Contents

SMARCD3

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) Chr. Chromosome 7 (human)[1] Band 7q36.1 Start 151,238,764 bp[1] End 151,277,896 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 A3 Start 24,795,816 bp[2] End 24,829,409 bp[2]
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 [3] [4]
Wikidata
View/Edit Human View/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]

This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by expanding it.