SMARCAL1
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.[1][2][3]
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".[4]
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.[3]
References
- ^ Muthuswami R, Truman PA, Mesner LD, Hockensmith JW (Apr 2000). "A eukaryotic SWI2/SNF2 domain, an exquisite detector of double-stranded to single-stranded DNA transition elements". J Biol Chem 275 (11): 7648–55. doi:10.1074/jbc.275.11.7648. PMID 10713074.
- ^ Coleman MA, Eisen JA, Mohrenweiser HW (Aug 2000). "Cloning and characterization of HARP/SMARCAL1: a prokaryotic HepA-related SNF2 helicase protein from human and mouse". Genomics 65 (3): 274–82. doi:10.1006/geno.2000.6174. PMID 10857751.
- ^ a b "Entrez Gene: SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=50485.
- ^ Yusufzai T, Kadonaga JT (October 2008). "HARP Is an ATP-driven Annealing Helicase". Science 322 (5902): 748–50. doi:10.1126/science.1161233. PMC 2587503. PMID 18974355. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2587503. Lay summary – ScienceDaily (2008-11-02).
External links
Further reading
- Boerkoel CF, Takashima H, John J et al. (2002). "Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia". Nat. Genet. 30 (2): 215–20. doi:10.1038/ng821. PMID 11799392.
- Lou S, Lamfers P, McGuire N, Boerkoel CF (2003). "Longevity in Schimke immuno-osseous dysplasia". J. Med. Genet. 39 (12): 922–5. doi:10.1136/jmg.39.12.922. PMC 1757210. PMID 12471207. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1757210.
- Strausberg RL, Feingold EA, Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- Ota T, Suzuki Y, Nishikawa T et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Gerhard DS, Wagner L, Feingold EA et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
- Bökenkamp A, deJong M, van Wijk JA et al. (2006). "R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia". Pediatr. Nephrol. 20 (12): 1724–8. doi:10.1007/s00467-005-2047-x. PMID 16237566.
- Clewing JM, Antalfy BC, Lücke T et al. (2007). "Schimke immuno‐osseous dysplasia: a clinicopathological correlation". J. Med. Genet. 44 (2): 122–30. doi:10.1136/jmg.2006.044313. PMC 2598061. PMID 16840568. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2598061.