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

View/Edit Human

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

Model organisms

Setmar knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Normal
Homozygous Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Abnormal[4]
Clinical chemistry	Normal
Plasma immunoglobulins	Normal
Haematology	Normal
Peripheral blood lymphocytes	Abnormal[5]
Micronucleus test	Normal
Heart weight	Normal
Skin Histopathology	Normal
Brain histopathology	Normal
Salmonella infection	Normal[6]
Citrobacter infection	Normal[7]
All tests and analysis from[8][9]

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

1. "Human PubMed Reference:".
2. Robertson HM; Zumpano KL (Feb 1998). "Molecular evolution of an ancient mariner transposon, Hsmar1, in the human genome". Gene. 205 (1-2): 203–17. doi:10.1016/S0378-1119(97)00472-1. PMID 9461395.
3. "Entrez Gene: SETMAR SET domain and mariner transposase fusion gene".
4. "Eye morphology data for Setmar". Wellcome Trust Sanger Institute.
5. "Peripheral blood lymphocytes data for Setmar". Wellcome Trust Sanger Institute.
6. "Salmonella infection data for Setmar". Wellcome Trust Sanger Institute.
7. "Citrobacter infection data for Setmar". Wellcome Trust Sanger Institute.
8. Gerdin, AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
9. Mouse Resources Portal, Wellcome Trust Sanger Institute.
10. "International Knockout Mouse Consortium".
11. "Mouse Genome Informatics".
12. Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
13. Dolgin, Elie (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
14. International Mouse Knockout Consortium; Collins, FS; Rossant, J; Wurst, W (2007). "A Mouse for All Reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
15. van der Weyden L; White JK; Adams DJ; Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

Further reading

• Berry R, Stevens TJ, Walter NA, et al. (1995). "Gene-based sequence-tagged-sites (STSs) as the basis for a human gene map.". Nat. Genet. 10 (4): 415–23. doi:10.1038/ng0895-415. PMID 7670491.
• Maruyama K; Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene. 138 (1-2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction.". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
• Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing.". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene. 200 (1-2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Lee SH, Oshige M, Durant ST, et al. (2006). "The SET domain protein Metnase mediates foreign DNA integration and links integration to nonhomologous end-joining repair.". Proc. Natl. Acad. Sci. U.S.A. 102 (50): 18075–80. Bibcode:2005PNAS..10218075L. doi:10.1073/pnas.0503676102. PMC 1312370. PMID 16332963.
• Cordaux R; Udit S; Batzer MA; Feschotte C (2006). "Birth of a chimeric primate gene by capture of the transposase gene from a mobile element.". Proc. Natl. Acad. Sci. U.S.A. 103 (21): 8101–6. Bibcode:2006PNAS..103.8101C. doi:10.1073/pnas.0601161103. PMC 1472436. PMID 16672366.
• Keravala A, Liu D, Lechman ER, et al. (2007). "Hyperactive Himar1 transposase mediates transposition in cell culture and enhances gene expression in vivo.". Hum. Gene Ther. 17 (10): 1006–18. doi:10.1089/hum.2006.17.1006. PMID 16989604.
• Liu D, Bischerour J, Siddique A, et al. (2007). "The human SETMAR protein preserves most of the activities of the ancestral Hsmar1 transposase.". Mol. Cell. Biol. 27 (3): 1125–32. doi:10.1128/MCB.01899-06. PMC 1800679. PMID 17130240.
• Miskey C, Papp B, Mátés L, et al. (2007). "The ancient mariner sails again: transposition of the human Hsmar1 element by a reconstructed transposase and activities of the SETMAR protein on transposon ends.". Mol. Cell. Biol. 27 (12): 4589–600. doi:10.1128/MCB.02027-06. PMC 1900042. PMID 17403897.
• Roman Y, Oshige M, Lee YJ, et al. (2007). "Biochemical characterization of a SET and transposase fusion protein, Metnase: its DNA binding and DNA cleavage activity.". Biochemistry. 46 (40): 11369–76. doi:10.1021/bi7005477. PMC 3374406. PMID 17877369.