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Reviewed, UniProtKB/Swiss-Prot P13224 (GP1BB_HUMAN)

Last modified June 15, 2010. Version 102. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents
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Names and originHide

Protein namesRecommended 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 names
Name:GP1BB
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
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Protein attributesHide

Sequence length206 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level.
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General annotation (Comments)Hide

Function

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.

Subunit structure

GP-Ib alpha and beta are disulfide linked. GP-IX is complexed with the GP-Ib heterodimer via a non covalent linkage.

Subcellular location

Membrane; Single-pass type I membrane protein.

Tissue specificity

Expressed in heart and brain. Ref.3

Involvement in disease

Defects in GP1BB are a cause of Bernard-Soulier syndrome (BSS) [MIM:231200]; also known as giant platelet disease (GPD). BSS patients have unusually large platelets and have a clinical bleeding tendency. Ref.5

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.

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Alternative productsHide

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P13224-1)

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.
Isoform 2 (identifier: P13224-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-3: MGS → MIPSRHTMLR...RSAYCGASLA
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Sequence annotation (Features)Hide

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2626 Ref.6
Chain27 – 206180Platelet glycoprotein Ib beta chain
PRO_0000021345

Regions

Topological domain27 – 147121Extracellular Potential
Transmembrane148 – 17225Helical; Potential
Topological domain173 – 20634Cytoplasmic Potential
Repeat60 – 8324LRR

Amino acid modifications

Modified residue1911Phosphoserine; by PKA Ref.8 Ref.9 Ref.10
Modified residue1931Phosphothreonine Ref.9
Glycosylation661N-linked (GlcNAc...) Ref.1

Natural variations

Alternative sequence1 – 33MGS → MIPSRHTMLRFLPVVNAASC PGDRRTMLVNVAAGVRVLRV PLRAGGSGSLSGLRPPAIVC YLPLQRASAASGLFLARPQH CGRCGRGRGGAALSLGSPAY ASRCRVSRAAVFSPWAPVSL ESGRAPGCSLGRPGLRGALV VWLQLGETWVRLRGDFQPAC GVVRVERLAGYRDAGHQGLD GAGPAVWVLRDVAQVPADRS AYCGASLA in isoform 2.
VSP_032671
Natural variant1131Y → C in BSS. Ref.5
VAR_025000
Natural variant1331A → P in BSS. Ref.5
VAR_025001
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SequencesHide

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 1, 1990. Version 1.
Checksum: B5E81EB6F57DE0D9

FASTA20621,718
        10         20         30         40         50         60 
MGSGPRGALS LLLLLLAPPS RPAAGCPAPC SCAGTLVDCG RRGLTWASLP TAFPVDTTEL 

        70         80         90        100        110        120 
VLTGNNLTAL PPGLLDALPA LRTAHLGANP WRCDCRLVPL RAWLAGRPER APYRDLRCVA 

       130        140        150        160        170        180 
PPALRGRLLP YLAEDELRAA CAPGPLCWGA LAAQLALLGL GLLHALLLVL LLCRLRRLRA 

       190        200 
RARARAAARL SLTDPLVAER AGTDES

« Hide

Isoform 2.

Checksum: 7D84D76AA079DFCF
Show »

FASTA41143,158
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ReferencesHide

« Hide 'large scale' references
[1]"The alpha and beta chains of human platelet glycoprotein Ib are both transmembrane proteins containing a leucine-rich amino acid sequence."
Lopez J.A., Chung D.W., Fujikawa K., Hagen F.S., Davie E.W., Roth G.J.
Proc. Natl. Acad. Sci. U.S.A. 85:2135-2139(1988) [PubMed: 3353370] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), GLYCOSYLATION AT ASN-66.
[2]"Structural characterization and chromosomal location of the gene encoding human platelet glycoprotein Ib beta."
Yagi M., Edelhoff S., Disteche C.M., Roth G.J.
J. Biol. Chem. 269:17424-17427(1994) [PubMed: 8021244] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Tissue: Brain.
[3]"Complementary DNA cloning of the alternatively expressed endothelial cell glycoprotein Ib beta (GPIb beta) and localization of the GPIb beta gene to chromosome 22."
Kelly M.D., Essex D.W., Shapiro S.S., Meloni F.J., Druck T., Huebner K., Konkle B.A.
J. Clin. Invest. 93:2417-2424(1994) [PubMed: 8200976] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY.
Tissue: Umbilical vein.
[4]"Alternative expression of platelet glycoprotein Ib(beta) mRNA from an adjacent 5' gene with an imperfect polyadenylation signal sequence."
Zieger B., Hashimoto Y., Ware J.
J. Clin. Invest. 99:520-525(1997) [PubMed: 9022087] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[5]"Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder."
Kunishima S., Lopez J.A., Kobayashi S., Imai N., Kamiya T., Saito H., Naoe T.
Blood 89:2404-2412(1997) [PubMed: 9116284] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 11-206, VARIANTS BSS CYS-113 AND PRO-133.
[6]"Isolation and characterization of the alpha and beta chains of human platelet glycoprotein Ib."
Canfield V.A., Ozols J., Nugent D., Roth G.J.
Biochem. Biophys. Res. Commun. 147:526-534(1987) [PubMed: 3632685] [Abstract]
Cited for: PROTEIN SEQUENCE OF 27-40.
[7]"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: 12665801] [Abstract]
Cited for: PROTEIN SEQUENCE OF 83-92 AND 190-200.
Tissue: Platelet.
[8]"Platelet glycoprotein Ib beta is phosphorylated on serine 166 by cyclic AMP-dependent protein kinase."
Wardell M.R., Reynolds C.C., Berndt M.C., Wallace R.W., Fox J.E.B.
J. Biol. Chem. 264:15656-15661(1989) [PubMed: 2504723] [Abstract]
Cited for: PHOSPHORYLATION AT SER-191, PROTEIN SEQUENCE OF 186-200.
[9]"Phosphoproteome of resting human platelets."
Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A.
J. Proteome Res. 7:526-534(2008) [PubMed: 18088087] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-191 AND THR-193, MASS SPECTROMETRY.
Tissue: Platelet.
[10]Carrascal M., Abian J.
Submitted (JAN-2008) to UniProtKB
Cited for: PHOSPHORYLATION AT SER-191, MASS SPECTROMETRY.
+Additional computationally mapped references.
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Web resourcesHide

GeneReviews
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Cross-referencesHide

Sequence databases

EMBL
GenBank
DDBJ		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.
IPIIPI00464990.
IPI00889679.
PIRNBHUIB. A54137.
I55604.
RefSeqNP_000398.1.
UniGeneHs.283743

3D structure databases

SMRP13224. Positions 26-90.
ModBaseSearch...

Protein-protein interaction databases

MINTMINT-1530456.

PTM databases

PhosphoSiteP13224.

2-D gel databases

OGPP13224.

Proteomic databases

PRIDEP13224.

Genome annotation databases

EnsemblENST00000366425; ENSP00000383382; ENSG00000203618; Homo sapiens. [Genome view]
GeneID2812.
KEGGhsa:2812.
UCSCuc002zpy.1. human.

Organism-specific databases

CTD2812.
GeneCardsGC22P018085.
HGNCHGNC:4440. GP1BB.
MIM138720. gene.
231200. phenotype.
Orphanet274. Bernard-Soulier syndrome.
PharmGKBPA179.
GenAtlasSearch...

Phylogenomic databases

HOGENOMHBG447038.
HOVERGENHBG051791.
InParanoidP13224.
OMAPCSCAGT.
OrthoDBEOG96HJWK.

Enzyme and pathway databases

ReactomeREACT_604. Hemostasis.

Gene expression databases

GenevestigatorP13224.

Family and domain databases

InterProIPR000483. Cys-rich_flank_reg_C.
IPR000372. LRR-contain_N.
[Graphical view]
PfamPF01463. LRRCT. 1 hit.
PF01462. LRRNT. 1 hit.
[Graphical view]
SMARTSM00082. LRRCT. 1 hit.
SM00013. LRRNT. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio11079.
SOURCESearch...
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Entry informationHide

Entry nameGP1BB_HUMAN
AccessionPrimary (citable) accession number: P13224
Secondary accession number(s): Q14422, Q8NG40
Entry history
Integrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: January 1, 1990
Last modified: June 15, 2010
This is version 102 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
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.
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Relevant documentsHide

Human cell differentiation molecules

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

Human chromosome 22

Human chromosome 22: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents