// Workers AI · dad joke modeDoes SMARCAL1 have a repair team? It has a cal to fix things.
| SMARCAL1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | SMARCAL1, HARP, HHARP, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 606622; MGI: 1859183; GeneCards: SMARCAL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 is a protein that in humans is encoded by the SMARCAL1 gene.[5][6][7]
Function
[edit]The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The SMARCAL1 protein convert RPA-bound, single stranded DNA into double-stranded DNA, an enzyme activity termed "annealing helicase".[8] This activity is important for two cellular functions: replication fork reversal,[9] and R-loop unwinding.[10]
The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency.[7]
References
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000138375 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000039354 – 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.
- ↑ Muthuswami R, Truman PA, Mesner LD, Hockensmith JW (March 2000). "A eukaryotic SWI2/SNF2 domain, an exquisite detector of double-stranded to single-stranded DNA transition elements". The Journal of Biological Chemistry. 275 (11): 7648–7655. doi:10.1074/jbc.275.11.7648. PMID 10713074.
- ↑ Coleman MA, Eisen JA, Mohrenweiser HW (May 2000). "Cloning and characterization of HARP/SMARCAL1: a prokaryotic HepA-related SNF2 helicase protein from human and mouse". Genomics. 65 (3): 274–282. doi:10.1006/geno.2000.6174. PMID 10857751.
- 1 2 "Entrez Gene: SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1".
- ↑ Yusufzai T, Kadonaga JT (October 2008). "HARP is an ATP-driven annealing helicase". Science. 322 (5902). New York, N.Y.: 748–750. Bibcode:2008Sci...322..748Y. doi:10.1126/science.1161233. PMC 2587503. PMID 18974355.
- Lay summary in: "Biologists Discover Motor Protein That Rewinds DNA". ScienceDaily (Press release). November 2, 2008.
- ↑ Bétous R, Mason AC, Rambo RP, Bansbach CE, Badu-Nkansah A, Sirbu BM, et al. (January 2012). "SMARCAL1 catalyzes fork regression and Holliday junction migration to maintain genome stability during DNA replication". Genes & Development. 26 (2): 151–162. doi:10.1101/gad.178459.111. PMC 3273839. PMID 22279047.
- ↑ Hodson C, van Twest S, Dylewska M, O'Rourke JJ, Tan W, Murphy VJ, et al. (December 2022). "Branchpoint translocation by fork remodelers as a general mechanism of R-loop removal". Cell Reports. 41 (10) 111749. doi:10.1016/j.celrep.2022.111749. PMID 36476850.
Further reading
[edit]- Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, et al. (February 2002). "Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia". Nature Genetics. 30 (2): 215–220. doi:10.1038/ng821. PMID 11799392. S2CID 8954897.
- Lou S, Lamfers P, McGuire N, Boerkoel CF (December 2002). "Longevity in Schimke immuno-osseous dysplasia". Journal of Medical Genetics. 39 (12): 922–925. doi:10.1136/jmg.39.12.922. PMC 1757210. PMID 12471207.
- Bökenkamp A, deJong M, van Wijk JA, Block D, van Hagen JM, Ludwig M (December 2005). "R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia". Pediatric Nephrology. 20 (12). Berlin, Germany: 1724–1728. doi:10.1007/s00467-005-2047-x. PMID 16237566. S2CID 35371382.
- Clewing JM, Antalfy BC, Lücke T, Najafian B, Marwedel KM, Hori A, et al. (February 2007). "Schimke immuno-osseous dysplasia: a clinicopathological correlation". Journal of Medical Genetics. 44 (2): 122–130. doi:10.1136/jmg.2006.044313. PMC 2598061. PMID 16840568.
External links
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