• Gene id: 79918

Gene Summary

• Gene Symbol: SETD6   Gene   UCSC   Ensembl
• Gene name: SET domain containing 6, protein lysine methyltransferase
• Alternate names: N-lysine methyltransferase SETD6, SET domain containing 6, SET domain-containing protein 6,
• Gene location: 16q21 (58515478: 58523841)     Exons: 8     NC_000016.10
• Gene summary(Entrez): This gene encodes a methyltransferase that adds a methyl group to the histone H2AZ, which is involved in nuclear receptor-dependent transcription. The protein also interacts with several endogenous proteins which are involved in nuclear hormone receptor s
• OMIM: 616424

Protein Summary

• Protein general information: Q8TBK2  
  • Name: N lysine methyltransferase SETD6 (EC 2.1.1. ) (SET domain containing protein 6)
  • Length: 473  
  • Mass: 53189
• Sequence:

  MATQAKRPRVAGPVDGGDLDPVACFLSWCRRVGLELSPKVSERAGGRRTRGGARAALTSPPAQVAVSRQGTVAGY
  GMVARESVQAGELLFVVPRAALLSQHTCSIGGLLERERVALQSQSGWVPLLLALLHELQAPASRWRPYFALWPEL
  GRLEHPMFWPEEERRCLLQGTGVPEAVEKDLANIRSEYQSIVLPFMEAHPDLFSLRVRSLELYHQLVALVMAYSF
  QEPLEEEEDEKEPNSPVMVPAADILNHLANHNANLEYSANCLRMVATQPIPKGHEIFNTYGQMANWQLIHMYGFV
  EPYPDNTDDTADIQMVTVREAALQGTKTEAERHLVYERWDFLCKLEMVGEEGAFVIGREEVLTEEELTTTLKVLC
  MPAEEFRELKDQDGGGDDKREEGSLTITNIPKLKASWRQLLQNSVLLTLQTYATDLKTDQGLLSNKEVYAKLSWR
  EQQALQVRYGQKMILHQLLELTS

• Structural information:
  • Protein Domains: (60..28-)
    (/note="SET-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00190"-)
  • Interpro: IPR011383  IPR015353  IPR036464  IPR001214  
  • Prosite: PS50280
  • PDB: 3QXY 3RC0
  • PDBsum: 3QXY 3RC0
  • STRING: ENSP00000219315
• Other Databases: GeneCards:  SETD6  Malacards:  SETD6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IBA	biological process
GO:0051059	NF-kappaB binding	IBA	molecular function
GO:0016279	protein-lysine N-methyltransferase activity	IBA	molecular function
GO:0018026	peptidyl-lysine monomethylation	IBA	biological process
GO:0050727	regulation of inflammatory response	IBA	biological process
GO:0018026	peptidyl-lysine monomethylation	IDA	biological process
GO:0016279	protein-lysine N-methyltransferase activity	IDA	molecular function
GO:0016279	protein-lysine N-methyltransferase activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0034968	histone lysine methylation	IDA	biological process
GO:0050727	regulation of inflammatory response	IMP	biological process
GO:0048863	stem cell differentiation	ISS	biological process
GO:0051059	NF-kappaB binding	IPI	molecular function
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IMP	biological process
GO:0019827	stem cell population maintenance	ISS	biological process
GO:0016279	protein-lysine N-methyltransferase activity	IEA	molecular function
GO:0018026	peptidyl-lysine monomethylation	IEA	biological process
GO:0032259	methylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0016279	protein-lysine N-methyltransferase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048863	stem cell differentiation	IEA	biological process
GO:0019827	stem cell population maintenance	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray