GP1BB glycoprotein Ib platelet subunit beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: GP1BBprovided by HGNC
Official Full Name: glycoprotein Ib platelet subunit betaprovided by HGNC
Primary source: HGNC:HGNC:4440
See related: Ensembl:ENSG00000203618 MIM:138720; AllianceGenome:HGNC:4440
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: BS; CD42C; GPIBB; BDPLT1; GPIbbeta
Summary: Platelet glycoprotein Ib (GPIb) is a heterodimeric transmembrane protein consisting of a disulfide-linked 140 kD alpha chain and 22 kD beta chain. It is part of the GPIb-V-IX system that constitutes the receptor for von Willebrand factor (VWF), and mediates platelet adhesion in the arterial circulation. GPIb alpha chain provides the VWF binding site, and GPIb beta contributes to surface expression of the receptor and participates in transmembrane signaling through phosphorylation of its intracellular domain. Mutations in the GPIb beta subunit have been associated with Bernard-Soulier syndrome, velocardiofacial syndrome and giant platelet disorder. The 206 amino acid precursor of GPIb beta is synthesized from a 1.0 kb mRNA expressed in plateletes and megakaryocytes. A 411 amino acid protein arising from a longer, unspliced transcript in endothelial cells has been described; however, the authenticity of this product has been questioned. Yet another less abundant GPIb beta mRNA species of 3.5 kb, expressed in nonhematopoietic tissues such as endothelium, brain and heart, was shown to result from inefficient usage of a non-consensus polyA signal in the neighboring upstream gene (SEPT5, septin 5). In the absence of polyadenylation from its own imperfect site, the SEPT5 gene produces read-through transcripts that use the consensus polyA signal of this gene. [provided by RefSeq, Dec 2010]
Expression: Biased expression in brain (RPKM 9.9), skin (RPKM 3.4) and 10 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q11.21

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (19723539..19724771)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (20100330..20101562)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (19711062..19712294)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

GP1BB c.179C > T is the most frequent cause of monoallelic Bernard-Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families.
Title: GP1BB c.179C > T is the most frequent cause of monoallelic Bernard-Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families.
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 novel frameshift GP1BB mutation causes autosomal dominant macrothrombocytopenia with decreased vWF receptor expression but normal platelet aggregation.
Title: A novel frameshift GP1BB mutation causes autosomal dominant macrothrombocytopenia with decreased vWF receptor expression but normal platelet aggregation.
A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbbeta in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly.
Title: A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly.
A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia.
Title: A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia.
High prevalence of the natural Asn89Asp mutation in the GP1BB gene associated with Bernard-Soulier syndrome in French patients from the genetic isolate of Reunion Island.
Title: High prevalence of the natural Asn89Asp mutation in the GP1BB gene associated with Bernard-Soulier syndrome in French patients from the genetic isolate of Reunion Island.
GPIBB hemizygosity does not result in either macrothrombocytopenia or bleeding in patients with 22q11 deletion syndrome.
Title: Hemizygosity for the gene encoding glycoprotein Ibβ is not responsible for macrothrombocytopenia and bleeding in patients with 22q11 deletion syndrome.
New heterozygous variant in GP1BB gene is responsible for an inherited form of macrothrombocytopenia.
Title: New heterozygous variant in GP1BB gene is responsible for an inherited form of macrothrombocytopenia.
loss of CD34 and expression of CD42b define cells capable of factor V endocytosis and trafficking to proplatelet extensions during differentiation of megakaryocytes ex vivo from progenitor cells isolated from umbilical cord blood
Title: Endocytosed factor V is trafficked to CD42b(+) proplatelet extensions during differentiation of human umbilical cord blood-derived megakaryocytes.
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.
Title: Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

Submit: New GeneRIF Correction See all GeneRIFs (45)

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	Compare labs

EBI GWAS Catalog

Description
GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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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

RH15728 (e-PCR)
- UniSTS:89930

NoName (e-PCR)
- UniSTS:494724

Readthrough SEPT5-GP1BB

Readthrough gene: SEPT5-GP1BB, Included gene: SEPTIN5

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane signaling receptor activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
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
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor signaling pathway	NAS Non-traceable Author Statement 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	NAS Non-traceable Author Statement more info	PubMed
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 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

Component	Evidence Code	Pubs
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 plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: platelet glycoprotein Ib beta chain

Names: GP-Ib beta; antigen CD42b-beta; glycoprotein Ib (platelet), beta polypeptide; glycoprotein Ib platelet beta subunit; nuclear localization signal deleted in velocardiofacial syndrome; platelet membrane glycoprotein Ib beta

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_007974.1 RefSeqGene

Range

5001..6232

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_478

mRNA and Protein(s)

NM_000407.5 → NP_000398.1 platelet glycoprotein Ib beta chain precursor

See identical proteins and their annotated locations for NP_000398.1

Status: REVIEWED

Source sequence(s)

AC000093

Consensus CDS

CCDS42980.1

UniProtKB/Swiss-Prot

P13224, Q14422, Q8NG40

UniProtKB/TrEMBL

A0A140GX60, A0A140GX63

Related

ENSP00000383382.2, ENST00000366425.4

Conserved Domains (3) summary

smart00013
Location:25 → 59

LRRNT; Leucine rich repeat N-terminal domain

smart00082
Location:89 → 135

LRRCT; Leucine rich repeat C-terminal domain

sd00031
Location:58 → 80

LRR_1; leucine-rich repeat [structural motif]