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

Summary

Official Symbol: GP1BAprovided by HGNC
Official Full Name: glycoprotein Ib platelet subunit alphaprovided by HGNC
Primary source: HGNC:HGNC:4439
See related: Ensembl:ENSG00000185245 MIM:606672; AllianceGenome:HGNC:4439
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; GPIbalpha; 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. Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease. The coding region of this gene is known to contain a polymophic variable number tandem repeat (VNTR) domain that is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy. [provided by RefSeq, Oct 2013]
Expression: Biased expression in lymph node (RPKM 7.8), spleen (RPKM 2.5) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (4932277..4935023)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (4822661..4825369)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (4835572..4838318)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genetic Polymorphisms of GP1BA, PEAR1, and PAI-1 may be Associated with Serum sIgE and Blood Eosinophil Levels in Chinese Patients with Allergic Diseases.
Title: Genetic Polymorphisms of GP1BA, PEAR1, and PAI-1 may be Associated with Serum sIgE and Blood Eosinophil Levels in Chinese Patients with Allergic Diseases.
GPIbalpha-filamin A interaction regulates megakaryocyte localization and budding during platelet biogenesis.
Title: GPIbα-filamin A interaction regulates megakaryocyte localization and budding during platelet biogenesis.
Integrated Proteomics and Metabolomics Analyses of Serum in Chinese Patients with Severe and Active Graves' Orbitopathy: A Cross-sectional Study.
Title: Integrated Proteomics and Metabolomics Analyses of Serum in Chinese Patients with Severe and Active Graves' Orbitopathy: A Cross-sectional Study.
Low alpha-Thrombin/GPIbalpha Interaction Is a Potential Contributor to Platelet Hyper-reactivity in COVID-19 Patients.
Title: Low α-Thrombin/GPIbα Interaction Is a Potential Contributor to Platelet Hyper-reactivity in COVID-19 Patients.
Comprehensive analysis of platelet glycoprotein Ibalpha ectodomain glycosylation.
Title: Comprehensive analysis of platelet glycoprotein Ibα ectodomain glycosylation.
Biological, clinical features and modelling of heterozygous variants of glycoprotein Ib platelet subunit alpha (GP1BA) and glycoprotein Ib platelet subunit beta (GP1BB) genes responsible for constitutional thrombocytopenia.
Title: Biological, clinical features and modelling of heterozygous variants of glycoprotein Ib platelet subunit alpha (GP1BA) and glycoprotein Ib platelet subunit beta (GP1BB) genes responsible for constitutional thrombocytopenia.
A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome.
Title: A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome.
Predictive Value of Kozak Gene Polymorphism for Thrombosis in Patients with Philadelphia-Negative MPNs.
Title: Predictive Value of Kozak Gene Polymorphism for Thrombosis in Patients with Philadelphia-Negative MPNs.
A fibrinolytic snake venom metalloproteinase, mutalysin-II, with antiplatelet activity and targeting capability toward glycoprotein GPIbalpha and glycoprotein GPVI.
Title: A fibrinolytic snake venom metalloproteinase, mutalysin-II, with antiplatelet activity and targeting capability toward glycoprotein GPIbα and glycoprotein GPVI.
Lower Platelet Aggregation Is a Risk Factor for Dual Antiplatelet Therapy-Associated Bleeding: A Preliminary Retrospective Study with Genotype Analysis.
Title: Lower Platelet Aggregation Is a Risk Factor for Dual Antiplatelet Therapy-Associated Bleeding: A Preliminary Retrospective Study with Genotype Analysis.

Submit: New GeneRIF Correction See all GeneRIFs (188)

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

Associated conditions

Description	Tests
Bernard Soulier syndrome MedGen: C0005129 OMIM: 231200 GeneReviews: Not available	not available
Bernard-Soulier syndrome, type A2, autosomal dominant MedGen: C3277076 OMIM: 153670 GeneReviews: Not available	not available
Nonarteritic anterior ischemic optic neuropathy, susceptibility to MedGen: C1847711 OMIM: 258660 GeneReviews: Not available	not available
Pseudo von Willebrand disease MedGen: C1280798 OMIM: 177820 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide association study of hematological and biochemical traits in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
New gene functions in megakaryopoiesis and platelet formation. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17S1969 (e-PCR)
- UniSTS:14855

PMC17834P1 (e-PCR)
- UniSTS:271649

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

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
acts_upstream_of_or_within blood coagulation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in blood coagulation, intrinsic pathway	IPI Inferred from Physical Interaction more info	PubMed
involved_in blood coagulation, intrinsic pathway	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in cell morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in fibrinolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in megakaryocyte development	ISO Inferred from Sequence Orthology more info
involved_in megakaryocyte development	NAS Non-traceable Author Statement more info	PubMed
involved_in platelet activation	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of leukocyte tethering or rolling	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of platelet activation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of platelet activation	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of blood coagulation	TAS Traceable Author Statement more info	PubMed
involved_in release of sequestered calcium ion into cytosol	IDA Inferred from Direct Assay more info	PubMed
involved_in release of sequestered calcium ion into cytosol	NAS Non-traceable Author Statement more info	PubMed
involved_in thrombin-activated receptor signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell surface	HDA more info	PubMed
colocalizes_with external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
part_of glycoprotein Ib-IX-V complex	IPI Inferred from Physical Interaction more info	PubMed
part_of glycoprotein Ib-IX-V complex	NAS Non-traceable Author Statement more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: platelet glycoprotein Ib alpha chain

Names: GP-Ib alpha; antigen CD42b-alpha; glycoprotein Ib (platelet), alpha polypeptide; glycoprotein Ib platelet alpha subunit; mutant platelet membrane glycoprotein Ib-alpha; platelet membrane glycoprotein 1b-alpha subunit; platelet membrane glycoprotein Ib-alpha

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

4983..7729

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_480

mRNA and Protein(s)

NM_000173.7 → NP_000164.5 platelet glycoprotein Ib alpha chain precursor

See identical proteins and their annotated locations for NP_000164.5

Status: REVIEWED

Source sequence(s)

BC027955, HY099146, KC120774

Consensus CDS

CCDS54068.1

UniProtKB/Swiss-Prot

E7ES66, P07359, Q14441, Q16469, Q8N1F3, Q8NG39, Q9HDC7, Q9UEK1, Q9UQS4

UniProtKB/TrEMBL

E0D851

Related

ENSP00000329380.5, ENST00000329125.6

Conserved Domains (6) summary

smart00013
Location:19 → 50

LRRNT; Leucine rich repeat N-terminal domain

smart00082
Location:221 → 281

LRRCT; Leucine rich repeat C-terminal domain

cd00116
Location:51 → 200

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00031
Location:213 → 225

LRR_1; leucine-rich repeat [structural motif]

sd00033
Location:30 → 48

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:116 → 176

LRR_8; Leucine rich repeat