NSD3 (nuclear receptor binding SET domain protein 3)
2005-03-01 Jean-Loup Huret AffiliationGenetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France
Identity
HGNC
LOCATION
8p11.23
LOCUSID
ALIAS
KMT3F,KMT3G,WHISTLE,WHSC1L1,pp14328
FUSION GENES
DNA/RNA
Description
The gene spans 127 kb on minus strand.
Transcription
2 major transcripts: a short transcript ending after an alternative exon 10b (3995 bp), and a long form from exon 1 to 24 (5428 bp).
Proteins
Description
The long transcript encodes a 1437 aminonacids protein (162 kDa) containing from N-term to C-term: a PWWP (proline-tryptophan-tryptophan-proline) domain, 4 PHD (plant-home domain)- type zinc finger motifs, a second PWWP domain, a SET associated cystein rich domain (SAC), a SET domain, a fifth PHD,and a Cys-His rich domain. The short transcript encodes a 645 amino acids protein (73 kDa) containing only the N-term t PWWP domain.
Expression
wide.
Localisation
putative nuclear location.
Function
may have a regulatory role.
Homology
NSD1, WHSC1/NSD2 .
Mutations
Somatic
a hybrid gene involving WHSC1L1/NSD3 was found in a rare leukemia subtype (see below); amplification of a region containing WHSC1L1/NSD3 was found in a subset of breast cancers (but it remains to be determined which gene, within an amplicon, is the critical gene).
Implicated in
Entity name
Prognosis
yet unknown: only 1 case with a proven hybrid gene 5 NUP98 - 3 NSD3; 2 other possible cases, but other genes may also be involved.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 11374904 | 2001 | NSD3, a new SET domain-containing gene, maps to 8p12 and is amplified in human breast cancer cell lines. | Angrand PO et al |
| 11986249 | 2002 | NUP98 is fused to the NSD3 gene in acute myeloid leukemia associated with t(8;11)(p11.2;p15). | Rosati R et al |
| 11549311 | 2001 | WHSC1L1, on human chromosome 8p11.2, closely resembles WHSC1 and maps to a duplicated region shared with 4p16.3. | Stec I et al |
Other Information
Locus ID:
NCBI: 54904
MIM: 607083
HGNC: 12767
Ensembl: ENSG00000147548
Variants:
dbSNP: 54904
ClinVar: 54904
TCGA: ENSG00000147548
COSMIC: NSD3
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35532818 | 2022 | The role of NSD1, NSD2, and NSD3 histone methyltransferases in solid tumors. | 10 |
| 35532818 | 2022 | The role of NSD1, NSD2, and NSD3 histone methyltransferases in solid tumors. | 10 |
| 32967925 | 2021 | NSD3-Induced Methylation of H3K36 Activates NOTCH Signaling to Drive Breast Tumor Initiation and Metastatic Progression. | 23 |
| 33361816 | 2021 | Molecular basis of nucleosomal H3K36 methylation by NSD methyltransferases. | 51 |
| 33536620 | 2021 | Elevated NSD3 histone methylation activity drives squamous cell lung cancer. | 50 |
| 33592170 | 2021 | A common binding motif in the ET domain of BRD3 forms polymorphic structural interfaces with host and viral proteins. | 12 |
| 34083510 | 2021 | Targeting H3K36 methyltransferases NSDs: a promising strategy for tumor targeted therapy. | 2 |
| 34271259 | 2021 | Histone and DNA binding ability studies of the NSD subfamily of PWWP domains. | 4 |
| 34615858 | 2021 | Elevated expression of nuclear receptor-binding SET domain 3 promotes pancreatic cancer cell growth. | 6 |
| 32967925 | 2021 | NSD3-Induced Methylation of H3K36 Activates NOTCH Signaling to Drive Breast Tumor Initiation and Metastatic Progression. | 23 |
| 33361816 | 2021 | Molecular basis of nucleosomal H3K36 methylation by NSD methyltransferases. | 51 |
| 33536620 | 2021 | Elevated NSD3 histone methylation activity drives squamous cell lung cancer. | 50 |
| 33592170 | 2021 | A common binding motif in the ET domain of BRD3 forms polymorphic structural interfaces with host and viral proteins. | 12 |
| 34083510 | 2021 | Targeting H3K36 methyltransferases NSDs: a promising strategy for tumor targeted therapy. | 2 |
| 34271259 | 2021 | Histone and DNA binding ability studies of the NSD subfamily of PWWP domains. | 4 |
Citation
Jean-Loup Huret
NSD3 (nuclear receptor binding SET domain protein 3)
Atlas Genet Cytogenet Oncol Haematol. 2005-03-01
Online version: http://atlasgeneticsoncology.org/gene/42810/nsd3-(nuclear-receptor-binding-set-domain-protein-3)
