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FLASH GENE

Symbol

GP1BA

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

HGNC name	glycoprotein Ib (platelet), alpha polypeptide
HGNC id	4439

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	GP1BA giant platelet syndrome 1A PVWD platelet-type von Willebrand disease
Location	17p13.2      Physical location : 4.835.591 - 4.838.324
Synonym name	platelet membrane glycoprotein 1b-alpha subunit
	CD42b antigen
	GP-Ib alpha
Synonym symbol(s)	BSS, GP1B, CD42B, MGC34595, CD42b-alpha, GPIb-alpha

DNA

TYPE	functioning gene
STRUCTURE	2.73 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000173 3 - 2463 NP_000164 - 639 - Kunicki (2009)

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 Respiratory lung

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic platelet

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal signal peptide
	a calpain cleavage site (giving use to glycocalicin)
	several O-glycosylation sites,seven leucine-rich repeats and a hydrophobic transmembrane domain near the C terminus

conjugated

GlycoP

HOMOLOGY

Homologene

FAMILY

leucine-rich glycoprotein family

CATEGORY

receptor

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION

GP1b complex involved in adhesion of a damaged vessel wall to the extra cellular matrix

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

component of the GP1b complex (von Willebrand receptor) where it is linked to GP1BB through disulfide bonds non covalently to GP6 and GP9

INTERACTION

DNA

RNA

small molecule

protein	binding VWF through its domain A1 and A3
	interacting with FLNA

cell & other

REGULATION

Other

adhesive function is regulated by its anchorage to the membrane skeleton through a specific interaction with filamin A

ASSOCIATED DISORDERS

corresponding disease(s)

GP1BA , PVWD

Susceptibility

to development of retinopathy of prematurity (ROP)

Variant & Polymorphism SNP	association between SNPs and the development of ROP

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS