SET domain containing 1B

SETD1B
Identifiers
Aliases	SETD1B, KMT2G, Set1B, SET domain containing 1B, SET domain containing 1B, histone lysine methyltransferase, IDDSELD
External IDs	OMIM: 611055; MGI: 2652820; GeneCards: SETD1B
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3UVO, 4ES0
Enzyme activity EC # BRENDA ExPASy KEGG MetaCyc 2.1.1.364 ↗ ↗ ↗ ↗
Gene location (Human) Chr. Chromosome 12 (human) Band 12q24.31 Start 121,804,009 bp End 121,832,656 bp
Gene location (Mouse) Chr. Chromosome 5 (mouse) Band 5|5 F Start 123,280,256 bp End 123,306,692 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in hair follicle parietal pleura cardia visceral pleura urethra nipple saphenous vein germinal epithelium seminal vesicula pylorus Top expressed in hand otolith organ utricle mesenteric lymph nodes ascending aorta cervix blood granulocyte Gonadal ridge aortic valve More reference expression data BioGPS n/a
Gene ontology Molecular function nucleic acid binding methyltransferase activity transferase activity protein binding histone methyltransferase activity (H3-K4 specific) RNA binding histone-lysine N-methyltransferase activity Cellular component histone methyltransferase complex nuclear speck nucleus chromosome nucleoplasm cytosol Set1C/COMPASS complex Biological process methylation regulation of transcription, DNA-templated transcription, DNA-templated histone H3-K4 methylation chromatin organization Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 23067 208043 Ensembl ENSG00000139718 ENSMUSG00000038384 UniProt Q9UPS6 Q8CFT2 RefSeq (mRNA) NM_015048 NM_001353345 NM_001040398 NM_177581 RefSeq (protein) NP_001340274 NP_001035488 Location (UCSC) Chr 12: 121.8 – 121.83 Mb Chr 5: 123.28 – 123.31 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

SET domain containing 1B is a protein that in humans is encoded by the SETD1B gene.

Function

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].

Further reading

• Lee JH, Skalnik DG (2012). "Rbm15-Mkl1 interacts with the Setd1b histone H3-Lys4 methyltransferase via a SPOC domain that is required for cytokine-independent proliferation". PLOS ONE. 7 (8) e42965. Bibcode:2012PLoSO...742965L. doi:10.1371/journal.pone.0042965. PMC 3424240. PMID 22927943.
• Choi YJ, Oh HR, Choi MR, Gwak M, An CH, Chung YJ, et al. (2014). "Frameshift mutation of a histone methylation-related gene SETD1B and its regional heterogeneity in gastric and colorectal cancers with high microsatellite instability". Human Pathology. 45 (8): 1674–1681. doi:10.1016/j.humpath.2014.04.013. PMID 24925220.
• Labonne JD, Lee KH, Iwase S, Kong IK, Diamond MP, Layman LC, et al. (2016). "An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability". Human Genetics. 135 (7): 757–771. doi:10.1007/s00439-016-1668-4. PMID 27106595. S2CID 3760488.
• Kranz A, Anastassiadis K (August 2020). "The role of SETD1A and SETD1B in development and disease". Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms. 1863 (8) 194578. doi:10.1016/j.bbagrm.2020.194578. PMID 32389824. S2CID 218585660.
• Brici D, Zhang Q, Reinhardt S, Dahl A, Hartmann H, Schmidt K, et al. (July 2017). "Setd1b, encoding a histone 3 lysine 4 methyltransferase, is a maternal effect gene required for the oogenic gene expression program". Development. 144 (14). Cambridge, England: 2606–2617. doi:10.1242/dev.143347. PMID 28619824.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.