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

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Summary

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
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; MGC34595
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]

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Genomic context

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

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

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

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.
GPIIb/IIIa is the primary receptor set involved in platelet adhesion to adsorbed fibrinogen and serum albumin irrespective of their degree of adsorption-induced unfolding, while the GPIb-IX-V receptor complex plays an insignificant role.
Title: Delineating the roles of the GPIIb/IIIa and GP-Ib-IX-V platelet receptors in mediating platelet adhesion to adsorbed fibrinogen and albumin.
These outcomes strongly support a role of the GPIb-IX-V complex in the interactions of modified C-reactive protein with blood platelets
Title: Modified C-reactive protein interacts with platelet glycoprotein Ibα.
GP Ibbeta/GP IX mediates the disulfide-linked GP Ibalpha localization to the GEMs, which is critical for vWf interaction at high shear
Title: Platelet glycoprotein Ib beta/IX mediates glycoprotein Ib alpha localization to membrane lipid domain critical for von Willebrand factor interaction at high shear.
the functional interactions between SSL5 and platelets, including the novel finding of a role for the GPVI receptor
Title: GPVI and GPIbα mediate staphylococcal superantigen-like protein 5 (SSL5) induced platelet activation and direct toward glycans as potential inhibitors.

Submit: New GeneRIF Correction See all (134)

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Phenotypes

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 A1 (recessive)

MIM: 231200

Bernard-Soulier syndrome, type A2 (dominant)

MIM: 153670

Genome-wide association study of hematological and biochemical traits in a Japanese population.

Nonarteritic anterior ischemic optic neuropathy, susceptibility to

MIM: 258660

von Willebrand disease, platelet-type

MIM: 177820

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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: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

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	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 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
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
integral to plasma membrane	TAS Traceable Author Statement more info	PubMed
membrane fraction	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

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

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NCBI Reference Sequences (RefSeq)

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, ENST00000329125

Conserved Domains (5) summary

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

cl02423
Location:19 – 50
Blast Score: 112

LRRNT; Leucine rich repeat N-terminal domain

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000017.10 Reference GRCh37.p5 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)

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Related Sequences

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	AC109333.28 (147672..150367)	None
genomic	AC233723.2 (640..3373)	None
genomic	AF395009.1	AAK71325.1
genomic	AM709890.1	CAM97225.1
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