WHSC1L1

Histone-lysine N-methyltransferase NSD3 is an enzyme that in humans is encoded by the WHSC1L1 gene.[5][6]

NSD3
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2DAQ, 4GND, 4GNE, 4GNF, 4GNG, 4RXJ, 4YZ8, 2ND1, 2NCZ
Identifiers
Aliases	NSD3, pp14328, WHSC1L1, WHISTLE, Wolf-Hirschhorn syndrome candidate 1-like 1, nuclear receptor binding SET domain protein 3, KMT3G, KMT3F
External IDs	OMIM: 607083 MGI: 2142581 HomoloGene: 56960 GeneCards: NSD3
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8p11.23 Start 38,269,704 bp[1] End 38,382,272 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8|8 A2 Start 25,601,601 bp[2] End 25,719,667 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • methyltransferase activity • transferase activity • GO:0001948 protein binding • metal ion binding • histone-lysine N-methyltransferase activity • GO:0001105 transcription coactivator activity • histone methyltransferase activity (H3-K36 specific) Cellular component • cell nucleus • nucleoplasm • chromosome • chromatin Biological process • histone methylation • methylation • regulation of transcription, DNA-templated • transcription, DNA-templated • histone lysine methylation • chromatin organization • positive regulation of transcription, DNA-templated • positive regulation of histone H3-K36 trimethylation • histone H3-K36 methylation Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	54904	234135
Ensembl	ENSG00000147548	ENSMUSG00000054823
UniProt	Q9BZ95	Q6P2L6
RefSeq (mRNA)	NM_017778 NM_023034	NM_001001735 NM_001081269 NM_001308481 NM_001308482
RefSeq (protein)	NP_060248 NP_075447	NP_001001735 NP_001074738 NP_001295410 NP_001295411
Location (UCSC)	Chr 8: 38.27 – 38.38 Mb	Chr 8: 25.6 – 25.72 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

This gene is related to the Wolf-Hirschhorn syndrome candidate-1 gene and encodes a protein with PWWP (proline-tryptophan-tryptophan-proline) domains. The function of the protein has not been determined. Two alternatively spliced variants have been described.[6]

The WHSC1L1 gene is amplified in several cancers, including lung cancer and head and neck cancer, and may play a role in carcinogenesis.[7][8]

References

1. GRCh38: Ensembl release 89: ENSG00000147548 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000054823 - 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.
5. Stec I, Nagl SB, van Ommen GJ, den Dunnen JT (Jun 2000). "The PWWP domain: a potential protein-protein interaction domain in nuclear proteins influencing differentiation?". FEBS Lett. 473 (1): 1–5. doi:10.1016/S0014-5793(00)01449-6. PMID 10802047. S2CID 26290698.
6. "Entrez Gene: WHSC1L1 Wolf-Hirschhorn syndrome candidate 1-like 1".
7. Kang, D; Cho, HS; Toyokawa, G; Kogure, M; Yamane, Y; Iwai, Y; Hayami, S; Tsunoda, T; Field, HI; Matsuda, K; Neal, DE; Ponder, BA; Maehara, Y; Nakamura, Y; Hamamoto, R (Feb 2013). "The histone methyltransferase Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1) is involved in human carcinogenesis". Genes, Chromosomes & Cancer. 52 (2): 126–39. doi:10.1002/gcc.22012. PMID 23011637. S2CID 41047322.
8. Chen, Y; McGee, J; Chen, X; Doman, TN; Gong, X; Zhang, Y; Hamm, N; Ma, X; Higgs, RE; Bhagwat, SV; Buchanan, S; Peng, SB; Staschke, KA; Yadav, V; Yue, Y; Kouros-Mehr, Hosein (2014). "Identification of Druggable Cancer Driver Genes Amplified across TCGA Datasets". PLOS ONE. 9 (5): e98293. doi:10.1371/journal.pone.0098293. PMC 4038530. PMID 24874471.

Further reading

• Angrand PO, Apiou F, Stewart AF, et al. (2001). "NSD3, a new SET domain-containing gene, maps to 8p12 and is amplified in human breast cancer cell lines". Genomics. 74 (1): 79–88. doi:10.1006/geno.2001.6524. PMID 11374904.
• Stec I, van Ommen GJ, den Dunnen JT (2001). "WHSC1L1, on human chromosome 8p11.2, closely resembles WHSC1 and maps to a duplicated region shared with 4p16.3". Genomics. 76 (1–3): 5–8. doi:10.1006/geno.2001.6581. PMID 11549311.
• Rosati R, La Starza R, Veronese A, et al. (2002). "NUP98 is fused to the NSD3 gene in acute myeloid leukemia associated with t(8;11)(p11.2;p15)". Blood. 99 (10): 3857–60. doi:10.1182/blood.V99.10.3857. PMID 11986249.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Tonon G, Wong KK, Maulik G, et al. (2005). "High-resolution genomic profiles of human lung cancer". Proc. Natl. Acad. Sci. U.S.A. 102 (27): 9625–30. doi:10.1073/pnas.0504126102. PMC 1160520. PMID 15983384.
• Kim SM, Kee HJ, Eom GH, et al. (2006). "Characterization of a novel WHSC1-associated SET domain protein with H3K4 and H3K27 methyltransferase activity". Biochem. Biophys. Res. Commun. 345 (1): 318–23. doi:10.1016/j.bbrc.2006.04.095. PMID 16682010.