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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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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