KMT5A (original) (raw)

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Protein-coding gene in humans

KMT5A
Available structuresPDBOrtholog search: PDBe RCSB List of PDB id codes1ZKK, 2BQZ, 3F9W, 3F9X, 3F9Y, 3F9Z, 4IJ8, 5HQ2
Identifiers
Aliases KMT5A, PR-Set7, SET07, SET8, SETD8, lysine methyltransferase 5A, PR/SET07
External IDs OMIM: 607240; MGI: 1915206; HomoloGene: 41372; GeneCards: KMT5A; OMA:KMT5A - orthologs
EC number 2.1.1.354
Gene location (Human)Chromosome 12 (human)Chr.Chromosome 12 (human)[1]Chromosome 12 (human)Genomic location for KMT5AGenomic location for KMT5ABand12q24.31Start123,384,132 bp[1]End123,409,353 bp[1]
Gene location (Mouse)Chromosome 5 (mouse)Chr.Chromosome 5 (mouse)[2]Chromosome 5 (mouse)Genomic location for KMT5AGenomic location for KMT5ABand5|5 FStart124,577,993 bp[2]End124,600,371 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed insural nerveventricular zoneright coronary arterythoracic aortaascending aortaDescending thoracic aortaAchilles tendonright lobe of thyroid glandbody of pancreaspopliteal arteryTop expressed intail of embryogenital tuberclegastrulagranulocytemuscle of thighpyloric antrumzygotelipknee jointventricular zoneMore reference expression dataBioGPSMore reference expression data
Gene ontologyMolecular function protein-lysine N-methyltransferase activity methyltransferase activity transcription corepressor activity p53 binding protein binding transferase activity lysine N-methyltransferase activity histone-lysine N-methyltransferase activity histone methyltransferase activity (H4-K20 specific) Cellular component nucleus nucleoplasm chromosome cytosol Biological process methylation regulation of transcription, DNA-templated peptidyl-lysine monomethylation cell cycle negative regulation of transcription by RNA polymerase II negative regulation of transcription, DNA-templated cell division transcription, DNA-templated regulation of DNA damage response, signal transduction by p53 class mediator histone lysine methylation regulation of signal transduction by p53 class mediator histone H4-K20 methylation chromatin organization Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez38789367956EnsemblENSG00000183955ENSMUSG00000049327UniProtQ9NQR1Q2YDW7RefSeq (mRNA)NM_020382NM_001324504NM_001324505NM_001324506NM_001367386NM_001367388NM_001367389NM_030241NM_001310723NM_001310725NM_001310727RefSeq (protein)NP_001311433NP_001311434NP_001311435NP_065115NP_001354315NP_001354317NP_001354318NP_001297652NP_001297654NP_001297656NP_084517NP_001392317NP_001392319Location (UCSC)Chr 12: 123.38 – 123.41 MbChr 5: 124.58 – 124.6 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

N-lysine methyltransferase KMT5A is an enzyme that in humans is encoded by the KMT5A gene.[5][6][7][8] The enzyme is a histone methyltransferase, SET domain-containing and lysine-specific. The enzyme transfers one methyl group to histone H4 lysine residue at position 20. _S_-Adenosyl methionine (SAM) is both the cofactor and the methyl group donor. The lysine residue is converted to _N_6-methyllysine residue.

Leftmost: side chain of lysine. Next: _N_6-methyllysine side chain.

This histone modification is often abbreviated H4K20me1:

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000183955 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000049327 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Couture JF, Collazo E, Brunzelle JS, Trievel RC (June 2005). "Structural and functional analysis of SET8, a histone H4 Lys-20 methyltransferase". Genes & Development. 19 (12): 1455–65. doi:10.1101/gad.1318405. PMC 1151662. PMID 15933070.
  6. ^ Nishioka K, Rice JC, Sarma K, Erdjument-Bromage H, Werner J, Wang Y, Chuikov S, Valenzuela P, Tempst P, Steward R, Lis JT, Allis CD, Reinberg D (June 2002). "PR-Set7 is a nucleosome-specific methyltransferase that modifies lysine 20 of histone H4 and is associated with silent chromatin". Molecular Cell. 9 (6): 1201–13. doi:10.1016/S1097-2765(02)00548-8. PMID 12086618.
  7. ^ Fang J, Feng Q, Ketel CS, Wang H, Cao R, Xia L, Erdjument-Bromage H, Tempst P, Simon JA, Zhang Y (July 2002). "Purification and functional characterization of SET8, a nucleosomal histone H4-lysine 20-specific methyltransferase". Current Biology. 12 (13): 1086–99. Bibcode:2002CBio...12.1086F. doi:10.1016/S0960-9822(02)00924-7. PMID 12121615. S2CID 15504308.
  8. ^ "Entrez Gene: KMT5A lysine methyltransferase 5A [ Homo sapiens (human) ]".