SMARCAL1

From Wikipedia, the free encyclopedia

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1

Identifiers

SMARCAL1; HARP; HHARP

External IDs

OMIM: 606622 MGI: 1859183 HomoloGene: 8558

Gene ontology
Molecular Function:	• nucleotide binding • DNA binding • DNA helicase activity • ATP binding • DNA-dependent ATPase activity • hydrolase activity
Cellular Component:	• nucleus
Biological Process:	• DNA metabolic process • regulation of transcription from RNA polymerase II promoter • chromatin modification

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_014140 (mRNA)
NP_054859 (protein)

NM_018817 (mRNA)
NP_061287 (protein)

Location

Chr 2: 216.99 - 217.06 Mb

Chr 1: 72.52 - 72.57 Mb

Pubmed search

[1]

[2]

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1, also known as SMARCAL1, is a human gene.^[1]

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 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.^[1]

[edit] References

^ ^a ^b Entrez Gene: SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1.

[edit] Further reading

Muthuswami R, Truman PA, Mesner LD, Hockensmith JW (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. PMID 10713074.
Coleman MA, Eisen JA, Mohrenweiser HW (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.
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. PMID 12471207.
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. PMID 12477932.
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. PMID 15489334.
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. PMID 16840568.