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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q9UPS6 |
| Protein name |
Histone-lysine N-methyltransferase SETD1B (EC 2.1.1.364) (Lysine N-methyltransferase 2G) (SET domain-containing protein 1B) (hSET1B) |
| Protein 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 remodelin |
| PDB |
3UVO
, 4ES0
, 8ILZ
, 8WXV
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| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF00076 |
RRM_1 |
108 → 175 |
RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) |
Domain |
| PF11764 |
N-SET |
1679 → 1821 |
COMPASS (Complex proteins associated with Set1p) component N |
Domain |
| PF00856 |
SET |
1838 → 1944 |
SET domain |
Family |
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| Sequence |
MENSHPPHHHHQQPPPQPGPSGERRNHHWRSYKLMIDPALKKGHHKLYRYDGQHFSLAMS SNRPVEIVEDPRVVGIWTKNKELELSVPKFKIDEFYVGPVPPKQVTFAKLNDNIRENFLR DMCKKYGEVEEVEILYNPKTKKHLGIAKVVFATVRGAKDAVQHLHSTSVMGNIIHVELDT KGETRMRFYELLVTGRYTPQTLPVGELDAVSPIVNETLQLSDALKRLKDGGLSAGCGSGS SSVTPNSGGTPFSQDTAYSSCRLDTPNSYGQGTPLTPRLGTPFSQDSSYSSRQPTPSYLF SQDPAVTFKARRHESKFTDAYNRRHEHHYVHNSPAVTAVAGATAAFRGSSDLPFGAVGGT GGSSGPPFKAQPQDSATFAHTPPPAQATPAPGFKSAFSPYQTPVAHFPPPPEEPTATAAF GARDSGEFRRAPAPPPLPPAEPLAKEKPGTPPGPPPPDTNSMELGGRPTFGWSPEPCDSP GTPTLESSPAGPEKPHDSLDSRIEMLLKEQRTKLLFLREPDSDTELQMEGSPISSSSSQL SPLAPFGTNSQPGFRGPTPPSSRPSSTGLEDISPTPLPDSDEDEELDLGLGPRPPPEPGP PDPAGLLSQTAEVALDLVGDRTPTSEKMDEGQQSSGEDMEISDDEMPSAPITSADCPKPM VVTPGAAAVAAPSVLAPTLPLPPPPGFPPLPPPPPPPPPQPGFPMPPPLPPPPPPPPPAH PAVTVPPPPLPAPPGVPPPPILPPLPPFPPGLFPVMQVDMSHVLGGQWGGMPMSFQMQTQ VLSRLMTGQGACPYPPFMAAAAAAASAGLQFVNLPPYRGPFSLSNSGPGRGQHWPPLPKF DPSVPPPGYMPRQEDPHKATVDGVLLVVLKELKAIMKRDLNRKMVEVVAFRAFDEWWDKK ERMAKASLTPVKSGEHKDEDRPKPKDRIASCLLESWGKGEGLGYEGLGLGIGLRGAIRLP SFKVKRKEPPDTTSSGDQKRLRPSTSVDEEDEESERERDRDMADTPCELAKRDPKGVGVR RRPARPLELDSGGEEDEKESLSASSSSSASSSSGSSTTSPSSSASDKEEEQESTEEEEEA EEEEEEEVPRSQLSSSSTSSTSDKDDDDDDSDDRDESENDDEDTALSEASEKDEGDSDEE ETVSIVTSKAEATSSSESSESSEFESSSESSPSSSEDEEEVVAREEEEEEEEEEMVAEES MASAGPEDFEQDGEEAALAPGAPAVDSLGMEEEVDIETEAVAPEERPSMLDEPPLPVGVE EPADSREPPEEPGLSQEGAMLLSPEPPAKEVEARPPLSPERAPEHDLEVEPEPPMMLPLP LQPPLPPPRPPRPPSPPPEPETTDASHPSVPPEPLAEDHPPHTPGLCGSLAKSQSTETVP ATPGGEPPLSGGSSGLSLSSPQVPGSPFSYPAPSPSLSSGGLPRTPGRDFSFTPTFSEPS GPLLLPVCPLPTGRRDERSGPLASPVLLETGLPLPLPLPLPLPLALPAVLRAQARAPTPL PPLLPAPLASCPPPMKRKPGRPRRSPPSMLSLDGPLVRPPAGAALGRELLLLPGQPQTPV FPSTHDPRTVTLDFRNAGIPAPPPPLPPQPPPPPPPPPVEPTKLPFKELDNQWPSEAIPP GPRGRDEVTEEYMELAKSRGPWRRPPKKRHEDLVPPAGSPELSPPQPLFRPRSEFEEMTI LYDIWNGGIDEEDIRFLCVTYERLLQQDNGMDWLNDTLWVYHPSTSLSSAKKKKRDDGIR EHVTGCARSEGFYTIDKKDKLRYLNSSRASTDEPPADTQGMSIPAQPHASTRAGSERRSE QRRLLSSFTGSCDSDLLKFNQLKFRKKKLKFCKSHIHDWGLFAMEPIAADEMVIEYVGQN IRQVIADMREKRYEDEGIGSSYMFRVDHDTIIDATKCGNFARFINHSCNPNCYAKVITVE SQKKIVIYSKQHINVNEEITYDYKFPIEDVKIPCLCGSENCRGTLN
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| Sequence length |
1966 |
| Interactions |
View interactions |
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Epilepsy |
Likely pathogenic |
rs1592977444 |
RCV000853296 |
| Intellectual developmental disorder with seizures and language delay |
Likely pathogenic; Pathogenic |
rs2137544259, rs2137594297, rs2137553018, rs2137589783, rs2137552415, rs1419959359, rs752096360, rs2137544133, rs2137578021, rs2137588997, rs2500183969, rs2500233324, rs1244562984, rs2500260789, rs2500221145, rs2500165101, rs777278685, rs2500260535, rs12814488, rs2500200910, rs2500232999, rs2500253573, rs2500168661, rs2500215282, rs2500200230, rs2500251718, rs2500244532, rs755420944, rs2500212165, rs2500238632, rs2500238557, rs1877023557, rs2137572221, rs1876334453, rs1876610129, rs1877026127, rs1876920040, rs1876922399, rs1876191880 View all (24 more) |
RCV001374426 RCV003224569 RCV001591648 RCV001775333 RCV001780001 RCV001797899 RCV001806453 RCV002226585 RCV002251157 RCV003149020 RCV002284006 RCV002306238 RCV002463412 RCV002465393 RCV002466366 RCV002468855 RCV002795949 RCV003388163 RCV003140586 RCV003137337 RCV003131428 RCV003133985 RCV003222495 RCV003222496 RCV003222498 RCV003233390 RCV003233424 RCV005930811 RCV003314524 RCV003387633 RCV003993640 RCV004577076 RCV001255152 RCV001255153 RCV001255154 RCV001255155 RCV001255156 RCV001255193 RCV001255194 RCV001263425 |
| Neoplasm |
Pathogenic |
rs777278685 |
RCV004673829 |
| Neurodevelopmental delay |
Likely pathogenic; Pathogenic |
rs2137588997 |
RCV002274370 |
| Neurodevelopmental disorder |
Likely pathogenic; Pathogenic |
rs2137589126, rs1877025777, rs777278685 |
RCV001374993 RCV001374897 RCV003389088 |
| See cases |
Pathogenic |
rs2500169389 |
RCV002287749 |
| SETD1B-associated disorder |
Likely pathogenic; Pathogenic |
rs1877026008 |
RCV001254165 |
| SETD1B-related disorder |
Likely pathogenic; Pathogenic |
rs2500222599, rs2500213316 |
RCV003391291 RCV003397448 |
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