Contents

Search

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: 1) histone methyltransferase 2) 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

General

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

Properties

SIZE: MW = 162 kD entity length = 1437 aa COMPARTMENT: cell nucleus MOTIF: PWWP 1 {270-333} Zn finger PHD-type NAME: Zn finger PHD-type SITE: 701-748 EFFECTOR-BOUND: Zn+2 Zn finger PHD-type NAME: Zn finger PHD-type SITE: 749-805 EFFECTOR-BOUND: Zn+2 Zn finger PHD-type NAME: Zn finger PHD-type SITE: 862-955 EFFECTOR-BOUND: Zn+2 PWWP 2 {960-1022} coiled coil {1033-1069} AWS {1093-1143} SET domain {1144-1266} post-SET domain {1269-1285} Zn finger PHD-type NAME: Zn finger PHD-type SITE: 1321-1368 EFFECTOR-BOUND: Zn+2

Database Correlations

OMIM 607083 UniProt Q9BZ95 PFAM correlations ENZYME 2.1.1.43

References

  1. UniProt :accession Q9BZ95
  2. Atlas of Genetics and Cytogenetics in Oncology and Haematology http://atlasgeneticsoncology.org/Genes/WHSC1L1NSD3ID42810ch8p11.htm