SMARCA1

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; OMA:SMARCA1 - orthologs
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 Start 46,898,245 bp [2] End 46,981,851 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Epithelium of choroid plexus tibia endothelial cell ventricular zone right adrenal cortex left adrenal cortex parietal pleura seminal vesicula stromal cell of endometrium cartilage tissue Top expressed in Gonadal ridge vas deferens fossa efferent ductule internal carotid artery atrium trigeminal ganglion ureter external carotid artery ovary More reference expression data BioGPS More reference expression data
Gene ontology Molecular function ATP-dependent DNA/DNA annealing activity DNA binding nucleotide binding ATP-dependent activity, acting on DNA helicase activity hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides protein binding nucleic acid binding nucleosome binding hydrolase activity ATP binding transcription factor binding ATPase activity DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component CERF complex nucleus nucleoplasm intracellular membrane-bounded organelle NURF complex Biological process chromatin remodeling regulation of transcription, DNA-templated transcription, DNA-templated positive regulation of transcription, DNA-templated brain development neuron differentiation chromatin organization regulation of transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II 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: 46.9 – 46.98 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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. S2CID   22665513.
• 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. Bibcode:2002PNAS...9916899M. 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. Bibcode:2005Natur.434..325R. 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.