C1QA Gene Summary [Human]
This gene encodes the A-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. 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. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
Details
| Type | Protein Coding |
| Official Symbol | C1QA |
| Official Name | complement C1q A chain [Source:HGNC Symbol;Acc:HGNC:1241] |
| Ensembl ID | ENSG00000173372 |
| Bio databases IDs | |
| Aliases | complement C1q A chain |
| Synonyms | Adic, C1q, C1QD1, complement C1q A chain, Complement c1q, alpha, Complement c1q, α, complement component 1, q subcomponent, alpha polypeptide, complement component 1, q subcomponent, α polypeptide, Hs.9641 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human C1QA often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Collagen triple helix repeat (20 copies)
- protein binding
- beta-amyloid binding
- globular head domain
- C1q domain
Pathways
Biological processes and signaling networks where the C1QA gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- complement component C1q deficiency
- autoimmune disease
- dermatomyositis
- lung adenocarcinoma
- lung adenocarcinoma formation
- rheumatoid arthritis
- hepatic insulin resistance
- organismal death
- diabetic nephropathy
- seizures
role in cell
- expression in
- apoptosis
- quantity
- activation
- organization
- rituximab sensitivity
- adhesion
- aggregation
- phagocytosis
- phagocytosis by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- glutaminergic synapse
- presynaptic regions
- postsynaptic region
- Plasma Membrane
- synapse
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human C1QA gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- complement activation
- microglial cell activation
- astrocyte activation
- synapse organization
- complement activation, classical pathway
- innate immune response
- cell-cell signaling
- neuron remodeling
Cellular Component
Where in the cell the gene product is active
- complement component C1 complex
- collagen
- synapse
- extracellular region
Molecular Function
What the gene product does at the molecular level
- protein binding
- beta-amyloid binding