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    GP9 glycoprotein IX platelet [ Homo sapiens (human) ]

    Gene ID: 2815, updated on 18-Aug-2020

    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
    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
    109.20200815 current GRCh38.p13 (GCF_000001405.39) 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 cilia and flagella associated protein 92 (putative) 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    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_000174.5NP_000165.1  platelet glycoprotein IX precursor

      See identical proteins and their annotated locations for NP_000165.1

      Status: REVIEWED

      Source sequence(s)
      BC030229, X52997
      Consensus CDS
      CCDS3055.1
      UniProtKB/Swiss-Prot
      P14770
      Related
      ENSP00000303942.4, ENST00000307395.4
      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 Updated Annotation Release 109.20200815

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 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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