SMARCAL1
{{short description|Protein-coding gene in humans}}
{{Infobox_gene}}
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.{{cite journal | vauthors = Muthuswami R, Truman PA, Mesner LD, Hockensmith JW | title = A eukaryotic SWI2/SNF2 domain, an exquisite detector of double-stranded to single-stranded DNA transition elements | journal = The Journal of Biological Chemistry | volume = 275 | issue = 11 | pages = 7648–55 | date = Mar 2000 | pmid = 10713074 | doi = 10.1074/jbc.275.11.7648 | doi-access = free }}{{cite journal | vauthors = Coleman MA, Eisen JA, Mohrenweiser HW | title = Cloning and characterization of HARP/SMARCAL1: a prokaryotic HepA-related SNF2 helicase protein from human and mouse | journal = Genomics | volume = 65 | issue = 3 | pages = 274–82 | date = May 2000 | pmid = 10857751 | doi = 10.1006/geno.2000.6174 | citeseerx = 10.1.1.186.4879 }}{{cite web | title = Entrez Gene: SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=50485}}
Function
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".{{cite journal | vauthors = Yusufzai T, Kadonaga JT | title = HARP is an ATP-driven annealing helicase | journal = Science | volume = 322 | issue = 5902 | pages = 748–50 | date = Oct 2008 | pmid = 18974355 | pmc = 2587503 | doi = 10.1126/science.1161233 | bibcode = 2008Sci...322..748Y }}
- {{lay source |template = cite press release|url = https://www.sciencedaily.com/releases/2008/10/081030144615.htm |title= Biologists Discover Motor Protein That Rewinds DNA|date= November 2, 2008 |website = ScienceDaily}} This activity is important for two cellular functions: replication fork reversal,{{Cite journal |last=Bétous |first=Rémy |last2=Mason |first2=Aaron C. |last3=Rambo |first3=Robert P. |last4=Bansbach |first4=Carol E. |last5=Badu-Nkansah |first5=Akosua |last6=Sirbu |first6=Bianca M. |last7=Eichman |first7=Brandt F. |last8=Cortez |first8=David |date=2012-01-15 |title=SMARCAL1 catalyzes fork regression and Holliday junction migration to maintain genome stability during DNA replication |url=http://genesdev.cshlp.org/lookup/doi/10.1101/gad.178459.111 |journal=Genes & Development |language=en |volume=26 |issue=2 |pages=151–162 |doi=10.1101/gad.178459.111 |issn=0890-9369 |pmc=3273839 |pmid=22279047}} and R-loop unwinding.{{Cite journal |last=Hodson |first=Charlotte |last2=van Twest |first2=Sylvie |last3=Dylewska |first3=Malgorzata |last4=O’Rourke |first4=Julienne J. |last5=Tan |first5=Winnie |last6=Murphy |first6=Vincent J. |last7=Walia |first7=Mannu |last8=Abbouche |first8=Lara |last9=Nieminuszczy |first9=Jadwiga |last10=Dunn |first10=Elyse |last11=Bythell-Douglas |first11=Rohan |last12=Heierhorst |first12=Jörg |last13=Niedzwiedz |first13=Wojciech |last14=Deans |first14=Andrew J. |date=2022 |title=Branchpoint translocation by fork remodelers as a general mechanism of R-loop removal |url=https://linkinghub.elsevier.com/retrieve/pii/S2211124722016321 |journal=Cell Reports |language=en |volume=41 |issue=10 |pages=111749 |doi=10.1016/j.celrep.2022.111749}}
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.
References
{{reflist|33em}}
Further reading
{{refbegin|33em}}
- {{cite journal | vauthors = Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, André JL, Bogdanovic R, Burguet A, Cockfield S, Cordeiro I, Fründ S, Illies F, Joseph M, Kaitila I, Lama G, Loirat C, McLeod DR, Milford DV, Petty EM, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Spranger J, Stein A, Thiele H, Tizard J, Weksberg R, Lupski JR, Stockton DW | title = Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia | journal = Nature Genetics | volume = 30 | issue = 2 | pages = 215–20 | date = Feb 2002 | pmid = 11799392 | doi = 10.1038/ng821 | s2cid = 8954897 }}
- {{cite journal | vauthors = Lou S, Lamfers P, McGuire N, Boerkoel CF | title = Longevity in Schimke immuno-osseous dysplasia | journal = Journal of Medical Genetics | volume = 39 | issue = 12 | pages = 922–5 | date = Dec 2002 | pmid = 12471207 | pmc = 1757210 | doi = 10.1136/jmg.39.12.922 }}
- {{cite journal | vauthors = Bökenkamp A, deJong M, van Wijk JA, Block D, van Hagen JM, Ludwig M | title = R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia | journal = Pediatric Nephrology | volume = 20 | issue = 12 | pages = 1724–8 | date = Dec 2005 | pmid = 16237566 | doi = 10.1007/s00467-005-2047-x | s2cid = 35371382 }}
- {{cite journal | vauthors = Clewing JM, Antalfy BC, Lücke T, Najafian B, Marwedel KM, Hori A, Powel RM, Do AF, Najera L, SantaCruz K, Hicks MJ, Armstrong DL, Boerkoel CF | title = Schimke immuno-osseous dysplasia: a clinicopathological correlation | journal = Journal of Medical Genetics | volume = 44 | issue = 2 | pages = 122–30 | date = Feb 2007 | pmid = 16840568 | pmc = 2598061 | doi = 10.1136/jmg.2006.044313 }}
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External links
- [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=siod GeneReviews/NCBI/NIH/UW entry on Schimke Immunoosseous Dysplasia]
Category:Genes mutated in mice
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