SETD5

SETD5
Identifiers
Aliases	SETD5 , SET domain containing 5, MRD23, SETD5A
External IDs	OMIM: 615743; MGI: 1920145; HomoloGene: 12485; GeneCards: SETD5; OMA:SETD5 - orthologs
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]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in epithelium of colon sural nerve right hemisphere of cerebellum right uterine tube right lobe of thyroid gland ventricular zone body of uterus left lobe of thyroid gland gastric mucosa left ovary Top expressed in genital tubercle tail of embryo hand ascending aorta aortic valve vas deferens ventricular zone Rostral migratory stream human fetus pineal gland More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding histone methyltransferase activity (H3-K9 specific) methyltransferase activity transferase activity histone-lysine N-methyltransferase activity Cellular component nucleus Cdc73/Paf1 complex nucleoplasm Biological process regulation of histone acetylation 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

SET domain containing 5 is a protein that in humans is encoded by the SETD5 gene. ^[5] It is a member of the histone lysine methyltransferase family. Overexpression of SETD5 is associated positively with progression of breast cancer. ^[6] Mutations in SETD5 are associated with a rare developmental disorder termed autosomal dominant mental retardation-23 (MRD23, MIM#615761). ^[7] MRD23 is mainly characterized by variable congenital defects and dysmorphic facies. Clinical features include developmental delay, intellectual disability, chewing abnormalities, hypospadias, and cryptorchidism in males in association with craniofacial dysmorphisms.

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. L. Liu, S. Kimball, H. Liu, A. Holowatyj, Z.Q. Yang (2015). Genetic alterations of histone lysine methyltransferases and their significance in breast cancer, Oncotarget, 6, pp. 2466-2482. https://doi.org/10.18632/oncotarget.2967
7. Grozeva, D., Carss, K., Spasic-Boskovic, O., Parker, M. J., Archer, H., Firth, H. V., Park, S. M., Canham, N., Holder, S. E., Wilson, M., Hackett, A., Field, M., Floyd, J. A., UK10K Consortium, Hurles, M., & Raymond, F. L. (2014). De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability. American Journal of Human Genetics, 94, 618–624. https://doi.org/10.1016/j.ajhg.2014.03.006