WHSC1L1

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

NSD3
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesNSD3, pp14328, WHSC1L1, WHISTLE, Wolf-Hirschhorn syndrome candidate 1-like 1, nuclear receptor binding SET domain protein 3, KMT3G, KMT3F
External IDsOMIM: 607083 MGI: 2142581 HomoloGene: 56960 GeneCards: NSD3
Gene location (Human)
Chr.Chromosome 8 (human)[1]
Band8p11.23Start38,269,704 bp[1]
End38,382,272 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
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 MbChr 8: 25.6 – 25.72 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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


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