SMARCD3

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.[5][6][7]

SMARCD3
Identifiers
AliasesSMARCD3, BAF60C, CRACD3, Rsc6p, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3
External IDsOMIM: 601737 MGI: 1914243 HomoloGene: 2314 GeneCards: SMARCD3
Gene location (Human)
Chr.Chromosome 7 (human)[1]
Band7q36.1Start151,238,764 bp[1]
End151,277,896 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
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 MbChr 5: 24.59 – 24.62 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[7] 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.[8]

SMARCD3 together with TBX15 triggers development glycolytic fast-twitch muscles by the activation of the Akt/PKB signaling pathway.[9]

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): 2117–30. 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): 140–3. 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): 2673–83. doi:10.1101/gad.207415.112. PMC 3533072. PMID 23222103.
  9. "Enhanced exercise and regenerative capacity in a mouse model that violates size constraints of oxidative muscle fibres | eLife".

Further reading


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