SETMAR

SETMAR
Available structures
PDBHuman UniProt search: PDBe RCSB
Identifiers
Aliases SETMAR, HsMar1, METNASE, Mar1, SET domain and mariner transposase fusion gene
External IDs HomoloGene: 121979 GeneCards: SETMAR
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)

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

Model organisms have been used in the study of SETMAR function. A conditional knockout mouse line, called Setmartm1a(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. 1 2 3 4 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 3572410Freely accessible. 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 3218837Freely accessible. PMID 21722353.

Further reading

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