SETD5

SET domain containing 5 is a protein that in humans is encoded by the SETD5 gene. [5]

SETD5
Identifiers
Aliases	SETD5, SET domain containing 5
External IDs	OMIM: 615743 MGI: 1920145 HomoloGene: 12485 GeneCards: SETD5
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3p25.3 Start 9,397,615 bp[1] End 9,479,240 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6|6 E3 Start 113,077,365 bp[2] End 113,153,435 bp[2]
Gene ontology Molecular function • GO:0001948 protein binding • histone methyltransferase activity (H3-K9 specific) • methyltransferase activity • transferase activity • histone-lysine N-methyltransferase activity Cellular component • cell nucleus • Cdc73/Paf1 complex • nucleoplasm Biological process • covalent chromatin modification • regulation of histone acetylation • GO:1903308 regulation of chromatin organization • transcription, DNA-templated • regulation of transcription, DNA-templated • chromatin organization • histone H3-K9 methylation • methylation • histone lysine methylation Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	55209	72895
Ensembl	ENSG00000168137	ENSMUSG00000034269
UniProt	Q9C0A6	Q5XJV7
RefSeq (mRNA)	NM_001080517 NM_001292043 NM_018187 NM_001349451	NM_028385 NM_173005
RefSeq (protein)	NP_001073986 NP_001278972 NP_001336380	NP_082661 NP_766593
Location (UCSC)	Chr 3: 9.4 – 9.48 Mb	Chr 6: 113.08 – 113.15 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Model organisms

Model organisms have been used in the study of SETD5 function. A conditional knockout mouse line called Setd5^{tm1a(EUCOMM)Wtsi} was generated at the Wellcome Trust Sanger Institute.[6] Male and female animals underwent a standardized phenotypic screen[7] to determine the effects of deletion.[8][9][10][11] Additional screens performed: - In-depth immunological phenotyping[12]

Setd5 knockout mouse phenotype

Characteristic	Phenotype
All data available at.[7][12]
Insulin	Normal
Homozygous viability at P14	Abnormal
Recessive lethal study	Abnormal
General Observations	Abnormal
Body weight	Abnormal
Neurological assessment	Normal
Grip strength	Normal
Dysmorphology	Abnormal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Abnormal
Eye morphology	Normal
Clinical chemistry	Normal
Haematology 16 Weeks	Normal
Peripheral blood leukocytes 16 Weeks	Abnormal
Micronucleus test	Abnormal
Heart weight	Normal
Spleen Immunophenotyping	Normal
Mesenteric Lymph Node Immunophenotyping	Normal
Bone Marrow Immunophenotyping	Normal
Epidermal Immune Composition	Normal

References

1. GRCh38: Ensembl release 89: ENSG00000168137 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000034269 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: SET domain containing 5". Retrieved 2013-10-07.
6. 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.
7. "International Mouse Phenotyping Consortium".
8. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
9. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
10. Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
11. White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (Jul 2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell. 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207. PMID 23870131.
12. "Infection and Immunity Immunophenotyping (3i) Consortium".