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GPC1 Gene

protein-coding   GIFtS: 68
GCID: GC02P241378

Glypican 1

  See GPC1-related disease
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
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 biliary atresia. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   Search for regulatory transcription factor binding sites for GPC1
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: GPC1_HUMAN, P35052 (See protein sequence)
Recommended Name: Glypican-1 precursor  
Size: 558 amino acids; 61680 Da
3 PDB 3D structures from and Proteopedia for GPC1:
4ACR (3D)        4AD7 (3D)        4BWE (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: 

  • 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 chains1
  • 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
    deaminative 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 rafts1
  • This cell-associated glypican is further processed to give rise to a medium-released species1
  • Glycosylation2 at Asn79, Asn116, Ser486, Ser488, Ser490, Thr512, Thr515
  • Modification sites at PhosphoSitePlus

  • See GPC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002072.2  
    ENSEMBL proteins: 
     ENSP00000264039   ENSP00000415077   ENSP00000410251   ENSP00000389276   ENSP00000392629  
     ENSP00000390242  
    Reactome Protein details: P35052

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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:
    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


    Find genes that share domains with GPC1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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--
         
    Find genes that share ontologies with GPC1           About GenesLikeMe


    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 

    Find genes that share phenotypes with GPC1           About GenesLikeMe

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

       genOway: Develop your customized and physiologically relevant rodent model for GPC1

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate GPC1 (see all 19):
    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
    SwitchGear 3'UTR luciferase reporter plasmidGPC1 3' UTR sequence
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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
    GPC1_HUMAN, P35052: 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
    GPC1_HUMAN, P35052: Secreted glypican-1: Secreted, extracellular space
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    extracellular5
    plasma membrane5
    golgi apparatus4
    lysosome4
    vacuole4
    cytosol1
    endoplasmic reticulum1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    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--

    Find genes that share ontologies with GPC1           About GenesLikeMe


    (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 GPC1 About   (see all 14)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Heparan sulfate/heparin (HS-GAG) metabolism
    Heparan sulfate/heparin (HS-GAG) metabolism0.57
    HS-GAG degradation0.39
    HS-GAG biosynthesis0.57
    Glypican pathway0.00
    2MPS VI - Maroteaux-Lamy syndrome
    MPS VI - Maroteaux-Lamy syndrome0.45
    MPS IIIB - Sanfilippo syndrome B0.45
    MPS IIIC - Sanfilippo syndrome C0.45
    MPS II - Hunter syndrome0.45
    MPS IV - Morquio syndrome A0.45
    Glycosaminoglycan metabolism0.45
    Mucopolysaccharidoses0.45
    MPS IV - Morquio syndrome B0.45
    3Signaling by Robo receptor
    Inactivation of Cdc42 and Rac0.00
    Signaling by Robo receptor
    Activation of Rac0.00
    Role of Abl in Robo-Slit signaling0.00
    4Diseases associated with visual transduction
    Visual phototransduction0.44
    Diseases associated with visual transduction0.43
    Retinoid metabolism and transport0.44
    5L1CAM interactions
    Axon guidance0.63
    Developmental Biology0.63


    Find genes that share SuperPaths with GPC1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 R&D Systems Pathways for GPC1
        Wnt Signaling Pathways
    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

    Selected Reactome Pathways for GPC1 (see all 8)
        Inactivation of Cdc42 and Rac
    Retinoid metabolism and transport
    HS-GAG biosynthesis
    Role of Abl in Robo-Slit signaling
    Signaling by Robo receptor


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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GPC1
    Interactions:

        GeneGlobe Interaction Network for GPC1

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

    Selected Interacting proteins for GPC1 (P350522, 3 ENSP000002640394) via UniProtKB, MINT, STRING, and/or I2D (see all 98)
    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): Selected biological process terms (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--

    Find genes that share ontologies with GPC1           About GenesLikeMe



    (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 Tocris compounds for 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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    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 

    Selected AceView cDNA sequences (see all 280):

    C04831 BQ675050 BU731031 BM728432 BU860245 BC027997 AI091399 BQ575775 
    CB529955 BI760148 BU742210 H18757 AA371732 BP350593 BM995599 BQ919288 
    AU099265 BU956351 CR611835 BU149410 AK095397 CB215485 AI859063 CR598136 

    GeneLoc Exon Structure

    Selected 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™, 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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    GPC1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 7) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Intervertebral Disc Nucleus Pulposus Cells Nucleus Pulposus
             Nucleus Pulposus
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Endochondral Facial Bones
     
     Tooth (Integumentary System)    fully expand to see all 2 entries
             Inner Enamel Epithelial Cells Dental Enamel
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Epithelial Cells
             Inner Enamel Epithelial Cells Dental Enamel
    GPC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GPC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.328232
        Custom PCR Arrays for GPC1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GPC1

    (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

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    This gene was present in the common ancestor of animals.

    Orthologs for GPC1 gene from Selected species (see all 13)    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 67.39(n)
    61.81(a)
      424770  XM_422590.4  XP_422590.2 
    lizard
    (Anolis carolinensis)
    Reptilia GPC16
    glypican 1
    60(a)
    1 ↔ 1
    3(29620281-29812112)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gpc11 glypican 1 61.72(n)
    59.15(a)
      779769  NM_001078848.1  NP_001072316.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc639472 similar to glypican 1 75.33(n)   393995  BC053161.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta dlp6
    dally-like
    22(a)
    1 → many
    3L(14625701-14664709)
    worm
    (Caenorhabditis elegans)
    Secernentea gpn-16
    Protein GPN-1 (gpn-1) mRNA, complete cds
    20(a)
    1 → many
    X(15681726-15687472) WBGene00001687


    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)
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    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

    Find genes that share paralogs with GPC1           About GenesLikeMe



    (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 GPC1 (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) Selected 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
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing GPC1
    DNA2.0 Custom Variant and Variant Library Synthesis for GPC1

    (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: 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

  • 1 disease for GPC1:    
    About MalaCards
    biliary atresia

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

    Find genes that share disorders with GPC1           About GenesLikeMe

    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)
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    PubMed articles for GPC1 gene, integrated from 10 sources (see all 49):
    (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. (J. Biol. Chem. 2012)
    2. The structural role of N-linked glycans on human glypican-1. (PubMed id 21932778)1, 2 Svensson G.... Mani K. (Biochemistry 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. (Schizophr Bull 2009)
    4. 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. (Hum. Mutat. 2009)
    5. S-Nitrosylation of secreted recombinant human glypican-1. (PubMed id 19479373)1, 2 Svensson G. and Mani K. (Glycoconj. J. 2009)
    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. (FASEB J. 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. (Genome Res. 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. (J. Biol. Chem. 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. (Genomics 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. (J. Cell Biol. 1990)

    (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: 2817 HGNC: 4449 AceView: GPC1 Ensembl:ENSG00000063660 euGenes: HUgn2817
    ECgene: GPC1 Kegg: 2817 H-InvDB: GPC1

    (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)
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    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.)
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    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



    (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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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