GP6

Protein identityUniProt · HPA

UniProt accession

Q9HCN6

Gene

GP6

Ensembl

ENSG00000088053

Chromosome

19

Canonical length

339 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Plasma membrane

Secretome location

Intracellular and membrane

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

339 residues, UniProt reviewed canonical sequence.

>Q9HCN6|GP6
     1  MSPSPTALFC LGLCLGRVPA QSGPLPKPSL QALPSSLVPL EKPVTLRCQG PPGVDLYRLE
    61  KLSSSRYQDQ AVLFIPAMKR SLAGRYRCSY QNGSLWSLPS DQLELVATGV FAKPSLSAQP
   121  GPAVSSGGDV TLQCQTRYGF DQFALYKEGD PAPYKNPERW YRASFPIITV TAAHSGTYRC
   181  YSFSSRDPYL WSAPSDPLEL VVTGTSVTPS RLPTEPPSPV AEFSEATAEL TVSFTNEVFT
   241  TETSRSITAS PKESDSPAGP ARQYYTKGNL VRICLGAVIL IILAGFLAED WHSRRKRLRH
   301  RGRAVQRPLP PLPPLPLTRK SNGGQDGGRQ DVHSRGLCS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GP6 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.48

Highest tissue expression

2.5 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GP6.

Disease | AllUniProt

Conditions GP6 is implicated in, by any mechanism.

• Bleeding disorder, platelet-type, 11 (BDPLT11) MIM:614201

Disease | GeneticClinVar

19 pathogenic / likely-pathogenic of 349 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Platelet-type bleeding disorder 11

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.61

gnomAD pLI

0

gnomAD missense Z

-0.42

DepMap mean gene effect

0

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• collagen-activated signaling pathway
• collagen-activated tyrosine kinase receptor signaling pathway
• enzyme-linked receptor protein signaling pathway
• immune response-regulating signaling pathway
• platelet activation
• platelet aggregation
• positive regulation of platelet aggregation

Molecular functions

• collagen binding
• collagen receptor activity
• protein tyrosine kinase binding
• signaling receptor activity
• transmembrane signaling receptor activity

Cellular components

• cell surface
• extracellular exosome
• extracellular matrix
• membrane raft
• plasma membrane
• tetraspanin-enriched microdomain

Protein domainsUniProt · Pfam · InterPro

• Immunoglobulin subtype 2
• Immunoglobulin domain subtype
• Immunoglobulin-like fold
• Immunoglobulin-like domain superfamily
• Immunoglobulin-like Receptors in Immune Regulation
• Immunoglobulin domain
• Immunoglobulin domain

KeywordsUniProt

• Blood coagulation
• Cell membrane
• Disulfide bond
• Glycoprotein
• Hemostasis
• Immunoglobulin domain
• Membrane
• Receptor
• Repeat
• Signal
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of GP6 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• COL1A1
• TRAF4
• LYN