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    GP9 glycoprotein IX platelet [ Homo sapiens (human) ]

    Gene ID: 2815, updated on 5-Aug-2018

    Summary

    Official Symbol
    GP9provided by HGNC
    Official Full Name
    glycoprotein IX plateletprovided by HGNC
    Primary source
    HGNC:HGNC:4444
    See related
    Ensembl:ENSG00000169704 MIM:173515; Vega:OTTHUMG00000159944
    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
    GPIX; CD42a
    Summary
    This gene encodes a small membrane glycoprotein found on the surface of human platelets. It forms a 1-to-1 noncovalent complex with glycoprotein Ib, a platelet surface membrane glycoprotein complex that functions as a receptor for von Willebrand factor. The complete receptor complex includes noncovalent association of the alpha and beta subunits with the protein encoded by this gene and platelet glycoprotein V. Defects in this gene are a cause of Bernard-Soulier syndrome, also known as giant platelet disease. These patients have unusually large platelets and have a clinical bleeding tendency. [provided by RefSeq, Oct 2008]
    Expression
    Biased expression in bone marrow (RPKM 1.0), spleen (RPKM 0.7) and 4 other tissues See more
    Orthologs

    Genomic context

    See GP9 in Genome Data Viewer
    Location:
    3q21.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (129055449..129062411)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (128775459..128781254)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene KIAA1257 Neighboring gene EF-hand and coiled-coil domain containing 1 Neighboring gene jumonji domain containing 4 pseudogene Neighboring gene ISY1-RAB43 readthrough Neighboring gene RAB43, member RAS oncogene family Neighboring gene ISY1 splicing factor homolog

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • ECM-receptor interaction, organism-specific biosystem (from KEGG)
      ECM-receptor interaction, organism-specific biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
    • ECM-receptor interaction, conserved biosystem (from KEGG)
      ECM-receptor interaction, conserved biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
    • Formation of Fibrin Clot (Clotting Cascade), organism-specific biosystem (from REACTOME)
      Formation of Fibrin Clot (Clotting Cascade), organism-specific biosystemThe formation of a fibrin clot at the site of an injury to the wall of a normal blood vessel is an essential part of the process to stop blood loss after vascular injury. The reactions that lead to ...
    • GP1b-IX-V activation signalling, organism-specific biosystem (from REACTOME)
      GP1b-IX-V activation signalling, organism-specific biosystemThe platelet GPIb complex (GP1b-IX-V) together with GPVI are primarily responsible for regulating the initial adhesion of platelets to the damaged blood vessel and platelet activation. The importance...
    • Hematopoietic Stem Cell Differentiation, organism-specific biosystem (from WikiPathways)
      Hematopoietic Stem Cell Differentiation, organism-specific biosystemGrowth factors and miRNA regulating differentiation of hematopoietic stem cells (HSC) to various blood-related cell types. Note that myeloblasts branch off separately from erythrocytes and megakaryoc...
    • Hematopoietic cell lineage, organism-specific biosystem (from KEGG)
      Hematopoietic cell lineage, organism-specific biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
    • Hematopoietic cell lineage, conserved biosystem (from KEGG)
      Hematopoietic cell lineage, conserved biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Intrinsic Pathway of Fibrin Clot Formation, organism-specific biosystem (from REACTOME)
      Intrinsic Pathway of Fibrin Clot Formation, organism-specific biosystemThe intrinsic pathway of blood clotting connects interactions among kininogen (high molecular weight kininogen, HK), prekallikrein (PK), and factor XII to the activation of clotting factor X by a ser...
    • Platelet Adhesion to exposed collagen, organism-specific biosystem (from REACTOME)
      Platelet Adhesion to exposed collagen, organism-specific biosystemInitiation of platelet adhesion is the first step in the formation of the platelet plug. Circulating platelets are arrested and subsequently activated by exposed collagen and vWF. It is not entirely ...
    • Platelet Aggregation (Plug Formation), organism-specific biosystem (from REACTOME)
      Platelet Aggregation (Plug Formation), organism-specific biosystemThe tethering of platelets to the site of vascular injury is the first step in the formation of a platelet thrombus. Firm adhesion of these tethered platelets, as well as the additional recruitment o...
    • Platelet activation, organism-specific biosystem (from KEGG)
      Platelet activation, organism-specific biosystemPlatelets play a key and beneficial role for primary hemostasis on the disruption of the integrity of vessel wall. Platelet adhesion and activation at sites of vascular wall injury is initiated by ad...
    • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
      Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    blood coagulation, intrinsic pathway TAS
    Traceable Author Statement
    more info
     
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    platelet activation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    platelet glycoprotein IX
    Names
    glycoprotein 9

    NCBI Reference Sequences (RefSeq)

    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_008715.1 RefSeqGene

      Range
      4966..6610
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_477

    mRNA and Protein(s)

    1. NM_000174.4NP_000165.1  platelet glycoprotein IX precursor

      See identical proteins and their annotated locations for NP_000165.1

      Status: REVIEWED

      Source sequence(s)
      BC030229, BM971739, X52997
      Consensus CDS
      CCDS3055.1
      UniProtKB/Swiss-Prot
      P14770
      Related
      ENSP00000303942.4, OTTHUMP00000217111, ENST00000307395.4, OTTHUMT00000358428
      Conserved Domains (4) summary
      smart00013
      Location:1955
      LRRNT; Leucine rich repeat N-terminal domain
      smart00082
      Location:85130
      LRRCT; Leucine rich repeat C-terminal domain
      sd00031
      Location:4676
      LRR_1; leucine-rich repeat [structural motif]
      pfam12799
      Location:5486
      LRR_4; Leucine Rich repeats (2 copies)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

      Range
      129055449..129062411
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011512702.1XP_011511004.1  platelet glycoprotein IX isoform X1

      See identical proteins and their annotated locations for XP_011511004.1

      UniProtKB/Swiss-Prot
      P14770
      Conserved Domains (4) summary
      smart00013
      Location:1955
      LRRNT; Leucine rich repeat N-terminal domain
      smart00082
      Location:85130
      LRRCT; Leucine rich repeat C-terminal domain
      sd00031
      Location:4676
      LRR_1; leucine-rich repeat [structural motif]
      pfam12799
      Location:5486
      LRR_4; Leucine Rich repeats (2 copies)
    2. XM_011512701.1XP_011511003.1  platelet glycoprotein IX isoform X1

      See identical proteins and their annotated locations for XP_011511003.1

      UniProtKB/Swiss-Prot
      P14770
      Conserved Domains (4) summary
      smart00013
      Location:1955
      LRRNT; Leucine rich repeat N-terminal domain
      smart00082
      Location:85130
      LRRCT; Leucine rich repeat C-terminal domain
      sd00031
      Location:4676
      LRR_1; leucine-rich repeat [structural motif]
      pfam12799
      Location:5486
      LRR_4; Leucine Rich repeats (2 copies)
    3. XM_005247374.3XP_005247431.1  platelet glycoprotein IX isoform X1

      See identical proteins and their annotated locations for XP_005247431.1

      UniProtKB/Swiss-Prot
      P14770
      Conserved Domains (4) summary
      smart00013
      Location:1955
      LRRNT; Leucine rich repeat N-terminal domain
      smart00082
      Location:85130
      LRRCT; Leucine rich repeat C-terminal domain
      sd00031
      Location:4676
      LRR_1; leucine-rich repeat [structural motif]
      pfam12799
      Location:5486
      LRR_4; Leucine Rich repeats (2 copies)
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