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

GPC1 Gene

protein-coding   GIFtS: 67
GCID: GC02P241378

Glypican 1

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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
Glypican 11 2
Glypican Proteoglycan 11 2
glypican2
glypican-12

External Ids:    HGNC: 44491   Entrez Gene: 28172   Ensembl: ENSG000000636607   OMIM: 6003955   UniProtKB: P350523   

Export aliases for GPC1 gene to outside databases

Previous GC identifers: GC02M240071 GC02M240913 GC02P241394 GC02P241695 GC02P241095 GC02P241023 GC02P233131


(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 GPC1 Gene:
Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a
variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family
(GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage.
These proteins may play a role in the control of cell division and growth regulation. (provided by RefSeq, Jul
2008)

GeneCards Summary for GPC1 Gene: 
GPC1 (glypican 1) is a protein-coding gene. Diseases associated with GPC1 include duchenne muscular dystrophy, and morquio syndrome b, and among its related super-pathways are Metabolism of carbohydrates and Heparan sulfate/heparin (HS-GAG) metabolism. GO annotations related to this gene include laminin binding and copper ion binding. An important paralog of this gene is GPC4.

UniProtKB/Swiss-Prot: GPC1_HUMAN, P35052
Function: Cell surface proteoglycan that bears heparan sulfate. Binds, via the heparan sulfate side chains,
alpha-4 (V) collagen and participates in Schwann cell myelination (By similarity). May act as a catalyst in
increasing the rate of conversion of prion protein PRPN(C) to PRNP(Sc) via associating (via the heparan sulfate
side chains) with both forms of PRPN, targeting them to lipid rafts and facilitating their interaction. Required
for proper skeletal muscle differentiation by sequestering FGF2 in lipid rafts preventing its binding to
receptors (FGFRs) and inhibiting the FGF-mediated signaling

Gene Wiki entry for GPC1 (Glypican 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_000002.11  NC_018913.2  NT_005416.13  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for GPC1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGPC1 promoter sequence
   Search SABiosciences Chromatin IP Primers for GPC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GPC1


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

Entrez Gene cytogenetic band: 2q35-q37   Ensembl cytogenetic band:  2q37.3   HGNC cytogenetic band: 2q35-q37

GPC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GPC1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P241378:  view genomic region     (about GC identifiers)

Start:
241,375,088 bp from pter      End:
241,407,495 bp from pter
Size:
32,408 bases      Orientation:
plus 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: GPC1_HUMAN, P35052 (See protein sequence)
Recommended Name: Glypican-1 precursor  
Size: 558 amino acids; 61680 Da
Subcellular location: Cell membrane; Lipid-anchor, GPI-anchor; Extracellular side. Endosome. Note=S-nitrosylated
form recycled in endosomes. Localizes to CAV1-containing vesicles close to the cell surface. Cleavage of heparan
sulfate side chains takes place mainly in late endosomes. Associates with both forms of PRNP in lipid rafts.
Colocalizes with APP in perinuclear compartments and with CP in intracellular compartments. Associates with
fibrillar APP Abeta peptides in lipid rafts in Alzheimer disease brains
Subcellular location: Secreted glypican-1: Secreted, extracellular space
2 PDB 3D structures from and Proteopedia for GPC1:
4ACR (3D)        4AD7 (3D)    
Secondary accessions: Q53QM4

Explore the universe of human proteins at neXtProt for GPC1: NX_P35052

Explore proteomics data for GPC1 at MOPED 

Post-translational modifications:

  • UniProtKB: S-nitrosylated in a Cu(2+)-dependent manner. Nitric acid (NO) is released from the nitrosylated cysteines by
    ascorbate or by some other reducing agent, in a Cu(2+) or Zn(2+) dependent manner. This free nitric oxide is then
    capable of cleaving the heparan sulfate side chains
  • UniProtKB: N- and O-glycosylated. N-glycosylation is mainly of the complex type containing sialic acid. O-glycosylated with
    heparan sulfate. The heparan sulfate chains can be cleaved either by the action of heparanase or, degraded by a
    daaminative process that uses nitric oxide (NO) released from the S-nitrosylated cysteines. This process is
    triggered by ascorbate, or by some other reducing agent, in a Cu(2+)- or Zn(2+) dependent manner. Cu(2+) ions are
    provided by ceruloproteins such as APP, PRNP or CP which associate with GCP1 in intracellular compartments or
    lipid rafts
  • UniProtKB: This cell-associated glypican is further processed to give rise to a medium-released species
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P35052

  • GPC1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GPC1 Protein Expression
    REFSEQ proteins: NP_002072.2  
    ENSEMBL proteins: 
     ENSP00000264039   ENSP00000415077   ENSP00000410251   ENSP00000389276   ENSP00000392629  
     ENSP00000390242  
    Reactome Protein details: P35052
    Human Recombinant Protein Products for GPC1: 
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    Cloud-Clone Corp. Proteins for GPC1 

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix ISS--
    GO:0005615extracellular space IEA--
    GO:0005768endosome IEA--
    GO:0005796Golgi lumen TAS--
    GO:0005886plasma membrane TAS--

    GPC1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for GPC1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    GPC: Proteoglycans / Cell Surface : Glypicans

    3 InterPro protein domains:
     IPR015502 Glypican-1
     IPR019803 Glypican_CS
     IPR001863 Glypican

    Graphical View of Domain Structure for InterPro Entry P35052

    ProtoNet protein and cluster: P35052

    1 Blocks protein domain: IPB001863 Glypican

    UniProtKB/Swiss-Prot: GPC1_HUMAN, P35052
    Similarity: Belongs to the glypican family


    GPC1 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: GPC1_HUMAN, P35052
    Function: Cell surface proteoglycan that bears heparan sulfate. Binds, via the heparan sulfate side chains,
    alpha-4 (V) collagen and participates in Schwann cell myelination (By similarity). May act as a catalyst in
    increasing the rate of conversion of prion protein PRPN(C) to PRNP(Sc) via associating (via the heparan sulfate
    side chains) with both forms of PRPN, targeting them to lipid rafts and facilitating their interaction. Required
    for proper skeletal muscle differentiation by sequestering FGF2 in lipid rafts preventing its binding to
    receptors (FGFRs) and inhibiting the FGF-mediated signaling

         Genatlas biochemistry entry for GPC1:
    glypican 1,62kDa,integral membrane (heparan sulfate) proteoglycan,potentially,involved in cell adhesion,cell
    growth histogenesis of nervous central system,receptor of SLIT1 and SLIT3

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005507copper ion binding IDA12732622
    GO:0017134fibroblast growth factor binding ISS--
    GO:0043236laminin binding ISS--
    GO:0043395heparan sulfate proteoglycan binding IEA--
         
    GPC1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GPC1:
     Increased gamma-H2AX phosphory 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Gpc1):
     homeostasis/metabolism  no phenotypic analysis  tumorigenesis 

    GPC1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Gpc1tm1.1Alan for GPC1

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    SwitchGear 3'UTR luciferase reporter plasmidGPC1 3' UTR sequence
    Inhib. RNA
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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 GPC1 About   (see all 17)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1MPS IIIC - Sanfilippo syndrome C
    MPS IIIC - Sanfilippo syndrome C0.48
    Mucopolysaccharidoses0.48
    MPS IV - Morquio syndrome A0.48
    MPS IIID - Sanfilippo syndrome D0.48
    MPS IV - Morquio syndrome B0.48
    MPS I - Hurler syndrome0.48
    MPS VI - Maroteaux-Lamy syndrome0.48
    MPS IX - Natowicz syndrome0.48
    2Heparan sulfate/heparin (HS-GAG) metabolism
    Heparan sulfate/heparin (HS-GAG) metabolism0.56
    HS-GAG degradation0.40
    HS-GAG biosynthesis0.56
    3Visual phototransduction
    Visual phototransduction0.48
    Diseases associated with visual transduction0.47
    Retinoid metabolism and transport0.48
    4Axon guidance
    Axon guidance0.69
    Developmental Biology0.69
    5A tetrasaccharide linker sequence is required for GAG synthesis
    Chondroitin sulfate/dermatan sulfate metabolism0.54
    A tetrasaccharide linker sequence is required for GAG synthesis0.54

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 R&D Systems Pathways for GPC1
        Wnt Signaling Pathway
    VEGF - VEGF R2 Signaling Pathways


    2 BioSystems Pathways for GPC1
        Glypican 1 network
    Glypican pathway

    2 Sino Biological Pathways for GPC1 
        Canonical Wnt Pathway
    Non-Canonical Wnt Pathway

    5/31        Reactome Pathways for GPC1 (see all 31)
        Diseases associated with visual transduction
    Developmental Biology
    Chondroitin sulfate/dermatan sulfate metabolism
    MPS VI - Maroteaux-Lamy syndrome
    Metabolism


    1         Kegg Pathway  (Kegg details for GPC1):
        Proteoglycans in cancer


    GPC1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GPC1

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

    5/81 Interacting proteins for GPC1 (P350522, 3 ENSP000002640394) via UniProtKB, MINT, STRING, and/or I2D (see all 81)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TDGF1P133852, 3, ENSP000002961454MINT-6797299 I2D: score=1 STRING: ENSP00000296145
    FSTL1Q128412, 3, ENSP000002956334MINT-7990697 I2D: score=1 STRING: ENSP00000295633
    APPP050673, ENSP000002849814I2D: score=2 STRING: ENSP00000284981
    SLIT1O750933, ENSP000002660584I2D: score=1 STRING: ENSP00000266058
    SLIT2O948133, ENSP000002737394I2D: score=3 STRING: ENSP00000273739
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001523retinoid metabolic process TAS--
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006024glycosaminoglycan biosynthetic process TAS--
    GO:0006027glycosaminoglycan catabolic process TAS--
    GO:0007411axon guidance TAS--

    GPC1 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GPC1

    Search CenterWatch for drugs/clinical trials and news about GPC1

    (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 GPC1 gene: 
    NM_002081.2  

    Unigene Cluster for GPC1:

    Glypican 1
    Hs.328232  [show with all ESTs]
    Unigene Representative Sequence: AB209122
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264039(uc002vyw.4) ENST00000469694 ENST00000420138 ENST00000426280
    ENST00000427506 ENST00000425056 ENST00000495100 ENST00000455111 ENST00000466624


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    hsa-miR-300 hsa-miR-485-3p hsa-miR-1271 hsa-miR-624 hsa-miR-3133 hsa-miR-124 hsa-miR-330-3p hsa-miR-129-3p
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    Additional mRNA sequence: 

    AB209122.1 AK095397.1 AK096638.1 AK223516.1 BC008123.1 BC027997.1 BC045712.1 BC051279.1 
    X54232.1 

    11 DOTS entries:

    DT.40254510  DT.449718  DT.92440163  DT.100790089  DT.95076396  DT.100790093  DT.120988129  DT.100762340 
    DT.100030418  DT.40294139  DT.92440150 

    24/280 AceView cDNA sequences (see all 280):

    BM694626 AI091399 F09686 BP350593 BI760148 AA371732 AI859063 C04831 
    CR600471 AI825274 BU149410 BU682052 AU099265 BM728432 BU860245 CR598136 
    BQ575775 CB215485 BQ675050 BM995599 AK095397 BQ919288 BC027997 BU956351 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for GPC1 (see all 8)    About this scheme

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


    ECgene alternative splicing isoforms for GPC1

    (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

    GPC1 expression in normal human tissues (normalized intensities)      GPC1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTTGTTCTC
    GPC1 Expression
    About this image


    GPC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/11 selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             ganglion/cranial/facial VII   
     
     Bone (Muscoskeletal System)    fully expand to see all 4 entries
             Endochondral Facial Bones
             skeleton/cranium/viscerocranium   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 4 entries
             Intervertebral Disc Nucleus Pulposus Cells Lumbar Intervertebral Disc
             fetal cartilage   
     
     Tooth (Integumentary System)    fully expand to see all 4 entries
             visceral organ/oral region/upper jaw   
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 2 entries
             skeleton/cranium/viscerocranium   

    See GPC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GPC1

    SOURCE GeneReport for Unigene cluster: Hs.328232
        SABiosciences Custom PCR Arrays for GPC1
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    In Situ
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    (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.

    Orthologs for GPC1 gene from 6/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gpc11 , 5 glypican 11, 5 86.95(n)1
    88.87(a)1
      1 (46.60 cM)5
    147331  NM_016696.41  NP_057905.11 
     928316865 
    chicken
    (Gallus gallus)
    Aves GPC11 glypican 1 66.85(n)
    61.03(a)
      424770  XM_422590.3  XP_422590.2 
    lizard
    (Anolis carolinensis)
    Reptilia GPC16
    glypican 1
    60(a)
    1 ↔ 1
    3(29620281-29812112)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc639472 similar to glypican 1 75.33(n)   393995  BC053161.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta dlp6
    dally-like
    20(a)
    1 → many
    3L(14625701-14664709)
    worm
    (Caenorhabditis elegans)
    Secernentea gpn-16
    Protein GPN-1
    17(a)
    1 → many
    X(15681726-15687472)


    ENSEMBL Gene Tree for GPC1 (if available)
    TreeFam Gene Tree for GPC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GPC1 gene
    GPC42  GPC62  GPC32  GPC22  GPC52  
    3 SIMAP similar genes for GPC1 using alignment to 7 protein entries:     GPC1_HUMAN (see all proteins):
    GPC6    GPC4    GPC2

    GPC1 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

    10/723 SNPs in GPC1 are shown (see all 723)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0360444
    A breast cancer sample4--see VAR_0360442 A D mis40--------
    rs1128453501,2
    C--233129331(+) GACAGC/TGGGCG 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs744830131,2
    F--240738462(+) TCCTGC/GGGCTC 1 -- us2k11Minor allele frequency- G:0.05WA 118
    rs1134093171,2
    C--240738485(+) AACACG/AGCTTT 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1472562511,2
    C--240738509(+) CCCGGC/TGGCAT 1 -- us2k10--------
    rs1812921451,2
    C--240738514(+) CGGCAC/TGTGCA 1 -- us2k10--------
    rs1855495841,2
    --240738536(+) GAAGGC/GCCTGG 1 -- us2k10--------
    rs43449331,2
    C,F,A,H--241373121(-) CGCAGA/GCCAGG 1 -- us2k125Minor allele frequency- N:0.00NS EA NA WA CSA 2273
    rs1407092591,2
    --241373150(+) GACCTA/GCGATG 1 -- us2k10--------
    rs1892440701,2
    --241373151(+) ACCTGA/CGATGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for GPC1 (241375088 - 241407495 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/24 variations for GPC1 (see all 24):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1000024CNV Deletion20482838
    esv2721931CNV Deletion23290073
    esv2721932CNV Deletion23290073
    esv2721933CNV Deletion23290073
    esv1515337CNV Insertion17803354
    nsv508899CNV Insertion20534489
    nsv460157CNV Loss19166990
    nsv876116CNV Loss21882294
    nsv516179CNV Loss19592680
    dgv4469n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): GPC1
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing GPC1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600395    OMIM disorders: --

    UniProtKB/Swiss-Prot: GPC1_HUMAN, P35052
  • Note=Associates (via the heparan sulfate side chains) with fibrillar APP-beta amyloid peptides in
    primitive and classic amyloid plaques and may be involved in the deposition of these senile plaques in the
    Alzheimer disease (AD) brain
  • Note=Misprocessing of GPC1 is found in fibroblasts of patients with Niemann-Pick Type C1 disease. This is
    due to the defective deaminative degradation of heparan sulfate chains

  • 14 diseases for GPC1:    About MalaCards
    duchenne muscular dystrophy    morquio syndrome b    brachydactyly    pancreatic ductal adenocarcinoma
    muscular dystrophy    pancreatitis    pancreatic cancer    alzheimer's disease
    schizophrenia    adenocarcinoma    hepatocellular carcinoma    ovarian cancer
    breast cancer    endotheliitis

    1 disease from the University of Copenhagen DISEASES database for GPC1:
    Brachydactyly

    GPC1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): GPC1
    Human Genome Epidemiology (HuGE) Navigator: GPC1 (2 documents)

    Export disorders for GPC1 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 GPC1 gene, integrated from 9 sources (see all 45):
    (articles sorted by number of sources associating them with GPC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Crystal structure of N-glycosylated human glypican-1 core protein: Structure of two loops evolutionarily conserved in vertebrate glypican-1. (PubMed id 22351761)1, 2 Svensson G.... Logan D.T. (2012)
    2. The structural role of N-linked glycans on human glyp ican-1. (PubMed id 21932778)1, 2 Svensson G....Mani K. (2011)
    3. A genome-wide association study of schizophrenia using brain activation as a quantitative phenotype. (PubMed id 19023125)1, 4 Potkin S.G....Macciardi F. (2009)
    4. S-Nitrosylation of secreted recombinant human glypica n-1. (PubMed id 19479373)1, 2 Svensson G. and Mani K. (2009)
    5. Common genetic variants in pre-microRNAs were associated with increased risk of breast cancer in Chinese women. (PubMed id 18634034)1, 4 Hu Z....Shen H. (2008)
    6. Glypican-1 as an Abeta binding HSPG in the human brain: its localization in DIG domains and possible roles in the pathogenesis of Alzheimer's disease. (PubMed id 15084524)1, 2 Watanabe N....Tabira T. (2004)
    7. 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. (2004)
    8. Prion, amyloid beta-derived Cu(II) ions, or free Zn(II ) ions support S-nitroso-dependent autocleavage of glypican-1 heparan sulfate. (PubMed id 12732622)1, 2 Mani K....Fransson L.A. (2003)
    9. Assignment of the human glypican gene (GPC1) to 2q35-q37 by fluorescence in situ hybridization. (PubMed id 7774946)1, 3 Vermeesch J.R....Marynen P. (1995)
    10. Molecular cloning of a phosphatidylinositol-anchored membrane heparan sulfate proteoglycan from human lung fibroblasts. (PubMed id 2148568)1, 2 David G....van den Berghe H. (1990)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    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: 2817 HGNC: 4449 AceView: GPC1 Ensembl:ENSG00000063660 euGenes: HUgn2817
    ECgene: GPC1 Kegg: 2817 H-InvDB: GPC1

    (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 GPC1 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 GPC1 gene:
    Search GeneIP for patents involving GPC1

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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