Cluster for SNX1:

    Sorting nexin 1
    Hs.188634  [show with all ESTs]
    Unigene Representative Sequence: NM_003099
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000560829 ENST00000559061 ENST00000380285(uc010uio.2 uc002amv.3 uc002amx.3 uc010bgw.3)
    ENST00000261889 ENST00000559844 ENST00000560260(uc010bgv.3) ENST00000561026
    ENST00000558040 ENST00000559389 ENST00000559401 ENST00000559339 ENST00000559961
    ENST00000560861 ENST00000353874
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    hsa-miR-26a-2* hsa-miR-3938 hsa-miR-631 hsa-miR-15a hsa-miR-30d hsa-miR-3138 hsa-miR-3074-3p hsa-miR-30a
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    Additional mRNA sequence: 

    AB209013.1 AF065483.1 AF065484.1 AF131792.1 AK128179.1 AK222561.1 AK222793.1 AK291752.1 
    AK310618.1 AL050148.1 BC000357.2 BT006983.1 EF491792.1 

    22 DOTS entries:

    DT.100825881  DT.447237  DT.100825882  DT.40203300  DT.97790236  DT.100825880  DT.100825887  DT.121063159 
    DT.95150461  DT.75117082  DT.452365  DT.95163072  DT.100029329  DT.121063149  DT.423081  DT.91725047 
    DT.91764053  DT.91764054  DT.91764058  DT.91944820  DT.95163058  DT.95300053 

    Selected AceView cDNA sequences (see all 377):

    T33690 CA442883 BG698801 BQ935515 BI253298 BF794276 AI272337 BM980888 
    AI472887 BI862180 BF219712 CR617673 CB178507 T17214 R17353 BI521077 
    AL552422 BM463972 BM129703 CR620387 BQ278802 BM505389 BI768417 BX471140 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SNX1 (see all 7)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c
    SP1:                                -                                                                                                                           
    SP2:                                -     -     -                                                                                                               
    SP3:                                                                                                        -     -                                             
    SP4:        -     -     -           -                                                                                                                           
    SP5:                                -                                                                                                                           


    ECgene alternative splicing isoforms for SNX1

    (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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    SNX1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAAGGTTAT
    SNX1 Expression
    About this image


    SNX1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Ovary (Reproductive System)
             Oviduct
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Colon (Gastrointestinal Tract)
     
     Kidney (Urinary System)
     
     Uterus (Reproductive System)
    SNX1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SNX1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.188634
        Custom PCR Arrays for SNX1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNX1

    (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 SNX1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Snx11 , 5 sorting nexin 11, 5 89.96(n)1
    94.43(a)1
      9 (35.71 cM)5
    564401  NM_019727.21  NP_062701.21 
     660881335 
    chicken
    (Gallus gallus)
    Aves SNX11 sorting nexin 1 78.95(n)
    85.1(a)
      427480  XM_004943621.1  XP_004943678.1 
    lizard
    (Anolis carolinensis)
    Reptilia SNX16
    sorting nexin 1
    81(a)
    1 ↔ 1
    GL343490.1(375982-389023)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX732624.12   -- 77.66(n)    BX732624.1 
    zebrafish
    (Danio rerio)
    Actinopterygii snx1a1 sorting nexin 1a 68.15(n)
    74.21(a)
      337386  NM_001128671.2  NP_001122143.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG27743 intracellular protein transport 42(a)   23F3   --
    worm
    (Caenorhabditis elegans)
    Secernentea C05D9.13   -- 36(a)   X(1164317-1167717)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VPS5(YOR069W)4 Nexin-1 homolog required for localizing membrane proteins more   --   15(453768-455795) 854235  NP_014712.2 


    ENSEMBL Gene Tree for SNX1 (if available)
    TreeFam Gene Tree for SNX1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SNX1 gene
    SNX302  SNX72  SNX22  SNX42  
    6 SIMAP similar genes for SNX1 using alignment to 9 protein entries:     SNX1_HUMAN (see all proteins):
    CERS5    PMS2P10    NRAMP1    SNX2    SNX3    SNX12

    SNX1 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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    Selected SNPs for SNX1 (see all 1012)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2012345361,2
    --44449375(+) TGCCTC/TCGCCC 6 P S mis10--------
    rs1159472301,2
    C,F--44449392(+) GGCCTG/AGAGCC 6 /L syn11Minor allele frequency- A:0.04WA 118
    rs2014682241,2
    --44449400(+) GCCGGA/TGTCCG 6 E V mis10--------
    rs2003630201,2
    C--44449411(+) AGGGGA/GCGGCC 6 T A mis10--------
    rs1133218981,2
    C--44449489(+) TGGTCA/C/GTGAGT 3 -- spd11CSA 1
    rs1996283341,2
    C--44449505(+) CCCCTC/TGGGGT 3 -- int10--------
    rs23060101,2
    C,H--44449509(-) TGCTAC/TCCCGA 3 -- int16Minor allele frequency- T:0.01EA NS NA 1918
    rs2015487631,2
    --44449525(+) GAGGGC/TACCCC 3 -- int10--------
    rs1510160441,2
    --44449647(+) GCGGTA/GGAGCT 3 -- int10--------
    rs1394383651,2
    --44449826(+) ATTCAG/TTAGGA 3 -- int10--------

    HapMap Linkage Disequilibrium report for SNX1 (64386322 - 64438289 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SNX1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2560472CNV Deletion19546169
    esv273472CNV Insertion20981092
    nsv833036CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SNX1
    DNA2.0 Custom Variant and Variant Library Synthesis for SNX1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601272    OMIM disorders: --

    10 diseases for SNX1:    
    About MalaCards
    ataxia    ovarian cancer    hypertension    tonsillitis
    alzheimer's disease    lung cancer    thyroiditis    cerebritis
    endotheliitis    prostatitis


    SNX1 for disorders           About GeneDecksing


    Export disorders for SNX1 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)
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    PubMed articles for SNX1 gene, integrated from 10 sources (see all 80):
    (articles sorted by number of sources associating them with SNX1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Enhanced degradation of EGF receptors by a sorting nexin, SNX1. (PubMed id 8638121)1, 2, 3, 9 Kurten R.C.... Gill G.N. (Science 1996)
    2. Endosomal localization and function of sorting nexin 1. (PubMed id 11997453)1, 2, 9 Zhong Q.... Gill G.N. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    3. The phox homology (PX) domain-dependent, 3-phosphoinositide-mediated association of sorting nexin-1 with an early sorting endosomal compartment is required for its ability to regulate epidermal growth factor receptor degradation. (PubMed id 12198132)1, 2, 9 Cozier G.E.... Cullen P.J. (J. Biol. Chem. 2002)
    4. Identification of a family of sorting nexin molecules and characterization of their association with receptors. (PubMed id 9819414)1, 2, 9 Haft C.R.... Taylor S.I. (Mol. Cell. Biol. 1998)
    5. Determinants of the endosomal localization of sorting nexin 1. (PubMed id 15673616)1, 2, 9 Zhong Q....Gill G.N. (Mol. Biol. Cell 2005)
    6. Interchangeable but essential functions of SNX1 and SNX2 in the association of retromer with endosomes and the trafficking of mannose 6-phosphate receptors. (PubMed id 17101778)1, 2, 9 Rojas R.... Bonifacino J.S. (Mol. Cell. Biol. 2007)
    7. Sorting nexin-1 mediates tubular endosome-to-TGN transport through coincidence sensing of high- curvature membranes and 3- phosphoinositides. (PubMed id 15498486)1, 2 Carlton J.... Cullen P.J. (Curr. Biol. 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Structural and functional characterization of the human gene for sorting nexin 1 (SNX1). (PubMed id 11410165)1, 9 Shank B.B....Kurten R.C. (DNA Cell Biol. 2001)
    10. Regulation of P2Y1 receptor traffic by sorting Nexin 1 is retromer independent. (PubMed id 20070609)1, 9 Nisar S....Mundell S.J. (Traffic 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 6642 HGNC: 11172 AceView: SNX1 Ensembl:ENSG00000028528 euGenes: HUgn6642
    ECgene: SNX1 H-InvDB: SNX1

    (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 SNX1 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 SNX1 gene:
    Search GeneIP for patents involving SNX1

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



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