Version: 8.0.0Date: Tue Jan 28 2025
Gene
GP1BA
- Species
- Homo sapiens
- Symbol
- GP1BA
- Name
- glycoprotein Ib platelet subunit alpha
- Synonyms
- antigen CD42b-alpha
- BDPLT1
- Biotype
- protein coding gene
- Automated Description
- Predicted to enable thrombin-activated receptor activity. Involved in several processes, including blood coagulation, intrinsic pathway; fibrinolysis; and positive regulation of platelet activation. Acts upstream of or within blood coagulation and cell adhesion. Located in external side of plasma membrane. Part of glycoprotein Ib-IX-V complex. Implicated in Bernard-Soulier syndrome; Bernard-Soulier syndrome type A2; myocardial infarction; non-arteritic anterior ischemic optic neuropathy; and platelet-type bleeding disorder 3. Biomarker of chronic kidney disease; diabetic angiopathy; liver cirrhosis; nephrotic syndrome; and peritoneum cancer.
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR24369
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr17:4932277...4935023 + (2.75 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.