SETD1B
entrez
23067
canonical
uniprot
Q9UPS6
canonical
ensembl
ENSG00000139718
resolver
ensp
ENSP00000474253
resolver
ensp
ENSP00000481531
resolver
genesymbol
SETD1B
resolver
genesymbol_syn
KIAA1076
resolver
genesymbol_syn
KMT2G
resolver
genesymbol_syn
SET1B
resolver
hgnc
HGNC:29187
resolver
uniprot
F6MFW1
resolver
uniprot_entry
SET1B_HUMAN
resolver
uniprot_sec
F6MFW1
resolver
amino_acid_sequence
MENSHPPHHHHQQPPPQPGPSGERRNHHWRSYKLMIDPALKKGHHKLYRYDGQHFSLAMSSNRPVEIVEDPRVVGIWTKNKELELSVPKFKIDEFYVGPVPPKQVTFAKLNDNIRENFLRDMCKKYGEVEEVEILYNPKTKKHLGIAKVVFATVRGAKDAVQHLHSTSVMGNIIHVELDTKGETRMRFYELLVTGRYTPQTLPVGELDAVSPIVNETLQLSDALKRLKDGGLSAGCGSGSSSVTPNSGGTPFSQDTAYSSCRLDTPNSYGQGTPLTPRLGTPFSQDSSYSSRQPTPSYLFSQDPAVTFKARRHESKFTDAYNRRHEHHYVHNSPAVTAVAGATAAFRGSSDLPFGAVGGTGGSSGPPFKAQPQDSATFAHTPPPAQATPAPGFKSAFSPYQTPVAHFPPPPEEPTATAAFGARDSGEFRRAPAPPPLPPAEPLAKEKPGTPPGPPPPDTNSMELGGRPTFGWSPEPCDSPGTPTLESSPAGPEKPHDSLDSRIEMLLKEQRTKLLFLREPDSDTELQMEGSPISSSSSQLSPLAPFGTNSQPGFRGPTPPSSRPSSTGLEDISPTPLPDSDEDEELDLGLGPRPPPEPGPPDPAGLLSQTAEVALDLVGDRTPTSEKMDEGQQSSGEDMEISDDEMPSAPITSADCPKPMVVTPGAAAVAAPSVLAPTLPLPPPPGFPPLPPPPPPPPPQPGFPMPPPLPPPPPPPPPAHPAVTVPPPPLPAPPGVPPPPILPPLPPFPPGLFPVMQVDMSHVLGGQWGGMPMSFQMQTQVLSRLMTGQGACPYPPFMAAAAAAASAGLQFVNLPPYRGPFSLSNSGPGRGQHWPPLPKFDPSVPPPGYMPRQEDPHKATVDGVLLVVLKELKAIMKRDLNRKMVEVVAFRAFDEWWDKKERMAKASLTPVKSGEHKDEDRPKPKDRIASCLLESWGKGEGLGYEGLGLGIGLRGAIRLPSFKVKRKEPPDTTSSGDQKRLRPSTSVDEEDEESERERDRDMADTPCELAKRDPKGVGVRRRPARPLELDSGGEEDEKESLSASSSSSASSSSGSSTTSPSSSASDKEEEQESTEEEEEAEEEEEEEVPRSQLSSSSTSSTSDKDDDDDDSDDRDESENDDEDTALSEASEKDEGDSDEEETVSIVTSKAEATSSSESSESSEFESSSESSPSSSEDEEEVVAREEEEEEEEEEMVAEESMASAGPEDFEQDGEEAALAPGAPAVDSLGMEEEVDIETEAVAPEERPSMLDEPPLPVGVEEPADSREPPEEPGLSQEGAMLLSPEPPAKEVEARPPLSPERAPEHDLEVEPEPPMMLPLPLQPPLPPPRPPRPPSPPPEPETTDASHPSVPPEPLAEDHPPHTPGLCGSLAKSQSTETVPATPGGEPPLSGGSSGLSLSSPQVPGSPFSYPAPSPSLSSGGLPRTPGRDFSFTPTFSEPSGPLLLPVCPLPTGRRDERSGPLASPVLLETGLPLPLPLPLPLPLALPAVLRAQARAPTPLPPLLPAPLASCPPPMKRKPGRPRRSPPSMLSLDGPLVRPPAGAALGRELLLLPGQPQTPVFPSTHDPRTVTLDFRNAGIPAPPPPLPPQPPPPPPPPPVEPTKLPFKELDNQWPSEAIPPGPRGRDEVTEEYMELAKSRGPWRRPPKKRHEDLVPPAGSPELSPPQPLFRPRSEFEEMTILYDIWNGGIDEEDIRFLCVTYERLLQQDNGMDWLNDTLWVYHPSTSLSSAKKKKRDDGIREHVTGCARSEGFYTIDKKDKLRYLNSSRASTDEPPADTQGMSIPAQPHASTRAGSERRSEQRRLLSSFTGSCDSDLLKFNQLKFRKKKLKFCKSHIHDWGLFAMEPIAADEMVIEYVGQNIRQVIADMREKRYEDEGIGSSYMFRVDHDTIIDATKCGNFARFINHSCNPNCYAKVITVESQKKIVIYSKQHINVNEEITYDYKFPIEDVKIPCLCGSENCRGTLN
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder with seizures and language delay (IDDSELD) [MIM:619000]: An autosomal dominant neurodevelopmental disorder characterized by mild to profound intellectual development impairment, speech and language delay, and seizures. Autism and anxiety are common features. Facial dysmorphism, tapering fingers, and pigmentary skin changes may also be observed. {ECO:0000269|PubMed:29322246, ECO:0000269|PubMed:31110234, ECO:0000269|PubMed:31440728, ECO:0000269|PubMed:31685013, ECO:0000269|PubMed:32546566}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.1.1.364
uniprot
proteins
function
FUNCTION: Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) via a non-processive mechanism (PubMed:17355966, PubMed:25561738). Part of chromatin remodeling machinery, forms H3K4me1, H3K4me2 and H3K4me3 methylation marks at active chromatin sites where transcription and DNA repair take place (PubMed:17355966, PubMed:25561738). Plays an essential role in regulating the transcriptional programming of multipotent hematopoietic progenitor cells and lymphoid lineage specification during hematopoiesis (By similarity). {ECO:0000250|UniProtKB:Q8CFT2, ECO:0000269|PubMed:17355966, ECO:0000269|PubMed:25561738}.
uniprot
proteins
mass_dalton
212803
uniprot
proteins
mutagenesis
MUTAGEN 577; /note="L->A: Abolishes interaction with RBM15."; /evidence="ECO:0000269|PubMed:22927943"; MUTAGEN 579; /note="D->A: Abolishes interaction with RBM15."; /evidence="ECO:0000269|PubMed:22927943"; MUTAGEN 1905; /note="N->A: Abolishes interaction with S-adenosyl-L-methionine."; /evidence="ECO:0000269|PubMed:25561738
uniprot
proteins
protein_family
Class V-like SAM-binding methyltransferase superfamily
uniprot
proteins
pubmed
10470851
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
17355966
uniprot
proteins
pubmed
17998332
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18838538
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
22266653
uniprot
proteins
pubmed
22665483
uniprot
proteins
pubmed
22927943
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23508102
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25561738
uniprot
proteins
pubmed
29322246
uniprot
proteins
pubmed
31110234
uniprot
proteins
pubmed
31440728
uniprot
proteins
pubmed
31685013
uniprot
proteins
pubmed
32546566
uniprot
proteins
pubmed
37030068
uniprot
proteins
pubmed
38003223
uniprot
proteins
sequence_length
1966
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:38003223}. Nucleus speckle {ECO:0000269|PubMed:17355966}. Chromosome {ECO:0000269|PubMed:17355966}. Cytoplasm {ECO:0000269|PubMed:38003223}. Note=Localizes to a largely non-overlapping set of euchromatic nuclear speckles with SETD1A, suggesting that SETD1A and SET1B each bind to a unique set of target genes (Probable) (PubMed:17355966). Predominantly nuclear (PubMed:38003223). {ECO:0000269|PubMed:17355966, ECO:0000269|PubMed:38003223, ECO:0000305|PubMed:38003223}.
uniprot
proteins