KMT5B

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]

KMT5B
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3S8P
Identifiers
Aliases	KMT5B, CGI85, CGI-85, SUV420H1, lysine methyltransferase 5B, MRD51
External IDs	OMIM: 610881; MGI: 2444557; HomoloGene: 32351; GeneCards: KMT5B; OMA:KMT5B - orthologs
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q13.2 Start 68,154,863 bp[1] End 68,213,828 bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19|19 A Start 3,767,421 bp[2] End 3,818,303 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of paranasal sinus visceral pleura caput epididymis sperm pylorus ganglionic eminence cardia ventricular zone parietal pleura superior surface of tongue Top expressed in tail of embryo genital tubercle neural layer of retina granulocyte interventricular septum ganglionic eminence ventricular zone Rostral migratory stream superior cervical ganglion thymus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function methyltransferase activity transferase activity histone methyltransferase activity (H4-K20 specific) histone-lysine N-methyltransferase activity protein binding Cellular component chromosome nucleus nucleoplasm Biological process histone H4-K20 trimethylation muscle organ development histone methylation methylation regulation of transcription, DNA-templated transcription, DNA-templated chromatin organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 51111 225888 Ensembl ENSG00000110066 ENSMUSG00000045098 UniProt Q4FZB7 Q3U8K7 RefSeq (mRNA) NM_001300907 NM_001300908 NM_001300909 NM_016028 NM_017635 NM_001363566 NM_001167884 NM_001167885 NM_001167886 NM_001167887 NM_001167888 NM_001167889 NM_144871 NM_001379678 NM_001379679 NM_001379680 RefSeq (protein) NP_001287836 NP_001287837 NP_001287838 NP_057112 NP_060105 NP_001350495 NP_001356353 NP_001356354 NP_001356355 NP_001356356 NP_001356357 NP_001356358 NP_001356359 NP_001356360 NP_001356361 NP_001356362 NP_001161356 NP_001161357 NP_001161358 NP_001161359 NP_001161360 NP_001161361 NP_659120 NP_001366607 NP_001366608 NP_001366609 Location (UCSC) Chr 11: 68.15 – 68.21 Mb Chr 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]