• Gene id: 51111

Gene Summary

• Gene Symbol: KMT5B   Gene   UCSC   Ensembl
• Aliases: CGI-85, CGI85, MRD51, SUV420H1
• Gene name: lysine methyltransferase 5B
• Alternate names: histone-lysine N-methyltransferase KMT5B, [histone H4]-N-methyl-L-lysine20 N-methyltransferase KMT5B, [histone H4]-lysine20 N-methyltransferase KMT5B, histone-lysine N-methyltransferase SUV420H1, lysine (K)-specific methyltransferase 5B, lysine N-methyltransfe,
• Gene location: 11q13.2 (114281597: 114305816)     Exons: 14     NC_000013.11
• Gene summary(Entrez): 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). The function o
• OMIM: 610881

Protein Summary

• Protein general information: Q4FZB7  
  • Name: Histone lysine N methyltransferase KMT5B (Lysine N methyltransferase 5B) (Lysine specific methyltransferase 5B) (Suppressor of variegation 4 20 homolog 1) (Su(var)4 20 homolog 1) (Suv4 20h1) ([histone H4] N methyl L lysine20 N methyltransferase KMT5B) (EC
  • Length: 885  
  • Mass: 99188
• Sequence:

  MKWLGESKNMVVNGRRNGGKLSNDHQQNQSKLQHTGKDTLKAGKNAVERRSNRCNGNSGFEGQSRYVPSSGMSAK
  ELCENDDLATSLVLDPYLGFQTHKMNTSAFPSRSSRHFSKSDSFSHNNPVRFRPIKGRQEELKEVIERFKKDEHL
  EKAFKCLTSGEWARHYFLNKNKMQEKLFKEHVFIYLRMFATDSGFEILPCNRYSSEQNGAKIVATKEWKRNDKIE
  LLVGCIAELSEIEENMLLRHGENDFSVMYSTRKNCAQLWLGPAAFINHDCRPNCKFVSTGRDTACVKALRDIEPG
  EEISCYYGDGFFGENNEFCECYTCERRGTGAFKSRVGLPAPAPVINSKYGLRETDKRLNRLKKLGDSSKNSDSQS
  VSSNTDADTTQEKNNATSNRKSSVGVKKNSKSRTLTRQSMSRIPASSNSTSSKLTHINNSRVPKKLKKPAKPLLS
  KIKLRNHCKRLEQKNASRKLEMGNLVLKEPKVVLYKNLPIKKDKEPEGPAQAAVASGCLTRHAAREHRQNPVRGA
  HSQGESSPCTYITRRSVRTRTNLKEASDIKLEPNTLNGYKSSVTEPCPDSGEQLQPAPVLQEEELAHETAQKGEA
  KCHKSDTGMSKKKSRQGKLVKQFAKIEESTPVHDSPGKDDAVPDLMGPHSDQGEHSGTVGVPVSYTDCAPSPVGC
  SVVTSDSFKTKDSFRTAKSKKKRRITRYDAQLILENNSGIPKLTLRRRHDSSSKTNDQENDGMNSSKISIKLSKD
  HDNDNNLYVAKLNNGFNSGSGSSSTKLKIQLKRDEENRGSYTEGLHENGVCCSDPLSLLESRMEVDDYSQYEEES
  TDDSSSSEGDEEEDDYDDDFEDDFIPLPPAKRLRLIVGKDSIDIDISSRRREDQSLRLNA

• Structural information:
  • Protein Domains: (193..30-)
    (/note="SET-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00190"-)
  • Interpro: IPR041938  IPR025790  IPR039977  IPR001214  
  • Prosite: PS51570 PS50280
  • PDB: 3S8P 5CPR 5WBV
  • PDBsum: 3S8P 5CPR 5WBV
  • DIP: 48656
  • STRING: ENSP00000305899
• Other Databases: GeneCards:  KMT5B  Malacards:  KMT5B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0034773	histone H4-K20 trimethylation	IBA	biological process
GO:0042799	histone methyltransferase activity (H4-K20 specific)	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0018024	histone-lysine N-methyltransferase activity	IDA	molecular function
GO:0042799	histone methyltransferase activity (H4-K20 specific)	IDA	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0042799	histone methyltransferase activity (H4-K20 specific)	IMP	molecular function
GO:1904047	S-adenosyl-L-methionine binding	ISS	molecular function
GO:0006281	DNA repair	IMP	biological process
GO:2001034	positive regulation of double-strand break repair via nonhomologous end joining	IMP	biological process
GO:0045830	positive regulation of isotype switching	ISS	biological process
GO:0034773	histone H4-K20 trimethylation	IEA	biological process
GO:0042799	histone methyltransferase activity (H4-K20 specific)	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0007517	muscle organ development	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:1904047	S-adenosyl-L-methionine binding	IEA	molecular function
GO:0042799	histone methyltransferase activity (H4-K20 specific)	IEA	molecular function
GO:0016571	histone methylation	IEA	biological process
GO:0045830	positive regulation of isotype switching	IEA	biological process
GO:0000780	condensed nuclear chromosome, centromeric region	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00310	Lysine degradation

Diseases

Associated diseases	References
Autosomal dominant mental retardation	KEGG:H00773
Autosomal dominant mental retardation	KEGG:H00773
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)