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GP6 glycoprotein VI platelet [ Homo sapiens (human) ]

Gene ID: 51206, updated on 17-Sep-2024

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; 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
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Genomic context

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

Expression

  • Project title: HPA RNA-seq normal tissues 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 Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 

General protein information

Preferred Names
platelet glycoprotein VI
Names
glycoprotein 6
platelet collagen receptor

NCBI Reference Sequences (RefSeq)

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_001083899.2NP_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, Q9HCN7, Q9UIF2
    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: 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_054321151.1XP_054177126.1  platelet glycoprotein VI isoform X2

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