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P07359

- GP1BA_HUMAN

UniProt

P07359 - GP1BA_HUMAN

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Protein
Platelet glycoprotein Ib alpha chain
Gene
GP1BA
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

GP-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to the A1 domain of vWF, which is already bound to the subendothelium.

GO - Molecular functioni

  1. protein binding Source: UniProtKB
  2. thrombin receptor activity Source: UniProtKB

GO - Biological processi

  1. blood coagulation Source: MGI
  2. blood coagulation, intrinsic pathway Source: Reactome
  3. cell adhesion Source: MGI
  4. cell morphogenesis Source: Ensembl
  5. cell surface receptor signaling pathway Source: ProtInc
  6. fibrinolysis Source: UniProtKB
  7. platelet activation Source: UniProtKB
  8. regulation of blood coagulation Source: UniProtKB
  9. thrombin receptor signaling pathway Source: GOC
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.
SignaLinkiP07359.

Names & Taxonomyi

Protein namesi
Recommended name:
Platelet glycoprotein Ib alpha chain
Short name:
GP-Ib alpha
Short name:
GPIb-alpha
Short name:
GPIbA
Short name:
Glycoprotein Ibalpha
Alternative name(s):
Antigen CD42b-alpha
CD_antigen: CD42b
Cleaved into the following chain:
Gene namesi
Name:GP1BA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Unplaced

Organism-specific databases

HGNCiHGNC:4439. GP1BA.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini17 – 531515Extracellular Reviewed prediction
Add
BLAST
Transmembranei532 – 55221Helical; Reviewed prediction
Add
BLAST
Topological domaini553 – 652100Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. anchored component of external side of plasma membrane Source: Ensembl
  2. integral component of plasma membrane Source: ProtInc
  3. membrane Source: MGI
  4. plasma membrane Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Non-arteritic anterior ischemic optic neuropathy (NAION) [MIM:258660]: An ocular disease due to ischemic injury to the optic nerve. It usually affects the optic disk and leads to visual loss and optic disk swelling of a pallid nature. Visual loss is usually sudden, or over a few days at most and is usually permanent, with some recovery possibly occurring within the first weeks or months. Patients with small disks having smaller or non-existent cups have an anatomical predisposition for non-arteritic anterior ischemic optic neuropathy. As an ischemic episode evolves, the swelling compromises circulation, with a spiral of ischemia resulting in further neuronal damage.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.1 Publication
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.7 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti73 – 731L → F in BSS. 1 Publication
VAR_014206
Natural varianti81 – 811C → R in BSS. 1 Publication
VAR_005256
Natural varianti145 – 1451L → P in BSS. 1 Publication
VAR_014207
Natural varianti172 – 1721A → V in BSS and BSSA2. 2 Publications
VAR_005258
Natural varianti195 – 1951Missing in BSS. 1 Publication
VAR_005259
Natural varianti225 – 2251C → S in BSS. 1 Publication
VAR_005260
Bernard-Soulier syndrome A2, autosomal dominant (BSSA2) [MIM:153670]: A coagulation disorder characterized by mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet volume. Some individuals have no symptoms. Mild bleeding tendencies manifest as epistaxis, gingival bleeding, menorrhagia, easy bruising, or prolonged bleeding after dental surgery.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti172 – 1721A → V in BSS and BSSA2. 2 Publications
VAR_005258
Pseudo-von Willebrand disease (VWDP) [MIM:177820]: A bleeding disorder characterized by abnormally enhanced binding of von Willebrand factor by the platelet glycoprotein Ib (GP Ib) receptor complex. Hemostatic function is impaired due to the removal of VWF multimers from the circulation.
Note: The disease is caused by mutations affecting the gene represented in this entry.4 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti249 – 2491G → S in VWDP. 1 Publication
VAR_019657
Natural varianti249 – 2491G → V in VWDP. 2 Publications
VAR_005261
Natural varianti255 – 2551M → V in VWDP; increased binding to vWF. 2 Publications
VAR_005262

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi249 – 2491G → A: No change. 1 Publication
Mutagenesisi249 – 2491G → K or D: Decreased binding to vWF. 1 Publication
Mutagenesisi249 – 2491G → S or V: Increased binding to vWF. 1 Publication

Keywords - Diseasei

Bernard Soulier syndrome, Disease mutation, von Willebrand disease

Organism-specific databases

MIMi153670. phenotype.
177820. phenotype.
231200. phenotype.
258660. phenotype.
Orphaneti274. Bernard-Soulier syndrome.
853. Fetal and neonatal alloimmune thrombocytopenia.
52530. Von Willebrand disease, platelet type.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 16161 Publication
Add
BLAST
Chaini17 – 652636Platelet glycoprotein Ib alpha chain
PRO_0000021343Add
BLAST
Chaini17 – ?GlycocalicinPRO_0000021344

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi20 ↔ 332 Publications
Glycosylationi37 – 371N-linked (GlcNAc...)1 Publication
Glycosylationi175 – 1751N-linked (GlcNAc...)
Disulfide bondi225 ↔ 2642 Publications
Disulfide bondi227 ↔ 2802 Publications
Modified residuei292 – 2921Sulfotyrosine1 Publication
Modified residuei294 – 2941Sulfotyrosine1 Publication
Modified residuei295 – 2951Sulfotyrosine1 Publication
Glycosylationi308 – 3081O-linked (GalNAc...)
Disulfide bondi526 – 526Interchain (with C-147 in GP1BB)2 Publications
Disulfide bondi527 – 527Interchain (with C-147 in GP1BB)2 Publications
Modified residuei629 – 6291Phosphoserine1 Publication
Modified residuei632 – 6321Phosphoserine1 Publication

Post-translational modificationi

Glycocalicin, which is approximately coextensive with the extracellular part of the molecule, is cleaved off by calpain during platelet lysis.

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein, Sulfation

Proteomic databases

PaxDbiP07359.
PRIDEiP07359.

PTM databases

PhosphoSiteiP07359.
UniCarbKBiP07359.

Miscellaneous databases

PMAP-CutDBP07359.

Expressioni

Gene expression databases

ArrayExpressiP07359.
BgeeiP07359.
CleanExiHS_GP1BA.
GenevestigatoriP07359.

Organism-specific databases

HPAiCAB002496.
HPA013316.

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. Interacts with FLNB.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
VWFP042752EBI-297082,EBI-981819

Protein-protein interaction databases

IntActiP07359. 10 interactions.
MINTiMINT-147226.
STRINGi9606.ENSP00000329380.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi19 – 235
Beta strandi30 – 323
Beta strandi51 – 533
Beta strandi60 – 634
Helixi64 – 674
Beta strandi75 – 773
Beta strandi85 – 873
Beta strandi97 – 993
Turni112 – 1143
Beta strandi120 – 1223
Turni135 – 1384
Beta strandi144 – 1463
Turni157 – 1626
Beta strandi168 – 1703
Turni181 – 1866
Beta strandi192 – 1943
Turni205 – 2106
Beta strandi214 – 2174
Helixi227 – 2293
Helixi230 – 2389
Helixi240 – 2423
Beta strandi243 – 2497
Helixi252 – 2543
Helixi259 – 2613
Beta strandi262 – 2643
Turni265 – 2684
Helixi272 – 2743
Beta strandi283 – 2875
Beta strandi605 – 6139

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1GWBX-ray2.80A/B16-296[»]
1K13model-A52-216[»]
1M0ZX-ray1.85A/B17-306[»]
1M10X-ray3.10B17-306[»]
1OOKX-ray2.30G17-306[»]
1P8VX-ray2.60A17-294[»]
1P9AX-ray1.70G17-306[»]
1QYYX-ray2.80A/G17-306[»]
1SQ0X-ray2.60B17-304[»]
1U0NX-ray2.95D17-281[»]
2BP3X-ray2.32S/T598-619[»]
3P72X-ray1.90A17-281[»]
3PMHX-ray3.20G17-306[»]
4C2AX-ray2.08B17-306[»]
4C2BX-ray2.80B/D/F/H17-306[»]
4CH2X-ray1.60P/Q287-300[»]
4CH8X-ray1.75P/Q/R/S287-300[»]
4MGXX-ray3.16B603-611[»]
ProteinModelPortaliP07359.

Miscellaneous databases

EvolutionaryTraceiP07359.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini17 – 4731LRRNT
Add
BLAST
Repeati48 – 6821LRR 1
Add
BLAST
Repeati72 – 9322LRR 2
Add
BLAST
Repeati94 – 11522LRR 3
Add
BLAST
Repeati117 – 13721LRR 4
Add
BLAST
Repeati141 – 16222LRR 5
Add
BLAST
Repeati165 – 18622LRR 6
Add
BLAST
Repeati189 – 21022LRR 7
Add
BLAST
Domaini221 – 28262LRRCT
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi345 – 482138Pro/Thr-rich
Add
BLAST

Sequence similaritiesi

Contains 1 LRRCT domain.
Contains 1 LRRNT domain.

Keywords - Domaini

Leucine-rich repeat, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG294000.
HOVERGENiHBG051790.
InParanoidiP07359.
KOiK06261.
OMAiTVPRAWL.
OrthoDBiEOG7GBFXK.
PhylomeDBiP07359.
TreeFamiTF351114.

Family and domain databases

InterProiIPR000483. Cys-rich_flank_reg_C.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR000372. LRR-contain_N.
[Graphical view]
PfamiPF00560. LRR_1. 1 hit.
PF13504. LRR_7. 1 hit.
PF13855. LRR_8. 1 hit.
PF01462. LRRNT. 1 hit.
[Graphical view]
SMARTiSM00369. LRR_TYP. 2 hits.
SM00082. LRRCT. 1 hit.
SM00013. LRRNT. 1 hit.
[Graphical view]
PROSITEiPS51450. LRR. 6 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

P07359-1 [UniParc]FASTAAdd to Basket

« Hide

MPLLLLLLLL PSPLHPHPIC EVSKVASHLE VNCDKRNLTA LPPDLPKDTT    50
ILHLSENLLY TFSLATLMPY TRLTQLNLDR CELTKLQVDG TLPVLGTLDL 100
SHNQLQSLPL LGQTLPALTV LDVSFNRLTS LPLGALRGLG ELQELYLKGN 150
ELKTLPPGLL TPTPKLEKLS LANNNLTELP AGLLNGLENL DTLLLQENSL 200
YTIPKGFFGS HLLPFAFLHG NPWLCNCEIL YFRRWLQDNA ENVYVWKQGV 250
DVKAMTSNVA SVQCDNSDKF PVYKYPGKGC PTLGDEGDTD LYDYYPEEDT 300
EGDKVRATRT VVKFPTKAHT TPWGLFYSWS TASLDSQMPS SLHPTQESTK 350
EQTTFPPRWT PNFTLHMESI TFSKTPKSTT EPTPSPTTSE PVPEPAPNMT 400
TLEPTPSPTT PEPTSEPAPS PTTPEPTSEP APSPTTPEPT SEPAPSPTTP 450
EPTPIPTIAT SPTILVSATS LITPKSTFLT TTKPVSLLES TKKTIPELDQ 500
PPKLRGVLQG HLESSRNDPF LHPDFCCLLP LGFYVLGLFW LLFASVVLIL 550
LLSWVGHVKP QALDSGQGAA LTTATQTTHL ELQRGRQVTV PRAWLLFLRG 600
SLPTFRSSLF LWVRPNGRVG PLVAGRRPSA LSQGRGQDLL STVSIRYSGH 650
SL 652
Length:652
Mass (Da):71,540
Last modified:April 16, 2014 - v2
Checksum:i053346683AEB927E
GO

Polymorphismi

Position 161 is associated with platelet-specific alloantigen Siba. Siba- has Thr-161 and Siba+ has Met-161. Siba is involved in neonatal alloimmune thrombocytopenia (NATP).
Polymorphisms arise from a variable number of tandem 13-amino acid repeats of S-E-P-A-P-S-P-T-T-P-E-P-T in the mucin-like macroglycopeptide (Pro/Thr-rich) domain. Allele D contains one repeat starting at position 415, allele C contains two repeats, allele B (shown here) contains three repeats and allele A contains four repeats. Allele B is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti72 – 721R → H.1 Publication
Corresponds to variant rs6068 [ dbSNP | Ensembl ].
VAR_011909
Natural varianti73 – 731L → F in BSS. 1 Publication
VAR_014206
Natural varianti81 – 811C → R in BSS. 1 Publication
VAR_005256
Natural varianti86 – 861L → F.1 Publication
Corresponds to variant rs13306411 [ dbSNP | Ensembl ].
VAR_013511
Natural varianti145 – 1451L → P in BSS. 1 Publication
VAR_014207
Natural varianti161 – 1611T → M in Siba(+). 4 Publications
Corresponds to variant rs6065 [ dbSNP | Ensembl ].
VAR_005257
Natural varianti172 – 1721A → V in BSS and BSSA2. 2 Publications
VAR_005258
Natural varianti195 – 1951Missing in BSS. 1 Publication
VAR_005259
Natural varianti225 – 2251C → S in BSS. 1 Publication
VAR_005260
Natural varianti249 – 2491G → S in VWDP. 1 Publication
VAR_019657
Natural varianti249 – 2491G → V in VWDP. 2 Publications
VAR_005261
Natural varianti254 – 2541A → S.
Corresponds to variant rs382524 [ dbSNP | Ensembl ].
VAR_011910
Natural varianti255 – 2551M → V in VWDP; increased binding to vWF. 2 Publications
VAR_005262

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti619 – 6191V → L in AAH27955. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
J02940 mRNA. Translation: AAA52595.1.
M22403 Genomic DNA. Translation: AAA52596.1.
AB038516 Genomic DNA. Translation: BAB12038.1.
AB086948 Genomic DNA. Translation: BAC10305.1.
AF395009 Genomic DNA. Translation: AAK71325.1.
AC233723 Genomic DNA. No translation available.
BC027955 mRNA. Translation: AAH27955.1.
D85894 Genomic DNA. Translation: BAA12911.1.
S34436 Genomic DNA. Translation: AAB22152.1.
S34439 Genomic DNA. Translation: AAB22153.1.
L39103 Genomic DNA. Translation: AAA69491.1.
CCDSiCCDS54068.1.
PIRiA94174. NBHUIA.
I70082.
RefSeqiNP_000164.5. NM_000173.5.
UniGeneiHs.1472.

Genome annotation databases

EnsembliENST00000329125; ENSP00000329380; ENSG00000185245.
GeneIDi2811.
KEGGihsa:2811.

Polymorphism databases

DMDMi121531.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

SeattleSNPs

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
J02940 mRNA. Translation: AAA52595.1 .
M22403 Genomic DNA. Translation: AAA52596.1 .
AB038516 Genomic DNA. Translation: BAB12038.1 .
AB086948 Genomic DNA. Translation: BAC10305.1 .
AF395009 Genomic DNA. Translation: AAK71325.1 .
AC233723 Genomic DNA. No translation available.
BC027955 mRNA. Translation: AAH27955.1 .
D85894 Genomic DNA. Translation: BAA12911.1 .
S34436 Genomic DNA. Translation: AAB22152.1 .
S34439 Genomic DNA. Translation: AAB22153.1 .
L39103 Genomic DNA. Translation: AAA69491.1 .
CCDSi CCDS54068.1.
PIRi A94174. NBHUIA.
I70082.
RefSeqi NP_000164.5. NM_000173.5.
UniGenei Hs.1472.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1GWB X-ray 2.80 A/B 16-296 [» ]
1K13 model - A 52-216 [» ]
1M0Z X-ray 1.85 A/B 17-306 [» ]
1M10 X-ray 3.10 B 17-306 [» ]
1OOK X-ray 2.30 G 17-306 [» ]
1P8V X-ray 2.60 A 17-294 [» ]
1P9A X-ray 1.70 G 17-306 [» ]
1QYY X-ray 2.80 A/G 17-306 [» ]
1SQ0 X-ray 2.60 B 17-304 [» ]
1U0N X-ray 2.95 D 17-281 [» ]
2BP3 X-ray 2.32 S/T 598-619 [» ]
3P72 X-ray 1.90 A 17-281 [» ]
3PMH X-ray 3.20 G 17-306 [» ]
4C2A X-ray 2.08 B 17-306 [» ]
4C2B X-ray 2.80 B/D/F/H 17-306 [» ]
4CH2 X-ray 1.60 P/Q 287-300 [» ]
4CH8 X-ray 1.75 P/Q/R/S 287-300 [» ]
4MGX X-ray 3.16 B 603-611 [» ]
ProteinModelPortali P07359.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

IntActi P07359. 10 interactions.
MINTi MINT-147226.
STRINGi 9606.ENSP00000329380.

PTM databases

PhosphoSitei P07359.
UniCarbKBi P07359.

Polymorphism databases

DMDMi 121531.

Proteomic databases

PaxDbi P07359.
PRIDEi P07359.

Protocols and materials databases

DNASUi 2811.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000329125 ; ENSP00000329380 ; ENSG00000185245 .
GeneIDi 2811.
KEGGi hsa:2811.

Organism-specific databases

CTDi 2811.
GeneCardsi GC17P004835.
H-InvDB HIX0212275.
HGNCi HGNC:4439. GP1BA.
HPAi CAB002496.
HPA013316.
MIMi 153670. phenotype.
177820. phenotype.
231200. phenotype.
258660. phenotype.
606672. gene.
neXtProti NX_P07359.
Orphaneti 274. Bernard-Soulier syndrome.
853. Fetal and neonatal alloimmune thrombocytopenia.
52530. Von Willebrand disease, platelet type.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG294000.
HOVERGENi HBG051790.
InParanoidi P07359.
KOi K06261.
OMAi TVPRAWL.
OrthoDBi EOG7GBFXK.
PhylomeDBi P07359.
TreeFami TF351114.

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.
SignaLinki P07359.

Miscellaneous databases

EvolutionaryTracei P07359.
NextBioi 11075.
PMAP-CutDB P07359.
PROi P07359.
SOURCEi Search...

Gene expression databases

ArrayExpressi P07359.
Bgeei P07359.
CleanExi HS_GP1BA.
Genevestigatori P07359.

Family and domain databases

InterProi IPR000483. Cys-rich_flank_reg_C.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR000372. LRR-contain_N.
[Graphical view ]
Pfami PF00560. LRR_1. 1 hit.
PF13504. LRR_7. 1 hit.
PF13855. LRR_8. 1 hit.
PF01462. LRRNT. 1 hit.
[Graphical view ]
SMARTi SM00369. LRR_TYP. 2 hits.
SM00082. LRRCT. 1 hit.
SM00013. LRRNT. 1 hit.
[Graphical view ]
PROSITEi PS51450. LRR. 6 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning of the alpha chain of human platelet glycoprotein Ib: a transmembrane protein with homology to leucine-rich alpha 2-glycoprotein."
    Lopez J.A., Chung D.W., Fujikawa K., Hagen F.S., Papayannopoulou T., Roth G.J.
    Proc. Natl. Acad. Sci. U.S.A. 84:5615-5619(1987) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], PARTIAL PROTEIN SEQUENCE.
  2. "Structure of the human blood platelet membrane glycoprotein Ib alpha gene."
    Wenger R.H., Kieffer N., Wicki A.N., Clemetson K.J.
    Biochem. Biophys. Res. Commun. 156:389-395(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "A novel polymorphism, 70Leu/Phe, disrupts a consensus Leu residue within the leucine-rich repeat sequence of platelet glycoprotein Ibalpha."
    Matsubara Y., Murata M., Moriki T., Yokoyama K., Watanabe N., Nakajima H., Handa M., Kawano K., Aoki N., Yoshino H., Ikeda Y.
    Thromb. Haemost. 87:867-872(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT PHE-86.
  4. "Identification of a novel point mutation in platelet glycoprotein Ibalpha, Gly to Ser at residue 233, in a Japanese family with platelet-type von Willebrand disease."
    Matsubara Y., Murata M., Sugita K., Ikeda Y.
    J. Thromb. Haemost. 1:2198-2205(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT VWDP SER-249, CHARACTERIZATION OF VARIANT VWDP VAL-255, MUTAGENESIS OF GLY-249.
  5. SeattleSNPs variation discovery resource
    Submitted (JUN-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT MET-161.
  6. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "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].
    Tissue: Lung.
  8. "Amino acid sequence of the von Willebrand factor-binding domain of platelet membrane glycoprotein Ib."
    Titani K., Takio K., Handa M., Ruggeri Z.M.
    Proc. Natl. Acad. Sci. U.S.A. 84:5610-5614(1987) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 17-315, STRUCTURE OF CARBOHYDRATE.
  9. "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 128-137.
    Tissue: Platelet.
  10. "StyI polymorphism at nucleotide 1610 in the human platelet glycoprotein Ib alpha gene."
    Suzuki K., Hayashi T., Akiba J., Yahagi A., Tajima K., Satoh S., Sasaki H.
    Jpn. J. Hum. Genet. 41:419-421(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 305-397.
  11. "Identification of the disulphide bonds in human platelet glycocalicin."
    Hess D., Schaller J., Rickli E.E., Clemetson K.J.
    Eur. J. Biochem. 199:389-393(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: DISULFIDE BONDS.
  12. "Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ibalpha."
    Takafuta T., Wu G., Murphy G.F., Shapiro S.S.
    J. Biol. Chem. 273:17531-17538(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH FLNB.
    Tissue: Endothelial cell and Placenta.
  13. "Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach."
    Lewandrowski U., Moebius J., Walter U., Sickmann A.
    Mol. Cell. Proteomics 5:226-233(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-37.
    Tissue: Platelet.
  14. "Glycoprotein Ibalpha forms disulfide bonds with 2 glycoprotein Ibbeta subunits in the resting platelet."
    Luo S.Z., Mo X., Afshar-Kharghan V., Srinivasan S., Lopez J.A., Li R.
    Blood 109:603-609(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBUNIT, INTERCHAIN DISULFIDE BONDS.
  15. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-629 AND SER-632, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Platelet.
  16. "Crystal structure of the platelet glycoprotein Ibalpha N-terminal domain reveals an unmasking mechanism for receptor activation."
    Uff S., Clemetson J.M., Harrison T., Clemetson K.J., Emsley J.
    J. Biol. Chem. 277:35657-35663(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS) OF 17-304, SULFATION AT TYR-292; TYR-294 AND TYR-295.
  17. "Structures of glycoprotein Ibalpha and its complex with von Willebrand factor A1 domain."
    Huizinga E.G., Tsuji S., Romijn R.A., Schiphorst M.E., de Groot P.G., Sixma J.J., Gros P.
    Science 297:1176-1179(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (1.85 ANGSTROMS).
  18. "Molecular modeling of the seven tandem leucine-rich repeats within the ligand-binding region of platelet glycoprotein Ib alpha."
    Whisstock J.C., Shen Y., Lopez J.A., Andrews R.K., Berndt M.C.
    Thromb. Haemost. 87:329-333(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: 3D-STRUCTURE MODELING OF 52-216.
  19. "Genetic and structural characterization of an amino acid dimorphism in glycoprotein Ib alpha involved in platelet transfusion refractoriness."
    Murata M., Furihata K., Ishida F., Russell S.R., Ware J., Ruggeri Z.M.
    Blood 79:3086-3090(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SIBA MET-161.
  20. "Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease."
    Miller J.L., Lyle V.A., Cunningham D.
    Blood 79:439-446(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BSS PHE-73.
  21. "Polymorphism of human glycoprotein Ib alpha results from a variable number of tandem repeats of a 13-amino acid sequence in the mucin-like macroglycopeptide region. Structure/function implications."
    Lopez J.A., Ludwig E.H., McCarthy B.J.
    J. Biol. Chem. 267:10055-10061(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: POLYMORPHISM OF PRO/THR-RICH DOMAIN.
  22. "Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome."
    Ware J., Russell S.R., Marchese P., Murata M., Mazzucato M., de Marco L., Ruggeri Z.M.
    J. Clin. Invest. 92:1213-1220(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BSS VAL-172.
  23. "Cys209 Ser mutation in the platelet membrane glycoprotein Ib alpha gene is associated with Bernard-Soulier syndrome."
    Simsek S., Noris P., Lozano M., Pico M., von Dem Borne A.E.G.K., Ribera A., Gallardo D.
    Br. J. Haematol. 88:839-844(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BSS SER-225.
  24. "Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease."
    Miller J.L., Cunningham D., Lyle V.A., Finch C.N.
    Proc. Natl. Acad. Sci. U.S.A. 88:4761-4765(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT VWDP VAL-249.
  25. "Expression of the phenotypic abnormality of platelet-type von Willebrand disease in a recombinant glycoprotein Ib alpha fragment."
    Murata M., Russell S.R., Ruggeri Z.M., Ware J.
    J. Clin. Invest. 91:2133-2137(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT VWDP VAL-249.
  26. "Pseudo-von Willebrand disease: a mutation in the platelet glycoprotein Ib alpha gene associated with a hyperactive surface receptor."
    Russell S.D., Roth G.J.
    Blood 81:1787-1791(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT VWDP VAL-255.
  27. "The largest variant of platelet glycoprotein Ib alpha has four tandem repeats of 13 amino acids in the macroglycopeptide region and a genetic linkage with methionine145."
    Ishida F., Furihata K., Ishida K., Yan J., Kitano K., Kiyosawa K., Furuta S.
    Blood 86:1357-1360(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SIBA MET-161, POLYMORPHISM OF PRO/THR-RICH DOMAIN.
  28. "A three-base deletion removing a leucine residue in a leucine-rich repeat of platelet glycoprotein Ib alpha associated with a variant of Bernard-Soulier syndrome (Nancy I)."
    de la Salle C., Baas M.-J., Lanza F., Schwartz A., Hanau D., Chevalier J., Gachet C., Briquel M.-E., Cazenave J.-P.
    Br. J. Haematol. 89:386-396(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BSS LEU-195 DEL.
  29. "Naturally occurring mutations in glycoprotein Ibalpha that result in defective ligand binding and synthesis of a truncated protein."
    Kenny D., Jonsson O.G., Morateck P.A., Montgomery R.R.
    Blood 92:175-183(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BSS ARG-81.
  30. Cited for: VARIANTS HIS-72 AND MET-161.
  31. "Molecular characterization of two mutations in platelet glycoprotein (GP) Ib alpha in two Finnish Bernard-Soulier syndrome families."
    Koskela S., Partanen J., Salmi T.T., Kekomaki R.
    Eur. J. Haematol. 62:160-168(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BSS PRO-145.
  32. "Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome."
    Savoia A., Balduini C.L., Savino M., Noris P., Del Vecchio M., Perrotta S., Belletti S., Poggi V., Iolascon A.
    Blood 97:1330-1335(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BSSA2 VAL-172.
  33. "Nonarteritic anterior ischemic optic neuropathy is associated with a specific platelet polymorphism located on the glycoprotein Ibalpha gene."
    Salomon O., Rosenberg N., Steinberg D.M., Huna-Baron R., Moisseiev J., Dardik R., Goldan O., Kurtz S., Ifrah A., Seligsohn U.
    Ophthalmology 111:184-188(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO NAION.

Entry informationi

Entry nameiGP1BA_HUMAN
AccessioniPrimary (citable) accession number: P07359
Secondary accession number(s): E7ES66
, Q14441, Q16469, Q8N1F3, Q8NG39, Q9HDC7, Q9UEK1, Q9UQS4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 1, 1988
Last sequence update: April 16, 2014
Last modified: September 3, 2014
This is version 189 of the entry and version 2 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.
Binding sites for vWF and thrombin (the latter site with unknown function) are in the N-terminal part of the molecule.

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 17
    Human chromosome 17: 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

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