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Protein

Platelet glycoprotein Ib beta chain

Gene

GP1BB

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 von Willebrand factor, 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.

GO - Molecular functioni

  • identical protein binding Source: IntAct
  • transmembrane signaling receptor activity Source: ProtInc

GO - Biological processi

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)
SignaLinkiP13224
SIGNORiP13224

Names & Taxonomyi

Protein namesi
Recommended name:
Platelet glycoprotein Ib beta chain
Short name:
GP-Ib beta
Short name:
GPIb-beta
Short name:
GPIbB
Alternative name(s):
Antigen CD42b-beta
CD_antigen: CD42c
Gene namesi
Name:GP1BB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000203618.5
HGNCiHGNC:4440 GP1BB
MIMi138720 gene
neXtProtiNX_P13224

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 domaini27 – 147ExtracellularSequence analysisAdd BLAST121
Transmembranei148 – 172HelicalSequence analysisAdd BLAST25
Topological domaini173 – 206CytoplasmicSequence analysisAdd BLAST34

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Bernard-Soulier syndrome (BSS)1 Publication
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_025000113Y → C in BSS. 1 PublicationCorresponds to variant dbSNP:rs121909750EnsemblClinVar.1
Natural variantiVAR_025001133A → P in BSS. 1 PublicationCorresponds to variant dbSNP:rs121909751EnsemblClinVar.1

Keywords - Diseasei

Bernard Soulier syndrome, Disease mutation

Organism-specific databases

DisGeNETi2812
MalaCardsiGP1BB
MIMi231200 phenotype
OpenTargetsiENSG00000203618
Orphaneti567 22q11.2 deletion syndrome
140957 Autosomal dominant macrothrombocytopenia
274 Bernard-Soulier syndrome
853 Fetal and neonatal alloimmune thrombocytopenia
PharmGKBiPA179

Polymorphism and mutation databases

DMDMi121532

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 251 PublicationAdd BLAST25
ChainiPRO_000002134526 – 206Platelet glycoprotein Ib beta chainAdd BLAST181

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi26 ↔ 321 Publication
Disulfide bondi30 ↔ 391 Publication
Glycosylationi66N-linked (GlcNAc...) asparagine2 Publications1
Disulfide bondi93 ↔ 1181 Publication
Disulfide bondi95 ↔ 1411 Publication
Disulfide bondi147Interchain (with C-500 or C-501 in GP1BA)1 Publication
Modified residuei191Phosphoserine; by PKACombined sources1 Publication1
Modified residuei193PhosphothreonineCombined sources1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiP13224
PaxDbiP13224
PeptideAtlasiP13224
PRIDEiP13224
ProteomicsDBi52900
52901 [P13224-2]

2D gel databases

OGPiP13224

PTM databases

iPTMnetiP13224
PhosphoSitePlusiP13224

Expressioni

Tissue specificityi

Expressed in heart and brain.1 Publication

Gene expression databases

BgeeiENSG00000203618 Expressed in 82 organ(s), highest expression level in amygdala
GenevisibleiP13224 HS

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.2 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi109074, 44 interactors
ComplexPortaliCPX-114 Glycoprotein Ib-IX-V complex
CPX-117 Glycoprotein Ib-IX-V-Filamin-A complex
IntActiP13224, 4 interactors
MINTiP13224
STRINGi9606.ENSP00000383382

Structurei

Secondary structure

1206
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP13224
SMRiP13224
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini27 – 55LRRNTAdd BLAST29
Repeati60 – 83LRRAdd BLAST24
Domaini89 – 143LRRCTAdd BLAST55

Keywords - Domaini

Leucine-rich repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0619 Eukaryota
COG4886 LUCA
GeneTreeiENSGT00530000064244
HOGENOMiHOG000060136
HOVERGENiHBG051791
InParanoidiP13224
KOiK06262
OMAiYRDLRCA
OrthoDBiEOG091G0XGH
PhylomeDBiP13224

Family and domain databases

Gene3Di3.80.10.10, 1 hit
InterProiView protein in InterPro
IPR000483 Cys-rich_flank_reg_C
IPR032675 LRR_dom_sf
IPR000372 LRRNT
PfamiView protein in Pfam
PF01463 LRRCT, 1 hit
SMARTiView protein in SMART
SM00082 LRRCT, 1 hit
SM00013 LRRNT, 1 hit

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: P13224-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGSGPRGALS LLLLLLAPPS RPAAGCPAPC SCAGTLVDCG RRGLTWASLP
60 70 80 90 100
TAFPVDTTEL VLTGNNLTAL PPGLLDALPA LRTAHLGANP WRCDCRLVPL
110 120 130 140 150
RAWLAGRPER APYRDLRCVA PPALRGRLLP YLAEDELRAA CAPGPLCWGA
160 170 180 190 200
LAAQLALLGL GLLHALLLVL LLCRLRRLRA RARARAAARL SLTDPLVAER

AGTDES
Length:206
Mass (Da):21,718
Last modified:January 1, 1990 - v1
Checksum:iB5E81EB6F57DE0D9
GO
Isoform 2 (identifier: P13224-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-3: MGS → MIPSRHTMLR...RSAYCGASLA

Show »
Length:411
Mass (Da):43,158
Checksum:i7D84D76AA079DFCF
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_025000113Y → C in BSS. 1 PublicationCorresponds to variant dbSNP:rs121909750EnsemblClinVar.1
Natural variantiVAR_025001133A → P in BSS. 1 PublicationCorresponds to variant dbSNP:rs121909751EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0326711 – 3MGS → MIPSRHTMLRFLPVVNAASC PGDRRTMLVNVAAGVRVLRV PLRAGGSGSLSGLRPPAIVC YLPLQRASAASGLFLARPQH CGRCGRGRGGAALSLGSPAY ASRCRVSRAAVFSPWAPVSL ESGRAPGCSLGRPGLRGALV VWLQLGETWVRLRGDFQPAC GVVRVERLAGYRDAGHQGLD GAGPAVWVLRDVAQVPADRS AYCGASLA in isoform 2. 1 Publication3

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
J03259 mRNA Translation: AAA52594.1
AF006988 Genomic DNA Translation: AAC39781.1
L20860 mRNA Translation: AAA20398.1
U59632 mRNA Translation: AAB93437.1
AB086231 Genomic DNA Translation: BAC00777.1
CCDSiCCDS42980.1 [P13224-1]
PIRiA54137 NBHUIB
I55604
RefSeqiNP_000398.1, NM_000407.4 [P13224-1]
UniGeneiHs.283743
Hs.728762

Genome annotation databases

EnsembliENST00000366425; ENSP00000383382; ENSG00000203618 [P13224-1]
GeneIDi2812
KEGGihsa:2812
UCSCiuc062bnf.1 human [P13224-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
J03259 mRNA Translation: AAA52594.1
AF006988 Genomic DNA Translation: AAC39781.1
L20860 mRNA Translation: AAA20398.1
U59632 mRNA Translation: AAB93437.1
AB086231 Genomic DNA Translation: BAC00777.1
CCDSiCCDS42980.1 [P13224-1]
PIRiA54137 NBHUIB
I55604
RefSeqiNP_000398.1, NM_000407.4 [P13224-1]
UniGeneiHs.283743
Hs.728762

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3REZX-ray2.35A/B/C/D26-146[»]
3RFEX-ray1.24A/B26-146[»]
ProteinModelPortaliP13224
SMRiP13224
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109074, 44 interactors
ComplexPortaliCPX-114 Glycoprotein Ib-IX-V complex
CPX-117 Glycoprotein Ib-IX-V-Filamin-A complex
IntActiP13224, 4 interactors
MINTiP13224
STRINGi9606.ENSP00000383382

PTM databases

iPTMnetiP13224
PhosphoSitePlusiP13224

Polymorphism and mutation databases

DMDMi121532

2D gel databases

OGPiP13224

Proteomic databases

MaxQBiP13224
PaxDbiP13224
PeptideAtlasiP13224
PRIDEiP13224
ProteomicsDBi52900
52901 [P13224-2]

Protocols and materials databases

DNASUi2812
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000366425; ENSP00000383382; ENSG00000203618 [P13224-1]
GeneIDi2812
KEGGihsa:2812
UCSCiuc062bnf.1 human [P13224-1]

Organism-specific databases

CTDi2812
DisGeNETi2812
EuPathDBiHostDB:ENSG00000203618.5
GeneCardsiGP1BB
HGNCiHGNC:4440 GP1BB
MalaCardsiGP1BB
MIMi138720 gene
231200 phenotype
neXtProtiNX_P13224
OpenTargetsiENSG00000203618
Orphaneti567 22q11.2 deletion syndrome
140957 Autosomal dominant macrothrombocytopenia
274 Bernard-Soulier syndrome
853 Fetal and neonatal alloimmune thrombocytopenia
PharmGKBiPA179
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0619 Eukaryota
COG4886 LUCA
GeneTreeiENSGT00530000064244
HOGENOMiHOG000060136
HOVERGENiHBG051791
InParanoidiP13224
KOiK06262
OMAiYRDLRCA
OrthoDBiEOG091G0XGH
PhylomeDBiP13224

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)
SignaLinkiP13224
SIGNORiP13224

Miscellaneous databases

GeneWikiiGP1BB
GenomeRNAii2812
PROiPR:P13224
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000203618 Expressed in 82 organ(s), highest expression level in amygdala
GenevisibleiP13224 HS

Family and domain databases

Gene3Di3.80.10.10, 1 hit
InterProiView protein in InterPro
IPR000483 Cys-rich_flank_reg_C
IPR032675 LRR_dom_sf
IPR000372 LRRNT
PfamiView protein in Pfam
PF01463 LRRCT, 1 hit
SMARTiView protein in SMART
SM00082 LRRCT, 1 hit
SM00013 LRRNT, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGP1BB_HUMAN
AccessioniPrimary (citable) accession number: P13224
Secondary accession number(s): Q14422, Q8NG40
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: January 1, 1990
Last modified: November 7, 2018
This is version 173 of the entry and version 1 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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