• Gene id: 9739

Gene Summary

• Gene Symbol: SETD1A   Gene   UCSC   Ensembl
• Aliases: EPEDD, KMT2F, Set1, Set1A
• Gene name: SET domain containing 1A, histone lysine methyltransferase
• Alternate names: histone-lysine N-methyltransferase SETD1A, SET domain containing 1A, SET domain-containing protein 1A, hSET1A, lysine N-methyltransferase 2F, set1/Ash2 histone methyltransferase complex subunit SET1,
• Gene location: 16p11.2 (30956617: 30984663)     Exons: 22     NC_000016.10
• Gene summary(Entrez): The protein encoded by this gene is a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at Lys4. Trimethylation of histone H3 at lysine 4 (H3K4me3) is a chromatin modification known to generally
• OMIM: 606834

Protein Summary

• Protein general information: O15047  
  • Name: Histone lysine N methyltransferase SETD1A (EC 2.1.1.354) (Lysine N methyltransferase 2F) (SET domain containing protein 1A) (hSET1A) (Set1/Ash2 histone methyltransferase complex subunit SET1)
  • Length: 1707  
  • Mass: 186034
• Sequence:

  MDQEGGGDGQKAPSFQWRNYKLIVDPALDPALRRPSQKVYRYDGVHFSVNDSKYIPVEDLQDPRCHVRSKNRDFS
  LPVPKFKLDEFYIGQIPLKEVTFARLNDNVRETFLKDMCRKYGEVEEVEILLHPRTRKHLGLARVLFTSTRGAKE
  TVKNLHLTSVMGNIIHAQLDIKGQQRMKYYELIVNGSYTPQTVPTGGKALSEKFQGSGAATETAESRRRSSSDTA
  AYPAGTTAVGTPGNGTPCSQDTSFSSSRQDTPSSFGQFTPQSSQGTPYTSRGSTPYSQDSAYSSSTTSTSFKPRR
  SENSYQDAFSRRHFSASSASTTASTAIAATTAATASSSASSSSLSSSSSSSSSSSSSQFRSSDANYPAYYESWNR
  YQRHTSYPPRRATREEPPGAPFAENTAERFPPSYTSYLPPEPSRPTDQDYRPPASEAPPPEPPEPGGGGGGGGPS
  PEREEVRTSPRPASPARSGSPAPETTNESVPFAQHSSLDSRIEMLLKEQRSKFSFLASDTEEEEENSSMVLGARD
  TGSEVPSGSGHGPCTPPPAPANFEDVAPTGSGEPGATRESPKANGQNQASPCSSGDDMEISDDDRGGSPPPAPTP
  PQQPPPPPPPPPPPPPYLASLPLGYPPHQPAYLLPPRPDGPPPPEYPPPPPPPPHIYDFVNSLELMDRLGAQWGG
  MPMSFQMQTQMLTRLHQLRQGKGLIAASAGPPGGAFGEAFLPFPPPQEAAYGLPYALYAQGQEGRGAYSREAYHL
  PMPMAAEPLPSSSVSGEEARLPPREEAELAEGKTLPTAGTVGRVLAMLVQEMKSIMQRDLNRKMVENVAFGAFDQ
  WWESKEEKAKPFQNAAKQQAKEEDKEKTKLKEPGLLSLVDWAKSGGTTGIEAFAFGSGLRGALRLPSFKVKRKEP
  SEISEASEEKRPRPSTPAEEDEDDPEQEKEAGEPGRPGTKPPKRDEERGKTQGKHRKSFALDSEGEEASQESSSE
  KDEEDDEEDEEDEDREEAVDTTKKETEVSDGEDEESDSSSKCSLYADSDGENDSTSDSESSSSSSSSSSSSSSSS
  SSSSSSSSESSSEDEEEEERPAALPSASPPPREVPVPTPAPVEVPVPERVAGSPVTPLPEQEASPARPAGPTEES
  PPSAPLRPPEPPAGPPAPAPRPDERPSSPIPLLPPPKKRRKTVSFSAIEVVPAPEPPPATPPQAKFPGPASRKAP
  RGVERTIRNLPLDHASLVKSWPEEVSRGGRSRAGGRGRLTEEEEAEPGTEVDLAVLADLALTPARRGLPALPAVE
  DSEATETSDEAERPRPLLSHILLEHNYALAVKPTPPAPALRPPEPVPAPAALFSSPADEVLEAPEVVVAEAEEPK
  PQQLQQQREEGEEEGEEEGEEEEEESSDSSSSSDGEGALRRRSLRSHARRRRPPPPPPPPPPRAYEPRSEFEQMT
  ILYDIWNSGLDSEDMSYLRLTYERLLQQTSGADWLNDTHWVHHTITNLTTPKRKRRPQDGPREHQTGSARSEGYY
  PISKKEKDKYLDVCPVSARQLEGVDTQGTNRVLSERRSEQRRLLSAIGTSAIMDSDLLKLNQLKFRKKKLRFGRS
  RIHEWGLFAMEPIAADEMVIEYVGQNIRQMVADMREKRYVQEGIGSSYLFRVDHDTIIDATKCGNLARFINHCCT
  PNCYAKVITIESQKKIVIYSKQPIGVDEEITYDYKFPLEDNKIPCLCGTESCRGSLN

• Structural information:
  • Protein Domains: (84..17-)
    (/note="RRM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176-)
    (1568..168-)
    (/note="SET-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00190-)
    (1691..170-)
    (/note="Post-SET-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00155"-)
  • Interpro: IPR024657  IPR012677  IPR003616  IPR035979  IPR000504   IPR034467  IPR001214  IPR037841  
  • Prosite: PS50868 PS50102 PS50280
  • CDD: cd12548
  • PDB: 3S8S 3UVN 4EWR
  • PDBsum: 3S8S 3UVN 4EWR
  • DIP: 33494
  • STRING: ENSP00000262519
• Other Databases: GeneCards:  SETD1A  Malacards:  SETD1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1902036	regulation of hematopoietic stem cell differentiation	IDA	biological process
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0008134	transcription factor binding	IPI	molecular function
GO:1902275	regulation of chromatin organization	IDA	biological process
GO:0048188	Set1C/COMPASS complex	TAS	cellular component
GO:0097692	histone H3-K4 monomethylation	IDA	biological process
GO:0044648	histone H3-K4 dimethylation	IDA	biological process
GO:0080182	histone H3-K4 trimethylation	IDA	biological process
GO:0048188	Set1C/COMPASS complex	IDA	cellular component
GO:0048188	Set1C/COMPASS complex	IDA	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:0018024	histone-lysine N-methyltransferase activity	IEA	molecular function
GO:0042800	histone methyltransferase activity (H3-K4 specific)	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0048188	Set1C/COMPASS complex	IEA	cellular component
GO:0032259	methylation	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0035097	histone methyltransferase complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0045652	regulation of megakaryocyte differentiation	TAS	biological process
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:0008013	beta-catenin binding	IDA	molecular function
GO:0005634	nucleus	IMP	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0042800	histone methyltransferase activity (H3-K4 specific)	IDA	molecular function
GO:0035097	histone methyltransferase complex	IDA	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

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00310	Lysine degradation

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq