GP1BA | ENSG00000185245 | NCBI 2811

Details for: GP1BA

Gene ID: 2811

Symbol: GP1BA

Ensembl ID: ENSG00000185245

Description: glycoprotein Ib platelet subunit alpha

Associated with

Defective binding of vwf variant to gpib:ix:v
(R-HSA-9846298)
Defective f9 activation
(R-HSA-9673221)
Defective factor ix causes hemophilia b
(R-HSA-9668250)
Defects of contact activation system (cas) and kallikrein/kinin system (kks)
(R-HSA-9651496)
Defects of platelet adhesion to exposed collagen
(R-HSA-9823587)
Disease
(R-HSA-1643685)
Diseases of hemostasis
(R-HSA-9671793)
Enhanced binding of gp1ba variant to vwf multimer:collagen
(R-HSA-9845620)
Formation of fibrin clot (clotting cascade)
(R-HSA-140877)
Gene expression (transcription)
(R-HSA-74160)
Generic transcription pathway
(R-HSA-212436)
Gp1b-ix-v activation signalling
(R-HSA-430116)
Hemostasis
(R-HSA-109582)
Intrinsic pathway of fibrin clot formation
(R-HSA-140837)
Platelet activation, signaling and aggregation
(R-HSA-76002)
Platelet adhesion to exposed collagen
(R-HSA-75892)
Platelet aggregation (plug formation)
(R-HSA-76009)
Rna polymerase ii transcription
(R-HSA-73857)
Runx1 regulates genes involved in megakaryocyte differentiation and platelet function
(R-HSA-8936459)
Transcriptional regulation by runx1
(R-HSA-8878171)
Blood coagulation
(GO:0007596)
Blood coagulation, intrinsic pathway
(GO:0007597)
Cell adhesion
(GO:0007155)
Cell morphogenesis
(GO:0000902)
Cell surface
(GO:0009986)
Cell surface receptor signaling pathway
(GO:0007166)
External side of plasma membrane
(GO:0009897)
Extracellular exosome
(GO:0070062)
Extracellular matrix
(GO:0031012)
Extracellular space
(GO:0005615)
Fibrinolysis
(GO:0042730)
Glycoprotein ib-ix-v complex
(GO:1990779)
Megakaryocyte development
(GO:0035855)
Membrane
(GO:0016020)
Plasma membrane
(GO:0005886)
Platelet activation
(GO:0030168)
Positive regulation of leukocyte tethering or rolling
(GO:1903238)
Positive regulation of platelet activation
(GO:0010572)
Protein binding
(GO:0005515)
Regulation of blood coagulation
(GO:0030193)
Release of sequestered calcium ion into cytosol
(GO:0051209)
Thrombin-activated receptor activity
(GO:0015057)
Thrombin-activated receptor signaling pathway
(GO:0070493)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: polychromatophilic erythroblast (CL0000550)
Fold Change: 13.5009
Cell Significance Index: -2.1000
Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
Fold Change: 7.9245
Cell Significance Index: -2.0100
Cell Name: peripheral blood mononuclear cell (CL2000001)
Fold Change: 4.6269
Cell Significance Index: -2.3800
Cell Name: orthochromatic erythroblast (CL0000552)
Fold Change: 1.7924
Cell Significance Index: -2.2100
Cell Name: stromal cell of bone marrow (CL0010001)
Fold Change: 0.5651
Cell Significance Index: -2.2300
Cell Name: megakaryocyte progenitor cell (CL0000553)
Fold Change: 0.5259
Cell Significance Index: 3.7800
Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: 0.3262
Cell Significance Index: 20.5600
Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.1782
Cell Significance Index: 10.7000
Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.1700
Cell Significance Index: 32.3600
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.1062
Cell Significance Index: 3.0600
Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
Fold Change: 0.0928
Cell Significance Index: 1.6000
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.0836
Cell Significance Index: 9.1000
Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 0.0772
Cell Significance Index: 1.6500
Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 0.0759
Cell Significance Index: 3.4400
Cell Name: retinal rod cell (CL0000604)
Fold Change: 0.0654
Cell Significance Index: 0.7800
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.0555
Cell Significance Index: 4.2600
Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 0.0333
Cell Significance Index: 2.3100
Cell Name: hepatoblast (CL0005026)
Fold Change: 0.0306
Cell Significance Index: 0.5200
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.0261
Cell Significance Index: 23.5400
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.0238
Cell Significance Index: 3.8800
Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: 0.0211
Cell Significance Index: 0.5900
Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
Fold Change: 0.0207
Cell Significance Index: 0.2900
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 0.0199
Cell Significance Index: 4.0000
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.0193
Cell Significance Index: 3.8300
Cell Name: CD8-positive, alpha-beta thymocyte (CL0000811)
Fold Change: 0.0184
Cell Significance Index: 0.1700
Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: 0.0151
Cell Significance Index: 6.7000
Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 0.0139
Cell Significance Index: 2.5100
Cell Name: colon goblet cell (CL0009039)
Fold Change: 0.0123
Cell Significance Index: 1.2200
Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 0.0123
Cell Significance Index: 0.6400
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.0085
Cell Significance Index: 0.3000
Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: 0.0084
Cell Significance Index: 0.3700
Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: 0.0072
Cell Significance Index: 0.1500
Cell Name: cell in vitro (CL0001034)
Fold Change: 0.0040
Cell Significance Index: 2.1900
Cell Name: lens epithelial cell (CL0002224)
Fold Change: 0.0039
Cell Significance Index: 6.0600
Cell Name: type I muscle cell (CL0002211)
Fold Change: 0.0033
Cell Significance Index: 0.0800
Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.0020
Cell Significance Index: 0.7200
Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: 0.0015
Cell Significance Index: 0.1800
Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.0015
Cell Significance Index: 2.8700
Cell Name: anterior lens cell (CL0002223)
Fold Change: 0.0015
Cell Significance Index: 2.6800
Cell Name: secondary lens fiber (CL0002225)
Fold Change: 0.0007
Cell Significance Index: 0.9300
Cell Name: GABAergic amacrine cell (CL4030027)
Fold Change: -0.0004
Cell Significance Index: 0.0000
Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: -0.0009
Cell Significance Index: -0.0200
Cell Name: odontoblast (CL0000060)
Fold Change: -0.0009
Cell Significance Index: -0.1200
Cell Name: basal cell of urothelium (CL1000486)
Fold Change: -0.0024
Cell Significance Index: -0.3000
Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: -0.0026
Cell Significance Index: -1.6300
Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0027
Cell Significance Index: -1.9900
Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0028
Cell Significance Index: -2.0800
Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.0029
Cell Significance Index: -0.4200
Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0030
Cell Significance Index: -2.2600
Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0036
Cell Significance Index: -2.0400
Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0038
Cell Significance Index: -1.7100
Cell Name: cerebellar granule cell (CL0001031)
Fold Change: -0.0038
Cell Significance Index: -0.0700
Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: -0.0040
Cell Significance Index: -0.1500
Cell Name: glycinergic neuron (CL1001509)
Fold Change: -0.0051
Cell Significance Index: -0.2700
Cell Name: stromal cell of ovary (CL0002132)
Fold Change: -0.0052
Cell Significance Index: -0.7200
Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: -0.0060
Cell Significance Index: -0.1500
Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.0065
Cell Significance Index: -1.8700
Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.0074
Cell Significance Index: -0.8500
Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -0.0080
Cell Significance Index: -0.4900
Cell Name: lens fiber cell (CL0011004)
Fold Change: -0.0092
Cell Significance Index: -0.2900
Cell Name: abnormal cell (CL0001061)
Fold Change: -0.0102
Cell Significance Index: -1.0400
Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.0106
Cell Significance Index: -2.2300
Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: -0.0111
Cell Significance Index: -1.9000
Cell Name: kidney epithelial cell (CL0002518)
Fold Change: -0.0115
Cell Significance Index: -0.3400
Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: -0.0121
Cell Significance Index: -0.3300
Cell Name: BEST4+ enteroycte (CL4030026)
Fold Change: -0.0126
Cell Significance Index: -0.1900
Cell Name: sebum secreting cell (CL0000317)
Fold Change: -0.0137
Cell Significance Index: -0.9700
Cell Name: lactocyte (CL0002325)
Fold Change: -0.0145
Cell Significance Index: -1.8700
Cell Name: early pro-B cell (CL0002046)
Fold Change: -0.0149
Cell Significance Index: -0.9600
Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: -0.0150
Cell Significance Index: -0.7000
Cell Name: keratocyte (CL0002363)
Fold Change: -0.0164
Cell Significance Index: -0.2600
Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: -0.0165
Cell Significance Index: -0.5300
Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
Fold Change: -0.0196
Cell Significance Index: -0.5800
Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: -0.0198
Cell Significance Index: -0.2700
Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: -0.0199
Cell Significance Index: -2.3500
Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.0203
Cell Significance Index: -2.1100
Cell Name: retinal pigment epithelial cell (CL0002586)
Fold Change: -0.0218
Cell Significance Index: -0.2400
Cell Name: forebrain neuroblast (CL1000042)
Fold Change: -0.0234
Cell Significance Index: -1.4400
Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.0235
Cell Significance Index: -1.7500
Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: -0.0245
Cell Significance Index: -1.1500
Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.0285
Cell Significance Index: -2.2600
Cell Name: hippocampal granule cell (CL0001033)
Fold Change: -0.0290
Cell Significance Index: -1.9500
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: -0.0292
Cell Significance Index: -0.7800
Cell Name: megakaryocyte (CL0000556)
Fold Change: -0.0296
Cell Significance Index: -0.4800
Cell Name: mesenchymal cell (CL0008019)
Fold Change: -0.0305
Cell Significance Index: -0.5100
Cell Name: retinal progenitor cell (CL0002672)
Fold Change: -0.0323
Cell Significance Index: -1.8100
Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: -0.0354
Cell Significance Index: -0.9100
Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: -0.0372
Cell Significance Index: -0.7900
Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -0.0380
Cell Significance Index: -1.2100
Cell Name: decidual cell (CL2000002)
Fold Change: -0.0399
Cell Significance Index: -0.6400
Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: -0.0401
Cell Significance Index: -1.4100
Cell Name: placental villous trophoblast (CL2000060)
Fold Change: -0.0404
Cell Significance Index: -1.0800
Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -0.0415
Cell Significance Index: -1.3600
Cell Name: proerythroblast (CL0000547)
Fold Change: -0.0426
Cell Significance Index: -0.6100
Cell Name: regular ventricular cardiac myocyte (CL0002131)
Fold Change: -0.0460
Cell Significance Index: -0.5900
Cell Name: early T lineage precursor (CL0002425)
Fold Change: -0.0461
Cell Significance Index: -0.6700
Cell Name: eukaryotic cell (CL0000255)
Fold Change: -0.0475
Cell Significance Index: -2.0700
Cell Name: stratified epithelial cell (CL0000079)
Fold Change: -0.0520
Cell Significance Index: -1.9100
Cell Name: type II muscle cell (CL0002212)
Fold Change: -0.0533
Cell Significance Index: -0.8600
Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: -0.0537
Cell Significance Index: -1.3400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

**Key Characteristics** * GP1BA is a transmembrane glycoprotein composed of three extracellular Ig-like domains and three intracellular transmembrane domains. * It is a subunit of the platelet glycoprotein Ib-IX-V complex, which is essential for platelet adhesion and aggregation. * GP1BA is highly expressed in platelets and megakaryocytes, where it plays a crucial role in platelet production and function. * Mutations in the GP1BA gene have been associated with bleeding disorders, such as hemophilia B, and thrombotic disorders, such as thrombosis. **Pathways and Functions** * **Blood Coagulation**: GP1BA is involved in the intrinsic pathway of blood coagulation, where it interacts with VWF to facilitate platelet adhesion and activation. * **Cell Adhesion**: GP1BA is essential for the binding of platelets to the damaged vascular wall, promoting platelet adhesion and aggregation. * **Cell Morphogenesis**: GP1BA is involved in the regulation of megakaryocyte development and platelet production. * **Cell Surface Receptor Signaling Pathway**: GP1BA interacts with VWF and other platelet receptors to regulate platelet activation and aggregation. * **Fibrinolysis**: GP1BA is involved in the regulation of fibrinolysis, where it interacts with plasminogen to inhibit fibrinolysis. **Clinical Significance** * **Hemophilia B**: Mutations in the GP1BA gene have been associated with hemophilia B, a bleeding disorder characterized by prolonged bleeding. * **Thrombosis**: GP1BA mutations have also been linked to thrombotic disorders, such as thrombosis, where platelets are overly active and prone to aggregation. * **Platelet Disorders**: GP1BA is essential for platelet function, and mutations in the GP1BA gene can lead to platelet dysfunction, including impaired platelet adhesion and aggregation. * **Megakaryocyte Disorders**: GP1BA is also involved in megakaryocyte development, and mutations in the GP1BA gene can lead to megakaryocyte disorders, such as thrombocytopenia. In conclusion, GP1BA is a critical component of the platelet glycoprotein Ib-IX-V complex, which plays a pivotal role in platelet adhesion, activation, and aggregation. Mutations in the GP1BA gene have been associated with bleeding disorders, thrombotic disorders, and platelet disorders, highlighting the importance of this gene in maintaining normal hemostasis and platelet function.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Platelet glycoprotein Ib alpha chain
L7UYB8_HUMAN

Genular Protein ID: 151557369

Symbol: GP1BA_HUMAN

Name: Platelet glycoprotein Ib alpha chain

UniProtKB Accession Codes:

P07359 E7ES66 Q14441 Q16469 Q8N1F3 Q8NG39 Q9HDC7 Q9UEK1 Q9UQS4

Database IDs:

Citations:

PubMed ID: 3303030

Title: Cloning of the alpha chain of human platelet glycoprotein Ib: a transmembrane protein with homology to leucine-rich alpha 2-glycoprotein.

PubMed ID: 3303030

DOI: 10.1073/pnas.84.16.5615

PubMed ID: 2845978

Title: Structure of the human blood platelet membrane glycoprotein Ib alpha gene.

PubMed ID: 2845978

DOI: 10.1016/s0006-291x(88)80853-2

PubMed ID: 12038791

Title: A novel polymorphism, 70Leu/Phe, disrupts a consensus Leu residue within the leucine-rich repeat sequence of platelet glycoprotein Ibalpha.

PubMed ID: 12038791

PubMed ID: 14521605

Title: Identification of a novel point mutation in platelet glycoprotein Ibalpha, Gly to Ser at residue 233, in a Japanese family with platelet-type von Willebrand disease.

PubMed ID: 14521605

DOI: 10.1046/j.1538-7836.2003.00369.x

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 3497398

Title: Amino acid sequence of the von Willebrand factor-binding domain of platelet membrane glycoprotein Ib.

PubMed ID: 3497398

DOI: 10.1073/pnas.84.16.5610

PubMed ID: 12665801

Title: Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.

PubMed ID: 12665801

DOI: 10.1038/nbt810

PubMed ID: 9088113

Title: StyI polymorphism at nucleotide 1610 in the human platelet glycoprotein Ib alpha gene.

PubMed ID: 9088113

DOI: 10.1007/bf01876333

PubMed ID: 2070794

Title: Identification of the disulphide bonds in human platelet glycocalicin.

PubMed ID: 2070794

DOI: 10.1111/j.1432-1033.1991.tb16135.x

PubMed ID: 9651345

Title: Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ibalpha.

PubMed ID: 9651345

DOI: 10.1074/jbc.273.28.17531

PubMed ID: 16263699

Title: Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach.

PubMed ID: 16263699

DOI: 10.1074/mcp.m500324-mcp200

PubMed ID: 17008541

Title: Glycoprotein Ibalpha forms disulfide bonds with 2 glycoprotein Ibbeta subunits in the resting platelet.

PubMed ID: 17008541

DOI: 10.1182/blood-2006-05-024091

PubMed ID: 17445093

Title: Controlled shedding of platelet glycoprotein (GP)VI and GPIb-IX-V by ADAM family metalloproteinases.

PubMed ID: 17445093

DOI: 10.1111/j.1538-7836.2007.02590.x

PubMed ID: 18088087

Title: Phosphoproteome of resting human platelets.

PubMed ID: 18088087

DOI: 10.1021/pr0704130

PubMed ID: 19828450

Title: Identification and characterization of multiple similar ligand-binding repeats in filamin: implication on filamin-mediated receptor clustering and cross-talk.

PubMed ID: 19828450

DOI: 10.1074/jbc.m109.060954

PubMed ID: 21552524

Title: GPVI and GPIbalpha mediate staphylococcal superantigen-like protein 5 (SSL5) induced platelet activation and direct toward glycans as potential inhibitors.

PubMed ID: 21552524

DOI: 10.1371/journal.pone.0019190

PubMed ID: 36740532

Title: Comprehensive analysis of platelet glycoprotein Ibalpha ectodomain glycosylation.

PubMed ID: 36740532

DOI: 10.1016/j.jtha.2023.01.009

PubMed ID: 12087105

Title: Crystal structure of the platelet glycoprotein Ibalpha N-terminal domain reveals an unmasking mechanism for receptor activation.

PubMed ID: 12087105

DOI: 10.1074/jbc.m205271200

PubMed ID: 12183630

Title: Structures of glycoprotein Ibalpha and its complex with von Willebrand factor A1 domain.

PubMed ID: 12183630

DOI: 10.1126/science.107355

PubMed ID: 11858495

Title: Molecular modeling of the seven tandem leucine-rich repeats within the ligand-binding region of platelet glycoprotein Ib alpha.

PubMed ID: 11858495

PubMed ID: 1586750

Title: Genetic and structural characterization of an amino acid dimorphism in glycoprotein Ib alpha involved in platelet transfusion refractoriness.

PubMed ID: 1586750

PubMed ID: 1730088

Title: Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease.

PubMed ID: 1730088

PubMed ID: 1577776

Title: Polymorphism of human glycoprotein Ib alpha results from a variable number of tandem repeats of a 13-amino acid sequence in the mucin-like macroglycopeptide region. Structure/function implications.

PubMed ID: 1577776

DOI: 10.1016/s0021-9258(19)50199-5

PubMed ID: 7690774

Title: Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome.

PubMed ID: 7690774

DOI: 10.1172/jci116692

PubMed ID: 7819107

Title: Cys209 Ser mutation in the platelet membrane glycoprotein Ib alpha gene is associated with Bernard-Soulier syndrome.

PubMed ID: 7819107

DOI: 10.1111/j.1365-2141.1994.tb05125.x

PubMed ID: 2052556

Title: Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease.

PubMed ID: 2052556

DOI: 10.1073/pnas.88.11.4761

PubMed ID: 8486780

Title: Expression of the phenotypic abnormality of platelet-type von Willebrand disease in a recombinant glycoprotein Ib alpha fragment.

PubMed ID: 8486780

DOI: 10.1172/jci116438

PubMed ID: 8384898

Title: Pseudo-von Willebrand disease: a mutation in the platelet glycoprotein Ib alpha gene associated with a hyperactive surface receptor.

PubMed ID: 8384898

PubMed ID: 7632942

Title: The largest variant of platelet glycoprotein Ib alpha has four tandem repeats of 13 amino acids in the macroglycopeptide region and a genetic linkage with methionine145.

PubMed ID: 7632942

PubMed ID: 7873390

Title: A three-base deletion removing a leucine residue in a leucine-rich repeat of platelet glycoprotein Ib alpha associated with a variant of Bernard-Soulier syndrome (Nancy I).

PubMed ID: 7873390

DOI: 10.1111/j.1365-2141.1995.tb03316.x

PubMed ID: 9639514

Title: Naturally occurring mutations in glycoprotein Ibalpha that result in defective ligand binding and synthesis of a truncated protein.

PubMed ID: 9639514

PubMed ID: 10391209

Title: Characterization of single-nucleotide polymorphisms in coding regions of human genes.

PubMed ID: 10391209

DOI: 10.1038/10290

PubMed ID: 10089893

Title: Molecular characterization of two mutations in platelet glycoprotein (GP) Ib alpha in two Finnish Bernard-Soulier syndrome families.

PubMed ID: 10089893

DOI: 10.1111/j.1600-0609.1999.tb01739.x

PubMed ID: 11222377

Title: Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome.

PubMed ID: 11222377

DOI: 10.1182/blood.v97.5.1330

PubMed ID: 14711733

Title: Nonarteritic anterior ischemic optic neuropathy is associated with a specific platelet polymorphism located on the glycoprotein Ibalpha gene.

PubMed ID: 14711733

DOI: 10.1016/j.ophtha.2003.05.006

Sequence Information:

Length: 652
Mass: 71540
Checksum: 053346683AEB927E
Sequence:

MPLLLLLLLL PSPLHPHPIC EVSKVASHLE VNCDKRNLTA LPPDLPKDTT ILHLSENLLY 
TFSLATLMPY TRLTQLNLDR CELTKLQVDG TLPVLGTLDL SHNQLQSLPL LGQTLPALTV 
LDVSFNRLTS LPLGALRGLG ELQELYLKGN ELKTLPPGLL TPTPKLEKLS LANNNLTELP 
AGLLNGLENL DTLLLQENSL YTIPKGFFGS HLLPFAFLHG NPWLCNCEIL YFRRWLQDNA 
ENVYVWKQGV DVKAMTSNVA SVQCDNSDKF PVYKYPGKGC PTLGDEGDTD LYDYYPEEDT 
EGDKVRATRT VVKFPTKAHT TPWGLFYSWS TASLDSQMPS SLHPTQESTK EQTTFPPRWT 
PNFTLHMESI TFSKTPKSTT EPTPSPTTSE PVPEPAPNMT TLEPTPSPTT PEPTSEPAPS 
PTTPEPTSEP APSPTTPEPT SEPAPSPTTP EPTPIPTIAT SPTILVSATS LITPKSTFLT 
TTKPVSLLES TKKTIPELDQ PPKLRGVLQG HLESSRNDPF LHPDFCCLLP LGFYVLGLFW 
LLFASVVLIL LLSWVGHVKP QALDSGQGAA LTTATQTTHL ELQRGRQVTV PRAWLLFLRG 
SLPTFRSSLF LWVRPNGRVG PLVAGRRPSA LSQGRGQDLL STVSIRYSGH SL

Genular Protein ID: 10424423

Symbol: L7UYB8_HUMAN

Name: N/A

UniProtKB Accession Codes:

L7UYB8

Database IDs:

Citations:

PubMed ID: 23300803

Title: Abnormal whole blood thrombi in humans with inherited platelet receptor defects.

PubMed ID: 23300803

DOI: 10.1371/journal.pone.0052878

Sequence Information:

Length: 333
Mass: 36973
Checksum: B30AE8A23B6A9C58
Sequence:

MPLLLLLLLL PSPLHPHPIC EVSKVASHLE VNCDKRNLTA LPPDLPKDTT ILHLSENLLY 
TFSLATLMPY TRLTQLNLDR CELTKLQVDG TLPVLGTLDL SHNQLQSLPL LGQTLPALTV 
LDVSFNRLTS LPLGALRGLG ELQELYLKGN ELKTLPPGLL TPTPKLEKLS LANNNLTELP 
AGLLNGLENL DTLLLQENSL YTIPKGFFGS HLLPFAFLHG NPWLCNCEIL YFRRWLQDNA 
ENVYVWKQGV DVKAMTSNVA SVQCDNSDKF PVYKYPGKGC PTLGDEGDTD LYDYYPEEDT 
EGDKVRATRT VVKFPTKPIQ PPGVYSTHGP LLL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: GP1BA

Associated with

Cells (max top 100)

Other Information

Cloning of the alpha chain of human platelet glycoprotein Ib: a transmembrane protein with homology to leucine-rich alpha 2-glycoprotein. PubMed ID: 3303030

Structure of the human blood platelet membrane glycoprotein Ib alpha gene. PubMed ID: 2845978

A novel polymorphism, 70Leu/Phe, disrupts a consensus Leu residue within the leucine-rich repeat sequence of platelet glycoprotein Ibalpha. PubMed ID: 12038791

Identification of a novel point mutation in platelet glycoprotein Ibalpha, Gly to Ser at residue 233, in a Japanese family with platelet-type von Willebrand disease. PubMed ID: 14521605

DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. PubMed ID: 16625196

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Amino acid sequence of the von Willebrand factor-binding domain of platelet membrane glycoprotein Ib. PubMed ID: 3497398

Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. PubMed ID: 12665801

StyI polymorphism at nucleotide 1610 in the human platelet glycoprotein Ib alpha gene. PubMed ID: 9088113

Identification of the disulphide bonds in human platelet glycocalicin. PubMed ID: 2070794

Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ibalpha. PubMed ID: 9651345

Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach. PubMed ID: 16263699

Glycoprotein Ibalpha forms disulfide bonds with 2 glycoprotein Ibbeta subunits in the resting platelet. PubMed ID: 17008541

Controlled shedding of platelet glycoprotein (GP)VI and GPIb-IX-V by ADAM family metalloproteinases. PubMed ID: 17445093

Phosphoproteome of resting human platelets. PubMed ID: 18088087

Identification and characterization of multiple similar ligand-binding repeats in filamin: implication on filamin-mediated receptor clustering and cross-talk. PubMed ID: 19828450

GPVI and GPIbalpha mediate staphylococcal superantigen-like protein 5 (SSL5) induced platelet activation and direct toward glycans as potential inhibitors. PubMed ID: 21552524

Comprehensive analysis of platelet glycoprotein Ibalpha ectodomain glycosylation. PubMed ID: 36740532

Crystal structure of the platelet glycoprotein Ibalpha N-terminal domain reveals an unmasking mechanism for receptor activation. PubMed ID: 12087105

Structures of glycoprotein Ibalpha and its complex with von Willebrand factor A1 domain. PubMed ID: 12183630

Molecular modeling of the seven tandem leucine-rich repeats within the ligand-binding region of platelet glycoprotein Ib alpha. PubMed ID: 11858495

Genetic and structural characterization of an amino acid dimorphism in glycoprotein Ib alpha involved in platelet transfusion refractoriness. PubMed ID: 1586750

Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease. PubMed ID: 1730088

Polymorphism of human glycoprotein Ib alpha results from a variable number of tandem repeats of a 13-amino acid sequence in the mucin-like macroglycopeptide region. Structure/function implications. PubMed ID: 1577776

Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome. PubMed ID: 7690774

Cys209 Ser mutation in the platelet membrane glycoprotein Ib alpha gene is associated with Bernard-Soulier syndrome. PubMed ID: 7819107

Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease. PubMed ID: 2052556

Expression of the phenotypic abnormality of platelet-type von Willebrand disease in a recombinant glycoprotein Ib alpha fragment. PubMed ID: 8486780

Pseudo-von Willebrand disease: a mutation in the platelet glycoprotein Ib alpha gene associated with a hyperactive surface receptor. PubMed ID: 8384898

The largest variant of platelet glycoprotein Ib alpha has four tandem repeats of 13 amino acids in the macroglycopeptide region and a genetic linkage with methionine145. PubMed ID: 7632942

A three-base deletion removing a leucine residue in a leucine-rich repeat of platelet glycoprotein Ib alpha associated with a variant of Bernard-Soulier syndrome (Nancy I). PubMed ID: 7873390

Naturally occurring mutations in glycoprotein Ibalpha that result in defective ligand binding and synthesis of a truncated protein. PubMed ID: 9639514

Characterization of single-nucleotide polymorphisms in coding regions of human genes. PubMed ID: 10391209

Molecular characterization of two mutations in platelet glycoprotein (GP) Ib alpha in two Finnish Bernard-Soulier syndrome families. PubMed ID: 10089893

Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. PubMed ID: 11222377

Nonarteritic anterior ischemic optic neuropathy is associated with a specific platelet polymorphism located on the glycoprotein Ibalpha gene. PubMed ID: 14711733

Abnormal whole blood thrombi in humans with inherited platelet receptor defects. PubMed ID: 23300803