Description: Homo sapiens glycoprotein Ib (platelet), alpha polypeptide (GP1BA), mRNA. RefSeq Summary (NM_000173): Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease. The coding region of this gene is known to contain a polymophic variable number tandem repeat (VNTR) domain that is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy. [provided by RefSeq, Oct 2013]. CCDS Note: The coding region has been updated to include an additional segment in the coding region. This region corresponds to a tandem repeat encoding a 13 aa segment, which is present 3 times in the reference genome sequence. These tandem repeats are described in PMID:1577776. It should be noted that the majority of available transcript data represent an allele lacking one or more of these repeats, whereas this update represents the number of repeats found in the reference genome sequence. Transcript (Including UTRs) Position: hg19 chr17:4,835,592-4,838,325 Size: 2,734 Total Exon Count: 2 Strand: + Coding Region Position: hg19 chr17:4,835,900-4,837,858 Size: 1,959 Coding Exon Count: 1
ID:E7ES66_HUMAN DESCRIPTION: SubName: Full=Glycocalicin; CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.
age at first coronary bypass operation Donahue BS 2003, Tissue factor and platelet glycoprotein Ib-alpha alleles are associated with age at first coronary bypass operation., Anesthesiology. 2003 Dec;99(6):1287-94.
[PubMed 14639140]
Genetic variants in TF and GpIbalpha are associated with younger age at first CABG, indicating that the younger and older first-time CABG populations are different on the genetic level. How these genetic differences may account for age-associated differences in perioperative risk will be the subject of future investigations.
angina Yongbin, N. et al. 2004, Association of genetic polymorphisms in the fibrinogen and platelet glycoprotein genes with unstable angina in Chinese patients, Clinical cardiology. 2004 Aug;27(8):455-8.
[PubMed 15346842]
Chinese patients with UA had increased frequencies of GP Ib alpha C/B genotype and Bbeta fibrinogen 448A allele. These data suggest that some genetic factors may influence the development of UA.
atherosclerosis, coronary myocardial infarct Pellikka, M. et al. 2007, Platelet GPIbalpha, GPIV and vWF polymorphisms and fatal pre-hospital MI among middle-aged men, J Thromb Thrombolysis 2007.
[PubMed 17619827]
The combined ThrThr/TT haplotype of GPIbalpha as well as the AA genotype of GPIV seem to decrease the risk of fatal MI among men during early middle-age.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
SCOP Domains: 52047 - RNI-like 52058 - L domain-like 52075 - Outer arm dynein light chain 1
ModBase Predicted Comparative 3D Structure on E7ES66
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
