GP6 glycoprotein VI platelet [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Glycoprotein VI interplay with fibrin(ogen) in thrombosis.
Title: Glycoprotein VI interplay with fibrin(ogen) in thrombosis.
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.
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?
GPVI expression is linked to platelet size, age, and reactivity.
Title: GPVI expression is linked to platelet size, age, and reactivity.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-67307 (e-PCR)
- UniSTS:89991

NoName (e-PCR)
- UniSTS:483725

D19S418 (e-PCR), detects polymorphism
- UniSTS:8862

D19S418 (e-PCR), detects polymorphism
- UniSTS:22977

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 more info	PubMed
located_in extracellular exosome	HDA more info	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

NG_031963.2 RefSeqGene

Range

5001..29560

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_560

mRNA and Protein(s)

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
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
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