• Gene id: 9869

Gene Summary

• Gene Symbol: SETDB1   Gene   UCSC   Ensembl
• Aliases: ESET, H3-K9-HMTase4, KG1T, KMT1E, TDRD21
• Gene name: SET domain bifurcated histone lysine methyltransferase 1
• Alternate names: histone-lysine N-methyltransferase SETDB1, ERG-associated protein with a SET domain, ESET, SET domain bifurcated 1, histone H3-K9 methyltransferase 4, histone-lysine N-methyltransferase, H3lysine-9 specific 4, lysine N-methyltransferase 1E, tudor domain contain,
• Gene location: 1q21.3 (150926262: 150964736)     Exons: 22     NC_000001.11
• Gene summary(Entrez): This gene encodes a histone methyltransferase which regulates histone methylation, gene silencing, and transcriptional repression. This gene has been identified as a target for treatment in Huntington Disease, given that gene silencing and transcription d
• OMIM: 604396

SNPs

rs757326350

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.18688215T>A
NC_000012.12   g.18688215T>C
NC_000012.11   g.18841149T>A
NC_000012.11   g.18841149T>C
NG_050635.1   g.450251T>A
NG_050635.1   g.450251T>C
NG_052826.1   g.54845A>T
NG_052826.1   g.54845A>G
NM_033123.4   c.1465A>T
NM_033123.4   c.1465A>G
NM_0  

Protein Summary

• Protein general information: Q15047  
  • Name: Histone lysine N methyltransferase SETDB1 (EC 2.1.1. ) (ERG associated protein with SET domain) (ESET) (Histone H3 K9 methyltransferase 4) (H3 K9 HMTase 4) (Lysine N methyltransferase 1E) (SET domain bifurcated 1)
  • Length: 1291  
  • Mass: 143157
  • Tissue specificity: Widely expressed. High expression in testis.
• Sequence:

  MSSLPGCIGLDAATATVESEEIAELQQAVVEELGISMEELRHFIDEELEKMDCVQQRKKQLAELETWVIQKESEV
  AHVDQLFDDASRAVTNCESLVKDFYSKLGLQYRDSSSEDESSRPTEIIEIPDEDDDVLSIDSGDAGSRTPKDQKL
  REAMAALRKSAQDVQKFMDAVNKKSSSQDLHKGTLSQMSGELSKDGDLIVSMRILGKKRTKTWHKGTLIAIQTVG
  PGKKYKVKFDNKGKSLLSGNHIAYDYHPPADKLYVGSRVVAKYKDGNQVWLYAGIVAETPNVKNKLRFLIFFDDG
  YASYVTQSELYPICRPLKKTWEDIEDISCRDFIEEYVTAYPNRPMVLLKSGQLIKTEWEGTWWKSRVEEVDGSLV
  RILFLDDKRCEWIYRGSTRLEPMFSMKTSSASALEKKQGQLRTRPNMGAVRSKGPVVQYTQDLTGTGTQFKPVEP
  PQPTAPPAPPFPPAPPLSPQAGDSDLESQLAQSRKQVAKKSTSFRPGSVGSGHSSPTSPALSENVSGGKPGINQT
  YRSPLGSTASAPAPSALPAPPAPPVFHGMLERAPAEPSYRAPMEKLFYLPHVCSYTCLSRVRPMRNEQYRGKNPL
  LVPLLYDFRRMTARRRVNRKMGFHVIYKTPCGLCLRTMQEIERYLFETGCDFLFLEMFCLDPYVLVDRKFQPYKP
  FYYILDITYGKEDVPLSCVNEIDTTPPPQVAYSKERIPGKGVFINTGPEFLVGCDCKDGCRDKSKCACHQLTIQA
  TACTPGGQINPNSGYQYKRLEECLPTGVYECNKRCKCDPNMCTNRLVQHGLQVRLQLFKTQNKGWGIRCLDDIAK
  GSFVCIYAGKILTDDFADKEGLEMGDEYFANLDHIESVENFKEGYESDAPCSSDSSGVDLKDQEDGNSGTEDPEE
  SNDDSSDDNFCKDEDFSTSSVWRSYATRRQTRGQKENGLSETTSKDSHPPDLGPPHIPVPPSIPVGGCNPPSSEE
  TPKNKVASWLSCNSVSEGGFADSDSHSSFKTNEGGEGRAGGSRMEAEKASTSGLGIKDEGDIKQAKKEDTDDRNK
  MSVVTESSRNYGYNPSPVKPEGLRRPPSKTSMHQSRRLMASAQSNPDDVLTLSSSTESEGESGTSRKPTAGQTSA
  TAVDSDDIQTISSGSEGDDFEDKKNMTGPMKRQVAVKSTRGFALKSTHGIAIKSTNMASVDKGESAPVRKNTRQF
  YDGEESCYIIDAKLEGNLGRYLNHSCSPNLFVQNVFVDTHDLRFPWVAFFASKRIRAGTELTWDYNYEVGSVEGK
  ELLCCCGAIECRGRLL

• Structural information:
  • Protein Domains: (257..32-)
    (/note="Tudor-1)
    (347..40-)
    (/note="Tudor-2)
    (594..66-)
    (/note="MBD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00338-)
    (727..80-)
    (/note="Pre-SET-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00157-)
    (803..1266;-)
  • Interpro: IPR016177  IPR040880  IPR025796  IPR001739  IPR003616   IPR007728  IPR001214  IPR002999  IPR041292  IPR041291  
  • Prosite: PS50982 PS50868 PS50867 PS51573 PS50280
  • PDB: 3DLM 4X3S 5KCH 5KCO 5KE2 5KE3 5KH6 5QT1 5QT2 6AU2 6AU3 6BHD 6BHE 6BHG 6BHH 6BHI 6BPI
  • PDBsum: 3DLM 4X3S 5KCH 5KCO 5KE2 5KE3 5KH6 5QT1 5QT2 6AU2 6AU3 6BHD 6BHE 6BHG 6BHH 6BHI 6BPI
  • DIP: 31029
  • STRING: ENSP00000271640
• Other Databases: GeneCards:  SETDB1  Malacards:  SETDB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046974	histone methyltransferase activity (H3-K9 specific)	IBA	molecular function
GO:0090309	positive regulation of DNA methylation-dependent heterochromatin assembly	IBA	biological process
GO:0070828	heterochromatin organization	IBA	biological process
GO:0051567	histone H3-K9 methylation	IBA	biological process
GO:0010629	negative regulation of gene expression	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0003682	chromatin binding	IDA	molecular function
GO:1990841	promoter-specific chromatin binding	IDA	molecular function
GO:0046974	histone methyltransferase activity (H3-K9 specific)	IDA	molecular function
GO:0018024	histone-lysine N-methyltransferase activity	IDA	molecular function
GO:0007265	Ras protein signal transduction	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0090309	positive regulation of DNA methylation-dependent heterochromatin assembly	IMP	biological process
GO:0005737	cytoplasm	IMP	cellular component
GO:0005634	nucleus	IMP	cellular component
GO:0090309	positive regulation of DNA methylation-dependent heterochromatin assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0090309	positive regulation of DNA methylation-dependent heterochromatin assembly	ISS	biological process
GO:0045869	negative regulation of single stranded viral RNA replication via double stranded DNA intermediate	ISS	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0018024	histone-lysine N-methyltransferase activity	IEA	molecular function
GO:0042025	host cell nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0034968	histone lysine methylation	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
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:0033273	response to vitamin	IEA	biological process
GO:0045471	response to ethanol	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04550	Signaling pathways regulating pluripotency of stem cells
hsa00310	Lysine degradation

Diseases

Associated diseases	References
Prostate cancer	PMID:24556744
autistic disorder	PMID:23055267
Huntington's disease	PMID:17142323
lung cancer	PMID:23770855
Melanoma	PMID:24673285
Malignant glioma	PMID:23943221
Schizophrenia	PMID:23815974
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq