Human Gene GP6 (ENST00000310373.7) from GENCODE V44
  Description: Homo sapiens glycoprotein VI platelet (GP6), transcript variant 1, mRNA. (from RefSeq NM_001083899)
RefSeq Summary (NM_001083899): 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].
Gencode Transcript: ENST00000310373.7
Gencode Gene: ENSG00000088053.11
Transcript (Including UTRs)
   Position: hg38 chr19:55,013,705-55,038,264 Size: 24,560 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg38 chr19:55,014,082-55,038,236 Size: 24,155 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:55,013,705-55,038,264)mRNA (may differ from genome)Protein (620 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GPVI_HUMAN
DESCRIPTION: RecName: Full=Platelet glycoprotein VI; Short=GPVI; AltName: Full=Glycoprotein 6; Flags: Precursor;
FUNCTION: Collagen receptor involved in collagen-induced platelet adhesion and activation. Plays a key role in platelet procoagulant activity and subsequent thrombin and fibrin formation. This procoagulant function may contribute to arterial and venous thrombus formation. The signaling pathway involves the FcR gamma- chain, the Src kinases (likely Fyn/Lyn), the adapter protein LAT and leads to the activation of phospholipase C gamma2.
SUBUNIT: Associated with Fc receptor gamma chain. The GPVI- FcRgamma complex is associated with the Src kinase family Fyn and Lyn.
INTERACTION: P07948:LYN; NbExp=2; IntAct=EBI-515278, EBI-79452;
SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass membrane protein.
SUBCELLULAR LOCATION: Isoform 2: Cell membrane; Single-pass membrane protein.
TISSUE SPECIFICITY: Megakaryocytes and platelets.
PTM: N-linked glycosylation at Asn-92 is not required for the cell surface expression, but contributes to maximal adhesion to type I collagen, collagen-related peptide (CRP), and, to a lesser extent, to the snake venom C-type lectin convulxin (CVX).
DISEASE: Defects in GP6 are the cause of bleeding disorder platelet-type 11 (BDPLT11) [MIM:614201]. BDPLT11 is a mild to moderate bleeding disorder caused by defective platelet activation and aggregation in response to collagen.
SIMILARITY: Contains 2 Ig-like C2-type (immunoglobulin-like) domains.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GP6
Diseases sorted by gene-association score: bleeding disorder, platelet-type, 11* (1670), cervical adenosarcoma (4), von willebrand disease, type 1 (4), sticky platelet syndrome (3), myocardial infarction (2), balanoposthitis (2), inverted follicular keratosis (2), gray platelet syndrome (2), cervix uteri carcinoma in situ (2), cervical carcinosarcoma (2), stroke, ischemic (1), tonsil cancer (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.60 RPKM in Testis
Total median expression: 18.45 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -6.4028-0.229 Picture PostScript Text
3' UTR -87.30377-0.232 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013783 - Ig-like_fold
IPR003599 - Ig_sub

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2GI7 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9HCN6
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004888 transmembrane signaling receptor activity
GO:0005515 protein binding
GO:0005518 collagen binding
GO:0038023 signaling receptor activity

Biological Process:
GO:0007167 enzyme linked receptor protein signaling pathway
GO:0007596 blood coagulation
GO:0007599 hemostasis
GO:0030168 platelet activation
GO:0050900 leukocyte migration

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0070062 extracellular exosome
GO:0097197 tetraspanin-enriched microdomain


-  Descriptions from all associated GenBank mRNAs
  AK310288 - Homo sapiens cDNA, FLJ17330.
AB043819 - Homo sapiens GPVI mRNA for platelet glycoprotein VI-1, complete cds.
AB043820 - Homo sapiens GPVI mRNA for platelet glycoprotein VI-2, complete cds.
AB043821 - Homo sapiens GPVI mRNA for platelet glycoprotein VI-3, complete cds.
JD447755 - Sequence 428779 from Patent EP1572962.
JD206806 - Sequence 187830 from Patent EP1572962.
JD536114 - Sequence 517138 from Patent EP1572962.
JD229707 - Sequence 210731 from Patent EP1572962.
JD381684 - Sequence 362708 from Patent EP1572962.
JD041806 - Sequence 22830 from Patent EP1572962.
JD037525 - Sequence 18549 from Patent EP1572962.
JD290519 - Sequence 271543 from Patent EP1572962.
BC069485 - Homo sapiens cDNA clone IMAGE:7262404, containing frame-shift errors.
JD409898 - Sequence 390922 from Patent EP1572962.
BC104832 - Homo sapiens glycoprotein VI (platelet), mRNA (cDNA clone MGC:132492 IMAGE:8143835), complete cds.
BC111963 - Homo sapiens glycoprotein VI (platelet), mRNA (cDNA clone MGC:138168 IMAGE:8327431), complete cds.
AB035073 - Homo sapiens gpVI mRNA for platelet glycoprotein VI, complete cds.
KJ898859 - Synthetic construct Homo sapiens clone ccsbBroadEn_08253 GP6 gene, encodes complete protein.
KR712161 - Synthetic construct Homo sapiens clone CCSBHm_00036331 GP6 (GP6) mRNA, encodes complete protein.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04512 - ECM-receptor interaction

Reactome (by CSHL, EBI, and GO)

Protein Q9HCN6 (Reactome details) participates in the following event(s):

R-HSA-210282 Interaction of GPVI and FceRI gamma
R-HSA-432295 GPVI binds Fyn and Lyn
R-HSA-114577 Binding of GPVI:Fc Epsilon R1 gamma receptor complex with collagen
R-HSA-114600 Fyn/Lyn-mediated phosphorylation of FcR1 gamma
R-HSA-139842 Binding of Syk tyrosine kinase
R-HSA-453183 p-Y348-SYK dissociates
R-HSA-453200 SYK autophosphorylates
R-HSA-75892 Platelet Adhesion to exposed collagen
R-HSA-109582 Hemostasis
R-HSA-202733 Cell surface interactions at the vascular wall
R-HSA-114604 GPVI-mediated activation cascade
R-HSA-76002 Platelet activation, signaling and aggregation

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000310373.1, ENST00000310373.2, ENST00000310373.3, ENST00000310373.4, ENST00000310373.5, ENST00000310373.6, GPVI_HUMAN, NM_001083899, Q9HCN6, Q9HCN7, Q9UIF2, uc002qil.1, uc002qil.2, uc002qil.3, uc002qil.4
UCSC ID: ENST00000310373.7
RefSeq Accession: NM_001083899
Protein: Q9HCN6 (aka GPVI_HUMAN)
CCDS: CCDS42626.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.