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P14770

- GPIX_HUMAN

UniProt

P14770 - GPIX_HUMAN

Protein

Platelet glycoprotein IX

Gene

GP9

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
  1. Functioni

    The GPIb-V-IX complex functions as the vWF receptor and mediates vWF-dependent platelet adhesion to blood vessels. The adhesion of platelets to injured vascular surfaces in the arterial circulation is a critical initiating event in hemostasis. GP-IX may provide for membrane insertion and orientation of GP-Ib.

    GO - Biological processi

    1. blood coagulation Source: Reactome
    2. blood coagulation, intrinsic pathway Source: Reactome
    3. cell adhesion Source: ProtInc
    4. platelet activation Source: Reactome

    Keywords - Biological processi

    Blood coagulation, Cell adhesion, Hemostasis

    Enzyme and pathway databases

    ReactomeiREACT_1230. Platelet Adhesion to exposed collagen.
    REACT_23847. GP1b-IX-V activation signalling.
    REACT_278. Platelet Aggregation (Plug Formation).
    REACT_326. Intrinsic Pathway.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Platelet glycoprotein IX
    Short name:
    GP-IX
    Short name:
    GPIX
    Alternative name(s):
    Glycoprotein 9
    CD_antigen: CD42a
    Gene namesi
    Name:GP9
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:4444. GP9.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of plasma membrane Source: ProtInc
    2. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Bernard-Soulier syndrome (BSS) [MIM:231200]: A coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, thrombocytopenia, and impaired prothrombin consumption.7 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti7 – 71L → P in BSS. 1 Publication
    VAR_024996
    Natural varianti24 – 241C → R in BSS. 1 Publication
    Corresponds to variant rs28933378 [ dbSNP | Ensembl ].
    VAR_024997
    Natural varianti37 – 371D → G in BSS. 1 Publication
    VAR_005263
    Natural varianti56 – 561L → P in BSS. 1 Publication
    Corresponds to variant rs28933377 [ dbSNP | Ensembl ].
    VAR_024998
    Natural varianti61 – 611N → S in BSS. 1 Publication
    Corresponds to variant rs5030764 [ dbSNP | Ensembl ].
    VAR_005264
    Natural varianti71 – 711F → S in BSS. 1 Publication
    VAR_024999
    Natural varianti113 – 1131C → Y in BSS. 1 Publication
    VAR_025008
    Natural varianti156 – 1561A → T in BSS. 2 Publications
    Corresponds to variant rs3796130 [ dbSNP | Ensembl ].
    VAR_025009

    Keywords - Diseasei

    Bernard Soulier syndrome, Disease mutation

    Organism-specific databases

    MIMi231200. phenotype.
    Orphaneti274. Bernard-Soulier syndrome.
    PharmGKBiPA28825.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 16164 PublicationsAdd
    BLAST
    Chaini17 – 177161Platelet glycoprotein IXPRO_0000021360Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi60 – 601N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiP14770.
    PRIDEiP14770.

    2D gel databases

    OGPiP14770.

    Expressioni

    Gene expression databases

    ArrayExpressiP14770.
    BgeeiP14770.
    CleanExiHS_GP9.
    GenevestigatoriP14770.

    Interactioni

    Subunit structurei

    Two GP-Ib beta are disulfide-linked to one GP-Ib alpha. GP-IX is complexed with the GP-Ib heterodimer via a non covalent linkage.

    Protein-protein interaction databases

    BioGridi109077. 2 interactions.
    IntActiP14770. 4 interactions.
    MINTiMINT-6742784.
    STRINGi9606.ENSP00000303942.

    Structurei

    Secondary structure

    1
    177
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Turni68 – 736
    Helixi94 – 1018

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3REZX-ray2.35A/B/C/D45-52[»]
    A/B/C/D65-76[»]
    A/B/C/D92-102[»]
    ProteinModelPortaliP14770.
    SMRiP14770. Positions 20-116.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini17 – 147131ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini169 – 1779CytoplasmicSequence Analysis

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei148 – 16821HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini17 – 5135LRRNTAdd
    BLAST
    Repeati60 – 8324LRRAdd
    BLAST
    Domaini85 – 13753LRRCTAdd
    BLAST

    Sequence similaritiesi

    Contains 1 LRR (leucine-rich) repeat.Curated
    Contains 1 LRRCT domain.Curated
    Contains 1 LRRNT domain.Curated

    Keywords - Domaini

    Leucine-rich repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG307904.
    HOGENOMiHOG000089943.
    HOVERGENiHBG005898.
    InParanoidiP14770.
    KOiK06263.
    OMAiETMGLWV.
    OrthoDBiEOG7X6M1H.
    PhylomeDBiP14770.

    Family and domain databases

    InterProiIPR000483. Cys-rich_flank_reg_C.
    IPR001611. Leu-rich_rpt.
    IPR000372. LRR-contain_N.
    [Graphical view]
    PfamiPF13855. LRR_8. 1 hit.
    PF01462. LRRNT. 1 hit.
    [Graphical view]
    SMARTiSM00082. LRRCT. 1 hit.
    SM00013. LRRNT. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    P14770-1 [UniParc]FASTAAdd to Basket

    « Hide

    MPAWGALFLL WATAEATKDC PSPCTCRALE TMGLWVDCRG HGLTALPALP    50
    ARTRHLLLAN NSLQSVPPGA FDHLPQLQTL DVTQNPWHCD CSLTYLRLWL 100
    EDRTPEALLQ VRCASPSLAA HGPLGRLTGY QLGSCGWQLQ ASWVRPGVLW 150
    DVALVAVAAL GLALLAGLLC ATTEALD 177
    Length:177
    Mass (Da):19,046
    Last modified:November 1, 1997 - v3
    Checksum:i6A023B96C7854D59
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti24 – 263CTC → LTT AA sequence (PubMed:3056407)Curated
    Sequence conflicti125 – 1251Missing in AAA36809. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti7 – 71L → P in BSS. 1 Publication
    VAR_024996
    Natural varianti24 – 241C → R in BSS. 1 Publication
    Corresponds to variant rs28933378 [ dbSNP | Ensembl ].
    VAR_024997
    Natural varianti37 – 371D → G in BSS. 1 Publication
    VAR_005263
    Natural varianti56 – 561L → P in BSS. 1 Publication
    Corresponds to variant rs28933377 [ dbSNP | Ensembl ].
    VAR_024998
    Natural varianti61 – 611N → S in BSS. 1 Publication
    Corresponds to variant rs5030764 [ dbSNP | Ensembl ].
    VAR_005264
    Natural varianti71 – 711F → S in BSS. 1 Publication
    VAR_024999
    Natural varianti113 – 1131C → Y in BSS. 1 Publication
    VAR_025008
    Natural varianti156 – 1561A → T in BSS. 2 Publications
    Corresponds to variant rs3796130 [ dbSNP | Ensembl ].
    VAR_025009

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X52997 mRNA. Translation: CAA37186.1.
    M80478 Genomic DNA. Translation: AAB40042.1.
    M25827 mRNA. Translation: AAA36809.1.
    BC030229 mRNA. Translation: AAH30229.1.
    D88290 Genomic DNA. Translation: BAA13580.1.
    CCDSiCCDS3055.1.
    PIRiA46606.
    RefSeqiNP_000165.1. NM_000174.3.
    XP_005247431.1. XM_005247374.2.
    UniGeneiHs.1144.

    Genome annotation databases

    EnsembliENST00000307395; ENSP00000303942; ENSG00000169704.
    GeneIDi2815.
    KEGGihsa:2815.
    UCSCiuc003elm.2. human.

    Polymorphism databases

    DMDMi2822110.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X52997 mRNA. Translation: CAA37186.1 .
    M80478 Genomic DNA. Translation: AAB40042.1 .
    M25827 mRNA. Translation: AAA36809.1 .
    BC030229 mRNA. Translation: AAH30229.1 .
    D88290 Genomic DNA. Translation: BAA13580.1 .
    CCDSi CCDS3055.1.
    PIRi A46606.
    RefSeqi NP_000165.1. NM_000174.3.
    XP_005247431.1. XM_005247374.2.
    UniGenei Hs.1144.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3REZ X-ray 2.35 A/B/C/D 45-52 [» ]
    A/B/C/D 65-76 [» ]
    A/B/C/D 92-102 [» ]
    ProteinModelPortali P14770.
    SMRi P14770. Positions 20-116.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109077. 2 interactions.
    IntActi P14770. 4 interactions.
    MINTi MINT-6742784.
    STRINGi 9606.ENSP00000303942.

    Chemistry

    DrugBanki DB00468. Quinine.

    Polymorphism databases

    DMDMi 2822110.

    2D gel databases

    OGPi P14770.

    Proteomic databases

    PaxDbi P14770.
    PRIDEi P14770.

    Protocols and materials databases

    DNASUi 2815.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000307395 ; ENSP00000303942 ; ENSG00000169704 .
    GeneIDi 2815.
    KEGGi hsa:2815.
    UCSCi uc003elm.2. human.

    Organism-specific databases

    CTDi 2815.
    GeneCardsi GC03P128779.
    HGNCi HGNC:4444. GP9.
    MIMi 173515. gene.
    231200. phenotype.
    neXtProti NX_P14770.
    Orphaneti 274. Bernard-Soulier syndrome.
    PharmGKBi PA28825.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG307904.
    HOGENOMi HOG000089943.
    HOVERGENi HBG005898.
    InParanoidi P14770.
    KOi K06263.
    OMAi ETMGLWV.
    OrthoDBi EOG7X6M1H.
    PhylomeDBi P14770.

    Enzyme and pathway databases

    Reactomei REACT_1230. Platelet Adhesion to exposed collagen.
    REACT_23847. GP1b-IX-V activation signalling.
    REACT_278. Platelet Aggregation (Plug Formation).
    REACT_326. Intrinsic Pathway.

    Miscellaneous databases

    GeneWikii Glycoprotein_IX.
    GenomeRNAii 2815.
    NextBioi 11097.
    PROi P14770.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P14770.
    Bgeei P14770.
    CleanExi HS_GP9.
    Genevestigatori P14770.

    Family and domain databases

    InterProi IPR000483. Cys-rich_flank_reg_C.
    IPR001611. Leu-rich_rpt.
    IPR000372. LRR-contain_N.
    [Graphical view ]
    Pfami PF13855. LRR_8. 1 hit.
    PF01462. LRRNT. 1 hit.
    [Graphical view ]
    SMARTi SM00082. LRRCT. 1 hit.
    SM00013. LRRNT. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Human platelet glycoprotein IX. Characterization of cDNA and localization of the gene to chromosome 3."
      Hickey M.J., Deaven L.L., Roth G.J.
      FEBS Lett. 274:189-192(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], PROTEIN SEQUENCE OF 17-33 AND 98-109.
    2. Roth G.J.
      Submitted (JUN-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: SEQUENCE REVISION TO 125.
    3. "Characterization of the gene encoding human platelet glycoprotein IX."
      Hickey M.J., Roth G.J.
      J. Biol. Chem. 268:3438-3443(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
      Tissue: Liver.
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT THR-156.
      Tissue: Pancreas.
    5. "Human platelet glycoprotein IX: an adhesive prototype of leucine-rich glycoproteins with flank-center-flank structures."
      Hickey M.J., Williams S.A., Roth G.J.
      Proc. Natl. Acad. Sci. U.S.A. 86:6773-6777(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 12-177, PROTEIN SEQUENCE OF 17-33 AND 98-109.
    6. "Corrected DNA sequence of the platelet glycoprotein IX gene."
      Hayashi T., Suzuki K.
      Thromb. Haemost. 77:1034-1035(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 58-141.
    7. "Isolation and characterization of human platelet glycoprotein IX."
      Roth G.J., Ozols J., Nugent D.J., Williams S.A.
      Biochem. Biophys. Res. Commun. 156:931-939(1988) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 17-33.
    8. "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides."
      Gevaert K., Goethals M., Martens L., Van Damme J., Staes A., Thomas G.R., Vandekerckhove J.
      Nat. Biotechnol. 21:566-569(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 17-27.
      Tissue: Platelet.
    9. "Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome."
      Wright S.D., Michaelides K., Johnson D.J., West N.C., Tuddenham E.G.
      Blood 81:2339-2347(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS BSS GLY-37 AND SER-61.
    10. "A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome."
      Noris P., Simsek S., Stibbe J., von dem Borne A.E.G.K.
      Br. J. Haematol. 97:312-320(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT BSS SER-71.
    11. "A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV."
      Noris P., Arbustini E., Spedini P., Belletti S., Balduini C.L.
      Br. J. Haematol. 103:1004-1013(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT BSS PRO-56.
    12. "Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome."
      Kunishima S., Tomiyama Y., Honda S., Kurata Y., Kamiya T., Ozawa K., Saito H.
      Br. J. Haematol. 107:539-545(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT BSS TYR-113.
    13. "Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome."
      Rivera C.E., Villagra J., Riordan M., Williams S., Lindstrom K.J., Rick M.E.
      Br. J. Haematol. 112:105-108(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT BSS ARG-24.
    14. "A novel point mutation in the transmembrane domain of platelet glycoprotein IX gene identified in a Bernard-Soulier syndrome patient."
      Wang Z., Shi J., Han Y.
      Zhonghua Xue Ye Xue Za Zhi 22:464-466(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT BSS THR-156.
    15. "A Leu7-to-Pro mutation in the signal peptide of platelet glycoprotein (GP)IX in a case of Bernard-Soulier syndrome abolishes surface expression of the GPIb-V-IX complex."
      Lanza F., de la Salle C., Baas M.-J., Schwartz A., Boval B., Cazenave J.-P., Caen J.P.
      Br. J. Haematol. 118:260-266(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT BSS PRO-7.

    Entry informationi

    Entry nameiGPIX_HUMAN
    AccessioniPrimary (citable) accession number: P14770
    Secondary accession number(s): Q14445, Q8N1D1, Q92525
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 1, 1990
    Last sequence update: November 1, 1997
    Last modified: October 1, 2014
    This is version 152 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Miscellaneous

    Platelet activation apparently involves disruption of the macromolecular complex of GP-Ib with the platelet glycoprotein IX (GP-IX) and dissociation of GP-Ib from the actin-binding protein.

    Keywords - Technical termi

    3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human cell differentiation molecules
      CD nomenclature of surface proteins of human leucocytes and list of entries
    2. Human chromosome 3
      Human chromosome 3: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3