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P14770 (GPIX_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 148. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Platelet glycoprotein IX

Short name=GP-IX
Short name=GPIX
Alternative name(s):
Glycoprotein 9
CD_antigen=CD42a
Gene names
Name:GP9
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length177 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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.

Subcellular location

Membrane; Single-pass type I membrane protein.

Involvement in disease

Bernard-Soulier syndrome (BSS) [MIM:231200]: A coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, thrombocytopenia, and impaired prothrombin consumption.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9 Ref.10 Ref.11 Ref.12 Ref.13 Ref.14 Ref.15

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.

Sequence similarities

Contains 1 LRR (leucine-rich) repeat.

Contains 1 LRRCT domain.

Contains 1 LRRNT domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1616 Ref.1 Ref.5 Ref.7 Ref.8
Chain17 – 177161Platelet glycoprotein IX
PRO_0000021360

Regions

Topological domain17 – 147131Extracellular Potential
Transmembrane148 – 16821Helical; Potential
Topological domain169 – 1779Cytoplasmic Potential
Domain17 – 5135LRRNT
Repeat60 – 8324LRR
Domain85 – 13753LRRCT

Amino acid modifications

Glycosylation601N-linked (GlcNAc...) Potential

Natural variations

Natural variant71L → P in BSS. Ref.15
VAR_024996
Natural variant241C → R in BSS. Ref.13
Corresponds to variant rs28933378 [ dbSNP | Ensembl ].
VAR_024997
Natural variant371D → G in BSS. Ref.9
VAR_005263
Natural variant561L → P in BSS. Ref.11
Corresponds to variant rs28933377 [ dbSNP | Ensembl ].
VAR_024998
Natural variant611N → S in BSS. Ref.9
Corresponds to variant rs5030764 [ dbSNP | Ensembl ].
VAR_005264
Natural variant711F → S in BSS. Ref.10
VAR_024999
Natural variant1131C → Y in BSS. Ref.12
VAR_025008
Natural variant1561A → T in BSS. Ref.4 Ref.14
Corresponds to variant rs3796130 [ dbSNP | Ensembl ].
VAR_025009

Experimental info

Sequence conflict24 – 263CTC → LTT AA sequence Ref.7
Sequence conflict1251Missing in AAA36809. Ref.2

Secondary structure

..... 177
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
P14770 [UniParc].

Last modified November 1, 1997. Version 3.
Checksum: 6A023B96C7854D59

FASTA17719,046
        10         20         30         40         50         60 
MPAWGALFLL WATAEATKDC PSPCTCRALE TMGLWVDCRG HGLTALPALP ARTRHLLLAN 

        70         80         90        100        110        120 
NSLQSVPPGA FDHLPQLQTL DVTQNPWHCD CSLTYLRLWL EDRTPEALLQ VRCASPSLAA 

       130        140        150        160        170 
HGPLGRLTGY QLGSCGWQLQ ASWVRPGVLW DVALVAVAAL GLALLAGLLC ATTEALD 

« Hide

References

« Hide 'large scale' references
[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.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRA46606.
RefSeqNP_000165.1. NM_000174.3.
XP_005247431.1. XM_005247374.2.
UniGeneHs.1144.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3REZX-ray2.35A/B/C/D92-102[»]
ProteinModelPortalP14770.
SMRP14770. Positions 20-116.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109077. 2 interactions.
IntActP14770. 4 interactions.
MINTMINT-6742784.
STRING9606.ENSP00000303942.

Chemistry

DrugBankDB00468. Quinine.

Polymorphism databases

DMDM2822110.

2D gel databases

OGPP14770.

Proteomic databases

PaxDbP14770.
PRIDEP14770.

Protocols and materials databases

DNASU2815.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000307395; ENSP00000303942; ENSG00000169704.
GeneID2815.
KEGGhsa:2815.
UCSCuc003elm.2. human.

Organism-specific databases

CTD2815.
GeneCardsGC03P128779.
HGNCHGNC:4444. GP9.
MIM173515. gene.
231200. phenotype.
neXtProtNX_P14770.
Orphanet274. Bernard-Soulier syndrome.
PharmGKBPA28825.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG307904.
HOGENOMHOG000089943.
HOVERGENHBG005898.
InParanoidP14770.
KOK06263.
OMAPPGAFDH.
OrthoDBEOG7X6M1H.
PhylomeDBP14770.

Enzyme and pathway databases

ReactomeREACT_604. Hemostasis.

Gene expression databases

ArrayExpressP14770.
BgeeP14770.
CleanExHS_GP9.
GenevestigatorP14770.

Family and domain databases

InterProIPR000483. Cys-rich_flank_reg_C.
IPR000372. LRR-contain_N.
[Graphical view]
PfamPF01462. LRRNT. 1 hit.
[Graphical view]
SMARTSM00082. LRRCT. 1 hit.
SM00013. LRRNT. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiGlycoprotein_IX.
GenomeRNAi2815.
NextBio11097.
PROP14770.
SOURCESearch...

Entry information

Entry nameGPIX_HUMAN
AccessionPrimary (citable) accession number: P14770
Secondary accession number(s): Q14445, Q8N1D1, Q92525
Entry history
Integrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: November 1, 1997
Last modified: April 16, 2014
This is version 148 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM

Human cell differentiation molecules

CD nomenclature of surface proteins of human leucocytes and list of entries