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    Gp1ba glycoprotein 1b, alpha polypeptide [ Mus musculus (house mouse) ]

    Gene ID: 14723, updated on 12-Nov-2024

    Summary

    Official Symbol
    Gp1baprovided by MGI
    Official Full Name
    glycoprotein 1b, alpha polypeptideprovided by MGI
    Primary source
    MGI:MGI:1333744
    See related
    Ensembl:ENSMUSG00000050675 AllianceGenome:MGI:1333744
    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
    Also known as
    GPIba; GPIbalpha; GP-Ib alpha
    Summary
    Involved in blood coagulation and megakaryocyte development. Acts upstream of or within cell morphogenesis and hemostasis. Located in cell surface. Colocalizes with external side of plasma membrane. Is expressed in dorsal root ganglion; embryo; liver; and spinal cord. Used to study Bernard-Soulier syndrome. Human ortholog(s) of this gene implicated in Bernard-Soulier syndrome; Bernard-Soulier syndrome type A2; myocardial infarction; non-arteritic anterior ischemic optic neuropathy; and platelet-type bleeding disorder 3. Orthologous to human GP1BA (glycoprotein Ib platelet subunit alpha). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in spleen adult (RPKM 3.9), liver E14.5 (RPKM 3.1) and 22 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Gp1ba in Genome Data Viewer
    Location:
    11 B3; 11 43.2 cM
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (70529928..70534812)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (70639102..70643986)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4930544D05 gene Neighboring gene cholinergic receptor, nicotinic, epsilon polypeptide Neighboring gene predicted gene 12315 Neighboring gene solute carrier family 25 (mitochondrial carrier oxoglutarate carrier), member 11 Neighboring gene STARR-positive B cell enhancer ABC_E1422 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:70460970-70461079 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:70461301-70461410 Neighboring gene STARR-positive B cell enhancer ABC_E7008 Neighboring gene ring finger protein 167 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:70465643-70465931 Neighboring gene STARR-positive B cell enhancer ABC_E3969 Neighboring gene profilin 1 Neighboring gene enolase 3, beta muscle

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in blood coagulation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within blood coagulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within blood coagulation ISO
    Inferred from Sequence Orthology
    more info
     
    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 ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    acts_upstream_of_or_within cell morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in fibrinolysis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in fibrinolysis ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within hemostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 leukocyte tethering or rolling ISO
    Inferred from Sequence Orthology
    more info
     
    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
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with external side of plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    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 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 ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 

    General protein information

    Preferred Names
    platelet glycoprotein Ib alpha chain
    Names
    glycoprotein Ibalpha

    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_001431398.1NP_001418327.1  platelet glycoprotein Ib alpha chain precursor

      Status: VALIDATED

      Source sequence(s)
      AL596117
      Consensus CDS
      CCDS24957.1
      UniProtKB/Swiss-Prot
      O35930, Q5SX47
      UniProtKB/TrEMBL
      A2CFB8

    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_000077.7 Reference GRCm39 C57BL/6J

      Range
      70529928..70534812
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006532232.4XP_006532295.1  platelet glycoprotein Ib alpha chain isoform X1

      Related
      ENSMUSP00000104191.3, ENSMUST00000108551.3
      Conserved Domains (4) summary
      smart00082
      Location:221281
      LRRCT; Leucine rich repeat C-terminal domain
      COG4886
      Location:28204
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:2847
      LRR_RI; leucine-rich repeat [structural motif]
      pfam17823
      Location:257539
      DUF5585; Family of unknown function (DUF5585)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_010326.3: Suppressed sequence

      Description
      NM_010326.3: This RefSeq was removed because currently there is insufficient support for the transcript.