1. Gene
  2. C6 - complement C6 Gene

C6 - complement C6 Gene

中文名称:补体 C6

种属: Homo sapiens

基因 ID: 729 | 基因类型: protein coding

关于 C6

Cytogenetic location: 5p13.1 Genomic coordinates (GRCh38): 5:41,142,116-41,261,469 (from NCBI)

This gene has 9 transcripts (splice variants), 206 orthologues, 39 paralogues and is associated with 2 phenotypes. Biased expression in liver (RPKM 126.4), heart (RPKM 11.8) and 2 other tissues.

功能概要

该基因编码补体级联的一个组成部分。编码的蛋白质是膜攻击复合物的一部分,可以掺入细胞膜并引起细胞裂解。该基因的突变与补体成分 6 缺乏有关。已经描述了编码相同蛋白质的转录变体。[RefSeq 提供,2012 年 11 月]

This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause Cell Lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described.[provided by RefSeq, Nov 2012]

C6 基因产物(2)

mRNA Protein Name
NM_000065.5 NP_000056.2 complement component C6 precursor
NM_001115131.4 NP_001108603.2 complement component C6 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
17474147 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in complement activation IDA
IDA: 通过直接分析推断
2808363 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
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
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

C6 蛋白结构

TSP_1

TSP_1: Thrombospondin type 1 domain (28 - 78)

TSP_1

TSP_1: Thrombospondin type 1 domain (86 - 133)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (140 - 173)

MACPF

MACPF: MAC/Perforin domain (293 - 514)

TSP_1

TSP_1: Thrombospondin type 1 domain (571 - 612)

Sushi

Sushi: Sushi repeat (SCR repeat) (644 - 695)

Sushi

Sushi: Sushi repeat (SCR repeat) (713 - 754)

Kazal_2

Kazal_2: Kazal-type serine protease inhibitor domain (793 - 837)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 934 a.a.
蛋白主名 其他名称

complement component C6

complement component 6

C6 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
C6 P13671 NCK1 Homo sapiens P16333 17474147
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 C6 蛋白

目录号 产品名 蛋白编号 纯度
HY-P74373 C6/Complement component C6 Protein, Human (HEK293, His) AAA59668 (C22-A934) ≥95%

关联疾病

疾病名称 别名
Complement Component 6 Deficiency

C6 Deficiency

C6D

C6 Deficiency Subtotal

Complement Component 6 Deficiency Subtotal

C6 Deficiency, Subtotal

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

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 C6 VGNC VGNC:52722
Felis catus C6 VGNC VGNC:60233
Rattus norvegicus C6 RGD RGD:2238
Canis familiaris C6 VGNC VGNC:38598
Macaca mulatta C6 VGNC VGNC:70477
Mus musculus C6 MGD MGI:88233
Macaca fascicularis C6 NCBI NCBI:102116032
Others C6 NCBI