SMARCD3 (original) (raw)

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Human protein and coding gene

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)Chromosome 7 (human)Chr.Chromosome 7 (human)[1]Chromosome 7 (human)Genomic location for SMARCD3Genomic location for SMARCD3Band7q36.1Start151,238,764 bp[1]End151,277,896 bp[1]
Gene location (Mouse)Chromosome 5 (mouse)Chr.Chromosome 5 (mouse)[2]Chromosome 5 (mouse)Genomic location for SMARCD3Genomic location for SMARCD3Band5|5 A3Start24,795,816 bp[2]End24,829,409 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed inganglionic eminencenucleus accumbensright hemisphere of cerebellumright auricleanterior pituitaryright frontal lobeanterior cingulate cortexapex of heartcaudate nucleusAmygdalaTop expressed ininterventricular septummuscle of thighinternal carotid arterytriceps brachii muscleskeletal muscle tissuetunica media of zone of aortatemporal musclegastrocnemius musclequadriceps femoris musclemedial head of gastrocnemius muscleMore reference expression dataBioGPSMore reference expression data
Gene ontologyMolecular 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
OrthologsSpeciesHuman MouseEntrez660466993EnsemblENSG00000082014ENSMUSG00000028949UniProtQ6STE5Q6P9Z1RefSeq (mRNA)NM_001003801NM_001003802NM_003078NM_025891RefSeq (protein)NP_001003801NP_001003802NP_003069NP_080167Location (UCSC)Chr 7: 151.24 – 151.28 MbChr 5: 24.8 – 24.83 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

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]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000082014 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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.