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GP6 glycoprotein VI platelet [ Homo sapiens (human) ]

Gene ID: 51206, updated on 20-Jan-2019

Summary

Official Symbol
GP6provided by HGNC
Official Full Name
glycoprotein VI plateletprovided by HGNC
Primary source
HGNC:HGNC:14388
See related
Ensembl:ENSG00000088053 MIM:605546
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

Genomic context

See GP6 in Genome Data Viewer
Location:
19q13.42
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (55013705..55038264, complement)
105 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 NLR family pyrin domain containing 7 Neighboring gene ribosomal protein L36a pseudogene 50 Neighboring gene NLR family pyrin domain containing 2 Neighboring gene uncharacterized LOC107985325 Neighboring gene retinol dehydrogenase 13 Neighboring gene EPS8 like 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Cell surface interactions at the vascular wall, organism-specific biosystem (from REACTOME)
    Cell surface interactions at the vascular wall, organism-specific biosystemLeukocyte extravasation is a rigorously controlled process that guides white cell movement from the vascular lumen to sites of tissue inflammation. The powerful adhesive interactions that are require...
  • ECM-receptor interaction, organism-specific biosystem (from KEGG)
    ECM-receptor interaction, organism-specific biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
  • ECM-receptor interaction, conserved biosystem (from KEGG)
    ECM-receptor interaction, conserved biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
  • GPVI-mediated activation cascade, organism-specific biosystem (from REACTOME)
    GPVI-mediated activation cascade, organism-specific biosystemThe GPVI receptor is a complex of the GPVI protein with Fc epsilon R1 gamma (FcR). The Src family kinases Fyn and Lyn constitutively associate with the GPVI-FcR complex in platelets and initiate plat...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Platelet Adhesion to exposed collagen, organism-specific biosystem (from REACTOME)
    Platelet Adhesion to exposed collagen, organism-specific biosystemInitiation of platelet adhesion is the first step in the formation of the platelet plug. Circulating platelets are arrested and subsequently activated by exposed collagen and vWF. It is not entirely ...
  • Platelet activation, organism-specific biosystem (from KEGG)
    Platelet activation, organism-specific biosystemPlatelets play a key and beneficial role for primary hemostasis on the disruption of the integrity of vessel wall. Platelet adhesion and activation at sites of vascular wall injury is initiated by ad...
  • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
    Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138168

Gene Ontology Provided by GOA

Function Evidence Code Pubs
collagen binding TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
transmembrane signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
blood coagulation TAS
Traceable Author Statement
more info
 
enzyme linked receptor protein signaling pathway TAS
Traceable Author Statement
more info
PubMed 
leukocyte migration TAS
Traceable Author Statement
more info
 
platelet activation NAS
Non-traceable Author Statement
more info
PubMed 
platelet activation TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
platelet glycoprotein VI
Names
glycoprotein 6
platelet collagen receptor

NCBI Reference Sequences (RefSeq)

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_001083899.2NP_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:26108
    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:113202
    Ig; Immunoglobulin domain
  2. NM_001256017.2NP_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:26108
    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:113202
    Ig; Immunoglobulin domain
  3. NM_016363.5NP_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
    Related
    ENSP00000394922.1, ENST00000417454.5
    Conserved Domains (2) summary
    cd05751
    Location:26108
    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:113202
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

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

Reference GRCh38.p12 ALT_REF_LOCI_1

Genomic

  1. NW_003571054.1 Reference GRCh38.p12 ALT_REF_LOCI_1

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

Reference GRCh38.p12 ALT_REF_LOCI_2

Genomic

  1. NW_003571055.2 Reference GRCh38.p12 ALT_REF_LOCI_2

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

Reference GRCh38.p12 ALT_REF_LOCI_3

Genomic

  1. NW_003571056.2 Reference GRCh38.p12 ALT_REF_LOCI_3

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

Reference GRCh38.p12 ALT_REF_LOCI_4

Genomic

  1. NW_003571057.2 Reference GRCh38.p12 ALT_REF_LOCI_4

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

Reference GRCh38.p12 ALT_REF_LOCI_5

Genomic

  1. NW_003571058.2 Reference GRCh38.p12 ALT_REF_LOCI_5

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

Reference GRCh38.p12 ALT_REF_LOCI_6

Genomic

  1. NW_003571059.2 Reference GRCh38.p12 ALT_REF_LOCI_6

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

Reference GRCh38.p12 ALT_REF_LOCI_7

Genomic

  1. NW_003571060.1 Reference GRCh38.p12 ALT_REF_LOCI_7

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

Reference GRCh38.p12 ALT_REF_LOCI_8

Genomic

  1. NW_003571061.2 Reference GRCh38.p12 ALT_REF_LOCI_8

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

Reference GRCh38.p12 ALT_REF_LOCI_9

Genomic

  1. NT_187693.1 Reference GRCh38.p12 ALT_REF_LOCI_9

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