DISEASES

Disease-gene associations mined from literature

Literature associating KMT5C and adult astrocytic tumour

KMT5C [ENSP00000255613]

Histone-lysine N-methyltransferase KMT5C; 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 . In vitro also methylates unmodified 'Lys-20' (H4K20me0) of histone H4 and nucleosomes . 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. KMT5C is targeted to histone H3 via its interaction with RB1 family proteins (RB1, RBL1 and RBL2) (By similarity). 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 . May play a role in class switch reconbination by catalyzing the di- and trimethylation of 'Lys-20' of histone H4 (By similarity).

Synonyms:  KMT5C,  KMT5Cp,  hKMT5C,  A0A0D9SF94,  Q86Y97 ...

Linkouts:  STRING  Pharos  UniProt  OMIM