UniProt:Q4FZB7 KMT5B

chain
  • chain:1-885
checksum 13B0B6E35F751F48
comment
  • FUNCTION 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).CATALYTIC ACTIVITY N(6)-methyl-L-lysyl(20)-[histone H4] + S-adenosyl-L-methionine = N(6),N(6)-dimethyl-L-lysyl(20)-[histone H4] + S-adenosyl-L-homocysteine + H(+)CATALYTIC ACTIVITY N(6),N(6)-dimethyl-L-lysyl(20)-[histone H4] + S-adenosyl-L-methionine = N(6),N(6),N(6)-trimethyl-L-lysyl(20)-[histone H4] + S-adenosyl-L-homocysteine + H(+)CATALYTIC ACTIVITY L-lysyl(20)-[histone H4] + S-adenosyl-L-methionine = N(6)-methyl-L-lysyl(20)-[histone H4] + S-adenosyl-L-homocysteine + H(+)ACTIVITY REGULATION Inhibited by 6,7-Dichloro-N-cyclopentyl-4-(pyridin-4-yl)phthalazin-1-amine (A-196) with an IC(50) of 25 nM. A-196 is competitive with the histone peptide substrate H4K20me1 but non competitive with S-adenosyl-L-methionine.BIOPHYSICOCHEMICAL PROPERTIES Optimum pH is 8.SUBUNIT Homodimer (PubMed:24396869, Ref.14). Interacts with HP1 proteins CBX1, CBX3 and CBX5. Interacts with RB1 family proteins RB1, RBL1 and RBL2 (By similarity). Interacts (via C-terminus) with FRG1.INTERACTION Associated with pericentric heterochromatin. CBX1 and CBX5 are required for the localization to pericentric heterochromatin (By similarity).ALTERNATIVE PRODUCTS Strongly down-regulated in breast cancer cells.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. Suvar4-20 subfamily.SEQUENCE CAUTION Truncated N-terminus.SEQUENCE CAUTION Wrong choice of frame.SEQUENCE CAUTION Truncated N-terminus.
created [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
crossReference
databaseName UniProt
dbId 249927
description
  • recommendedName: fullName evidence="16"Histone-lysine N-methyltransferase KMT5B alternativeName: Lysine N-methyltransferase 5B alternativeName: fullName evidence="17"Lysine-specific methyltransferase 5B alternativeName: Suppressor of variegation 4-20 homolog 1 shortName: Su(var)4-20 homolog 1 shortName: Suv4-20h1 alternativeName: fullName evidence="16"[histone H4]-N-methyl-L-lysine20 N-methyltransferase KMT5B ecNumber evidence="9 10"2.1.1.362 alternativeName: fullName evidence="16"[histone H4]-lysine20 N-methyltransferase KMT5B ecNumber evidence="9"2.1.1.361
displayName UniProt:Q4FZB7 KMT5B
geneName
  • KMT5B
  • SUV420H1
  • CGI-85
identifier Q4FZB7
isSequenceChanged false
keyword
  • 3D-structure
  • Alternative splicing
  • Chromatin regulator
  • Chromosome
  • Disease variant
  • Intellectual disability
  • Isopeptide bond
  • Metal-binding
  • Methyltransferase
  • Myogenesis
  • Nucleus
  • Proteomics identification
  • Reference proteome
  • Repressor
  • S-adenosyl-L-methionine
  • Transcription
  • Transcription regulation
  • Transferase
  • Ubl conjugation
  • Zinc
modified [InstanceEdit:9939033] Weiser, Joel, 2025-02-21
moleculeType Protein
name
  • KMT5B
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • KMT5B_HUMAN
  • A0A0A0MT19
  • B7WNX7
  • Q3SX56
  • Q4V775
  • Q6P150
  • Q96E44
  • Q9BUL0
  • Q9H022
  • Q9H2K3
  • Q9NXV3
  • Q9Y393
sequenceLength 885
species [Species:48887] Homo sapiens
stId uniprot:Q4FZB7
url http://purl.uniprot.org/uniprot/Q4FZB7
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