GP1BB - glycoprotein Ib platelet subunit beta Gene

Also Known as BS; CD42C; GPIBB; BDPLT1; GPIbbeta

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2812

About GP1BB

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:19,723,539-19,724,771 (from NCBI)

This gene has 1 transcript (splice variant), 165 orthologues, 1 paralogue and is associated with 5 phenotypes. Biased expression in brain (RPKM 9.9), skin (RPKM 3.4) and 10 other tissues.

Summary

Platelet glycoprotein Ib (GPIb) is a heterodimeric transmembrane protein consisting of a disulfide-linked 140 kD alpha chain and 22 kD beta chain. It is part of the GPIb-V-IX system that constitutes the receptor for von Willebrand factor (VWF), and mediates platelet adhesion in the arterial circulation. GPIb alpha chain provides the VWF binding site, and GPIb beta contributes to surface expression of the receptor and participates in transmembrane signaling through phosphorylation of its intracellular domain. Mutations in the GPIb beta subunit have been associated with Bernard-Soulier syndrome, velocardiofacial syndrome and giant platelet disorder. The 206 amino acid precursor of GPIb beta is synthesized from a 1.0 kb mRNA expressed in plateletes and megakaryocytes. A 411 amino acid protein arising from a longer, unspliced transcript in endothelial cells has been described; however, the authenticity of this product has been questioned. Yet another less abundant GPIb beta mRNA species of 3.5 kb, expressed in nonhematopoietic tissues such as endothelium, brain and heart, was shown to result from inefficient usage of a non-consensus polyA signal in the neighboring upstream gene (SEPT5, septin 5). In the absence of polyadenylation from its own imperfect site, the SEPT5 gene produces read-through transcripts that use the consensus polyA signal of this gene. [provided by RefSeq, Dec 2010]

GP1BB Products (1)

mRNA	Protein	Name
NM_000407.5	NP_000398.1	platelet glycoprotein Ib beta chain precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	18674540	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	4044584	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in blood coagulation, intrinsic pathway	IPI IPI: Inferred from physical interaction	10501658	GOA
involved in positive regulation of platelet activation	IDA IDA: Inferred from direct assay	1939645	GOA
involved in release of sequestered calcium ion into cytosol	IDA IDA: Inferred from direct assay	1939645	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
part of glycoprotein Ib-IX-V complex	IPI IPI: Inferred from physical interaction	1730602	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GP1BB Protein Structure

LRRNT

LRRCT

0
100
206 a.a.

Protein Preferred Names	Protein Names
platelet glycoprotein Ib beta chain	GP-Ib beta

GP1BB Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	GP1BB	P13224	ARMT1	Homo sapiens	Q9H993	Anti Tag CoIP	33961781
Intra	GP1BB	P13224	RHOA	Homo sapiens	P61586	Anti Tag CoIP	33961781
Intra	GP1BB	P13224	GP1BB	Homo sapiens	P13224	Comigration in SDS	18674540
Intra	GP1BB	P13224	PLS1	Homo sapiens	Q14651	Anti Tag CoIP	33961781
Intra	GP1BB	P13224	MICAL1	Homo sapiens	Q8TDZ2	Anti Tag CoIP	33961781
Intra	GP1BB	P13224	GP1BB	Homo sapiens	P13224	ToxCat	18674540

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant GP1BB Proteins

Art. -Nr.	Produktname	Accession	Reinheit
HY-P76805	CD42c/GP1BB Protein, Human (HEK293, His)	P13224-1/NP_000398.1 (P27-C147)	≥ 95%, as determined by reducing SDS-PAGE.

GP1BB Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P810881	CD42c Antibody	WB, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Bernard-Soulier Syndrome	Giant Platelet Syndrome BSS Von Willebrand Factor Receptor Deficiency Bdplt1 Platelet Glycoprotein Ib Deficiency Bernard-Soulier Syndrome, Type A1 Bernard-Soulier Syndrome, Type B Bernard Soulier Syndrome Deficiency Of Platelet Glycoprotein 1b Hemorrhagiparous Thrombocytic Dystrophy Bernard-Soulier Syndrome Type C Bleeding Disorder, Platelet-Type, 1 Glycoprotein Ib, Platelet, Deficiency Of Giant Platelet Disorder, Isolated Giant Platelet Disease Macrothrombocytopenia, Familial Bernard-Soulier Type Bernard-Soulier Syndrome, Type C Bernard - Soulier Thrombopathy Hemorrhagic Dystrophic Thrombocytopenia Thrombopathy, Bernard-Soulier Platelet Glycoprotein 1b, Deficiency Of Hemorrhagioparous Thrombocytic Dystrophy Bernard-Soulier Syndrome Type A1 Bernard-Soulier Syndrome Type B Bleeding Disorder Platelet-Type 1 Gpd Macrothrombocytopenia, Familial, Bernard-Soulier Type
Thrombocytopenia	Low Platelet Count Low Platelets Decreased Platelets Platelet Dysfunction Nos
Autosomal Dominant Macrothrombocytopenia
Fetal And Neonatal Alloimmune Thrombocytopenia	Nait Neonatal Alloimmune Thrombocytopenia Fnait
Chromosome 22q11.2 Deletion Syndrome, Distal	22q11.2 Deletion Syndrome Autosomal Dominant Opitz G/Bbb Syndrome Catch22 Cayler Cardiofacial Syndrome Conotruncal Anomaly Face Syndrome Digeorge Syndrome Sedlackova Syndrome Shprintzen Syndrome Velocardiofacial Syndrome 22q11.2 Distal Deletion Syndrome Distal 22q11.2 Microdeletion Syndrome 22q11.2ds Vcfs Velo-Cardio-Facial Syndrome Distal Chromosome 22q11.2 Deletion Syndrome Chromosome 22q11.2 Deletion Syndrome Distal Chromosome 22q11.2 Deletion Syndrome Deletion 22q11.2 Syndrome 22q11ds Catch 22 Digeorge Sequence Microdeletion 22q11.2 Monosomy 22q11 Takao Syndrome Distal Del(22)(Q11.2) Distal Monosomy 22q11.2 Catch 22 Syndrome Chromosome Deletion Syndrome 22q11.2, Distal
Velocardiofacial Syndrome	Shprintzen Syndrome VCFS Chromosome 22q11.2 Deletion Syndrome Vcf Syndrome Shprintzen Vcf Syndrome Vcf-Velocardiofacial Syndrome Velo-Cardio-Facial Syndrome Digeorge Syndrome 22q11 Deletion Syndrome Conotruncal Anomaly Face Syndrome
Blood Platelet Disease	Platelet Disorder Blood Platelet Disorders Thrombocytopathy Platelet Dysfunction Platelet Disorders Qualitative Platelet Deficiency
Pseudo-Von Willebrand Disease	Bdplt3 Von Willebrand Disease, Platelet-Type VWDP Platelet-Type Bleeding Disorder 3 Platelet Type-Von Willebrand Disease Pt-Vwd Von Willebrand Disease Platelet-Type Von Willebrand Disease, Platelet Type Pseudo Von Willebrand Disease Bleeding Disorder, Platelet-Type, 3 Pseudo-Von Willebrand Disease Type 2b Bleeding Disorder Platelet-Type 3 Pseudo-Vwd
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Cednik Syndrome CEDNIK Cerebral Dysgenesis, Neuropathy, Ichthyosis And Keratoderma Syndrome Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndro Cerebral Dysgenesis-Neuropathy-Ichthyosis-Palmoplantar Keratoderma Syndrome Cerebral Dysgenesis-Neuropathy-Ichthyosis-Keratoderma Syndrome Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Neurocutaneous Syndromes
Van Den Ende-Gupta Syndrome	VDEGS Blepharophimosis, Arachnodactyly, And Congenital Contractures Marden-Walker-Like Syndrome Marden-Walker-Like Syndrome Without Psychomotor Retardation Marden Walker Like Syndrome Marden-Walker-Like Syndrome Without Psychmotor Retardation Van Den Ende Gupta Syndrome Marden Walker Like Syndrome Without Psychomotor Retardation Blepharophimosis Arachnodactyly And Congenital Contractures
Acrokeratoderma, Hereditary Papulotranslucent	Hereditary Papulotranslucent Acrokeratoderma
Hemophilia B	Christmas Disease Factor Ix Deficiency F9 Deficiency HEMB Plasma Thromboplastin Component Deficiency Congenital Factor Ix Deficiency Mild Hemophilia B Severe Hemophilia B Congenital Factor Ix Disorder Deficiency, Functional Factor Ix Hem B Mild Congenital F9 Deficiency Mild Congenital Factor Ix Deficiency Moderate Hemophilia B Moderate Congenital F9 Deficiency Moderate Congenital Factor Ix Deficiency Severe Congenital F9 Deficiency Severe Congenital Factor Ix Deficiency Bleeding Disorder In Hemophilia B Carriers Congenital F9 Deficiency Recessive X-Linked Hemophilia B
Bleeding Disorder, Platelet-Type, 8	Bleeding Disorder Due To P2ry12 Defect Platelet-Type Bleeding Disorder 8 BDPLT8 Adp Platelet Receptor P2y12 Defect P2y12 Defect Bleeding Disorder Due To Adp Platelet Receptor P2y12 Defect Bleeding Disorder Due To P2y12 Defect Bleeding Disorder Due To P2rx1 Defect, Somatic Bleeding Disorder, Platelet-Type 8 Adp Platelet Receptor P2y12 Deficiency P2ry12 Deficiency P2y12 Deficiency Bleeding Disorder, Platelet Type 8
Acquired Thrombocytopenia	Secondary Thrombocytopenia
Myh-9 Related Disease	Myh9-Related Disease Myh9-Rd Myh9-Related Disorder Myh9-Related Syndrome Myh9-Related Syndromic Thrombocytopenia Sebastian Syndrome
Von Willebrand'S Disease	Von Willebrand Disease Von Willebrand Disorder Vascular Pseudohemophilia Hereditary Von Willebrand Disease Vwd Vascular Hemophilia Von Willebrand'S-Jurgens' Disease Von Willebrand-Jrgens Disease Von Willebrand Factor Deficiency Von Willebrand Factor, Deficiency Angiohemophilia Von Willebrand'S Factor Deficiency Von Willebrand Diseases Factor Viii Deficiency With Vascular Defect Vascular Haemophilia Willebrand Jurgen Thrombopathy Pseudohaemophilia Minot-Von Willebrand-Jurgen Disease Angiohaemophilia Angiohaemophilia A Angiohaemophilia B
T-Cell Immunodeficiency With Thymic Aplasia	Nezelof Syndrome T-Lymphocyte Deficiency TIDTA Immune Defect Due To Absence Of Thymus Thymic Aplasia Nezelof'S Syndrome Thymic Dysplasia With Normal Immunoglobulins Thymic Aplasia Syndrome T-Lymphocyte Immunodeficiency
Glanzmann Thrombasthenia 1	Glanzmann Thrombasthenia Thrombasthenia Of Glanzmann And Naegeli Glanzmann'S Thrombasthenia Bdplt2 Platelet Glycoprotein Iib-Iiia Deficiency Deficiency Of Platelet Fibrinogen Receptor GT1 Gt Platelet Fibrinogen Receptor Deficiency Glycoprotein Complex Iib-Iiia Deficiency Deficiency Of Glycoprotein Complex Iib-Iiia Glycoprotein Iib/Iiia Defect Glanzmann Thrombasthenia, Type A Thrombasthenia Bleeding Disorder, Platelet-Type, 2 Gp Iib-Iiia Complex Deficiency Deficiency Of Gp Iib-Iiia Complex Platelet-Type Bleeding Disorder 2 Thrombocytasthenia Deficiency Of Gp 2b 3a Complex Diacyclothrombopathia 2b 3a Glanzmann Thrombasthenia Type A Platelet Fibrinogen Receptor, Deficiency Of Platelet Glycoprotein 2b 3a Deficiency Glanzmann Disease Glanzmann-Naegeli Disorder Hereditary Hemorrhagic Thrombasthenia Hereditary Thrombasthenia Bleeding Disorder Platelet-Type 2
Jacobsen Syndrome	Chromosome 11q Deletion Syndrome Partial 11q Monosomy Syndrome Jacobsen Distal 11q Deletion Syndrome JBS 11q Partial Monosomy Syndrome Chromosome 11q Deletion 11q Deletion 11q Monosomy Deletion 11q Monosomy 11q Partial Monosomy 11q 11q Deletion Disorder 11q Deletion Syndrome 11q Terminal Deletion Disorder 11q- Deletion Syndrome 11q23 Deletion Disorder Jacobsen Thrombocytopenia 11q Terminal Deletion Syndrome Del(11)(Q23.3) Del(11)(Qter) Distal Deletion 11q Distal Monosomy 11q Monosomy 11qter Telomeric Deletion 11q Paris-Trousseau Thrombocytopenia
Blood Coagulation Disease	Blood Coagulation Disorders Coagulation Protein Disease Inherited Blood Coagulation Disease Postpartum Coagulation Defect Postpartum Coagulation Defect With Delivery Coagulation Protein Disorders Puerperal Coagulopathy
Stormorken Syndrome	Thrombocytopathy, Asplenia, And Miosis Stormorken-Sjaastad-Langslet Syndrome STRMK York Platelet Syndrome Yps Thrombocytopathy, Asplenia And Miosis Thrombocytopathy Asplenia Miosis Thrombocytopathy-Asplenia-Miosis Syndrome Miosis Disorder
Thrombocytopenia-Absent Radius Syndrome	Tar Syndrome Radial Aplasia-Thrombocytopenia Syndrome Absent Radii And Thrombocytopenia TAR Chromosome 1q21.1 Deletion Syndrome, 200-Kb Thrombocytopenia Absent Radius Syndrome Thrombocytopenia Absent Radii Chromosome 1q21.1 Deletion Syndrome Thrombocytopenia With Absent Radii Syndrome Radial Aplasia-Amegakaryocytic Thrombocytopenia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS05608	GP1BB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18280	Gp1bb Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24758	Gp1bb Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GP1BB	RGD	RGD:621050
Canis familiaris	GP1BB	VGNC	VGNC:41355
Mus musculus	GP1BB	MGD	MGI:107852
Others	GP1BB	NCBI