histone-lysine N-methyltransferase NSD3 (nuclear SET domain-containing protein 3, WHSC1-like protein 1, Wolf-Hirschhorn syndrome candidate 1-like protein 1, Whistle, WHSC1-like 1 isoform 9 with methyltransferase activity to lysine, WHSC1L1, NSD3, DC28)

Function

• histone methyltransferase
• preferentially methylates Lys-4 & Lys-27 of histone H3
  • H3 Lys-4 methylation represents a specific tag for epigenetic transcriptional activation
  • histone H3 Lys-27 methylation is a mark for epigenetic transcriptional repression

S-adenosyl-L-methionine + histone L-lysine  <-->
      S-adenosyl-L-homocysteine + histone 6-N-methyl-L-lysine

Structure

• belongs to the histone-lysine methyltransferase family, SET2 subfamily
• contains 1 AWS domain
• contains 4 PHD-type zinc fingers
• contains 1 post-SET domain
• contains 2 PWWP domains
• contains 1 SET domain

Compartment

nucleus

Alternative splicing

named isoforms=4

Expression

• expressed in brain, heart & skeletal muscle > liver, lung

Pathology

• WHSC1L1 may be amplified or overexpressed in non small cell lung carcinomas (NSCLC)
• chromosomal translocation t(8;11)(p11.2;p15) involving WHSC1L1 with NUP98 found in childhood acute myeloid leukemia

More general terms

• histone N-methyltransferase
• zinc finger protein
• SET domain-containing protein

Database

• OMIM: https://mirror.omim.org/entry/607083
• UniProt: http://www.uniprot.org/uniprot/Q9BZ95.html