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GP9 glycoprotein IX platelet [ Homo sapiens (human) ]

Gene ID: 2815, updated on 8-May-2016
Official Symbol
GP9provided by HGNC
Official Full Name
glycoprotein IX plateletprovided by HGNC
Primary source
HGNC:HGNC:4444
See related
Ensembl:ENSG00000169704 HPRD:01432; 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]
Orthologs
Location:
3q21.3
Exon count:
6
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 uncharacterized LOC105374100 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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 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...
Products Interactant Other Gene Complex Source Pubs Description

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
 
Preferred Names
platelet glycoprotein IX
Names
glycoprotein 9
glycoprotein IX (platelet)

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, OTTHUMP00000217111, ENST00000307395, 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
    pfam12799
    Location:5486
    LRR_4; Leucine Rich repeats (2 copies)
    sd00031
    Location:4676
    LRR_1; leucine-rich repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011512702.1XP_011511004.1  

    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
    pfam12799
    Location:5486
    LRR_4; Leucine Rich repeats (2 copies)
    sd00031
    Location:4676
    LRR_1; leucine-rich repeat [structural motif]
  2. XM_011512701.1XP_011511003.1  

    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
    pfam12799
    Location:5486
    LRR_4; Leucine Rich repeats (2 copies)
    sd00031
    Location:4676
    LRR_1; leucine-rich repeat [structural motif]
  3. XM_005247374.3XP_005247431.1  

    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
    pfam12799
    Location:5486
    LRR_4; Leucine Rich repeats (2 copies)
    sd00031
    Location:4676
    LRR_1; leucine-rich repeat [structural motif]

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 Alternate CHM1_1.1

    Range
    128743040..128744684
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)