| 1319235 | C1R | complement C1r | This gene encodes a member of the peptidase S1 protein family. The encoded protein is a proteolytic subunit in the complement system C1 complex. The complement system acts as a mediator in the innate immune response by ultimately triggering phagocytosis, inflammation, and rupturing the bacterial cel l wall. Mutations in this gene are associated with Ehlers-Danlos Syndrome. [provided by RefSeq, Dec 2018] | 12 | 7080219 | 7092445 | Human | 264 | symbol , old_gene_name , COSMIC , name , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1346889 | C1RL | complement C1r subcomponent like | Predicted to enable serine-type endopeptidase activity. Predicted to be involved in zymogen activation. Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025] | 12 | 7094554 | 7109214 | Human | 101 | symbol , old_gene_name , COSMIC , name , Human Proteome Map , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 6769130 | C1RL-AS1 | C1RL antisense RNA 1 | ENCODES an ncrna that exhibits U4 snRNA binding (inferred); INVOLVED IN formation of quadruple SL/U4/U5/U6 snRNP (inferred); spliceosomal tri-snRNP complex assembly (inferred); FOUND IN U4/U6 x U5 tri-snRNP complex (inferred); U6 snRNP (inferred); INTERACTS WITH 4,4'-sulfonyldiphenol; antirheumatic drug; aristolochic acid A | 12 | 7108308 | 7121851 | Human | 19 | symbol , COSMIC , name , Human Proteome Map | gene, ncrna, PREDICTED [RefSeq] |
| 1323751 | ASPH | aspartate beta-hydroxylase | This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009] | 8 | 61500556 | 61714592 | Human | 375 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1315493 | C1QA | complement C1q A chain | 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 co mposed 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] | 1 | 22636463 | 22639678 | Human | 237 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1346671 | C1QB | complement C1q B chain | This gene encodes the B-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] | 1 | 22653236 | 22661637 | Human | 270 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1342690 | C1QBP | complement C1q binding protein | The human complement subcomponent C1q associates with C1r and C1s in order to yield the first component of the serum complement system. The protein encoded by this gene is known to bind to the globular heads of C1q molecules and inhibit C1 activation. This prote in has also been identified as the p32 subunit of pre-mRNA splicing factor SF2, as well as a hyaluronic acid-binding protein. [provided by RefSeq, Jul 2008] | 17 | 5432777 | 5439155 | Human | 293 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1315664 | C1QC | complement C1q C chain | 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] | 1 | 22643633 | 22648108 | Human | 193 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1605130 | C1S | complement C1s | This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in this gene are the cause of selective C1s deficiency. [provided by RefSeq, Mar 2009] | 12 | 7060718 | 7071032 | Human | 321 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1312575 | SCUBE3 | signal peptide, CUB domain and EGF like domain containing 3 | This gene encodes a member of the signal peptide, complement subcomponents C1r/C1s, Uegf, bone morphogenetic protein-1 and epidermal growth factor-like domain containing protein family. Overexpression of this gene in human embryonic kidney cells results in secre tion of a glycosylated form of the protein that forms oligomers and tethers to the cell surface. This gene is upregulated in lung cancer tumor tissue compared to healthy tissue and is associated with loss of the epithelial marker E-cadherin and with increased expression of vimentin, a mesenchymal marker. In addition, the protein encoded by this gene is a transforming growth factor beta receptor ligand, and when secreted by cancer cells, it can be cleaved in vitro to release the N-terminal epidermal growth factor-like repeat domain and the C-terminal complement subcomponents C1r/C1s domain. Both the full length protein and C-terminal fragment can bind to the transforming growth factor beta type II receptor to promote the epithelial-mesenchymal transition and tumor angiogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] | 6 | 35213956 | 35253079 | Human | 203 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1344082 | SERPING1 | serpin family G member 1 | This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its encoded protein, C1 inhibitor, inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. It is synth esized in the liver, and its deficiency is associated with hereditary angioneurotic oedema (HANE). Alternative splicing results in multiple transcript variants encoding the same isoform. [provided by RefSeq, May 2020] | 11 | 57597685 | 57614848 | Human | 405 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1320435 | SEZ6 | seizure related 6 homolog | The protein encoded by this gene is thought to contain five cysteine-rich motifs that are similar to sushi domains, as well as two domains similar to the amino terminal half of the CUB (for complement C1r/C1s, Uegf, Bmp1) domain. Mutations in this gene have been associated with febrile seizures. [provided by RefSeq, Jul 2016] | 17 | 28954905 | 29006440 | Human | 127 | description | gene, protein-coding, REVIEWED [RefSeq] |
