• Gene id: 80854

Gene Summary

• Gene Symbol: SETD7   Gene   UCSC   Ensembl
• Aliases: KMT7, SET7, SET7/9, SET9
• Gene name: SET domain containing 7, histone lysine methyltransferase
• Alternate names: histone-lysine N-methyltransferase SETD7, H3-K4-HMTase SETD7, SET domain containing 7, lysine methyltransferase, SET domain containing lysine methyltransferase 7, SET domain-containing protein 7, histone H3-K4 methyltransferase SETD7, histone H3-lysine 4-specif,
• Gene location: 4q31.1 (139556768: 139495933)     Exons: 10     NC_000004.12
• OMIM: 613066

Protein Summary

• Protein general information: Q8WTS6  
  • Name: Histone lysine N methyltransferase SETD7 (EC 2.1.1. ) (Histone H3 K4 methyltransferase SETD7) (H3 K4 HMTase SETD7) (Lysine N methyltransferase 7) (SET domain containing protein 7) (SET7/9)
  • Length: 366  
  • Mass: 40721
  • Tissue specificity: Widely expressed. Expressed in pancreatic islets.
• Sequence:

  MDSDDEMVEEAVEGHLDDDGLPHGFCTVTYSSTDRFEGNFVHGEKNGRGKFFFFDGSTLEGYYVDDALQGQGVYT
  YEDGGVLQGTYVDGELNGPAQEYDTDGRLIFKGQYKDNIRHGVCWIYYPDGGSLVGEVNEDGEMTGEKIAYVYPD
  ERTALYGKFIDGEMIEGKLATLMSTEEGRPHFELMPGNSVYHFDKSTSSCISTNALLPDPYESERVYVAESLISS
  AGEGLFSKVAVGPNTVMSFYNGVRITHQEVDSRDWALNGNTLSLDEETVIDVPEPYNHVSKYCASLGHKANHSFT
  PNCIYDMFVHPRFGPIKCIRTLRAVEADEELTVAYGYDHSPPGKSGPEAPEWYQVELKAFQATQQK

• Structural information:
  • Protein Domains: (214..33-)
    (/note="SET-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00190"-)
  • Interpro: IPR017155  IPR003409  IPR001214  
  • Prosite: PS51577 PS50280
  • PDB: 1H3I 1MT6 1MUF 1N6A 1N6C 1O9S 1XQH 2F69 3CBM 3CBO 3CBP 3M53 3M54 3M55 3M56 3M57 3M58 3M59 3M5A 3OS5 3VUZ 3VV0 4E47 4J7F 4J7I 4J83 4J8O 4JDS 4JLG 5AYF 5EG2 5YLT
  • PDBsum: 1H3I 1MT6 1MUF 1N6A 1N6C 1O9S 1XQH 2F69 3CBM 3CBO 3CBP 3M53 3M54 3M55 3M56 3M57 3M58 3M59 3M5A 3OS5 3VUZ 3VV0 4E47 4J7F 4J7I 4J83 4J8O 4JDS 4JLG 5AYF 5EG2 5YLT
  • DIP: 29045
  • STRING: ENSP00000274031
• Other Databases: GeneCards:  SETD7  Malacards:  SETD7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0018027	peptidyl-lysine dimethylation	IDA	biological process
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:0002039	p53 binding	IPI	molecular function
GO:0018024	histone-lysine N-methyltransferase activity	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0034968	histone lysine methylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0032259	methylation	IEA	biological process
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0070828	heterochromatin organization	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0045471	response to ethanol	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0051570	regulation of histone H3-K9 methylation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0018022	peptidyl-lysine methylation	IEA	biological process
GO:0070828	heterochromatin organization	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0018024	histone-lysine N-methyltransferase activity	IDA	molecular function
GO:0016279	protein-lysine N-methyltransferase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0018024	histone-lysine N-methyltransferase activity	NAS	molecular function
GO:0006325	chromatin organization	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04068	FoxO signaling pathway
hsa00310	Lysine degradation

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray