1. Gene
  2. GP9 - glycoprotein IX platelet Gene

GP9 - glycoprotein IX platelet Gene

中文名称:糖蛋白 IX 血小板

种属: Homo sapiens

同用名: GPIX; CD42a

基因 ID: 2815 | 基因类型: protein coding

关于 GP9

Cytogenetic location: 3q21.3 Genomic coordinates (GRCh38): 3:129,054,845-129,062,406 (from NCBI)

This gene has 1 transcript (splice variant), 160 orthologues, 1 paralogue and is associated with 2 phenotypes. Biased expression in bone marrow (RPKM 1.0), spleen (RPKM 0.7) and 4 other tissues.

功能概要

该基因编码一种在人类血小板表面发现的小膜糖蛋白。它与糖蛋白 Ib 形成一对一的非共价复合物,糖蛋白 Ib 是一种血小板表面膜糖蛋白复合物,可作为血管性血友病因子的受体。完整的受体复合物包括 alpha 和 beta 亚基与该基因编码的蛋白质和血小板糖蛋白 V 的非共价结合。该基因的缺陷是 Bernard-Soulier 综合征 (也称为巨血小板病) 的原因。这些患者的血小板异常大,有临床出血倾向。[RefSeq 提供,2008 年 10 月]

This gene encodes a small membrane glycoprotein found on the surface of human platelets. It forms a 1-to-1 noncovalent complex with glycoprotein Ib, a platelet surface membrane glycoprotein complex that functions as a receptor for von Willebrand factor. The complete receptor complex includes noncovalent association of the alpha and beta subunits with the protein encoded by this gene and platelet glycoprotein V. Defects in this gene are a cause of Bernard-Soulier syndrome, also known as giant platelet disease. These patients have unusually large platelets and have a clinical bleeding tendency. [provided by RefSeq, Oct 2008]

GP9 基因产物(1)

mRNA Protein Name
NM_000174.5 NP_000165.1 platelet glycoprotein IX 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 protein binding IPI
IPI: 通过物理相互作用推断
1730602 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

GP9 蛋白结构

LRRNT

LRRNT: Leucine rich repeat N-terminal domain (19 - 50)

LRR_8

LRR_8: Leucine rich repeat (54 - 85)

  • 0
  • 100
  • 177 a.a.
蛋白主名 其他名称

platelet glycoprotein IX

glycoprotein 9

GP9 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
GP9 P14770 GP5 Homo sapiens P40197
Anti Bait CoIP
1730602
种属内
GP9 P14770 HOXA1 Homo sapiens P49639
Y2H Array
25416956
种属内
GP9 P14770 HOXA1 Homo sapiens P49639
Y2H Prey Pooling
25416956
种属内
GP9 P14770 HOXA1 Homo sapiens P49639
Y2H Array
31515488
种属内
GP9 P14770 SPRY2 Homo sapiens O43597
Y2H Prey Pooling
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 GP9 蛋白

目录号 产品名 蛋白编号 纯度
HY-P77953 CD42a/GP9 Protein, Human (HEK293, Fc) P14770 (T17-G147) ≥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

Gray Platelet Syndrome

Platelet Alpha-Granule Deficiency

GPS

Bdplt4

Bleeding Disorder, Platelet-Type, 4

Grey Platelet Syndrome

Platelet-Type Bleeding Disorder 4

Marked Decrease Or Absence Of Alpha-Granules And Of Platelet-Specific Alpha-Granule Proteins

Deficient Alpha Granule Syndrome

Platelet Alpha Granule Deficiency

Platelet Granule Defect

Alpha Storage Pool Deficiency

Bleeding Disorder Platelet-Type 4

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

Myopathy, Tubular Aggregate, 1

Tubular Aggregate Myopathy

Tam

Myopathy With Tubular Aggregates

TAM1

Myopathy, Tubular Aggregate

Tubular Aggregate Myopathy 1

Thrombasthenia
Bardet-Biedl Syndrome 5

BBS5

Bardet-Biedl Syndrome, Type 5

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

Acrokeratoderma, Hereditary Papulotranslucent

Hereditary Papulotranslucent Acrokeratoderma

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

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

Thrombocytopenia Due To Platelet Alloimmunization

Immune Thrombocytopenia

Autoimmune Thrombocytopenia

Immune Thrombocytopenic Purpura

Itp

Auto-Immune Thrombocytopenia

Thrombocytopenia Due To Immune Destruction

Autoimmune Thrombocytopenic Purpura

Idiopathic Thrombocytopenic Purpura

Werlhof Disease

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

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

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus GP9 VGNC VGNC:29507
Rattus norvegicus GP9 RGD RGD:1561601
Mus musculus GP9 MGD MGI:1860137
Felis catus GP9 VGNC VGNC:67399
Canis familiaris GP9 VGNC VGNC:41357
Macaca mulatta GP9 VGNC VGNC:73115
Macaca fascicularis GP9 NCBI NCBI:102137361
Others GP9 NCBI