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    GP1BA glycoprotein Ib platelet subunit alpha [ Homo sapiens (human) ]

    Gene ID: 2811, updated on 17-Jun-2024

    Summary

    Official Symbol
    GP1BAprovided by HGNC
    Official Full Name
    glycoprotein Ib platelet subunit alphaprovided by HGNC
    Primary source
    HGNC:HGNC:4439
    See related
    Ensembl:ENSG00000185245 MIM:606672; AllianceGenome:HGNC:4439
    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
    BSS; GP1B; VWDP; CD42B; GPIbA; BDPLT1; BDPLT3; DBPLT3; GPIbalpha; CD42b-alpha
    Summary
    Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease. The coding region of this gene is known to contain a polymophic variable number tandem repeat (VNTR) domain that is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy. [provided by RefSeq, Oct 2013]
    Expression
    Biased expression in lymph node (RPKM 7.8), spleen (RPKM 2.5) and 9 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See GP1BA in Genome Data Viewer
    Location:
    17p13.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (4932277..4935023)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (4822661..4825369)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (4835572..4838318)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene misshapen like kinase 1 Neighboring gene RNA, 7SL, cytoplasmic 784, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8049 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8050 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11551 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4805105-4805746 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4805747-4806388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11552 Neighboring gene Sharpr-MPRA regulatory region 10924 Neighboring gene chromosome 17 open reading frame 107 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4811144-4811970 Neighboring gene cholinergic receptor nicotinic epsilon subunit Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4811971-4812796 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4812797-4813623 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4841097-4841622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4841623-4842148 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4842149-4842674 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8051 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11555 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:4843813-4844007 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11556 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4847507-4848050 Neighboring gene solute carrier family 25 member 11 Neighboring gene ring finger protein 167

    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
    Bernard-Soulier syndrome, type A2, autosomal dominant
    MedGen: C3277076 OMIM: 153670 GeneReviews: Not available
    Compare labs
    Nonarteritic anterior ischemic optic neuropathy, susceptibility to
    MedGen: C1847711 OMIM: 258660 GeneReviews: Not available
    Compare labs
    Pseudo von Willebrand disease
    MedGen: C1280798 OMIM: 177820 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    EBI GWAS Catalog
    New gene functions in megakaryopoiesis and platelet formation.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC34595

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables thrombin-activated receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within blood coagulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 
    acts_upstream_of_or_within cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell surface receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in fibrinolysis IDA
    Inferred from Direct Assay
    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 TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of leukocyte tethering or rolling IEA
    Inferred from Electronic Annotation
    more info
     
    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 regulation of blood coagulation TAS
    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 
    involved_in thrombin-activated receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cell surface HDA PubMed 
    colocalizes_with external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    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 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 membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    platelet glycoprotein Ib alpha chain
    Names
    GP-Ib alpha
    antigen CD42b-alpha
    glycoprotein Ib (platelet), alpha polypeptide
    glycoprotein Ib platelet alpha subunit
    mutant platelet membrane glycoprotein Ib-alpha
    platelet membrane glycoprotein 1b-alpha subunit
    platelet membrane glycoprotein Ib-alpha

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_008767.2 RefSeqGene

      Range
      4983..7729
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_480

    mRNA and Protein(s)

    1. NM_000173.7NP_000164.5  platelet glycoprotein Ib alpha chain precursor

      See identical proteins and their annotated locations for NP_000164.5

      Status: REVIEWED

      Source sequence(s)
      BC027955, HY099146, KC120774
      Consensus CDS
      CCDS54068.1
      UniProtKB/Swiss-Prot
      E7ES66, P07359, Q14441, Q16469, Q8N1F3, Q8NG39, Q9HDC7, Q9UEK1, Q9UQS4
      UniProtKB/TrEMBL
      E0D851
      Related
      ENSP00000329380.5, ENST00000329125.6
      Conserved Domains (6) summary
      smart00013
      Location:1950
      LRRNT; Leucine rich repeat N-terminal domain
      smart00082
      Location:221281
      LRRCT; Leucine rich repeat C-terminal domain
      cd00116
      Location:51200
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00031
      Location:213225
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:3048
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:116176
      LRR_8; Leucine rich repeat

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      4932277..4935023
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      4822661..4825369
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)