• Gene id: 387893

Gene Summary

• Gene Symbol: KMT5A   Gene   UCSC   Ensembl
• Aliases: PR-Set7, PR/SET07, SET07, SET8, SETD8
• Gene name: lysine methyltransferase 5A
• Alternate names: N-lysine methyltransferase KMT5A, H4-K20-HMTase KMT5A, H4-K20-HMTase SETD8, H4-K20-specific histone methyltransferase, H4K20-specific histone methyltransferase splice variant Set8b, N-lysine methyltransferase SETD8, PR/SET domain containing protein 8, PR/SET dom,
• Gene location: 12q24.31 (123384131: 123409352)     Exons: 11     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene is a protein-lysine N-methyltransferase that can monomethylate Lys-20 of histone H4 to effect transcriptional repression of some genes. The encoded protein is required for cell proliferation and plays a role in chromatin c

Protein Summary

• Protein general information: Q9NQR1  
  • Name: N lysine methyltransferase KMT5A (EC 2.1.1. ) (H4 K20 HMTase KMT5A) (Histone lysine N methyltransferase KMT5A) (EC 2.1.1.361) (Lysine N methyltransferase 5A) (Lysine specific methylase 5A) (PR/SET domain containing protein 07) (PR Set7) (PR/SET07) (SET do
  • Length: 393  
  • Mass: 42890
• Sequence:

  MGEGGAAAALVAAAAAAAAAAAAVVAGQRRRRLGRRARCHGPGRAAGGKMSKPCAVEAAAAAVAATAPGPEMVER
  RGPGRPRTDGENVFTGQSKIYSYMSPNKCSGMRFPLQEENSVTHHEVKCQGKPLAGIYRKREEKRNAGNAVRSAM
  KSEEQKIKDARKGPLVPFPNQKSEAAEPPKTPPSSCDSTNAAIAKQALKKPIKGKQAPRKKAQGKTQQNRKLTDF
  YPVRRSSRKSKAELQSEERKRIDELIESGKEEGMKIDLIDGKGRGVIATKQFSRGDFVVEYHGDLIEITDAKKRE
  ALYAQDPSTGCYMYYFQYLSKTYCVDATRETNRLGRLINHSKCGNCQTKLHDIDGVPHLILIASRDIAAGEELLY
  DYGDRSKASIEAHPWLKH

• Structural information:
  • Protein Domains: (257..37-)
    (/note="SET-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00190"-)
  • Interpro: IPR016858  IPR001214  
  • Prosite: PS51571 PS50280
  • PDB: 1ZKK 2BQZ 3F9W 3F9X 3F9Y 3F9Z 4IJ8 5HQ2 5T5G 5TEG 5TH7 5V2N 5W1Y 6BOZ
  • PDBsum: 1ZKK 2BQZ 3F9W 3F9X 3F9Y 3F9Z 4IJ8 5HQ2 5T5G 5TEG 5TH7 5V2N 5W1Y 6BOZ
  • DIP: 39133
  • STRING: ENSP00000384629
• Other Databases: GeneCards:  KMT5A  Malacards:  KMT5A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0018026	peptidyl-lysine monomethylation	IDA	biological process
GO:0018024	histone-lysine N-methyltransferase activity	IDA	molecular function
GO:0016279	protein-lysine N-methyltransferase activity	IDA	molecular function
GO:0043516	regulation of DNA damage response, signal transduction by p53 class mediator	IMP	biological process
GO:0002039	p53 binding	IPI	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0018024	histone-lysine N-methyltransferase activity	IEA	molecular function
GO:0051301	cell division	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0016278	lysine N-methyltransferase activity	TAS	molecular function
GO:1901796	regulation of signal transduction by p53 class mediator	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0018024	histone-lysine N-methyltransferase activity	TAS	molecular function
GO:0042799	histone methyltransferase activity (H4-K20 specific)	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0034968	histone lysine methylation	IEA	biological process
GO:0034968	histone lysine methylation	IEA	biological process
GO:0034968	histone lysine methylation	IEA	biological process
GO:0034770	histone H4-K20 methylation	IEA	biological process
GO:0003714	transcription corepressor activity	IDA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00310	Lysine degradation

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R