• Gene id: 23067

Gene Summary

• Gene Symbol: SETD1B   Gene   UCSC   Ensembl
• Aliases: KMT2G, Set1B
• Gene name: SET domain containing 1B, histone lysine methyltransferase
• Alternate names: histone-lysine N-methyltransferase SETD1B, SET domain containing 1B, SET domain-containing protein 1B, lysine N-methyltransferase 2G,
• Gene location: 12q24.31 (121803664: 121832655)     Exons: 6     NC_000012.12
• Gene summary(Entrez): SET1B is a component of a histone methyltransferase complex that produces trimethylated histone H3 at Lys4 (Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM, Mar 2008]
• OMIM: 611055

Protein Summary

• Protein general information: Q9UPS6  
  • Name: Histone lysine N methyltransferase SETD1B (EC 2.1.1.354) (Lysine N methyltransferase 2G) (SET domain containing protein 1B) (hSET1B)
  • Length: 1966  
  • Mass: 212803
• Sequence:

  MENSHPPHHHHQQPPPQPGPSGERRNHHWRSYKLMIDPALKKGHHKLYRYDGQHFSLAMSSNRPVEIVEDPRVVG
  IWTKNKELELSVPKFKIDEFYVGPVPPKQVTFAKLNDNIRENFLRDMCKKYGEVEEVEILYNPKTKKHLGIAKVV
  FATVRGAKDAVQHLHSTSVMGNIIHVELDTKGETRMRFYELLVTGRYTPQTLPVGELDAVSPIVNETLQLSDALK
  RLKDGGLSAGCGSGSSSVTPNSGGTPFSQDTAYSSCRLDTPNSYGQGTPLTPRLGTPFSQDSSYSSRQPTPSYLF
  SQDPAVTFKARRHESKFTDAYNRRHEHHYVHNSPAVTAVAGATAAFRGSSDLPFGAVGGTGGSSGPPFKAQPQDS
  ATFAHTPPPAQATPAPGFKSAFSPYQTPVAHFPPPPEEPTATAAFGARDSGEFRRAPAPPPLPPAEPLAKEKPGT
  PPGPPPPDTNSMELGGRPTFGWSPEPCDSPGTPTLESSPAGPEKPHDSLDSRIEMLLKEQRTKLLFLREPDSDTE
  LQMEGSPISSSSSQLSPLAPFGTNSQPGFRGPTPPSSRPSSTGLEDISPTPLPDSDEDEELDLGLGPRPPPEPGP
  PDPAGLLSQTAEVALDLVGDRTPTSEKMDEGQQSSGEDMEISDDEMPSAPITSADCPKPMVVTPGAAAVAAPSVL
  APTLPLPPPPGFPPLPPPPPPPPPQPGFPMPPPLPPPPPPPPPAHPAVTVPPPPLPAPPGVPPPPILPPLPPFPP
  GLFPVMQVDMSHVLGGQWGGMPMSFQMQTQVLSRLMTGQGACPYPPFMAAAAAAASAGLQFVNLPPYRGPFSLSN
  SGPGRGQHWPPLPKFDPSVPPPGYMPRQEDPHKATVDGVLLVVLKELKAIMKRDLNRKMVEVVAFRAFDEWWDKK
  ERMAKASLTPVKSGEHKDEDRPKPKDRIASCLLESWGKGEGLGYEGLGLGIGLRGAIRLPSFKVKRKEPPDTTSS
  GDQKRLRPSTSVDEEDEESERERDRDMADTPCELAKRDPKGVGVRRRPARPLELDSGGEEDEKESLSASSSSSAS
  SSSGSSTTSPSSSASDKEEEQESTEEEEEAEEEEEEEVPRSQLSSSSTSSTSDKDDDDDDSDDRDESENDDEDTA
  LSEASEKDEGDSDEEETVSIVTSKAEATSSSESSESSEFESSSESSPSSSEDEEEVVAREEEEEEEEEEMVAEES
  MASAGPEDFEQDGEEAALAPGAPAVDSLGMEEEVDIETEAVAPEERPSMLDEPPLPVGVEEPADSREPPEEPGLS
  QEGAMLLSPEPPAKEVEARPPLSPERAPEHDLEVEPEPPMMLPLPLQPPLPPPRPPRPPSPPPEPETTDASHPSV
  PPEPLAEDHPPHTPGLCGSLAKSQSTETVPATPGGEPPLSGGSSGLSLSSPQVPGSPFSYPAPSPSLSSGGLPRT
  PGRDFSFTPTFSEPSGPLLLPVCPLPTGRRDERSGPLASPVLLETGLPLPLPLPLPLPLALPAVLRAQARAPTPL
  PPLLPAPLASCPPPMKRKPGRPRRSPPSMLSLDGPLVRPPAGAALGRELLLLPGQPQTPVFPSTHDPRTVTLDFR
  NAGIPAPPPPLPPQPPPPPPPPPVEPTKLPFKELDNQWPSEAIPPGPRGRDEVTEEYMELAKSRGPWRRPPKKRH
  EDLVPPAGSPELSPPQPLFRPRSEFEEMTILYDIWNGGIDEEDIRFLCVTYERLLQQDNGMDWLNDTLWVYHPST
  SLSSAKKKKRDDGIREHVTGCARSEGFYTIDKKDKLRYLNSSRASTDEPPADTQGMSIPAQPHASTRAGSERRSE
  QRRLLSSFTGSCDSDLLKFNQLKFRKKKLKFCKSHIHDWGLFAMEPIAADEMVIEYVGQNIRQVIADMREKRYED
  EGIGSSYMFRVDHDTIIDATKCGNFARFINHSCNPNCYAKVITVESQKKIVIYSKQHINVNEEITYDYKFPIEDV
  KIPCLCGSENCRGTLN

• Structural information:
  • Protein Domains: (93..18-)
    (/note="RRM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176-)
    (1827..194-)
    (/note="SET-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00190-)
    (1950..196-)
    (/note="Post-SET-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00155"-)
  • Interpro: IPR024657  IPR012677  IPR003616  IPR035979  IPR000504   IPR034468  IPR001214  IPR037842  
  • Prosite: PS50868 PS50102 PS50280
  • CDD: cd12549
  • PDB: 3UVO 4ES0
  • PDBsum: 3UVO 4ES0
  • DIP: 61947
  • STRING: ENSP00000442924
• Other Databases: GeneCards:  SETD1B  Malacards:  SETD1B

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0018024	histone-lysine N-methyltransferase activity	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0048188	Set1C/COMPASS complex	IEA	cellular component
GO:0051568	histone H3-K4 methylation	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0032259	methylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0035097	histone methyltransferase complex	IDA	cellular component
GO:0042800	histone methyltransferase activity (H3-K4 specific)	IDA	contributes to
GO:0051568	histone H3-K4 methylation	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00310	Lysine degradation

Diseases

Associated diseases	References
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