WHSC1L1

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; OMA:NSD3 - orthologs
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 26,091,617 bp [2] End 26,209,694 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pylorus epithelium of colon ganglionic eminence cardia ventricular zone entorhinal cortex caput epididymis sural nerve nipple lactiferous duct Top expressed in hand lacrimal gland superior cervical ganglion seminal vesicula otic vesicle granulocyte human fetus body of femur parotid gland otolith organ More reference expression data BioGPS More reference expression data
Gene ontology Molecular function methyltransferase activity transferase activity protein binding metal ion binding histone-lysine N-methyltransferase activity transcription coactivator activity histone methyltransferase activity (H3-K36 specific) Cellular component 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: 26.09 – 26.21 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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. Bibcode:2014PLoSO...998293C. 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. Bibcode:2002PNAS...9916899M. 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. Bibcode:2005PNAS..102.9625T. 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.