C1QA

Complement C1q subcomponent subunit A is a protein that in humans is encoded by the C1QA gene.^[5]

PDBOrtholog search: PDBe RCSB

AliasesC1QA, complement C1q A chain

External IDsOMIM: 120550; MGI: 88223; HomoloGene: 7249; GeneCards: C1QA; OMA:C1QA - orthologs

Chr.Chromosome 1 (human)^[1]

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C1QA
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1PK6, 2JG8, 2JG9, 2WNU, 2WNV, 5HZF, 5HKJ
Identifiers
Aliases	C1QA, complement C1q A chain
External IDs	OMIM: 120550; MGI: 88223; HomoloGene: 7249; GeneCards: C1QA; OMA:C1QA - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p36.12 Start 22,635,077 bp[1] End 22,639,678 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4 D3|4 69.05 cM Start 136,623,228 bp[2] End 136,626,114 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in spleen right lung decidua gallbladder right coronary artery lymph node right adrenal cortex upper lobe of left lung lower lobe of lung gastric mucosa Top expressed in stroma of bone marrow spleen mesenteric lymph nodes calvaria ankle ankle joint thymus tibiofemoral joint interventricular septum subcutaneous adipose tissue More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding serine-type endopeptidase activity amyloid-beta binding Cellular component extracellular region collagen complement component C1 complex collagen-containing extracellular matrix synapse postsynapse amyloid-beta complex Biological process immune system process complement activation cell-cell signaling complement activation, classical pathway response to iron ion innate immune response proteolysis regulation of complement activation ageing neuron remodeling synapse organization positive regulation of astrocyte activation synapse pruning complement-mediated synapse pruning vertebrate eye-specific patterning positive regulation of neuron death positive regulation of microglial cell activation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 712 12259 Ensembl ENSG00000173372 ENSMUSG00000036887 UniProt P02745 P98086 RefSeq (mRNA) NM_015991 NM_001347465 NM_001347466 NM_007572 RefSeq (protein) NP_001334394 NP_001334395 NP_057075 NP_031598 Location (UCSC) Chr 1: 22.64 – 22.64 Mb Chr 4: 136.62 – 136.63 Mb PubMed search [3] [4]
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This gene encodes a major constituent of the human complement system 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.^[6]