KMT5B
entrez
51111
canonical
uniprot
Q4FZB7
canonical
ensembl
ENSG00000110066
resolver
ensp
ENSP00000305899
resolver
ensp
ENSP00000384724
resolver
ensp
ENSP00000385005
resolver
ensp
ENSP00000385640
resolver
ensp
ENSP00000385965
resolver
ensp
ENSP00000403233
resolver
ensp
ENSP00000406377
resolver
ensp
ENSP00000515030
resolver
ensp
ENSP00000652202
resolver
ensp
ENSP00000697300
resolver
enst
ENST00000402185
resolver
enst
ENST00000402789
resolver
enst
ENST00000453170
resolver
enst
ENST00000458496
resolver
enst
ENST00000700523
resolver
genesymbol
KMT5B
resolver
genesymbol_syn
SUV420H1
resolver
hgnc
HGNC:24283
resolver
uniprot
A0A0A0MT19
resolver
uniprot
A0A8V8TQB9
resolver
uniprot
B5MCB3
resolver
uniprot
B7WNX0
resolver
uniprot
B7WNX7
resolver
uniprot
B7Z5N2
resolver
uniprot
C9J6S5
resolver
uniprot
C9JFG1
resolver
uniprot
Q3SX56
resolver
uniprot
Q4V775
resolver
uniprot
Q6P150
resolver
uniprot
Q96E44
resolver
uniprot
Q9BUL0
resolver
uniprot
Q9H022
resolver
uniprot
Q9H2K3
resolver
uniprot
Q9NXV3
resolver
uniprot
Q9Y393
resolver
uniprot_entry
A0A8V8TQB9_HUMAN
resolver
uniprot_entry
B5MCB3_HUMAN
resolver
uniprot_entry
B7WNX0_HUMAN
resolver
uniprot_entry
B7Z5N2_HUMAN
resolver
uniprot_entry
C9J6S5_HUMAN
resolver
uniprot_entry
C9JFG1_HUMAN
resolver
uniprot_entry
KMT5B_HUMAN
resolver
uniprot_sec
A0A0A0MT19
resolver
uniprot_sec
B7WNX7
resolver
uniprot_sec
Q3SX56
resolver
uniprot_sec
Q4V775
resolver
uniprot_sec
Q6P150
resolver
uniprot_sec
Q96E44
resolver
uniprot_sec
Q9BUL0
resolver
uniprot_sec
Q9H022
resolver
uniprot_sec
Q9H2K3
resolver
uniprot_sec
Q9NXV3
resolver
uniprot_sec
Q9Y393
resolver
activity_regulation
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. {ECO:0000269|PubMed:28114273}.
uniprot
proteins
amino_acid_sequence
MKWLGESKNMVVNGRRNGGKLSNDHQQNQSKLQHTGKDTLKAGKNAVERRSNRCNGNSGFEGQSRYVPSSGMSAKELCENDDLATSLVLDPYLGFQTHKMNTSAFPSRSSRHFSKSDSFSHNNPVRFRPIKGRQEELKEVIERFKKDEHLEKAFKCLTSGEWARHYFLNKNKMQEKLFKEHVFIYLRMFATDSGFEILPCNRYSSEQNGAKIVATKEWKRNDKIELLVGCIAELSEIEENMLLRHGENDFSVMYSTRKNCAQLWLGPAAFINHDCRPNCKFVSTGRDTACVKALRDIEPGEEISCYYGDGFFGENNEFCECYTCERRGTGAFKSRVGLPAPAPVINSKYGLRETDKRLNRLKKLGDSSKNSDSQSVSSNTDADTTQEKNNATSNRKSSVGVKKNSKSRTLTRQSMSRIPASSNSTSSKLTHINNSRVPKKLKKPAKPLLSKIKLRNHCKRLEQKNASRKLEMGNLVLKEPKVVLYKNLPIKKDKEPEGPAQAAVASGCLTRHAAREHRQNPVRGAHSQGESSPCTYITRRSVRTRTNLKEASDIKLEPNTLNGYKSSVTEPCPDSGEQLQPAPVLQEEELAHETAQKGEAKCHKSDTGMSKKKSRQGKLVKQFAKIEESTPVHDSPGKDDAVPDLMGPHSDQGEHSGTVGVPVSYTDCAPSPVGCSVVTSDSFKTKDSFRTAKSKKKRRITRYDAQLILENNSGIPKLTLRRRHDSSSKTNDQENDGMNSSKISIKLSKDHDNDNNLYVAKLNNGFNSGSGSSSTKLKIQLKRDEENRGSYTEGLHENGVCCSDPLSLLESRMEVDDYSQYEEESTDDSSSSEGDEEEDDYDDDFEDDFIPLPPAKRLRLIVGKDSIDIDISSRRREDQSLRLNA
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal dominant 51 (MRD51) [MIM:617788]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:28191889, ECO:0000269|PubMed:29276005}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.1.1.361
uniprot
proteins
ec_number
2.1.1.362
uniprot
proteins
function
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). {ECO:0000250|UniProtKB:Q3U8K7, ECO:0000269|PubMed:23720823, ECO:0000269|PubMed:24396869, ECO:0000269|PubMed:28114273}.
uniprot
proteins
mass_dalton
99188
uniprot
proteins
mutagenesis
MUTAGEN 229; /note="G->F: Km for H4K20me1rise to 17 uM. 8-fold decrease in catalytic efficiency."; /evidence="ECO:0000269|PubMed:24396869"; MUTAGEN 229; /note="G->Y: Abolishes histone methyltransferase activity (H4-K20 specific)."; /evidence="ECO:0000269|PubMed:24396869"; MUTAGEN 251; /note="S->A: Abolishes histone methyltransferase activity (H4-K20 specific)."; /evidence="ECO:0000269|PubMed:24396869"; MUTAGEN 264; /note="W->A: Abolishes histone methyltransferase activity (H4-K20 specific)."; /evidence="ECO:0000269|PubMed:24396869"; MUTAGEN 281; /note="F->A: Abolishes histone methyltransferase activity (H4-K20 specific)."; /evidence="ECO:0000269|PubMed:24396869"; MUTAGEN 311; /note="F->A: Km for H4K20me1rise to 8.5 uM. 3-fold decrease in catalytic efficiency."; /evidence="ECO:0000269|PubMed:24396869
uniprot
proteins
protein_family
Class V-like SAM-binding methyltransferase superfamily
uniprot
proteins
protein_family
Histone-lysine methyltransferase family
uniprot
proteins
protein_family
Suvar4-20 subfamily
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
11401438
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16322686
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
23720823
uniprot
proteins
pubmed
24396869
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
25772364
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28114273
uniprot
proteins
pubmed
28191889
uniprot
proteins
pubmed
29276005
uniprot
proteins
sequence_length
885
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23720823}. Chromosome {ECO:0000250}. Note=Associated with pericentric heterochromatin. CBX1 and CBX5 are required for the localization to pericentric heterochromatin (By similarity). {ECO:0000250}.
uniprot
proteins