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

    Gene ID: 2812, updated on 8-Jul-2021

    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
    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
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    Genomic context

    See GP1BB in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (19723539..19724771)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19711062..19712294)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100420103 Neighboring gene SEPT5-GP1BB readthrough Neighboring gene septin 5 Neighboring gene uncharacterized LOC105372861 Neighboring gene VISTA enhancer hs515 Neighboring gene T-box transcription factor 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Bernard Soulier syndrome
    MedGen: C0005129 OMIM: 231200 GeneReviews: Not available
    Compare labs
    GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Readthrough SEPT5-GP1BB

    Readthrough gene: SEPT5-GP1BB, Included gene: SEPTIN5

    Homology

    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 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 platelet activation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in integral component of plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    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
    truncated 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

    1. NG_007974.1 RefSeqGene

      Range
      5001..6232
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_478

    mRNA and Protein(s)

    1. NM_000407.5NP_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
      Related
      ENSP00000383382.2, ENST00000366425.4
      Conserved Domains (3) summary
      smart00013
      Location:2559
      LRRNT; Leucine rich repeat N-terminal domain
      smart00082
      Location:89135
      LRRCT; Leucine rich repeat C-terminal domain
      sd00031
      Location:5880
      LRR_1; leucine-rich repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

      Range
      19723539..19724771
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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