KMT5B

Protein-coding gene in the species Homo sapiens

KMT5B
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

3S8P

Identifiers
AliasesKMT5B, CGI85, CGI-85, SUV420H1, lysine methyltransferase 5B, MRD51
External IDsOMIM: 610881; MGI: 2444557; HomoloGene: 32351; GeneCards: KMT5B; OMA:KMT5B - orthologs
Gene location (Human)
Chromosome 11 (human)
Chr.Chromosome 11 (human)[1]
Chromosome 11 (human)
Genomic location for KMT5B
Genomic location for KMT5B
Band11q13.2Start68,154,863 bp[1]
End68,213,828 bp[1]
Gene location (Mouse)
Chromosome 19 (mouse)
Chr.Chromosome 19 (mouse)[2]
Chromosome 19 (mouse)
Genomic location for KMT5B
Genomic location for KMT5B
Band19|19 AStart3,767,421 bp[2]
End3,818,303 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • mucosa of paranasal sinus

  • visceral pleura

  • caput epididymis

  • sperm

  • pylorus

  • ganglionic eminence

  • cardia

  • ventricular zone

  • parietal pleura

  • superior surface of tongue
Top expressed in
  • tail of embryo

  • genital tubercle

  • neural layer of retina

  • granulocyte

  • interventricular septum

  • ganglionic eminence

  • ventricular zone

  • Rostral migratory stream

  • superior cervical ganglion

  • thymus
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • methyltransferase activity
  • transferase activity
  • histone methyltransferase activity (H4-K20 specific)
  • histone-lysine N-methyltransferase activity
  • protein binding
Cellular component
  • chromosome
  • nucleus
  • nucleoplasm
Biological process
  • histone H4-K20 trimethylation
  • muscle organ development
  • histone methylation
  • methylation
  • regulation of transcription, DNA-templated
  • transcription, DNA-templated
  • chromatin organization
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

51111

225888

Ensembl

ENSG00000110066

ENSMUSG00000045098

UniProt

Q4FZB7

Q3U8K7

RefSeq (mRNA)
NM_001300907
NM_001300908
NM_001300909
NM_016028
NM_017635

NM_001363566

NM_001167884
NM_001167885
NM_001167886
NM_001167887
NM_001167888

NM_001167889
NM_144871
NM_001379678
NM_001379679
NM_001379680

RefSeq (protein)
NP_001287836
NP_001287837
NP_001287838
NP_057112
NP_060105

NP_001350495
NP_001356353
NP_001356354
NP_001356355
NP_001356356
NP_001356357
NP_001356358
NP_001356359
NP_001356360
NP_001356361
NP_001356362

NP_001161356
NP_001161357
NP_001161358
NP_001161359
NP_001161360

NP_001161361
NP_659120
NP_001366607
NP_001366608
NP_001366609

Location (UCSC)Chr 11: 68.15 – 68.21 MbChr 19: 3.77 – 3.82 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Histone-lysine N-methyltransferase KMT5B is an enzyme that in humans is encoded by the KMT5B gene.[5][6][7] The enzyme along with WHSC1 is responsible for dimethylation of lysine 20 on histone H4 in mouse and humans.[8][9]

This gene encodes a protein that contains a SET domain. SET domains appear to be protein-protein interaction domains that mediate interactions with a family of proteins that display similarity with dual-specificity phosphatases (dsPTPases). Two alternatively spliced transcript variants have been found for this gene.[7]

Role in pathology

Mutations of the KMT5B gene cause autosomal dominant intellectual developmental disorder 51, a condition first described in 2017 by Stessman et al.[10]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000110066 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000045098 – 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. ^ Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W (Aug 2000). "Identification of Novel Human Genes Evolutionarily Conserved in Caenorhabditis elegans by Comparative Proteomics". Genome Res. 10 (5): 703–13. doi:10.1101/gr.10.5.703. PMC 310876. PMID 10810093.
  6. ^ Twells RC, Metzker ML, Brown SD, Cox R, Garey C, Hammond H, Hey PJ, Levy E, Nakagawa Y, Philips MS, Todd JA, Hess JF (Jun 2001). "The sequence and gene characterization of a 400-kb candidate region for IDDM4 on chromosome 11q13". Genomics. 72 (3): 231–42. doi:10.1006/geno.2000.6492. PMID 11401438.
  7. ^ a b "KMT5B lysine methyltransferase 5B [ Homo sapiens (human) ]".
  8. ^ Schotta G, Sengupta R, Kubicek S, Malin S, Kauer M, Callén E, Celeste A, Pagani M, Opravil S, De La Rosa-Velazquez IA, Espejo A, Bedford MT, Nussenzweig A, Busslinger M, Jenuwein T (2008). "A chromatin-wide transition to H4K20 monomethylation impairs genome integrity and programmed DNA rearrangements in the mouse". Genes Dev. 22 (15): 2048–61. doi:10.1101/gad.476008. PMC 2492754. PMID 18676810.
  9. ^ Pei H, Zhang L, Luo K, Qin Y, Chesi M, Fei F, Bergsagel PL, Wang L, You Z, Lou Z (2011). "MMSET regulates histone H4K20 methylation and 53BP1 accumulation at DNA damage sites". Nature. 470 (7332): 124–8. Bibcode:2011Natur.470..124P. doi:10.1038/nature09658. PMC 3064261. PMID 21293379.
  10. ^ Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid BM, Nordgren A, Lindstrand A, Schwartz C, Kooy RF, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral DG, Scheffer IE, Delatycki MB, Lockhart PJ, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjöld M, Schenck A, Bernier RA, Eichler EE (April 2017). "Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases". Nature Genetics. 49 (4): 515–526. doi:10.1038/ng.3792. PMC 5374041. PMID 28191889.

Further reading

  • 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.
  • Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
  • 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.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • 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.
  • Tryndyak VP, Kovalchuk O, Pogribny IP (2006). "Loss of DNA methylation and histone H4 lysine 20 trimethylation in human breast cancer cells is associated with aberrant expression of DNA methyltransferase 1, Suv4-20h2 histone methyltransferase and methyl-binding proteins". Cancer Biol. Ther. 5 (1): 65–70. doi:10.4161/cbt.5.1.2288. PMID 16322686. S2CID 12268423.
  • Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein–protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.


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