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UniProtKB - P07359 (GP1BA_HUMAN)

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Protein

Platelet glycoprotein Ib alpha chain

Gene

GP1BA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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.

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.

GO - Molecular functioni

  • protein kinase inhibitor activity Source: GO_Central
  • thrombin-activated receptor activity Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • blood coagulation Source: MGI
  • blood coagulation, intrinsic pathway Source: Reactome
  • cell adhesion Source: MGI
  • cell morphogenesis Source: Ensembl
  • cell surface receptor signaling pathway Source: ProtInc
  • cytokine-mediated signaling pathway Source: GO_Central
  • fibrinolysis Source: UniProtKB
  • negative regulation of JAK-STAT cascade Source: GO_Central
  • negative regulation of protein kinase activity Source: GO_Central
  • platelet activation Source: UniProtKB
  • platelet aggregation Source: Ensembl
  • regulation of blood coagulation Source: UniProtKB
  • regulation of megakaryocyte differentiation Source: Reactome
View the complete GO annotation on QuickGO ...

Keywordsi

Biological processBlood coagulation, Cell adhesion, Hemostasis

Enzyme and pathway databases

ReactomeiR-HSA-140837 Intrinsic Pathway of Fibrin Clot Formation
R-HSA-430116 GP1b-IX-V activation signalling
R-HSA-75892 Platelet Adhesion to exposed collagen
R-HSA-76009 Platelet Aggregation (Plug Formation)
R-HSA-8936459 RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
SignaLinkiP07359
SIGNORiP07359

Protein family/group databases

MoonDBiP07359 Predicted

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:
Glycocalicin
Gene namesi
Name:GP1BA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000185245.7
HGNCiHGNC:4439 GP1BA
MIMi606672 gene
neXtProtiNX_P07359

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini17 – 531ExtracellularSequence analysisAdd BLAST515
Transmembranei532 – 552HelicalSequence analysisAdd BLAST21
Topological domaini553 – 652CytoplasmicSequence analysisAdd BLAST100

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Non-arteritic anterior ischemic optic neuropathy (NAION)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:258660
Bernard-Soulier syndrome (BSS)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, thrombocytopenia, and impaired prothrombin consumption.
See also OMIM:231200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01420673L → F in BSS. 1 PublicationCorresponds to variant dbSNP:rs121908063EnsemblClinVar.1
Natural variantiVAR_00525681C → R in BSS. 1 PublicationCorresponds to variant dbSNP:rs781541857Ensembl.1
Natural variantiVAR_014207145L → P in BSS. 1 PublicationCorresponds to variant dbSNP:rs771048666Ensembl.1
Natural variantiVAR_005259195Missing in BSS. 1 Publication1
Natural variantiVAR_005260225C → S in BSS. 1 Publication1
Bernard-Soulier syndrome A2, autosomal dominant (BSSA2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:153670
Pseudo-von Willebrand disease (VWDP)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:177820
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_019657249G → S in VWDP. 1 Publication1
Natural variantiVAR_005261249G → V in VWDP. 2 PublicationsCorresponds to variant dbSNP:rs121908062EnsemblClinVar.1
Natural variantiVAR_005262255M → V in VWDP; increased binding to vWF. 2 PublicationsCorresponds to variant dbSNP:rs121908064EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi249G → A: No change. 1 Publication1
Mutagenesisi249G → K or D: Decreased binding to vWF. 1 Publication1
Mutagenesisi249G → S or V: Increased binding to vWF. 1 Publication1

Keywords - Diseasei

Bernard Soulier syndrome, Disease mutation, von Willebrand disease

Organism-specific databases

DisGeNETi2811
MalaCardsiGP1BA
MIMi153670 phenotype
177820 phenotype
231200 phenotype
258660 phenotype
OpenTargetsiENSG00000185245
Orphaneti274 Bernard-Soulier syndrome
853 Fetal and neonatal alloimmune thrombocytopenia
52530 Pseudo-von Willebrand disease

Chemistry databases

DrugBankiDB05202 ARC1779
DB05391 liposomal prostaglandin E1

Polymorphism and mutation databases

DMDMi121531

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 161 PublicationAdd BLAST16
ChainiPRO_000002134317 – 652Platelet glycoprotein Ib alpha chainAdd BLAST636
ChainiPRO_000002134417 – ?Glycocalicin

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi20 ↔ 331 Publication
Glycosylationi37N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi175N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi225 ↔ 2641 Publication
Disulfide bondi227 ↔ 2801 Publication
Modified residuei292Sulfotyrosine1 Publication1
Modified residuei294Sulfotyrosine1 Publication1
Modified residuei295Sulfotyrosine1 Publication1
Glycosylationi308O-linked (GalNAc...) threonine1 Publication1
Disulfide bondi526Interchain (with C-147 in GP1BB)1 Publication
Disulfide bondi527Interchain (with C-147 in GP1BB)1 Publication
Modified residuei629PhosphoserineCombined sources1
Modified residuei632PhosphoserineCombined sources1

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
PeptideAtlasiP07359
PRIDEiP07359
ProteomicsDBi51999

PTM databases

GlyConnecti176
iPTMnetiP07359
PhosphoSitePlusiP07359
UniCarbKBiP07359

Miscellaneous databases

PMAP-CutDBiP07359

Expressioni

Gene expression databases

BgeeiENSG00000185245
CleanExiHS_GP1BA
ExpressionAtlasiP07359 baseline and differential
GenevisibleiP07359 HS

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 (PubMed:17008541, PubMed:2070794). Interacts with FLNB (PubMed:9651345). Interacts with FLNA (via filamin repeats 4, 9, 12, 17, 19, 21, and 23) (PubMed:19828450).4 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi109073, 10 interactors
ComplexPortaliCPX-114 Glycoprotein Ib-IX-V complex
CPX-117 Glycoprotein Ib-IX-V-Filamin-A complex
CORUMiP07359
IntActiP07359, 12 interactors
MINTiP07359
STRINGi9606.ENSP00000329380

Structurei

Secondary structure

1652
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi19 – 23Combined sources5
Beta strandi30 – 32Combined sources3
Beta strandi51 – 53Combined sources3
Beta strandi60 – 63Combined sources4
Helixi64 – 67Combined sources4
Beta strandi75 – 77Combined sources3
Beta strandi85 – 87Combined sources3
Beta strandi97 – 99Combined sources3
Turni112 – 114Combined sources3
Beta strandi120 – 122Combined sources3
Turni135 – 138Combined sources4
Beta strandi144 – 146Combined sources3
Turni157 – 162Combined sources6
Beta strandi168 – 170Combined sources3
Turni181 – 186Combined sources6
Beta strandi192 – 194Combined sources3
Turni205 – 210Combined sources6
Beta strandi214 – 217Combined sources4
Helixi227 – 229Combined sources3
Helixi230 – 238Combined sources9
Helixi240 – 242Combined sources3
Beta strandi243 – 249Combined sources7
Helixi252 – 254Combined sources3
Helixi259 – 261Combined sources3
Beta strandi262 – 264Combined sources3
Turni265 – 268Combined sources4
Helixi272 – 274Combined sources3
Beta strandi283 – 287Combined sources5
Beta strandi291 – 293Combined sources3
Helixi507 – 509Combined sources3
Beta strandi605 – 613Combined sources9

3D structure databases

ProteinModelPortaliP07359
SMRiP07359
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP07359

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini17 – 47LRRNTAdd BLAST31
Repeati48 – 68LRR 1Add BLAST21
Repeati72 – 93LRR 2Add BLAST22
Repeati94 – 115LRR 3Add BLAST22
Repeati117 – 137LRR 4Add BLAST21
Repeati141 – 162LRR 5Add BLAST22
Repeati165 – 186LRR 6Add BLAST22
Repeati189 – 210LRR 7Add BLAST22
Domaini221 – 282LRRCTAdd BLAST62

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi345 – 482Pro/Thr-richAdd BLAST138

Keywords - Domaini

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

Phylogenomic databases

eggNOGiKOG0619 Eukaryota
COG4886 LUCA
GeneTreeiENSGT00920000148996
HOVERGENiHBG051790
InParanoidiP07359
KOiK06261
OMAiYPGKGCP
OrthoDBiEOG091G08IS
PhylomeDBiP07359
TreeFamiTF351114

Family and domain databases

Gene3Di3.80.10.10, 1 hit
InterProiView protein in InterPro
IPR000483 Cys-rich_flank_reg_C
IPR001611 Leu-rich_rpt
IPR003591 Leu-rich_rpt_typical-subtyp
IPR032675 LRR_dom_sf
IPR000372 LRRNT
PfamiView protein in Pfam
PF13855 LRR_8, 1 hit
PF01462 LRRNT, 1 hit
SMARTiView protein in SMART
SM00369 LRR_TYP, 5 hits
SM00082 LRRCT, 1 hit
SM00013 LRRNT, 1 hit
PROSITEiView protein in PROSITE
PS51450 LRR, 6 hits

Sequencei

Sequence statusi: Complete.

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

P07359-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MPLLLLLLLL PSPLHPHPIC EVSKVASHLE VNCDKRNLTA LPPDLPKDTT 
        60         70         80         90        100
ILHLSENLLY TFSLATLMPY TRLTQLNLDR CELTKLQVDG TLPVLGTLDL 
       110        120        130        140        150
SHNQLQSLPL LGQTLPALTV LDVSFNRLTS LPLGALRGLG ELQELYLKGN 
       160        170        180        190        200
ELKTLPPGLL TPTPKLEKLS LANNNLTELP AGLLNGLENL DTLLLQENSL 
       210        220        230        240        250
YTIPKGFFGS HLLPFAFLHG NPWLCNCEIL YFRRWLQDNA ENVYVWKQGV 
       260        270        280        290        300
DVKAMTSNVA SVQCDNSDKF PVYKYPGKGC PTLGDEGDTD LYDYYPEEDT 
       310        320        330        340        350
EGDKVRATRT VVKFPTKAHT TPWGLFYSWS TASLDSQMPS SLHPTQESTK 
       360        370        380        390        400
EQTTFPPRWT PNFTLHMESI TFSKTPKSTT EPTPSPTTSE PVPEPAPNMT 
       410        420        430        440        450
TLEPTPSPTT PEPTSEPAPS PTTPEPTSEP APSPTTPEPT SEPAPSPTTP 
       460        470        480        490        500
EPTPIPTIAT SPTILVSATS LITPKSTFLT TTKPVSLLES TKKTIPELDQ 
       510        520        530        540        550
PPKLRGVLQG HLESSRNDPF LHPDFCCLLP LGFYVLGLFW LLFASVVLIL 
       560        570        580        590        600
LLSWVGHVKP QALDSGQGAA LTTATQTTHL ELQRGRQVTV PRAWLLFLRG 
       610        620        630        640        650
SLPTFRSSLF LWVRPNGRVG PLVAGRRPSA LSQGRGQDLL STVSIRYSGH 

SL
Length:652
Mass (Da):71,540
Last modified:April 16, 2014 - v2
Checksum:i053346683AEB927E
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti619V → L in AAH27955 (PubMed:15489334).Curated1

Polymorphismi

Position 161 is associated with platelet-specific alloantigen Siba (PubMed:1586750). Siba- has Thr-161 and Siba+ has Met-161 (PubMed:1586750). Siba is involved in neonatal alloimmune thrombocytopenia (NATP) (PubMed:1586750, PubMed:7632942).2 Publications
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 (PubMed:1577776, PubMed:7632942). 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 (PubMed:1577776). Allele B is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy (PubMed:1577776).2 Publications

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01190972R → H1 PublicationCorresponds to variant dbSNP:rs6068Ensembl.1
Natural variantiVAR_01420673L → F in BSS. 1 PublicationCorresponds to variant dbSNP:rs121908063EnsemblClinVar.1
Natural variantiVAR_00525681C → R in BSS. 1 PublicationCorresponds to variant dbSNP:rs781541857Ensembl.1
Natural variantiVAR_01351186L → F1 PublicationCorresponds to variant dbSNP:rs13306411EnsemblClinVar.1
Natural variantiVAR_014207145L → P in BSS. 1 PublicationCorresponds to variant dbSNP:rs771048666Ensembl.1
Natural variantiVAR_005257161T → M in Siba(+). 4 PublicationsCorresponds to variant dbSNP:rs6065EnsemblClinVar.1
Natural variantiVAR_005258172A → V in BSS and BSSA2. 2 PublicationsCorresponds to variant dbSNP:rs121908065EnsemblClinVar.1
Natural variantiVAR_005259195Missing in BSS. 1 Publication1
Natural variantiVAR_005260225C → S in BSS. 1 Publication1
Natural variantiVAR_019657249G → S in VWDP. 1 Publication1
Natural variantiVAR_005261249G → V in VWDP. 2 PublicationsCorresponds to variant dbSNP:rs121908062EnsemblClinVar.1
Natural variantiVAR_011910254A → S. Corresponds to variant dbSNP:rs382524Ensembl.1
Natural variantiVAR_005262255M → V in VWDP; increased binding to vWF. 2 PublicationsCorresponds to variant dbSNP:rs121908064EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_000173.6
UniGeneiHs.1472

Genome annotation databases

EnsembliENST00000329125; ENSP00000329380; ENSG00000185245
GeneIDi2811
KEGGihsa:2811
UCSCiuc021tnz.1 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiGP1BA_HUMAN
AccessioniPrimary (citable) accession number: P07359
Secondary accession number(s): E7ES66
, Q14441, Q16469, Q8N1F3, Q8NG39, Q9HDC7, Q9UEK1, Q9UQS4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1988
Last sequence update: April 16, 2014
Last modified: June 20, 2018
This is version 227 of the entry and version 2 of the sequence. See 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

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

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