C1QA complement component 1, q subcomponent, A chain [Homo sapiens (human)]
| Gene Symbol | C1QA |
| Entrez Gene ID | 712 |
| Full Name | complement component 1, q subcomponent, A chain |
| Synonyms | |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
1 1p36.12 |
| Summary | This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in order to yield the first component of the serum complement system. Deficiency of C1q has been associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains: six A-chains, six B-chains, and six C-chains. Each chain contains a collagen-like region located near the N terminus and a C-terminal globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome 1. This gene encodes the A-chain polypeptide of human complement subcomponent C1q. [provided by RefSeq]. |
| Disorder | MIM: 120550 C1q deficiency, type A (3) |
| mRNA | NM_015991, 87298824 |
| Protein | NP_057075, 7705753 |
| Product | complement C1q subcomponent subunit A precursor |
| RefSeq Status | REVIEWED |
| hsa05142 | Chagas disease (American trypanosomiasis) |
| hsa05150 | Staphylococcus aureus infection |
| hsa05322 | Systemic lupus erythematosus |
| hsa05020 | Prion diseases |
| hsa04610 | Complement and coagulation cascades |
WikiPathways
| WP545 | Complement Activation, Classical Pathway |
| WP558 | Complement and Coagulation Cascades |
Reactome
| REACT_8024 | Initial triggering of complement |
| REACT_6802 | Innate Immunity Signaling |
| REACT_8012 | Creation of C4 and C2 activators |
| REACT_7956 | Classical antibody-mediated complement activation |
| REACT_6932 | Complement cascade |
| REACT_6900 | Signaling in Immune system |
| Homo sapiens (human) | C1QA | NP_057075.1 |
| Pan troglodytes (chimpanzee) | C1QA | XP_001166821.1 |
| Canis lupus familiaris (dog) | C1QA | XP_535367.1 |
| Bos taurus (cattle) | C1QA | NP_001014945.1 |
| Mus musculus (house mouse) | C1qa | NP_031598.2 |
| Rattus norvegicus (Norway rat) | C1qa | NP_001008515.1 |
| Gallus gallus (chicken) | C1QA | XP_417654.2 |
| Danio rerio (zebrafish) | c1qa | NP_001018363.1 |
| ID | Name | Evidence |
| GO:0006956 | complement activation | TAS |
| GO:0006958 | complement activation, classical pathway | TAS |
| GO:0007267 | cell-cell signaling | TAS |
| GO:0045087 | innate immune response | TAS |
Component
| ID | Name | Evidence |
| GO:0005576 | extracellular region | EXP |
| GO:0005576 | extracellular region | TAS |
| GO:0005581 | collagen | IEA |
| GO:0005602 | complement component C1 complex | TAS |
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