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KMT5B

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

Histone-lysine N-methyltransferase KMT5B is an enzyme that in humans is encoded by the KMT5B gene.[5][6][7] The enzyme along with NSD2 is responsible for dimethylation of lysine 20 on histone H4 in mouse and humans.[8][9]

AliasesKMT5B, CGI85, CGI-85, SUV420H1, lysine methyltransferase 5B, MRD51
PDBOrtholog search: PDBe RCSB
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KMT5B
Identifiers
AliasesKMT5B, CGI85, CGI-85, SUV420H1, lysine methyltransferase 5B, MRD51
External IDsOMIM: 610881; MGI: 2444557; GeneCards: KMT5B
Available structures
PDBOrtholog search: PDBe RCSB
Enzyme activity
EC #BRENDAExPASyKEGGMetaCyc
2.1.1.361
2.1.1.362
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)Chr 11: 68.15 – 68.21 MbChr 19: 3.77 – 3.82 Mb
PubMed search[3][4]
Wikidata
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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]

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