SMARCA1

Protein-coding gene in the species Homo sapiens
SMARCA1
Identifiers
AliasesSMARCA1, ISWI, NURF140, SNF2L, SNF2L1, SNF2LB, SNF2LT, SWI, SWI2, hSNF2L, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
External IDsOMIM: 300012; MGI: 1935127; HomoloGene: 55711; GeneCards: SMARCA1; OMA:SMARCA1 - orthologs
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for SMARCA1
Genomic location for SMARCA1
BandXq25-q26.1Start129,446,501 bp[1]
End129,523,500 bp[1]
Gene location (Mouse)
X chromosome (mouse)
Chr.X chromosome (mouse)[2]
X chromosome (mouse)
Genomic location for SMARCA1
Genomic location for SMARCA1
BandX|X A4Start46,898,245 bp[2]
End46,981,851 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr X: 46.9 – 46.98 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000102038 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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.
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