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
Gene location (Human)
Chr.	X chromosome (human)
End	129,523,500 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	46,981,851 bp
RNA expression pattern
	Top expressed in
	tibia; ; endothelial cell; ; parietal pleura; ; seminal vesicula; ; stromal cell of endometrium; ; islet of Langerhans; ; germinal epithelium; ; ganglionic eminence; ; visceral pleura; ; Achilles tendon;
	Top expressed in
	vas deferens; ; fossa; ; internal carotid artery; ; atrium; ; trigeminal ganglion; ; ureter; ; external carotid artery; ; ovary; ; suprachiasmatic nucleus; ; median eminence;
	More reference expression data
	; ; ; ;
	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
	6594
	93761
	ENSG00000102038
	ENSMUSG00000031099
	P28370
	Q6PGB8
NM_001282874 ; NM_001282875 ; NM_003069 ; NM_139035 ; NM_001378261 ;
	NM_001378262 ; NM_001378263 ; NM_001378264
	NM_001290708 ; NM_053123 ; NM_001358618 ; NM_001358619
NP_001269803 ; NP_001269804 ; NP_003060 ; NP_001365190 ; NP_001365191 ;
	NP_001365192 ; NP_001365193
	NP_001277637 ; NP_444353 ; NP_001345547 ; NP_001345548
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated December 12, 2023

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]

Related Research Articles

RSC is a member of the ATP-dependent chromatin remodeler family. The activity of the RSC complex allows for chromatin to be remodeled by altering the structure of the nucleosome.

In molecular biology, SWI/SNF, is a subfamily of ATP-dependent chromatin remodeling complexes, which is found in eukaryotes. In other words, it is a group of proteins that associate to remodel the way DNA is packaged. This complex is composed of several proteins – products of the SWI and SNF genes, as well as other polypeptides. It possesses a DNA-stimulated ATPase activity that can destabilize histone-DNA interactions in reconstituted nucleosomes in an ATP-dependent manner, though the exact nature of this structural change is unknown. The SWI/SNF subfamily provides crucial nucleosome rearrangement, which is seen as ejection and/or sliding. The movement of nucleosomes provides easier access to the chromatin, allowing genes to be activated or repressed.

Transcription activator BRG1 also known as ATP-dependent chromatin remodeler SMARCA4 is a protein that in humans is encoded by the SMARCA4 gene.

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 is a protein that in humans is encoded by the SMARCB1 gene.

Probable global transcription activator SNF2L2 is a protein that in humans is encoded by the SMARCA2 gene.

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5 is a protein that in humans is encoded by the SMARCA5 gene.

Actin-like protein 6A is a protein that in humans is encoded by the ACTL6A gene.

AT-rich interactive domain-containing protein 1A is a protein that in humans is encoded by the ARID1A gene.

SWI/SNF complex subunit SMARCC1 is a protein that in humans is encoded by the SMARCC1 gene.

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 is a protein that in humans is encoded by the SMARCE1 gene.

SWI/SNF complex subunit SMARCC2 is a protein that in humans is encoded by the SMARCC2 gene.

Nucleosome-remodeling factor subunit BPTF is a protein that in humans is encoded by the BPTF gene.

AT-rich interactive domain-containing protein 1B is a protein that in humans is encoded by the ARID1B gene. ARID1B is a component of the human SWI/SNF chromatin remodeling complex.

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1 is a protein that in humans is encoded by the SMARCD1 gene.

Helicase-like transcription factor is an enzyme that in humans is encoded by the HLTF gene.

Protein polybromo-1 (PB1) also known as BRG1-associated factor 180 (BAF180) is a protein that in humans is encoded by the PBRM1 gene.

Helicase SRCAP is an enzyme that in humans is encoded by the SRCAP gene.

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3 is a protein that in humans is encoded by the SMARCD3 gene.

Bromodomain adjacent to zinc finger domain protein 1A is a protein that in humans is encoded by the BAZ1A gene.

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2 is a protein that in humans is encoded by the SMARCD2 gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000102038 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000031099 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
↑ 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.
1 2 "Entrez Gene: SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1".

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.

This article on a gene on the human X chromosome and/or its associated protein is a stub. You can help Wikipedia by expanding it.

This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000102038 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid1408766-5] 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.

[pmid14609955-6] 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.

[entrez-7] 1 2 "Entrez Gene: SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1".

[1]

[2]

[3]

[4]

[5]

[6]

[7]

SMARCA1

Related Research Articles

References

Further reading