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    GP6 glycoprotein VI platelet [ Homo sapiens (human) ]

    Gene ID: 51206, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GP6provided by HGNC
    Official Full Name
    glycoprotein VI plateletprovided by HGNC
    Primary source
    HGNC:HGNC:14388
    See related
    Ensembl:ENSG00000088053 MIM:605546; AllianceGenome:HGNC:14388
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GPIV; GPVI; BDPLT11
    Summary
    This gene encodes a platelet membrane glycoprotein of the immunoglobulin superfamily. The encoded protein is a receptor for collagen and plays a critical role in collagen-induced platelet aggregation and thrombus formation. The encoded protein forms a complex with the Fc receptor gamma-chain that initiates the platelet activation signaling cascade upon collagen binding. Mutations in this gene are a cause of platelet-type bleeding disorder-11 (BDPLT11). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See GP6 in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (55013705..55038264, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (58107037..58139153, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55525073..55549632, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene natural cytotoxicity triggering receptor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55450505-55451214 Neighboring gene NLR family pyrin domain containing 7 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:55461990-55462680 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55463371-55464060 Neighboring gene ribosomal protein L36a pseudogene 50 Neighboring gene NLR family pyrin domain containing 2 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55523225-55523784 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55526346-55526910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55527390-55527890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55527891-55528391 Neighboring gene GP6 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55538985-55539689 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55555893-55556394 Neighboring gene retinol dehydrogenase 13 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55572859-55573826 Neighboring gene MPRA-validated peak3563 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55587691-55588416 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55591665-55592622 Neighboring gene EPS8 signaling adaptor L1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Analysis of protein networks in resting and collagen receptor (GPVI)-stimulated platelet sub-proteomes. Wright B, et al. Proteomics, 2011 Dec. PMID 22114104
    2. Contribution of platelet glycoprotein VI to the thrombogenic effect of collagens in fibrous atherosclerotic lesions. Cosemans JM, et al. Atherosclerosis, 2005 Jul. PMID 15939050
    3. Interaction of calmodulin with the cytoplasmic domain of platelet glycoprotein VI. Andrews RK, et al. Blood, 2002 Jun 1. PMID 12010829
    4. Differences in adhesion receptor expression between immature and older platelets and red blood cells of neonates and adults. Saving KL, et al. J Pediatr Hematol Oncol, 2002 Feb. PMID 11990697
    5. Human atheromatous plaques stimulate thrombus formation by activating platelet glycoprotein VI. Penz S, et al. FASEB J, 2005 Jun. PMID 15923400

    See all (220) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Soluble glycoprotein VI predicts abdominal aortic aneurysm growth rate and is a novel therapeutic target.
      Title: Soluble glycoprotein VI predicts abdominal aortic aneurysm growth rate and is a novel therapeutic target.
    2. Protease-activated receptors and glycoprotein VI cooperatively drive the platelet component in thromboelastography.
      Title: Protease-activated receptors and glycoprotein VI cooperatively drive the platelet component in thromboelastography.
    3. Glycoprotein VI interplay with fibrin(ogen) in thrombosis.
      Title: Glycoprotein VI interplay with fibrin(ogen) in thrombosis.
    4. Differential Regulation of GPVI-Induced Btk and Syk Activation by PKC, PKA and PP2A in Human Platelets.
      Title: Differential Regulation of GPVI-Induced Btk and Syk Activation by PKC, PKA and PP2A in Human Platelets.
    5. Platelet Activation via Glycoprotein VI Initiates Thrombin Generation: A Potential Role for Platelet-Derived Factor IX?
      Title: Platelet Activation via Glycoprotein VI Initiates Thrombin Generation: A Potential Role for Platelet-Derived Factor IX?
    6. GPVI expression is linked to platelet size, age, and reactivity.
      Title: GPVI expression is linked to platelet size, age, and reactivity.
    7. Evidence that GPVI is Expressed as a Mixture of Monomers and Dimers, and that the D2 Domain is not Essential for GPVI Activation.
      Title: Evidence that GPVI is Expressed as a Mixture of Monomers and Dimers, and that the D2 Domain is not Essential for GPVI Activation.
    8. Platelet surface receptor glycoprotein VI-dimer is overexpressed in stroke: The Glycoprotein VI in Stroke (GYPSIE) study results.
      Title: Platelet surface receptor glycoprotein VI-dimer is overexpressed in stroke: The Glycoprotein VI in Stroke (GYPSIE) study results.
    9. Differential Role of Glycoprotein VI in Mouse and Human Thrombus Progression and Stability.
      Title: Differential Role of Glycoprotein VI in Mouse and Human Thrombus Progression and Stability.
    10. Structural characterization of a novel GPVI-nanobody complex reveals a biologically active domain-swapped GPVI dimer.
      Title: Structural characterization of a novel GPVI-nanobody complex reveals a biologically active domain-swapped GPVI dimer.
    Submit: New GeneRIF Correction See all GeneRIFs (184)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Platelet-type bleeding disorder 11
    MedGen: C3280120 OMIM: 614201 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC138168

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables collagen binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables collagen receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein tyrosine kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables transmembrane signaling receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in collagen-activated signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in collagen-activated tyrosine kinase receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in enzyme-linked receptor protein signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in immune response-regulating signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in platelet activation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in platelet aggregation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of positive regulation of platelet aggregation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell surface HDA PubMed 
    located_in extracellular exosome HDA PubMed 
    is_active_in membrane raft IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in tetraspanin-enriched microdomain IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    platelet glycoprotein VI
    Names
    glycoprotein 6
    platelet collagen receptor

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_031963.2 RefSeqGene

      Range
      5001..29560
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_560

    mRNA and Protein(s)

    1. NM_001083899.2 → NP_001077368.2  platelet glycoprotein VI isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB043821, AC011476
      Consensus CDS
      CCDS42626.1
      UniProtKB/Swiss-Prot
      Q9HCN6
      Related
      ENSP00000308782.3, ENST00000310373.7
      Conserved Domains (2) summary
      cd05751
      Location:26 → 108
      Ig1_LILRB1_like; First immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors (LILR)B1 (also known as LIR-1) and similar proteins
      cl11960
      Location:113 → 202
      Ig; Immunoglobulin domain

    2. NM_001256017.2 → NP_001242946.2  platelet glycoprotein VI isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon and uses an alternate splice site in the 3' coding region, compared to variant 1, that results in a frameshift. It encodes isoform 3 which has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AB043820, AC011476
      Consensus CDS
      CCDS58678.1
      UniProtKB/Swiss-Prot
      Q9HCN6
      Related
      ENSP00000334552.2, ENST00000333884.2
      Conserved Domains (2) summary
      cd05751
      Location:26 → 108
      Ig1_LILRB1_like; First immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors (LILR)B1 (also known as LIR-1) and similar proteins
      cl11960
      Location:113 → 202
      Ig; Immunoglobulin domain

    3. NM_016363.5 → NP_057447.5  platelet glycoprotein VI isoform 2 precursor

      See identical proteins and their annotated locations for NP_057447.5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1, that results in a frameshift. It encodes isoform 2 which has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AB043819, AC011476
      Consensus CDS
      CCDS46184.1
      UniProtKB/Swiss-Prot
      Q9HCN6, Q9HCN7, Q9UIF2
      Related
      ENSP00000394922.1, ENST00000417454.5
      Conserved Domains (2) summary
      cd05751
      Location:26 → 108
      Ig1_LILRB1_like; First immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors (LILR)B1 (also known as LIR-1) and similar proteins
      cl11960
      Location:113 → 202
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      55013705..55038264 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003571054.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      917103..941662 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NW_003571055.2 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      658907..683466 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NW_003571056.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      993691..1018250 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NW_003571057.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      1021228..1045787 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NW_003571058.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      995777..1020336 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NW_003571059.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      932070..956629 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NW_003571060.1 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      916487..941046 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_8

    Genomic

    1. NW_003571061.2 Reference GRCh38.p14 ALT_REF_LOCI_8

      Range
      725866..750425 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_9

    Genomic

    1. NT_187693.1 Reference GRCh38.p14 ALT_REF_LOCI_9

      Range
      996187..1020746 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      58107037..58139153 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321151.1 → XP_054177126.1  platelet glycoprotein VI isoform X2

    2. XM_054321150.1 → XP_054177125.1  platelet glycoprotein VI isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HCN6.4 GenPept UniProtKB/Swiss-Prot:Q9HCN6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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