GP1BA glycoprotein Ib (platelet), alpha polypeptide [Homo sapiens (human)] - Gene

Summary

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Official Symbol: GP1BAprovided by HGNC
Official Full Name: glycoprotein Ib (platelet), alpha polypeptideprovided by HGNC
Primary source: HGNC:4439
See related: Ensembl:ENSG00000185245; HPRD:01976; MIM:606672; Vega:OTTHUMG00000177946
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BSS; GP1B; VWDP; CD42B; GPIbA; BDPLT1; BDPLT3; DBPLT3; CD42b-alpha
Summary: Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Several polymorphisms and mutations have been described in this gene, some of which are the cause of Bernard-Soulier syndromes and platelet-type von Willebrand disease. [provided by RefSeq, Mar 2010]

Genomic context

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Location :: 17pter-p12

Sequence :: Chromosome: 17; NC_000017.10 (4835592..4838325)

See GP1BA in Epigenomics, MapViewer

Chromosome 17 - NC_000017.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

identify a novel Asp235Tyrmutation in the GP1BA gene of two Iranian patients showing the PT-VWD phenotype who were originally misdiagnosed as type 2B VWD
Title: A novel D235Y mutation in the GP1BA gene enhances platelet interaction with von Willebrand factor in an Iranian family with platelet-type von Willebrand disease.
GPIX increased the expression of GPIba by promoting the formation of a disulfide bond between GPIba and GPIbb in transfected CHO-K1 cells.
Title: Platelets with a W127X mutation in GPIX express sufficient residual amounts of GPIbα to support adhesion to von Willebrand factor and collagen.
Data indicate that exposure of von Willebrand factor sites for glycoprotein Ibalpha binding and ADAMTS13 cleavage are coupled.
Title: Simultaneous exposure of sites in von Willebrand factor for glycoprotein Ib binding and ADAMTS13 cleavage: studies with ristocetin.
The T1255A, Clus1, and DC variants caused increased ristocetin-mediated GPIbalpha binding to VWF.
Title: O-linked glycosylation of von Willebrand factor modulates the interaction with platelet receptor glycoprotein Ib under static and shear stress conditions.
these data demonstrate that coordinated expression of GPIbalpha and filamin is required for efficient trafficking of either protein to the cell surface, and for production of normal-sized platelets.
Title: GPIbα regulates platelet size by controlling the subcellular localization of filamin.
monoallelic Ala156Val mutation of GPIbalpha (Bolzano mutation) is the most frequent cause of inherited thrombocytopenia in Italy.
Title: Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation).
GPIb-alpha T/C polymorphism might increase the risk of ischemic stroke, especially in those with undetermined etiology.
Title: Glycoprotein Ib-alpha Kozak polymorphism in ischemic stroke.
the c.386A>G mutation disrupted an exon splicing enhancer motif involved in the proper maturation of the GPIbalpha transcript.
Title: A A386G biallelic GPIbα gene mutation with anomalous behavior: a new mechanism suggested for Bernard-Soulier syndrome pathogenesis.
Studies indicate that the inherent platelet function defect is due to a gain-of-function mutation within the GP1BA gene coding for the platelet surface glycoprotein Ib alpha protein, the receptor for the adhesive protein von Willebrand factor (VWF).
Title: Platelet-type von Willebrand disease: a rare, often misdiagnosed and underdiagnosed bleeding disorder.
Report glycoprotein Ib/IX complex mutations found in Bernard-Soulier syndrome in Indian patients.
Title: Molecular basis of Bernard-Soulier syndrome in 27 patients from India.

Submit: New GeneRIF Correction See all (138)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Bernard-Soulier syndrome, type A2, autosomal dominant

MIM: 153670

Genetic Testing Registry

Nonarteritic anterior ischemic optic neuropathy, susceptibility to

MIM: 258660

Genetic Testing Registry

NHGRI GWAS Catalog

New gene functions in megakaryopoiesis and platelet formation.

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
P07359	P08311	CTSG	HPRD	PubMed
P07359	P00748	F12	HPRD	PubMed
P07359	P00734	F2	HPRD	PubMed
P07359	P21333	FLNA	HPRD	PubMed
P07359	O75369	FLNB	HPRD	PubMed
P07359	P07359	GP1BA	HPRD	PubMed
P07359	P40197	GP5	HPRD	PubMed
P07359	P14770	GP9	HPRD	PubMed
P07359	P11215	ITGAM	HPRD	PubMed
P07359	P01042	KNG1	HPRD	PubMed
P07359	Q9NPF4	OSGEP	HPRD	PubMed
P07359	P16109	SELP	HPRD	PubMed
P07359	O60507	TPST1	HPRD	PubMed
P07359	P04275	VWF	HPRD	PubMed
P07359	P63104	YWHAZ	HPRD	PubMed
BioGRID:109073	BioGRID:108016	DDIT3	BioGRID	PubMed	Two-hybrid
BioGRID:109073	BioGRID:108459	F12	BioGRID	PubMed	Reconstituted Complex
BioGRID:109073	BioGRID:108605	FLNA	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109073	BioGRID:108606	FLNB	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:109073	BioGRID:109076	GP5	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109073	BioGRID:112303	SELP	BioGRID	PubMed	Reconstituted Complex
BioGRID:109073	BioGRID:113289	VWF	BioGRID	PubMed	Co-crystal Structure
BioGRID:109073	BioGRID:113366	YWHAZ	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid

Pathways from BioSystems

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ECM-receptor interaction, organism-specific biosystem (from KEGG)
ECM-receptor interaction, organism-specific biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
ECM-receptor interaction, conserved biosystem (from KEGG)
ECM-receptor interaction, conserved biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
Formation of Fibrin Clot (Clotting Cascade), organism-specific biosystem (from REACTOME)
Formation of Fibrin Clot (Clotting Cascade), organism-specific biosystemThe formation of a fibrin clot at the site of an injury to the wall of a normal blood vessel is an essential part of the process to stop blood loss after vascular injury. The reactions that lead to ...
GP1b-IX-V activation signalling, organism-specific biosystem (from REACTOME)
GP1b-IX-V activation signalling, organism-specific biosystemThe platelet GPIb complex (GP1b-IX-V) together with GPVI are primarily responsible for regulating the initial adhesion of platelets to the damaged blood vessel and platelet activation. The importance...
Hematopoietic cell lineage, organism-specific biosystem (from KEGG)
Hematopoietic cell lineage, organism-specific biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
Hematopoietic cell lineage, conserved biosystem (from KEGG)
Hematopoietic cell lineage, conserved biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
Hemostasis, organism-specific biosystem (from REACTOME)
Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
Intrinsic Pathway, organism-specific biosystem (from REACTOME)
Intrinsic Pathway, organism-specific biosystemThe intrinsic pathway of blood clotting connects interactions among kininogen (high molecular weight kininogen, HK), prekallikrein (PK), and factor XII to the activation of clotting factor X by a ser...
Platelet Adhesion to exposed collagen, organism-specific biosystem (from REACTOME)
Platelet Adhesion to exposed collagen, organism-specific biosystemInitiation of platelet adhesion is the first step in the formation of the platelet plug. Circulating platelets are arrested and subsequently activated by exposed collagen and vWF. It is not entirely ...
Platelet Aggregation (Plug Formation), organism-specific biosystem (from REACTOME)
Platelet Aggregation (Plug Formation), organism-specific biosystemThe tethering of platelets to the site of vascular injury is the first step in the formation of a platelet thrombus. Firm adhesion of these tethered platelets, as well as the additional recruitment o...
Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
amb2 Integrin signaling, organism-specific biosystem (from Pathway Interaction Database)
amb2 Integrin signaling, organism-specific biosystem
amb2 Integrin signaling

General gene information

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Markers

D17S1969 (e-PCR)
- UniSTS:14855

PMC17834P1 (e-PCR)
- UniSTS:271649

STS-J02940 (e-PCR)
- UniSTS:24162

Genotypes

See GP1BA SNP Geneview Report
See GP1BA SNP Genotype Report
See GP1BA SNP Variation Viewer Report

Homology

Homologs of the GP1BA gene: The GP1BA gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, and chicken.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
protein binding	IPI Inferred from Physical Interaction more info	PubMed
thrombin receptor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
blood coagulation	IMP Inferred from Mutant Phenotype more info
blood coagulation	TAS Traceable Author Statement more info
blood coagulation, intrinsic pathway	TAS Traceable Author Statement more info
cell adhesion	IDA Inferred from Direct Assay more info	PubMed
cell morphogenesis	IEA Inferred from Electronic Annotation more info
cell surface receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
fibrinolysis	IDA Inferred from Direct Assay more info	PubMed
platelet activation	TAS Traceable Author Statement more info	PubMed
regulation of blood coagulation	TAS Traceable Author Statement more info	PubMed
thrombin receptor signaling pathway	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
colocalizes_with anchored to external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
integral to plasma membrane	TAS Traceable Author Statement more info	PubMed
membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: platelet glycoprotein Ib alpha chain

Names: platelet glycoprotein Ib alpha chain; GP-Ib alpha; antigen CD42b-alpha; platelet membrane glycoprotein 1b-alpha subunit

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008767.2 RefSeqGene

Range

5003..7736

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000173.5 → NP_000164.5 platelet glycoprotein Ib alpha chain precursor

Status: REVIEWED

Source sequence(s)

AC233723

Consensus CDS

CCDS54068.1

UniProtKB/TrEMBL

E7ES66

Related

ENSP00000329380, OTTHUMP00000258165, ENST00000329125, OTTHUMT00000439889

Conserved Domains (5) summary

smart00013
Location:19 – 50
Blast Score: 112

LRRNT; Leucine rich repeat N-terminal domain

smart00082
Location:221 – 281
Blast Score: 102

LRRCT; Leucine rich repeat C-terminal domain

cl15310
Location:115 – 138
Blast Score: 78

LRR_TYP; Leucine-rich repeats, typical (most populated) subfamily

pfam12799
Location:71 – 111
Blast Score: 87

LRR_4; Leucine Rich repeats (2 copies)

pfam13855
Location:95 – 150
Blast Score: 119

LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000017.10 Reference GRCh37.p10 Primary Assembly

Range

4835592..4838325

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000149.1 Alternate HuRef

Range

4723218..4725913

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018928.1 Alternate CHM1_1.0

Range

4822767..4825501

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AB038516.1	BAB12038.1
genomic	AB086948.1	BAC10305.1
genomic	AB576651.1	BAJ15417.1
genomic	AB576652.1	BAJ15418.1
genomic	AB576653.1	BAJ15419.1
genomic	AB576654.1	BAJ15420.1
genomic	AB576655.1	BAJ15421.1
genomic	ABBA01054784.1 (6425..9120)	None
genomic	AC109333.28 (147673..150368)	None
genomic	AC233723.2 (641..3374)	None
genomic	AF395009.1	AAK71325.1
genomic	AM709890.1	CAM97225.1
genomic	AMYH01008043.1 (102096..104830)	None
genomic	CH471108.2	EAW90393.1
genomic	D85894.1	BAA12911.1
genomic	GU133003.1	ACY72565.1
genomic	L39103.1	AAA69491.1
genomic	M22403.1	AAA52596.1
genomic	S34436.1	AAB22152.1
genomic	S34439.1	AAB22153.1
mRNA	BC027955.1	AAH27955.1
mRNA	BE463855.1	None
mRNA	J02940.1	AAA52595.1
other-genetic	DQ890943.2	ABM81869.1
other-genetic	DQ894105.2	ABM85031.1