1. Gene
  2. C9 - complement C9 Gene

C9 - complement C9 Gene

中文名称:补体 C9

种属: Homo sapiens

同用名: C9D; ARMD15

基因 ID: 735 | 基因类型: protein coding

关于 C9

Cytogenetic location: 5p13.1 Genomic coordinates (GRCh38): 5:39,284,140-39,364,495 (from NCBI)

This gene has 7 transcripts (splice variants), 190 orthologues, 39 paralogues and is associated with 4 phenotypes. Restricted expression toward liver (RPKM 365.0).

功能概要

该基因编码补体系统的最后一个组成部分。它参与膜攻击复合体 (MAC) 的形成。 MAC 在细菌膜上组装形成一个孔,从而破坏细菌膜组织。该基因的突变会导致 C9 成分缺乏。[RefSeq 提供,2009 年 2 月]

This gene encodes the final component of the Complement System. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on Bacterial membranes to form a pore, permitting disruption of Bacterial membrane organization. Mutations in this gene cause component C9 deficiency. [provided by RefSeq, Feb 2009]

C9 基因产物(1)

mRNA Protein Name
NM_001737.5 NP_001728.1 complement component C9 preproprotein
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
28514442 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell killing IDA
IDA: 通过直接分析推断
26841934 GOA
involved in protein homooligomerization IDA
IDA: 通过直接分析推断
26841934 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in extracellular space IDA
IDA: 通过直接分析推断
22832194 GOA
part of membrane attack complex IDA
IDA: 通过直接分析推断
22832194 GOA
part of membrane attack complex IPI
IPI: 通过物理相互作用推断
30552328 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
26841934 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

C9 蛋白结构

TSP_1

TSP_1: Thrombospondin type 1 domain (46 - 94)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (100 - 134)

MACPF

MACPF: MAC/Perforin domain (272 - 501)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 559 a.a.
蛋白主名 其他名称

complement component C9

complement component 9

C9 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
C9 P02748 APOE Homo sapiens P02649
Anti Tag CoIP
33961781
种属内
C9 P02748 APOE Homo sapiens P02649
Anti Tag CoIP
28514442
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Complement Component 9 Deficiency

C9 Deficiency

C9D

C9 Deficiency With Dermatomyositis

Macular Degeneration, Age-Related, 15

Age Related Macular Degeneration 15

ARMD15

Macular Degeneration, Age-Related, 15, Susceptibility To

Macular Degeneration, Age-Related, Type 15

Immunodeficiency Due To A Late Component Of Complement Deficiency

Immunodeficiency Due To C5 To C9 Component Complement Deficiency

Terminal Complement Pathway Deficiency

Meningococcal Meningitis

Meningitis, Meningococcal

Meningitis Meningococcal

Epidemic Meningitis

Meningitis Due To Neisseria Meningitidis

Meningococcal Meninges Infection

Meningococcal Meningeal Infection

Meningococcal Cerebrospinal Inflammation

Chronic Meningococcal Arachnoiditis

Meningococcal Arachnoiditis

Diplococcal Spinal Meningitis

Diplococcal Meningitis

Meningococcal Cerebrospinal Fever

Meningococcal Cerebrospinal Infection

Meningococcal Spinal Meningitis

Immunoglobulin Heavy-And-Light Chain

Ah/Al Amyloidosis

Ig Heavy-And-Light-Chain Amyloidosis

Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

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
Mus musculus C9 MGD MGI:1098282
Felis catus C9 VGNC VGNC:60238
Macaca mulatta C9 VGNC VGNC:70482
Rattus norvegicus C9 RGD RGD:620319
Bos taurus C9 VGNC VGNC:26647
Canis familiaris C9 VGNC VGNC:38603
Macaca fascicularis C9 NCBI NCBI:102137382
Others C9 NCBI