SUV420h1

Histone methyltransferase that specifically methylates monomethylated 'Lys-20' (H4K20me1) and dimethylated 'Lys-20' (H4K20me2) of histone H4 to produce respectively dimethylated 'Lys-20' (H4K20me2) and trimethylated 'Lys-20' (H4K20me3) and thus regulates transcription and maintenance of genome integrity (PubMed:24396869, PubMed:28114273). In vitro also methylates unmodified 'Lys-20' (H4K20me0) of histone H4 and nucleosomes (PubMed:24396869). H4 'Lys-20' trimethylation represents a specific tag for epigenetic transcriptional repression. Mainly functions in pericentric heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin in these regions. KMT5B is targeted to histone H3 via its interaction with RB1 family proteins (RB1, RBL1 and RBL2) (By similarity). Plays a role in myogenesis by regulating the expression of target genes, such as EID3 (PubMed:23720823). Facilitates TP53BP1 foci formation upon DNA damage and proficient non-homologous end-joining (NHEJ)-directed DNA repair by catalyzing the di- and trimethylation of 'Lys-20' of histone H4 (PubMed:28114273). May play a role in class switch reconbination by catalyzing the di- and trimethylation of 'Lys-20' of histone H4 (By similarity).

Intellectual developmental disorder, autosomal dominant 51

MRD51

A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. Suvar4-20 subfamily.

• Nucleus
• Chromosome
• Associated with pericentric heterochromatin. CBX1 and CBX5 are required for the localization to pericentric heterochromatin (By similarity).

SUV420H1, CGI-85, KMT5B, Histone-lysine N-methyltransferase KMT5B, Lysine N-methyltransferase 5B, Lysine-specific methyltransferase 5B, Suppressor of variegation 4-20 homolog 1, [histone H4]-N-methyl-L-lysine20 N-methyltransferase KMT5B, [histone H4]-lysine20 N-methyltransferase KMT5B, Su(var)4-20 homolog 1, Suv4-20h1

• entrezGene:51111
• omim:610881
• swissprot:Q4FZB7

Proteins

Epigenetics

99188Da