Set domain containing 1b

SETD1B
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3UVO, 4ES0
Identifiers
Aliases	SETD1B, KMT2G, Set1B, SET domain containing 1B, SET domain containing 1B, histone lysine methyltransferase, IDDSELD
External IDs	OMIM: 611055; MGI: 2652820; HomoloGene: 137311; GeneCards: SETD1B; OMA:SETD1B - orthologs
Gene location (Human)
Chr.	Chromosome 12 (human)[1]
End	121,832,656 bp[1]
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)[2]
End	123,306,692 bp[2]
RNA expression pattern
	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
	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
	23067
	208043
	ENSG00000139718
	ENSMUSG00000038384
	Q9UPS6
	Q8CFT2
	NM_015048; NM_001353345
	NM_001040398; NM_177581
	NP_001340274
	NP_001035488
	Wikidata
View/Edit Human	View/Edit Mouse

SET domain containing 1B is a protein that in humans is encoded by the SETD1B gene. [5]

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].

References

^ a b c GRCh38: Ensembl release 89: ENSG00000139718 – Ensembl, May 2017
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000038384 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: SET domain containing 1B". Retrieved 2018-01-13.

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, Yoo NJ, Lee SH (2014). "Frameshift mutation of a histone methylation-related gene SETD1B and its regional heterogeneity in gastric and colorectal cancers with high microsatellite instability". Hum. Pathol. 45 (8): 1674–81. doi:10.1016/j.humpath.2014.04.013. PMID 24925220.
Labonne JD, Lee KH, Iwase S, Kong IK, Diamond MP, Layman LC, Kim CH, Kim HG (2016). "An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability". Hum. Genet. 135 (7): 757–71. doi:10.1007/s00439-016-1668-4. PMID 27106595. S2CID 3760488.
Kranz, Andrea; Anastassiadis, Konstantinos (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. ISSN 1874-9399. PMID 32389824. S2CID 218585660.
Brici, David; Zhang, Qinyu; Reinhardt, Susanne; Dahl, Andreas; Hartmann, Hella; Schmidt, Kerstin; Goveas, Neha; Huang, Jiahao; Gahurova, Lenka; Kelsey, Gavin; Anastassiadis, Konstantinos; Stewart, A. Francis; Kranz, Andrea (2017). "The histone 3 lysine 4 methyltransferase Setd1b is a maternal effect gene required for the oogenic gene expression program". Development. 144 (14): 2606–2617. doi:10.1242/dev.143347. ISSN 1477-9129. PMID 28619824.

This article on a gene on human chromosome 12 is a stub. You can help Wikipedia by adding missing information.

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

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000139718 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000038384 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: SET domain containing 1B". Retrieved 2018-01-13.

Function

References

Further reading