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FLASH GENE

Symbol

GP9

contributors: npt/mct - updated : 24-02-2010

HGNC name	glycoprotein IX (platelet)
HGNC id	4444

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	GP1BC giant platelet syndrome 1C
Location	3q21.3      Physical location : 128.779.644 - 128.781.253
Synonym name	CD42a antigen
Synonym symbol(s)	CD42a, GPIX

DNA

TYPE	functioning gene
STRUCTURE	1.61 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000174 3 - 858 NP_000165 - 177 - Luo (2008)

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       moderately Respiratory lung       lowly Visual eye       lowly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic platelet

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		Hydrophobic
STRUCTURE

motifs/domains	a N terminal signal peptide
	one extracellular leucine-rich domain (LRD)
	ectodomains of both GP1BB and GP9subunits contain two leucine-rich repeats (LRR) and share high sequence similarity (Mo 2009)
	a hydrophobic transmembrane domain near the C terminus

conjugated

GlycoP

mono polymer

complex

HOMOLOGY

interspecies

ortholog to murine Gp9

Homologene

FAMILY

leucine-rich glycoprotein family

CATEGORY

adhesion , receptor membrane

SUBCELLULAR LOCALIZATION	plasma membrane
text	integral to plasma membrane, type I membrane protein

basic FUNCTION	GP1b complex involved in adhesion of a damaged vessel wall to the extra cellular matrix
	functioning as a receptor for von Willebrand factor

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

coagulation/hemostasis

PATHWAY

metabolism

signaling

a component

component of the von Willebrand receptor where it is non covalently bound to the GP1B complex (heterodimer composed of disulfide linked GP-Ib alpha and beta)

INTERACTION

DNA

RNA

small molecule

protein	target gene for FLI1
	interacting with GP1BB (putative convex surface of the LRR domain in GP9 is sufficient, in the context of full-length subunit, to mediate its association with GP1BB) (Mo 2009)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

GP1BC

related resource

Bernard-Soulier Syndrome database

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS