GP1BB - glycoprotein Ib platelet subunit beta Gene

中文名称：糖蛋白 Ib 血小板亚基 β

种属: Homo sapiens

同用名: BS; CD42C; GPIBB; BDPLT1; GPIbbeta

基因 ID: 2812 | 基因类型: protein coding

关于 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.

功能概要

血小板糖蛋白 Ib (GPIb) 是一种异二聚体跨膜蛋白，由二硫键连接的 140 kD α 链和 22 kD β 链组成。它是构成血管性血友病因子 (VWF) 受体的 GPIb-V-IX 系统的一部分，并介导动脉循环中的血小板粘附。 GPIb α 链提供 VWF 结合位点，GPIb β 有助于受体的表面表达，并通过其细胞内结构域的磷酸化参与跨膜信号传导。 GPIb β 亚基的突变与 Bernard-Soulier 综合征、腭心面综合征和巨血小板疾病有关。 GPIb β 的 206 个氨基酸前体由在血小板和巨核细胞中表达的 1.0 kb mRNA 合成。已经描述了一种由内皮细胞中较长的未剪接转录物产生的 411 个氨基酸的蛋白质；然而，该产品的真实性一直受到质疑。另一种不太丰富的 3.5 kb 的 GPIb beta mRNA 种类在内皮、大脑和心脏等非造血组织中表达，表明其是由于相邻上游基因 (SEPT5、septin 5) 中非共识 polyA 信号的低效使用所致。在其自身不完美位点不存在聚腺苷酸化的情况下，SEPT5 基因会产生使用该基因的共有 polyA 信号的通读转录本。[RefSeq 提供，2010 年 12 月]

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 基因产物(1)

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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables identical protein binding	IPI IPI: 通过物理相互作用推断	18674540	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	4044584	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in blood coagulation, intrinsic pathway	IPI IPI: 通过物理相互作用推断	10501658	GOA
involved in positive regulation of platelet activation	IDA IDA: 通过直接分析推断	1939645	GOA
involved in release of sequestered calcium ion into cytosol	IDA IDA: 通过直接分析推断	1939645	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of glycoprotein Ib-IX-V complex	IPI IPI: 通过物理相互作用推断	1730602	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

GP1BB 蛋白结构

LRRNT

LRRCT

0
100
206 a.a.

蛋白主名

其他名称

platelet glycoprotein Ib beta chain

GP-Ib beta

GP1BB 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	GP1BB	P13224	ARMT1	Homo sapiens	Q9H993	Anti Tag CoIP	33961781
种属内	GP1BB	P13224	RHOA	Homo sapiens	P61586	Anti Tag CoIP	33961781
种属内	GP1BB	P13224	GP1BB	Homo sapiens	P13224	Comigration in SDS	18674540
种属内	GP1BB	P13224	PLS1	Homo sapiens	Q14651	Anti Tag CoIP	33961781
种属内	GP1BB	P13224	MICAL1	Homo sapiens	Q8TDZ2	Anti Tag CoIP	33961781
种属内	GP1BB	P13224	GP1BB	Homo sapiens	P13224	ToxCat	18674540

种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 GP1BB 蛋白

目录号	产品名	蛋白编号	纯度
HY-P76805	CD42c/GP1BB Protein, Human (HEK293, His)	P13224-1/NP_000398.1 (P27-C147)	≥95%

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS05608	GP1BB Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	GP1BB	RGD	RGD:621050
Canis familiaris	GP1BB	VGNC	VGNC:41355
Mus musculus	GP1BB	MGD	MGI:107852
Others	GP1BB	NCBI

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