Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

GP1BB

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

HGNC name	glycoprotein Ib (platelet), beta polypeptide
HGNC id	4440

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	GP1BB giant platelet disorder 1B
Location	22q11.21      Physical location : 19.711.065 - 19.712.297
Synonym name	CD42c antigen
	glycoprotein Ib, beta polypeptide
	nuclear localization signal deleted in velocardiofacial
	syndrome
Synonym symbol(s)	CD42c, GPIb-beta, GPIbB

DNA

TYPE	functioning gene
SPECIAL FEATURE	overlapping, gene in gene
text	overlapping the 3'utr of PNUTL1 in the same orientation
STRUCTURE	2.35 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	a transcript of 3.5kb starting 5' up GPIBB it using its polyadenylation signal (see PNUTL1)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000407 2 - 958 NP_000398 - 206 - Kroll (1991)

EXPRESSION

Type

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         Endocrine pancreas       highly Nervous brain       highly Respiratory lung         Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic         Epithelial barrier/lining       Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic platelet Cardiovascular endothelial cell

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 GP9ubunits 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

heteromer , dimer

HOMOLOGY

interspecies	ortholog to murine Gp1bb
	homolog to C.elegans ZK994.4

Homologene

FAMILY

leucine-rich glycoprotein family

CATEGORY

adhesion , receptor membrane

SUBCELLULAR LOCALIZATION	plasma membrane
text	type I membrane protein

basic FUNCTION	involved in adhesion of a damaged vessel wall to the extra cellular matrix
	constituting the receptor for von Willebrand factor (VWF) and mediating platelet adhesion in the arterial circulation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

coagulation/hemostasis

PATHWAY

metabolism

signaling

a component	component of the GP1b complex (von Willebrand receptor) where it is linked to GP1BA through disulfide bonds and non covalently to GP5 and GP9
	a heterodimeric transmembrane protein consisting of a disulfide-linked 140 kD alpha chain and 22 kD beta chain

INTERACTION

DNA

RNA

small molecule

protein

interacting with GP9 (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)

GP1BB

related resource

Bernard-Soulier Syndrome database

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS