1. Gene
  2. C1QC - complement C1q C chain Gene

C1QC - complement C1q C chain Gene

中文名称:补充 C1q C 链

种属: Homo sapiens

同用名: C1QG; C1Q-C

基因 ID: 714 | 基因类型: protein coding

关于 C1QC

Cytogenetic location: 1p36.12 Genomic coordinates (GRCh38): 1:22,643,633-22,648,108 (from NCBI)

This gene has 8 transcripts (splice variants), 168 orthologues, 23 paralogues and is associated with 2 phenotypes. Broad expression in spleen (RPKM 519.1), lymph node (RPKM 141.4) and 14 other tissues.

功能概要

该基因编码血清补体亚组分 C1q 的 C 链多肽,它与 C1r 和 C1s 结合产生血清补体系统的第一个组分。 C1q 由 18 条多肽链组成,包括 6 条 A 链、6 条 B 链和 6 条 C 链。每条链包含一个 N 端胶原样区域和一个 C 端 C1q 球状结构域。 C1q 缺乏与红斑狼疮和肾小球肾炎有关。[RefSeq 提供,2016 年 12 月]

This gene encodes the C-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum Complement System. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016]

C1QC 基因产物(4)

mRNA Protein Name
NM_001114101.3 NP_001107573.1 complement C1q subcomponent subunit C isoform 1 precursor
NM_001347619.2 NP_001334548.1 complement C1q subcomponent subunit C isoform 1 precursor
NM_001347620.2 NP_001334549.1 complement C1q subcomponent subunit C isoform 2
NM_172369.5 NP_758957.2 complement C1q subcomponent subunit C isoform 1 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
28018340 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in complement activation, classical pathway IDA
IDA: 通过直接分析推断
29449492 GOA
involved in negative regulation of granulocyte differentiation IDA
IDA: 通过直接分析推断
10961870 GOA
involved in negative regulation of macrophage differentiation IDA
IDA: 通过直接分析推断
10961870 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of complement component C1q complex IPI
IPI: 通过物理相互作用推断
29449492 GOA
located in extracellular region IDA
IDA: 通过直接分析推断
18250442 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

C1QC 蛋白结构

Collagen

Collagen: Collagen triple helix repeat (20 copies) (31 - 67)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (66 - 113)

C1q

C1q: C1q domain (121 - 242)

  • 0
  • 100
  • 200
  • 245 a.a.
蛋白主名 其他名称

complement C1q subcomponent subunit C

complement component 1, q subcomponent, C chain

C1QC 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
C1QC P02747 Q07021-PRO_0000018590 Homo sapiens Q07021-PRO_0000018590 28018340
种属内
C1QC P02747 ZNF534 Homo sapiens Q76KX8 32296183
种属内
C1QC P02747 UBQLN2 Homo sapiens Q9UHD9 32296183
种属内
C1QC P02747 UBQLN2 Homo sapiens Q9UHD9 32296183
种属内
C1QC P02747 UBQLN2 Homo sapiens Q9UHD9 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
C1q Deficiency

C1QD

Complement Component C1q Deficiency

Immunodeficiency Due To A Classical Component Pathway Complement Deficiency

Immunodeficiency Due To C1, C4, Or C2 Component Complement Deficiency

Immunodeficiency Due To An Early Component Of Complement Deficiency

Glomerulonephritis

Bright'S Disease

Lupus Erythematosus

Lupus

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus, Systemic

Subacute Cutaneous Lupus

Le - [Lupus Erythematosus]

Systemic Lupus Erythematosus

Lupus Nephritis

SLE

Disseminated Lupus Erythematosus

Systemic Lupus Erythematosus, Susceptibility To

Lupus Erythematosus, Systemic

Lupus Nephritis, Susceptibility To

Libman-Sacks Disease

Systemic Lupus Erythematosus Susceptibility To

Sle - Lupus Erythematosus, Systemic

Le Syndrome

Lupus

Lupus Erythematosus Systemic

Lupus Erythematosus, Systemic, Susceptibility To

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus

Systemic Lupus Erythematosus Nos

Sle - [Systemic Lupus Erythematosus]

Angioedema, Hereditary, 1

Hereditary Angioedema Type I

Hereditary Angioneurotic Edema

Hane

C1 Esterase Inhibitor Deficiency

Angioedema, Hereditary, 1 And 2

HAE1

Angioneurotic Edema, Hereditary

Angioedema, Hereditary, Type I

Hereditary Angioedema Type 2

Hae 2

Hae-Ii

Hereditary Angioneurotic Edema Type 2

Angioedema, Hereditary

HAE

Angioedema, Hereditary, Types I And Ii

Hereditary Angioedema, Type Ii

Angioedema, Hereditary, Type 1

Angioedemas, Hereditary

Hereditary C1 Esterase Inhibitor Deficiency - Dysfunctional Factor

Hereditary C1 Esterase Inhibitor Deficiency - Deficient Factor

Hereditary Angioedema Types I And Ii

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
Canis familiaris C1QC VGNC VGNC:52112
Bos taurus C1QC VGNC VGNC:26619
Macaca mulatta C1QC VGNC VGNC:99857
Rattus norvegicus C1QC RGD RGD:1306828
Mus musculus C1QC MGD MGI:88225
Felis catus C1QC VGNC VGNC:107491