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Gp1bb glycoprotein Ib, beta polypeptide [ Mus musculus (house mouse) ]

Gene ID: 14724, updated on 21-Apr-2024

Summary

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Official Symbol
Gp1bbprovided by MGI
Official Full Name
glycoprotein Ib, beta polypeptideprovided by MGI
Primary source
MGI:MGI:107852
See related
Ensembl:ENSMUSG00000050761 AllianceGenome:MGI:107852
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
Predicted to enable identical protein binding activity. Predicted to act upstream of or within cell adhesion. Predicted to be integral component of plasma membrane. Is expressed in central nervous system; heart; male reproductive gland or organ; retina; and yolk sac. Used to study Bernard-Soulier syndrome. Human ortholog(s) of this gene implicated in Bernard-Soulier syndrome. Orthologous to human GP1BB (glycoprotein Ib platelet subunit beta). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in duodenum adult (RPKM 108.2), small intestine adult (RPKM 101.7) and 19 other tissues See more
Orthologs
human all
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Genomic context

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Location:
16 A3; 16 11.53 cM
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (18439069..18441153, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (18620319..18622403, complement)

Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene T-box 1 Neighboring gene predicted gene, 35369 Neighboring gene Tbx1 upstream enhancer region Neighboring gene RIKEN cDNA 4930588K23 gene Neighboring gene septin 5 Neighboring gene ribosomal protein S2, pseudogene 7 Neighboring gene predicted gene, 41429

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Early Endosomal GTPase Rab5 (Ras-Related Protein in Brain 5) Regulates GPIbβ (Glycoprotein Ib Subunit β) Trafficking and Platelet Production In Vitro. Bertović I, et al. Arterioscler Thromb Vasc Biol, 2022 Jan. PMID 34732055
  2. A central role of GPIb-IX in the procoagulant function of platelets that is independent of the 45-kDa GPIbalpha N-terminal extracellular domain. Ravanat C, et al. Blood, 2010 Aug 19. PMID 20457869
  3. Characterization of the gene encoding mouse platelet glycoprotien Ib beta. Kitaguchi T, et al. Thromb Res, 1997 Jul 15. PMID 9259114
  4. Lentiviral gene rescue of a Bernard-Soulier mouse model to study platelet glycoprotein Ibβ function. Strassel C, et al. J Thromb Haemost, 2016 Jul. PMID 27148783
  5. Genetic deletion of mouse platelet glycoprotein Ibbeta produces a Bernard-Soulier phenotype with increased alpha-granule size. Kato K, et al. Blood, 2004 Oct 15. PMID 15213102

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Early Endosomal GTPase Rab5 (Ras-Related Protein in Brain 5) Regulates GPIbbeta (Glycoprotein Ib Subunit beta) Trafficking and Platelet Production In Vitro.
    Title: Early Endosomal GTPase Rab5 (Ras-Related Protein in Brain 5) Regulates GPIbβ (Glycoprotein Ib Subunit β) Trafficking and Platelet Production In Vitro.
  2. These results indicate that Reelin is an important regulator of GPIb-mediated platelet activation and may represent a new therapeutic target for the prevention and treatment of cardio- and cerebrovascular diseases
    Title: Loss of Reelin protects mice against arterial thrombosis by impairing integrin activation and thrombus formation under high shear conditions.
  3. GPIbbeta has a repressor function in thrombus formation
    Title: Lentiviral gene rescue of a Bernard-Soulier mouse model to study platelet glycoprotein Ibβ function.
  4. These data indicate an important role for the platelet adhesion receptor GPIb-IX in endotoxin-induced thrombosis and thrombocytopenia.
    Title: Role for platelet glycoprotein Ib-IX and effects of its inhibition in endotoxemia-induced thrombosis, thrombocytopenia, and mortality.
  5. Data show that the surface-bound VWF appears as a large, linear structure on the surface of 50% of the PT-VWD platelets.
    Title: Visualizing the von Willebrand factor/glycoprotein Ib-IX axis with a platelet-type von Willebrand disease mutation.
  6. Role of GPIbbeta in modulating vWF mediated platelet adhesion.
    Title: A novel monoclonal antibody against the extracellular domain of GPIbbeta modulates vWF mediated platelet adhesion.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in blood coagulation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in blood coagulation, intrinsic pathway ISO
Inferred from Sequence Orthology
more info
  
involved_in blood coagulation, intrinsic pathway NAS
Non-traceable Author Statement
more info
 PubMed 
acts_upstream_of_or_within cell adhesion ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
acts_upstream_of_or_within hemostasis IEA
Inferred from Electronic Annotation
more info
  
involved_in megakaryocyte development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in megakaryocyte development NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of platelet activation ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of platelet activation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in release of sequestered calcium ion into cytosol ISO
Inferred from Sequence Orthology
more info
  
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 ISO
Inferred from Sequence Orthology
more info
  
part_of glycoprotein Ib-IX-V complex NAS
Non-traceable Author Statement
more info
 PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 

General protein information

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Preferred Names
platelet glycoprotein Ib beta chain
Names
GP-Ib beta
GPIb-beta
GPIbB

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.

mRNA and Protein(s)

  1. NM_001001999.1 → NP_001001999.1  platelet glycoprotein Ib beta chain isoform 1 precursor

    See identical proteins and their annotated locations for NP_001001999.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AA222119, BC053108, BX631606
    Consensus CDS
    CCDS28025.1
    UniProtKB/TrEMBL
    B2RR03
    Related
    ENSMUSP00000059270.3, ENSMUST00000051160.4
    Conserved Domains (3) summary
    smart00013
    Location:33 → 67
    LRRNT; Leucine rich repeat N-terminal domain
    smart00082
    Location:97 → 143
    LRRCT; Leucine rich repeat C-terminal domain
    sd00031
    Location:43 → 64
    LRR_1; leucine-rich repeat [structural motif]

  2. NM_010327.2 → NP_034457.1  platelet glycoprotein Ib beta chain isoform 2 precursor

    See identical proteins and their annotated locations for NP_034457.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an internal segment, as compared to variant 1. It encodes isoform 2 which has an alternate N-terminus, as compared to isoform 1.
    Source sequence(s)
    AA024279, AA222119, BC053108, BX631606
    Consensus CDS
    CCDS49787.1
    UniProtKB/Swiss-Prot
    P56400
    Related
    ENSMUSP00000126292.2, ENSMUST00000167388.3
    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:35 → 56
    LRR_1; leucine-rich repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000082.7 Reference GRCm39 C57BL/6J

    Range
    18439069..18441153 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P56400.1 GenPept UniProtKB/Swiss-Prot:P56400

Gene LinkOut

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