Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23067
Gene name Gene Name - the full gene name approved by the HGNC.
SET domain containing 1B, histone lysine methyltransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SETD1B
Synonyms (NCBI Gene) Gene synonyms aliases
IDDSELD, KMT2G, Set1B
Disease Acronyms (UniProt) Disease acronyms from UniProt database
IDDSELD
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.31
Summary Summary of gene provided in NCBI Entrez Gene.
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]
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1592977444 AG>- Likely-pathogenic Coding sequence variant, frameshift variant
rs1592988488 ->C Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019516 hsa-miR-151a-5p Sequencing 20371350
MIRT025865 hsa-miR-7-5p Sequencing 20371350
MIRT027194 hsa-miR-103a-3p Sequencing 20371350
MIRT028695 hsa-miR-27a-3p Sequencing 20371350
MIRT031924 hsa-miR-16-5p Sequencing 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding IEA
GO:0005515 Function Protein binding IPI 17998332, 22266653, 22665483
GO:0005654 Component Nucleoplasm IDA
GO:0005654 Component Nucleoplasm TAS
GO:0005694 Component Chromosome IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611055 29187 ENSG00000139718
Protein
UniProt ID 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
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
Sequence
MENSHPPHHHHQQPPPQPGPSGERRNHHWRSYKLMIDPALKKGHHKLYRYDGQHFSLAMS
SNRPVEIVEDPRVVGIWTKNKELELSVPKFKIDEFYVGPVPPKQVTFAKLNDNIRENFLR
DMCKKYGEVEEVEILYNPKTKKHLGIAKVVFATVRGAKDAVQHLHSTSVMGNIIH
VELDT
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
QRRLLSSFTGSCDSDLLKFNQ
LKFRKKKLKFCKSHIHDWGLFAMEPIAADEMVIEYVGQN
IRQVIADMREKRYEDEGIGSSYMFRVDHDTIIDATKCGNFARFINHSCNPNCYAKVITVE
SQKKIVIYSKQHINVNEEITYDYK
FPIEDVKIPCLCGSENCRGTLN
Sequence length 1966
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Lysine degradation
Metabolic pathways
  PKMTs methylate histone lysines
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537 30525989
Associations from Text Mining
Disease Name Relationship Type References
Alcohol Related Disorders Associate 34345025
Arthritis Rheumatoid Associate 35479077
Autistic Disorder Associate 34345025
Carcinoma Hepatocellular Associate 30628696
Colorectal Neoplasms Associate 32094334
Developmental Disabilities Associate 34345025, 35183220
Epilepsy Associate 34345025
GATA2 Deficiency Associate 32321919
Glioblastoma Associate 37974198
Immunoglobulin G4 Related Disease Associate 31685013