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
Gene location (Human)
Chr.	Chromosome 8 (human)[1]
End	38,382,272 bp[1]
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)[2]
End	26,209,694 bp[2]
RNA expression pattern
	Top expressed in
	pylorus; ; ganglionic eminence; ; cardia; ; entorhinal cortex; ; caput epididymis; ; sural nerve; ; nipple; ; lactiferous duct; ; Brodmann area 23; ; middle temporal gyrus;
	Top expressed in
	hand; ; lacrimal gland; ; superior cervical ganglion; ; seminal vesicula; ; body of femur; ; parotid gland; ; otolith organ; ; utricle; ; spleen; ; blood;
	More reference expression data
	; ;
	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
	54904
	234135
	ENSG00000147548
	ENSMUSG00000054823
	Q9BZ95
	Q6P2L6
	NM_017778; NM_023034
	NM_001001735; NM_001081269; NM_001308481; NM_001308482
	NP_060248; NP_075447
	NP_001001735; NP_001074738; NP_001295410; NP_001295411
	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

GRCh38: Ensembl release 89: ENSG00000147548 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000054823 - 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.
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.
"Entrez Gene: WHSC1L1 Wolf-Hirschhorn syndrome candidate 1-like 1".
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.
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.

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.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000147548 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid10802047-5] 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.

[entrez-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.

WHSC1L1

References

Further reading