SMARCAL1

SMARCAL1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
Aliases SMARCAL1, HARP, HHARP, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1
External IDs MGI: 1859183 HomoloGene: 8558 GeneCards: SMARCAL1
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

50485

54380

Ensembl

ENSG00000138375

ENSMUSG00000039354

UniProt

Q9NZC9

Q8BJL0

RefSeq (mRNA)

NM_001127207
NM_014140

NM_018817

RefSeq (protein)

NP_001120679.1
NP_054859.2

NP_061287.2

Location (UCSC) Chr 2: 216.41 – 216.48 Mb Chr 1: 72.58 – 72.63 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

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.[3][4][5]

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".[6]

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.[5]

Model organisms

Model organisms have been used in the study of SMARCAL1 function. A conditional knockout mouse line, called Smarcal1tm1a(EUCOMM)Wtsi[9][10] 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.[11][12][13]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[7][14] 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.[7]

References

  1. ↑ "Human PubMed Reference:".
  2. ↑ "Mouse PubMed Reference:".
  3. ↑ Muthuswami R, Truman PA, Mesner LD, Hockensmith JW (Mar 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): 7648–55. doi:10.1074/jbc.275.11.7648. PMID 10713074.
  4. ↑ 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): 274–82. doi:10.1006/geno.2000.6174. PMID 10857751.
  5. 1 2 "Entrez Gene: SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1".
  6. ↑ Yusufzai T, Kadonaga JT (Oct 2008). "HARP is an ATP-driven annealing helicase". Science. 322 (5902): 748–50. doi:10.1126/science.1161233. PMC 2587503Freely accessible. PMID 18974355. Lay summary – ScienceDaily (2008-11-02).
  7. 1 2 3 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.
  8. ↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  9. ↑ "International Knockout Mouse Consortium".
  10. ↑ "Mouse Genome Informatics".
  11. ↑ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410Freely accessible. PMID 21677750.
  12. ↑ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  13. ↑ Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
  14. ↑ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837Freely accessible. PMID 21722353.

Further reading

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