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P14770

- GPIX_HUMAN

UniProt

P14770 - GPIX_HUMAN

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Protein

Platelet glycoprotein IX

Gene

GP9

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

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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiP14770.
CleanExiHS_GP9.
ExpressionAtlasiP14770. baseline and differential.
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.
GeneTreeiENSGT00530000064244.
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 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MPAWGALFLL WATAEATKDC PSPCTCRALE TMGLWVDCRG HGLTALPALP
60 70 80 90 100
ARTRHLLLAN NSLQSVPPGA FDHLPQLQTL DVTQNPWHCD CSLTYLRLWL
110 120 130 140 150
EDRTPEALLQ VRCASPSLAA HGPLGRLTGY QLGSCGWQLQ ASWVRPGVLW
160 170
DVALVAVAAL GLALLAGLLC ATTEALD
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_000174.4.
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_000174.4.
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.
GeneTreei ENSGT00530000064244.
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

Bgeei P14770.
CleanExi HS_GP9.
ExpressionAtlasi P14770. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 153 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