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SMARCD3
Identifiers
Aliases	SMARCD3, BAF60C, CRACD3, Rsc6p, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3
External IDs	OMIM: 601737; MGI: 1914243; HomoloGene: 2314; GeneCards: SMARCD3; OMA:SMARCD3 - orthologs
Gene location (Human) Chr. Chromosome 7 (human) Band 7q36.1 Start 151,238,764 bp End 151,277,896 bp
Gene location (Mouse) Chr. Chromosome 5 (mouse) Band 5|5 A3 Start 24,795,816 bp End 24,829,409 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence nucleus accumbens right hemisphere of cerebellum right auricle anterior pituitary right frontal lobe anterior cingulate cortex apex of heart caudate nucleus Amygdala Top expressed in interventricular septum muscle of thigh internal carotid artery triceps brachii muscle skeletal muscle tissue tunica media of zone of aorta temporal muscle gastrocnemius muscle quadriceps femoris muscle medial head of gastrocnemius muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transcription coactivator activity transcription factor binding chromatin binding protein binding nuclear receptor binding nuclear receptor coactivator activity signaling receptor binding Cellular component cytoplasm nBAF complex nucleoplasm npBAF complex nucleus SWI/SNF complex Biological process positive regulation of neuroblast proliferation chromatin remodeling regulation of transcription, DNA-templated cardiac right ventricle formation regulation of transcription by RNA polymerase II heart morphogenesis transcription, DNA-templated nervous system development positive regulation of transcription, DNA-templated muscle cell differentiation nucleosome disassembly positive regulation of smooth muscle cell differentiation positive regulation of G2/M transition of mitotic cell cycle secondary heart field specification regulation of protein binding neural retina development regulation of lipid metabolic process chromatin organization positive regulation of nucleic acid-templated transcription Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6604 66993 Ensembl ENSG00000082014 ENSMUSG00000028949 UniProt Q6STE5 Q6P9Z1 RefSeq (mRNA) NM_001003801 NM_001003802 NM_003078 NM_025891 RefSeq (protein) NP_001003801 NP_001003802 NP_003069 NP_080167 Location (UCSC) Chr 7: 151.24 – 151.28 Mb Chr 5: 24.8 – 24.83 Mb PubMed search
Wikidata
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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.

Function

The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein.

Multiple alternatively spliced transcript variants have been found for this gene. Mutually exclusive incorporation of the variants into the larger SWI/SNF complex are thought to direct the complex to remodel particular sites in chromatin, leading to alterations in gene activity that dictate cell behavior or differentiation during development and disease.

SMARCD3 together with TBX15 triggers development glycolytic fast-twitch muscles by the activation of the Akt/PKB signaling pathway.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000082014 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000028949 – 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. Wang W, Xue Y, Zhou S, Kuo A, Cairns BR, Crabtree GR (September 1996). "Diversity and specialization of mammalian SWI/SNF complexes". Genes & Development. 10 (17): 2117–2130. doi:10.1101/gad.10.17.2117. PMID 8804307.
6. Ring HZ, Vameghi-Meyers V, Wang W, Crabtree GR, Francke U (July 1998). "Five SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin (SMARC) genes are dispersed in the human genome". Genomics. 51 (1): 140–143. doi:10.1006/geno.1998.5343. PMID 9693044.
7. ^ "Entrez Gene: SMARCD3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3".
8. Puri PL, Mercola M (December 2012). "BAF60 A, B, and Cs of muscle determination and renewal". Genes & Development. 26 (24): 2673–2683. doi:10.1101/gad.207415.112. PMC 3533072. PMID 23222103.
9. Omairi S, Matsakas A, Degens H, Kretz O, Hansson KA, Solbrå AV, et al. (August 2016). Cossu G (ed.). "Enhanced exercise and regenerative capacity in a mouse model that violates size constraints of oxidative muscle fibres". eLife. 5: e16940. doi:10.7554/eLife.16940. PMC 4975572. PMID 27494364.

Further reading

• Wang W, Côté J, Xue Y, Zhou S, Khavari PA, Biggar SR, et al. (October 1996). "Purification and biochemical heterogeneity of the mammalian SWI-SNF complex". The EMBO Journal. 15 (19): 5370–5382. doi:10.1002/j.1460-2075.1996.tb00921.x. PMC 452280. PMID 8895581.
• Shanahan F, Seghezzi W, Parry D, Mahony D, Lees E (February 1999). "Cyclin E associates with BAF155 and BRG1, components of the mammalian SWI-SNF complex, and alters the ability of BRG1 to induce growth arrest". Molecular and Cellular Biology. 19 (2): 1460–1469. doi:10.1128/mcb.19.2.1460. PMC 116074. PMID 9891079.
• Barker N, Hurlstone A, Musisi H, Miles A, Bienz M, Clevers H (September 2001). "The chromatin remodelling factor Brg-1 interacts with beta-catenin to promote target gene activation". The EMBO Journal. 20 (17): 4935–4943. doi:10.1093/emboj/20.17.4935. PMC 125268. PMID 11532957.
• Otsuki T, Furukawa Y, Ikeda K, Endo H, Yamashita T, Shinohara A, et al. (November 2001). "Fanconi anemia protein, FANCA, associates with BRG1, a component of the human SWI/SNF complex". Human Molecular Genetics. 10 (23): 2651–2660. doi:10.1093/hmg/10.23.2651. PMID 11726552.
• Nagaraja GM, Kandpal RP (January 2004). "Chromosome 13q12 encoded Rho GTPase activating protein suppresses growth of breast carcinoma cells, and yeast two-hybrid screen shows its interaction with several proteins". Biochemical and Biophysical Research Communications. 313 (3): 654–665. doi:10.1016/j.bbrc.2003.12.001. PMID 14697242.
• Debril MB, Gelman L, Fayard E, Annicotte JS, Rocchi S, Auwerx J (April 2004). "Transcription factors and nuclear receptors interact with the SWI/SNF complex through the BAF60c subunit". The Journal of Biological Chemistry. 279 (16): 16677–16686. doi:10.1074/jbc.M312288200. PMID 14701856.
• Mahmoudi T, Parra M, Vries RG, Kauder SE, Verrijzer CP, Ott M, et al. (July 2006). "The SWI/SNF chromatin-remodeling complex is a cofactor for Tat transactivation of the HIV promoter". The Journal of Biological Chemistry. 281 (29): 19960–19968. doi:10.1074/jbc.M603336200. PMID 16687403.
• Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, et al. (November 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–648. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.

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