| C4B | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | C4B, C4B1, C4B12, C4B2, C4B3, C4B5, C4BD, C4B_2, C4F, CH, CO4, CPAMD3, Complement component 4B, complement component 4B (Chido blood group), complement C4B (Chido blood group) | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 120820 MGI: 88228 HomoloGene: 36030 GeneCards: C4B | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Complement component 4B (Chido blood group) is a kind of the Complement component 4 protein that in humans is encoded by the C4B gene.[5]
This gene encodes the basic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the RCCX locus within the major histocompatibility complex (MHC) class III region on chromosome 6.[6][7] Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. [provided by RefSeq, Jul 2008].[5] Each copy of the gene, due to five adjacent nucleotide substitutions cause four amino acid changes and immunological subfunctionalization,[8] can be of one of two types: C4A and C4B.[9] Each gene contains 41 exons and has a dichotomous size variation between approximately 22 kb and 16 kb, with the longer variant being the result of the integration of the endogenous retrovirus HERV-K(C4) into intron 9.[7]
See also
References
- 1 2 3 ENSG00000236625, ENSG00000224389, ENSG00000228454, ENSG00000224639 GRCh38: Ensembl release 89: ENSG00000228267, ENSG00000236625, ENSG00000224389, ENSG00000228454, ENSG00000224639 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000073418 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- 1 2 "Entrez Gene: Complement component 4B (Chido blood group)". Retrieved 2012-01-27.
- ↑ Zhou D, Rudnicki M, Chua GT, Lawrance SK, Zhou B, Drew JL, Barbar-Smiley F, Armstrong TK, Hilt ME, Birmingham DJ, Passler W, Auletta JJ, Bowden SA, Hoffman RP, Wu YL, Jarjour WN, Mok CC, Ardoin SP, Lau YL, Yu CY (2021). "Human Complement C4B Allotypes and Deficiencies in Selected Cases With Autoimmune Diseases". Front Immunol. 12: 739430. doi:10.3389/fimmu.2021.739430. PMC 8577214. PMID 34764957.
- 1 2 Carrozza C, Foca L, De Paolis E, Concolino P (2021). "Genes and Pseudogenes: Complexity of the RCCX Locus and Disease". Front Endocrinol (Lausanne). 12: 709758. doi:10.3389/fendo.2021.709758. PMC 8362596. PMID 34394006.
- ↑ Bánlaki Z, Szabó JA, Szilágyi Á, Patócs A, Prohászka Z, Füst G, Doleschall M (2013). "Intraspecific evolution of human RCCX copy number variation traced by haplotypes of the CYP21A2 gene". Genome Biol Evol. 5 (1): 98–112. doi:10.1093/gbe/evs121. PMC 3595039. PMID 23241443.
- ↑ Doleschall M, Luczay A, Koncz K, Hadzsiev K, Erhardt É, Szilágyi Á, Doleschall Z, Németh K, Török D, Prohászka Z, Gereben B, Fekete G, Gláz E, Igaz P, Korbonits M, Tóth M, Rácz K, Patócs A (June 2017). "A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics". Eur J Hum Genet. 25 (6): 702–710. doi:10.1038/ejhg.2017.38. PMC 5477366. PMID 28401898.
Further reading
- Yu CY (1998). "Molecular genetics of the human MHC complement gene cluster". Experimental and Clinical Immunogenetics. 15 (4): 213–30. doi:10.1159/000019075. PMID 10072631. S2CID 25061446.
- Yang Z, Mendoza AR, Welch TR, Zipf WB, Yu CY (Apr 1999). "Modular variations of the human major histocompatibility complex class III genes for serine/threonine kinase RP, complement component C4, steroid 21-hydroxylase CYP21, and tenascin TNX (the RCCX module). A mechanism for gene deletions and disease associations". The Journal of Biological Chemistry. 274 (17): 12147–56. doi:10.1074/jbc.274.17.12147. PMID 10207042.
- Blom AM, Webb J, Villoutreix BO, Dahlbäck B (Jul 1999). "A cluster of positively charged amino acids in the C4BP alpha-chain is crucial for C4b binding and factor I cofactor function". The Journal of Biological Chemistry. 274 (27): 19237–45. doi:10.1074/jbc.274.27.19237. PMID 10383431.
- Tas SW, Klickstein LB, Barbashov SF, Nicholson-Weller A (Nov 1999). "C1q and C4b bind simultaneously to CR1 and additively support erythrocyte adhesion". Journal of Immunology. 163 (9): 5056–63. doi:10.4049/jimmunol.163.9.5056. PMID 10528211. S2CID 46016135.
- Aoki H, Takizawa F, Tsuji S, Nagasawa S (Jul 2000). "Elongation factor-1alpha as a homologous complement activator of Jurkat cells". International Journal of Molecular Medicine. 6 (1): 87–92. doi:10.3892/ijmm.6.1.87. PMID 10851272.
- Teisberg P, Akesson I, Olaisen B, Gedde-Dahl T, Thorsby E (Nov 1976). "Genetic polymorphism of C4 in man and localisation of a structural C4 locus to the HLA gene complex of chromosome 6". Nature. 264 (5583): 253–4. Bibcode:1976Natur.264..253T. doi:10.1038/264253a0. PMID 1088823. S2CID 4241132.
- Pan Q, Ebanks RO, Isenman DE (Sep 2000). "Two clusters of acidic amino acids near the NH2 terminus of complement component C4 alpha'-chain are important for C2 binding". Journal of Immunology. 165 (5): 2518–27. doi:10.4049/jimmunol.165.5.2518. PMID 10946278.
- Kramer J, Harcos P, Prohászka Z, Horváth L, Karádi I, Singh M, Császár A, Romics L, Füst G (Nov 2000). "Frequencies of certain complement protein alleles and serum levels of anti-heat-shock protein antibodies in cerebrovascular diseases". Stroke: A Journal of Cerebral Circulation. 31 (11): 2648–52. doi:10.1161/01.STR.31.11.2648. PMID 11062289. S2CID 14128121.
- Dragon-Durey MA, Rougier N, Clauvel JP, Caillat-Zucman S, Remy P, Guillevin L, Liote F, Blouin J, Ariey F, Lambert BU, Kazatchkine MD, Weiss L (Jan 2001). "Lack of evidence of a specific role for C4A gene deficiency in determining disease susceptibility among C4-deficient patients with systemic lupus erythematosus (SLE)". Clinical and Experimental Immunology. 123 (1): 133–9. doi:10.1046/j.1365-2249.2001.01438.x. PMC 1905972. PMID 11168010.
- Laich A, Sim RB (Jan 2001). "Complement C4bC2 complex formation: an investigation by surface plasmon resonance". Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology. 1544 (1–2): 96–112. doi:10.1016/S0167-4838(00)00208-9. PMID 11341920.
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