1. Gene
  2. C8A - complement C8 alpha chain Gene

C8A - complement C8 alpha chain Gene

中文名称:补充 C8 α 链

种属: Homo sapiens

基因 ID: 731 | 基因类型: protein coding

关于 C8A

Cytogenetic location: 1p32.2 Genomic coordinates (GRCh38): 1:56,854,797-56,918,223 (from NCBI)

This gene has 15 transcripts (splice variants), 188 orthologues, 39 paralogues and is associated with 2 phenotypes. Restricted expression toward liver (RPKM 74.5).

功能概要

C8 是补体系统的一个组成部分,包含三种多肽:α、β 和γ。该基因编码 C8 的 α 亚基。 C8 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补体 C8 α-γ 缺陷。[RefSeq 提供,2008 年 11 月]

C8 is a component of the Complement System and contains three polypeptides, alpha, beta and gamma. This gene encodes the alpha subunit of C8. C8 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 complement C8 alpha-gamma deficiency. [provided by RefSeq, Nov 2008]

C8A 基因产物(1)

mRNA Protein Name
NM_000562.3 NP_000553.1 complement component C8 alpha chain 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
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within complement activation IDA
IDA: 通过直接分析推断
12413696 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
12413696 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

C8A 蛋白结构

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (95 - 130)

MACPF

MACPF: MAC/Perforin domain (268 - 490)

TSP_1

TSP_1: Thrombospondin type 1 domain (541 - 584)

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

complement component C8 alpha chain

complement component 8 alpha subunit

C8A 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
C8A P07357 GPR152 Homo sapiens Q8TDT2 32296183
种属内
C8A P07357 GPR152 Homo sapiens Q8TDT2 32296183
种属内
C8A P07357 GPR152 Homo sapiens Q8TDT2 32296183
种属内
C8A P07357 GOLT1A Homo sapiens Q6ZVE7 32296183
种属内
C8A P07357 GOLT1A Homo sapiens Q6ZVE7 32296183
种属内
C8A P07357 GOLT1A Homo sapiens Q6ZVE7 32296183
种属内
C8A P07357 SLC10A1 Homo sapiens Q14973 32296183
种属内
C8A P07357 SLC10A1 Homo sapiens Q14973 32296183
种属内
C8A P07357 SLC10A1 Homo sapiens Q14973 32296183
种属内
C8A P07357 SLC7A1 Homo sapiens P30825 32296183
种属内
C8A P07357 SLC7A1 Homo sapiens P30825 32296183
种属内
C8A P07357 SLC7A1 Homo sapiens P30825 32296183
种属内
C8A P07357 MMGT1 Homo sapiens Q8N4V1 32296183
种属内
C8A P07357 MMGT1 Homo sapiens Q8N4V1 32296183
种属内
C8A P07357 MMGT1 Homo sapiens Q8N4V1 32296183
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 8 Deficiency, Type I

C8 Alpha-Gamma Deficiency

Type I Complement Component 8 Deficiency

C8D1

C8 Deficiency Type I

Complement Component 8 Deficiency Type I

C8 Deficiency, Type I

C8ag Deficiency

Complement Component 8 Deficiency Type 1

C81 Deficiency

Complement Component 8 Deficiency, 1

Complement Component 8 Deficiency, Type 1

Immunodeficiency Due To A Late Component Of Complement Deficiency

Immunodeficiency Due To C5 To C9 Component Complement Deficiency

Terminal Complement Pathway Deficiency

Complement Component 8 Deficiency

C8 Deficiency

Bartter Syndrome, Type 4a, Neonatal, With Sensorineural Deafness

Bsnd

Sensorineural Deafness With Mild Renal Dysfunction

Bartter Disease Type 4a

BARTS4A

Bartter Syndrome, Type 4a

Bartter Syndrome Type 4

Bartter Syndrome, Neonatal, With Sensorineural Deafness

Bartter Syndrome With Sensorineural Deafness

Bartter Syndrome Type 4a

Neonatal Bartter Syndrome With Sensorineural Deafness

Bartter Syndrome Type Iv

Bartter Syndrome With Sensorineural Hearing Loss

Bartter Syndrome 4a, Neonatal, With Sensorineural Deafness

Hyperprostanglandin E Syndrome 4

Hypokalemic Alkalosis With Hypercalciuria Antenatal 4

Infantile Bartter Syndrome With Sensorineural Deafness

Hemolytic Uremic Syndrome, Atypical 1

Atypical Hemolytic-Uremic Syndrome

Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1

Atypical Hemolytic Uremic Syndrome

Hemolytic Uremic Syndrome, Atypical, Susceptibility To

Ahus

AHUS1

Hemolytic-Uremic Syndrome

Ahus 1

Ahus, Susceptibility To, 1

Hemolytic Uremic Syndrome, Atypical

Non-Shiga-Like Toxin-Associated Hus

Non-Stx-Hus

Nonenteropathic Hus

Atypical Hus

Shiga Toxin-Associated Hemolytic Uremic Syndrome

D+ Hus

Ehec-Hus

Hemolytic Uremic Syndrome Associated With Shiga Toxin-Producing Escherichia Coli

Hemolytic Uremic Syndrome With Diarrhea

Stec-Hus

Shiga-Like Toxin-Associated Hus

Stx-Hus

Typical Hus

Typical Hemolytic Uremic Syndrome

Atypical Hemolytic Uremic Syndrome With Anti-Factor H Antibodies

Atypical Hus With Anti-Factor H Antibodies

Ahus With Anti-Factor H Antibodies

Ahus With Neutralizing Autoantibodies Against Factor H

Hemolytic Uremic Syndrome Atypical 1

Atypical Hemolytic Uremic Syndrome With H Factor Anomaly

D Hus

Hemolytic-Uremic Syndrome Without Diarrhea

Hemolytic-Uremic Syndrome, Atypical, Type 1

Hemolytic Uremic Syndrome, Typical

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 C8A VGNC VGNC:26644
Macaca mulatta C8A VGNC VGNC:70479
Mus musculus C8A MGD MGI:2668347
Felis catus C8A VGNC VGNC:60235
Canis familiaris C8A VGNC VGNC:38600
Rattus norvegicus C8A RGD RGD:1308355
Macaca fascicularis C8A NCBI NCBI:102133722
Others C8A NCBI