SETD3 (gene)

SET domain containing 3 (SETD3) is a protein that in humans is encoded by the SETD3 gene.^[5] It is a methyl transferase implicated in the replication of all enteroviruses. A mouse line deficient in SETD3 expression was shown to be immune to enterovirus infection. This could pave the way for the prevention of diseases like the common cold, myocarditis, aseptic meningitis and polio.^[6] SETD3 is capable of methylating the cytoskeletal protein actin on histidine residues.^[7][8]

PDBOrtholog search: PDBe RCSB

AliasesSETD3, C14orf154, SET domain containing 3, SET domain containing 3, actin histidine methyltransferase, hSETD3

External IDsOMIM: 615671; MGI: 1289184; HomoloGene: 41748; GeneCards: SETD3; OMA:SETD3 - orthologs

Chr.Chromosome 14 (human)^[1]

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SETD3
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3SMT
Identifiers
Aliases	SETD3, C14orf154, SET domain containing 3, SET domain containing 3, actin histidine methyltransferase, hSETD3
External IDs	OMIM: 615671; MGI: 1289184; HomoloGene: 41748; GeneCards: SETD3; OMA:SETD3 - orthologs
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q32.2 Start 99,397,748 bp[1] End 99,480,889 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12 F1|12 59.23 cM Start 108,072,690 bp[2] End 108,145,573 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon gastrocnemius muscle kidney tubule muscle of thigh beta cell Skeletal muscle tissue of rectus abdominis parotid gland thoracic diaphragm biceps brachii corpus epididymis Top expressed in muscle of thigh quadriceps femoris muscle superior frontal gyrus cerebellar cortex primary visual cortex muscle tissue dentate gyrus of hippocampal formation granule cell hippocampus proper hypothalamus skeletal muscle tissue More reference expression data BioGPS n/a
Gene ontology Molecular function methyltransferase activity transferase activity histone methyltransferase activity (H3-K4 specific) histone-lysine N-methyltransferase activity histone methyltransferase activity (H3-K36 specific) transcription coactivator activity protein-lysine N-methyltransferase activity Cellular component nucleoplasm nucleus Biological process regulation of transcription, DNA-templated positive regulation of muscle cell differentiation transcription, DNA-templated positive regulation of transcription, DNA-templated peptidyl-lysine methylation methylation positive regulation of transcription by RNA polymerase II peptidyl-lysine dimethylation peptidyl-lysine trimethylation histone H3-K36 methylation peptidyl-lysine monomethylation histone H3-K4 methylation chromatin organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 84193 52690 Ensembl ENSG00000183576 ENSMUSG00000056770 UniProt Q86TU7 Q91WC0 RefSeq (mRNA) NM_032233 NM_199123 NM_028262 NM_001364266 NM_001364267 NM_001364268 NM_001364269 NM_001364270 RefSeq (protein) NP_115609 NP_954574 NP_082538 NP_001351195 NP_001351196 NP_001351197 NP_001351198 NP_001351199 Location (UCSC) Chr 14: 99.4 – 99.48 Mb Chr 12: 108.07 – 108.15 Mb PubMed search [3] [4]
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In patients of the Estrogen Receptor-positive, and Luminal A-type breast cancer classification, a high expression of SETD3 is associated with better relapse-free survival, whereas in patients lacking expression of estrogen-, progesterone- and HER2/neu-receptor, and those affected by a p53-mutation, SETD3 was associated with poor relapse-free survival.^[9]

Downregulation of SETD3 expression with small interfering RNA resulted in an inhibition of cytoskeletal function and invasiveness of triple-negative breast cancer cells.^[9]