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GP6 glycoprotein VI platelet [ Homo sapiens (human) ]

Gene ID: 51206, updated on 11-Apr-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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Location:
19q13.42
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (55013705..55038264, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (58107037..58139153, complement)
105.20220307 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. GPVI expression is linked to platelet size, age, and reactivity. Veninga A, et al. Blood Adv, 2022 Jul 26. PMID 35561312, Free PMC Article
  2. Platelet surface receptor glycoprotein VI-dimer is overexpressed in stroke: The Glycoprotein VI in Stroke (GYPSIE) study results. Induruwa I, et al. PLoS One, 2022. PMID 35041713, Free PMC Article
  3. Dimers of the platelet collagen receptor glycoprotein VI bind specifically to fibrin fibers during clot formation, but not to intact fibrinogen. Moroi M, et al. J Thromb Haemost, 2021 Aug. PMID 34032355
  4. Acquired platelet GPVI receptor dysfunction in critically ill patients with sepsis. Weiss LJ, et al. Blood, 2021 Jun 3. PMID 33827131
  5. Long-term platelet priming after glycoprotein VI stimulation in comparison to Protease-Activating Receptor (PAR) stimulation. Zou J, et al. PLoS One, 2021. PMID 33657162, Free PMC Article

See all (218) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. Glycoprotein VI interplay with fibrin(ogen) in thrombosis.
    Title: Glycoprotein VI interplay with fibrin(ogen) in thrombosis.
  3. 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.
  4. 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?
  5. GPVI expression is linked to platelet size, age, and reactivity.
    Title: GPVI expression is linked to platelet size, age, and reactivity.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. Acquired platelet GPVI receptor dysfunction in critically ill patients with sepsis.
    Title: Acquired platelet GPVI receptor dysfunction in critically ill patients with sepsis.
Submit: New GeneRIF Correction See all GeneRIFs (183)

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)

Genotypes

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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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_2023_10

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

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