GP1BA (glycoprotein Ib platelet subunit alpha)

2007-02-01  

Identity

HGNC
GP1BA
LOCATION
17p13.2
LOCUSID
2811
ALIAS
BDPLT1,BDPLT3,BSS,CD42B,CD42b-alpha,DBPLT3,GP1B,GPIbA,GPIbalpha,VWDP

Other Information

Locus ID:

NCBI: 2811
MIM: 606672
HGNC: 4439
Ensembl: ENSG00000185245

Variants:

dbSNP: 2811
ClinVar: 2811
TCGA: ENSG00000185245
COSMIC: GP1BA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185245ENST00000329125P07359
ENSG00000185245ENST00000611961A0A0C4DGZ8

Expression (GTEx)

0
1
2
3
4
5
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
ECM-receptor interactionKEGGko04512
Hematopoietic cell lineageKEGGko04640
ECM-receptor interactionKEGGhsa04512
Hematopoietic cell lineageKEGGhsa04640
Platelet activationKEGGhsa04611
HemostasisREACTOMER-HSA-109582
Platelet Adhesion to exposed collagenREACTOMER-HSA-75892
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
GP1b-IX-V activation signallingREACTOMER-HSA-430116
Platelet Aggregation (Plug Formation)REACTOMER-HSA-76009
Formation of Fibrin Clot (Clotting Cascade)REACTOMER-HSA-140877
Intrinsic Pathway of Fibrin Clot FormationREACTOMER-HSA-140837

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA448497aspirinChemicalClinicalAnnotationassociatedPD17245331, 18417193

References

Pubmed IDYearTitleCitations
379224952024GPIbα-filamin A interaction regulates megakaryocyte localization and budding during platelet biogenesis.3
379224952024GPIbα-filamin A interaction regulates megakaryocyte localization and budding during platelet biogenesis.3
367405322023Comprehensive analysis of platelet glycoprotein Ibα ectodomain glycosylation.9
368099532023Integrated Proteomics and Metabolomics Analyses of Serum in Chinese Patients with Severe and Active Graves' Orbitopathy: A Cross-sectional Study.0
370441322023Low α-Thrombin/GPIbα Interaction Is a Potential Contributor to Platelet Hyper-reactivity in COVID-19 Patients.1
367405322023Comprehensive analysis of platelet glycoprotein Ibα ectodomain glycosylation.9
368099532023Integrated Proteomics and Metabolomics Analyses of Serum in Chinese Patients with Severe and Active Graves' Orbitopathy: A Cross-sectional Study.0
370441322023Low α-Thrombin/GPIbα Interaction Is a Potential Contributor to Platelet Hyper-reactivity in COVID-19 Patients.1
350550702022A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome.0
361730172022Biological, clinical features and modelling of heterozygous variants of glycoprotein Ib platelet subunit alpha (GP1BA) and glycoprotein Ib platelet subunit beta (GP1BB) genes responsible for constitutional thrombocytopenia.1
350550702022A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome.0
361730172022Biological, clinical features and modelling of heterozygous variants of glycoprotein Ib platelet subunit alpha (GP1BA) and glycoprotein Ib platelet subunit beta (GP1BB) genes responsible for constitutional thrombocytopenia.1
332202902021Increased circulating CD31+/CD42b-EMPs in Perthes disease and inhibit HUVECs angiogenesis via endothelial dysfunction.8
335483912021A fibrinolytic snake venom metalloproteinase, mutalysin-II, with antiplatelet activity and targeting capability toward glycoprotein GPIbα and glycoprotein GPVI.5
339063122021Predictive Value of Kozak Gene Polymorphism for Thrombosis in Patients with Philadelphia-Negative MPNs.1

Citation

Dessen P

GP1BA (glycoprotein Ib platelet subunit alpha)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46312