Complement C1r subcomponent (C1R)
The protein contains 705 amino acids for an estimated molecular weight of 80119 Da.
C1r B chain is a serine protease that combines with C1q and C1s to form C1, the first component of the classical pathway of the complement system. (updated: April 1, 2015)
Protein identification was indicated in the following studies:
- Goodman and co-workers. (2013) The proteomics and interactomics of human erythrocytes. Exp Biol Med (Maywood) 238(5), 509-518.
- Hegedűs and co-workers. (2015) Inconsistencies in the red blood cell membrane proteome analysis: generation of a database for research and diagnostic applications. Database (Oxford) 1-8.
- D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
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Biological Process
Complement activation
Complement activation, classical pathway
Immune response
Innate immune response
Regulation of complement activation
Zymogen activation
Cellular Component
Blood microparticle
Extracellular exosome
Extracellular region
Extracellular space
The reference OMIM entry for this protein is 216950
Complement component c1r/c1s deficiency
C1r/c1s deficiency
CLINICAL FEATURES
Day et al. (1972) observed 2 sibs with deficiency of C1r (613785). The brother (18 years old) had shown lupus-like features for 5 years. The sister (24 years old) had had arthralgia and recurrent rhinobronchitis from early childhood. Three sibs had died, 1 at age 12 with symptoms like those in the male and 2 in infancy, probably from infection. Laboratory findings suggested the existence of an alternative pathway for activation of the terminal portion of the complement cascade which does not use the usual early components. Lee et al. (1978) described a family in which 4 of 11 children had absence of C1r and marked deficiency of C1s (120580). Two of the 4 had a syndrome combining discoid lupus erythematosus and nondeforming rheumatoid-like arthritis; 1 had mild nephritis. C1 and C4 deficiencies are more often associated with lupus-like illness than is deficiency of C2. Linkage of HLA and C1 was excluded by the fact that all 4 parental haplotypes were represented in the 4 deficient sibs. Deficiency of C1s has been observed in other cases of C1r absence and may be a secondary effect; however, close linkage of C1s and C1r means that both may be deleted or otherwise deranged. Loos and Heinz (1986) stated that all reported cases of C1r deficiency also had deficiency of C1s. A selective deficiency of C1s has been reported; see 613783.MAPPING
Day et al. (1975) found that C1r deficiency is not linked to the HLA region. Using a panel of human-rodent cell hybrids, Van Cong et al. (1988) assigned the C1r and C1s genes to chromosome 12. In situ hybridization confirmed these assignments and localized the genes to 12p13. ... More on the omim web siteFeb. 2, 2018: Protein entry updated
Automatic update: Uniprot description updated
Dec. 19, 2017: Protein entry updated
Automatic update: Uniprot description updated
Nov. 23, 2017: Protein entry updated
Automatic update: Uniprot description updated
June 20, 2017: Protein entry updated
Automatic update: comparative model was added.
March 25, 2017: Additional information
No protein expression data in P. Mayeux work for C1R
March 16, 2016: Protein entry updated
Automatic update: OMIM entry 216950 was added.
Jan. 24, 2016: Protein entry updated
Automatic update: model status changed