SMARCAL1

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SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
Identifiers
Symbols SMARCAL1 ; HARP; HHARP
External IDs OMIM606622 MGI1859183 HomoloGene8558 GeneCards: SMARCAL1 Gene
RNA expression pattern
PBB GE SMARCAL1 218452 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 50485 54380
Ensembl ENSG00000138375 ENSMUSG00000039354
UniProt Q9NZC9 Q8BJL0
RefSeq (mRNA) NM_001127207 NM_018817
RefSeq (protein) NP_001120679 NP_061287
Location (UCSC) Chr 2:
217.28 – 217.35 Mb
Chr 1:
72.58 – 72.63 Mb
PubMed search [1] [2]

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]

Model organisms[edit]

Model organisms have been used in the study of SMARCAL1 function. A conditional knockout mouse line, called Smarcal1tm1a(EUCOMM)Wtsi[7][8] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[9][10][11]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[5][12] Twenty tests were carried out and one significant phenotype was observed: homozygous mutant mice had abnormal brain histopathology, including an enlarged hippocampus and a thickened hippocampus stratum oriens.[5]

References[edit]

  1. ^ 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. 
  2. ^ 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. 
  3. ^ a b "Entrez Gene: SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1". 
  4. ^ 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. Lay summaryScienceDaily (2008-11-02). 
  5. ^ a b c Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. 
  6. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  7. ^ "International Knockout Mouse Consortium". 
  8. ^ "Mouse Genome Informatics". 
  9. ^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.  edit
  10. ^ Dolgin E (2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  11. ^ Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. 
  12. ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353. 

External links[edit]

Further reading[edit]