SETMAR

SETMAR
Available structures PDB Human UniProt search: PDBe RCSB List of PDB id codes 3BO5, 3F2K, 3K9J, 3K9K
Identifiers
Aliases	SETMAR, HsMar1, METNASE, Mar1, SET domain and mariner transposase fusion gene
External IDs	HomoloGene: 121979 GeneCards: SETMAR
Gene ontology Molecular function • methyltransferase activity • transferase activity • DNA binding • protein homodimerization activity • structure-specific DNA binding • zinc ion binding • histone methyltransferase activity (H3-K4 specific) • histone-lysine N-methyltransferase activity • metal ion binding • single-stranded DNA binding • single-stranded DNA endodeoxyribonuclease activity • DNA topoisomerase binding • protein binding • catalytic activity • nuclease activity • endonuclease activity • histone methyltransferase activity (H3-K36 specific) • double-stranded DNA binding • hydrolase activity Cellular component • site of double-strand break • chromosome • condensed chromosome • nucleus Biological process • histone H3-K36 dimethylation • DNA integration • nucleic acid phosphodiester bond hydrolysis • positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity • DNA double-strand break processing • positive regulation of double-strand break repair via nonhomologous end joining • DNA catabolic process, endonucleolytic • cellular response to DNA damage stimulus • negative regulation of cell cycle arrest • histone H3-K36 methylation • histone H3-K4 methylation • methylation • replication fork processing • histone lysine methylation • mitotic DNA integrity checkpoint • metabolic process • cell proliferation • double-strand break repair via nonhomologous end joining • negative regulation of chromosome organization • DNA repair • covalent chromatin modification Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	6419	n/a
Ensembl	ENSG00000170364	n/a
UniProt	Q53H47	n/a
RefSeq (mRNA)	NM_001243723 NM_001276325 NM_006515 NM_001320676 NM_001320677 NM_001320678	n/a
RefSeq (protein)	NP_001230652.1 NP_001263254.1 NP_006506.3 NP_001307606.1 NP_001307607.1	n/a
Location (UCSC)	Chr 3: 4.3 – 4.32 Mb	n/a
PubMed search	[1]	n/a
Wikidata

Histone-lysine N-methyltransferase SETMAR is an enzyme that in humans is encoded by the SETMAR gene.^[2][3]

Model organisms

Model organisms have been used in the study of SETMAR function. A conditional knockout mouse line, called Setmar^{tm1a(EUCOMM)Wtsi[10][11]} was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.^[12][13][14]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.^[8][15] Twenty five tests were carried out on mutant mice and two significant abnormalities were observed.^[8] Homozygous mutant animals of both sex had abnormal retinal pigmentation and morphology, while males also had atypical peripheral blood lymphocyte parameters.^[8]

References

Further reading