SMARCA1

Probable global transcription activator SNF2L1 is a protein that in humans is encoded by the SMARCA1 gene.[5][6][7]

SMARCA1
Identifiers
Aliases	SMARCA1, ISWI, NURF140, SNF2L, SNF2L1, SNF2LB, SNF2LT, SWI, SWI2, hSNF2L, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
External IDs	OMIM: 300012 MGI: 1935127 HomoloGene: 55711 GeneCards: SMARCA1
Gene location (Human) Chr. X chromosome (human)[1] Band Xq25-q26.1 Start 129,446,501 bp[1] End 129,523,500 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X|X A4-A5 Start 47,809,368 bp[2] End 47,892,974 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • annealing helicase activity • DNA binding • nucleotide binding • DNA-dependent ATPase activity • GO:0008026 helicase activity • hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides • GO:0001948 protein binding • nucleosome-dependent ATPase activity • nucleic acid binding • nucleosome binding • hydrolase activity • ATP binding • transcription factor binding • ATPase activity • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component • CERF complex • cell nucleus • nucleoplasm • intracellular membrane-bounded organelle • NURF complex Biological process • chromatin remodeling • regulation of transcription, DNA-templated • transcription, DNA-templated • ATP-dependent chromatin remodeling • positive regulation of transcription, DNA-templated • brain development • neuron differentiation • DNA strand renaturation • chromatin organization • regulation of transcription from RNA polymerase II promoter • positive regulation of transcription from RNA polymerase II promoter • nucleosome positioning Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	6594	93761
Ensembl	ENSG00000102038	ENSMUSG00000031099
UniProt	P28370	Q6PGB8
RefSeq (mRNA)	NM_001282874 NM_001282875 NM_003069 NM_139035 NM_001378261 NM_001378262 NM_001378263 NM_001378264	NM_001290708 NM_053123 NM_001358618 NM_001358619
RefSeq (protein)	NP_001269803 NP_001269804 NP_003060 NP_001365190 NP_001365191 NP_001365192 NP_001365193	NP_001277637 NP_444353 NP_001345547 NP_001345548
Location (UCSC)	Chr X: 129.45 – 129.52 Mb	Chr X: 47.81 – 47.89 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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. Two transcript variants encoding different isoforms have been found for this gene.[7]

References

1. GRCh38: Ensembl release 89: ENSG00000102038 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000031099 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Okabe I, Bailey LC, Attree O, Srinivasan S, Perkel JM, Laurent BC, Carlson M, Nelson DL, Nussbaum RL (Oct 1992). "Cloning of human and bovine homologs of SNF2/SWI2: a global activator of transcription in yeast S. cerevisiae". Nucleic Acids Res. 20 (17): 4649–55. doi:10.1093/nar/20.17.4649. PMC 334196. PMID 1408766.
6. Barak O, Lazzaro MA, Lane WS, Speicher DW, Picketts DJ, Shiekhattar R (Nov 2003). "Isolation of human NURF: a regulator of Engrailed gene expression". EMBO J. 22 (22): 6089–100. doi:10.1093/emboj/cdg582. PMC 275440. PMID 14609955.
7. "Entrez Gene: SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1".

Further reading

• Bozhenok L, Wade PA, Varga-Weisz P (2002). "WSTF-ISWI chromatin remodeling complex targets heterochromatic replication foci". EMBO J. 21 (9): 2231–41. doi:10.1093/emboj/21.9.2231. PMC 125993. PMID 11980720.
• Maguire PB, Wynne KJ, Harney DF, et al. (2003). "Identification of the phosphotyrosine proteome from thrombin activated platelets". Proteomics. 2 (6): 642–8. doi:10.1002/1615-9861(200206)2:6<642::AID-PROT642>3.0.CO;2-I. PMID 12112843.
• 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.
• 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.
• Barak O, Lazzaro MA, Cooch NS, et al. (2004). "A tissue-specific, naturally occurring human SNF2L variant inactivates chromatin remodeling". J. Biol. Chem. 279 (43): 45130–8. doi:10.1074/jbc.M406212200. PMID 15310751.
• Wang F, Zhang R, Beischlag TV, et al. (2004). "Roles of Brahma and Brahma/SWI2-related gene 1 in hypoxic induction of the erythropoietin gene". J. Biol. Chem. 279 (45): 46733–41. doi:10.1074/jbc.M409002200. PMID 15347669.
• 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.
• Banting GS, Barak O, Ames TM, et al. (2005). "CECR2, a protein involved in neurulation, forms a novel chromatin remodeling complex with SNF2L". Hum. Mol. Genet. 14 (4): 513–24. doi:10.1093/hmg/ddi048. PMID 15640247.
• Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome". Nature. 434 (7031): 325–37. doi:10.1038/nature03440. PMC 2665286. PMID 15772651.
• Lazzaro MA, Pépin D, Pescador N, et al. (2006). "The imitation switch protein SNF2L regulates steroidogenic acute regulatory protein expression during terminal differentiation of ovarian granulosa cells". Mol. Endocrinol. 20 (10): 2406–17. doi:10.1210/me.2005-0213. PMID 16740656.