NSD3 gene

nuclear receptor binding SET domain protein 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene is related to the Wolf-Hirschhorn syndrome candidate-1 gene and encodes a protein with PWWP (proline-tryptophan-tryptophan-proline) domains. This protein methylates histone H3 at lysine residues 4 and 27, which represses gene transcription. Two alternatively spliced variants have been described. [provided by RefSeq, May 2015]

From UniProt:

Histone methyltransferase. Preferentially methylates 'Lys-4' and 'Lys-27' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation, while 'Lys-27' is a mark for transcriptional repression.

From UniProt:

A chromosomal aberration involving WHSC1L1 is found in childhood acute myeloid leukemia. Translocation t(8;11)(p11.2;p15) with NUP98.

Defects in WHSC1L1 may be involved in non small cell lung carcinomas (NSCLC). Amplified or overexpressed in NSCLC.

Cytogenetic Location: 8p11.23, which is the short (p) arm of chromosome 8 at position 11.23

Molecular Location: base pairs 38,275,042 to 38,382,272 on chromosome 8 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 8p11.23, which is the short (p) arm of chromosome 8 at position 11.23
  • KMT3F
  • KMT3G
  • pp14328
  • WHISTLE
  • WHSC1L1