GP9

Protein identityUniProt · HPA

UniProt accession

P14770

Gene

GP9

Ensembl

ENSG00000169704

Chromosome

3

Canonical length

177 aa

Protein class

CD markers, Disease related genes, Human disease related genes, Predicted membrane proteins

Subcellular location

Nucleoplasm,Plasma membrane,Cytosol

OverviewNCBI Gene

This gene encodes a small membrane glycoprotein found on the surface of human platelets. It forms a 1-to-1 noncovalent complex with glycoprotein Ib, a platelet surface membrane glycoprotein complex that functions as a receptor for von Willebrand factor. The complete receptor complex includes noncovalent association of the alpha and beta subunits with the protein encoded by this gene and platelet glycoprotein V. Defects in this gene are a cause of Bernard-Soulier syndrome, also known as giant platelet disease. These patients have unusually large platelets and have a clinical bleeding tendency. [provided by RefSeq, Oct 2008]

Canonical amino-acid sequenceUniProt

177 residues, UniProt reviewed canonical sequence.

>P14770|GP9
     1  MPAWGALFLL WATAEATKDC PSPCTCRALE TMGLWVDCRG HGLTALPALP ARTRHLLLAN
    61  NSLQSVPPGA FDHLPQLQTL DVTQNPWHCD CSLTYLRLWL EDRTPEALLQ VRCASPSLAA
   121  HGPLGRLTGY QLGSCGWQLQ ASWVRPGVLW DVALVAVAAL GLALLAGLLC ATTEALD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GP9 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)

0.39

Highest tissue expression

8.8 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GP9.

Disease | AllUniProt

Conditions GP9 is implicated in, by any mechanism.

• Bernard-Soulier syndrome (BSS) MIM:231200

Disease | GeneticClinVar

29 pathogenic / likely-pathogenic of 169 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Bernard Soulier syndrome
• Bernard-Soulier syndrome type C
• Macrothrombocytopenia
• Thrombocytopenia
• GP9-related disorder

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)

1.46

gnomAD pLI

0.48

gnomAD missense Z

0.16

DepMap mean gene effect

-0.05

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• blood coagulation
• blood coagulation, intrinsic pathway
• cell adhesion
• megakaryocyte development
• positive regulation of platelet activation
• release of sequestered calcium ion into cytosol

Cellular components

• glycoprotein Ib-IX-V complex
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Leucine-rich repeat N-terminal domain
• Cysteine-rich flanking region, C-terminal
• Leucine-rich repeat
• Leucine-rich repeat domain superfamily
• Platelet Glycoprotein Ib-IX-V Complex
• Leucine rich repeat N-terminal domain
• Leucine rich repeat

KeywordsUniProt

• Bernard Soulier syndrome
• Blood coagulation
• Cell adhesion
• Disulfide bond
• Glycoprotein
• Hemostasis
• Leucine-rich repeat
• Membrane
• Signal
• Transmembrane
• Transmembrane helix