NSD3 (nuclear receptor binding SET domain protein 3)

2005-03-01   Jean-Loup Huret 

Genetics, 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

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
t(8;11)(p11;p15) Acute non lymphocytic leukemia with WHSC1L1/NSD3 - NUP98 .
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.

Bibliography

Pubmed IDLast YearTitleAuthors
113749042001NSD3, a new SET domain-containing gene, maps to 8p12 and is amplified in human breast cancer cell lines.Angrand PO et al
119862492002NUP98 is fused to the NSD3 gene in acute myeloid leukemia associated with t(8;11)(p11.2;p15).Rosati R et al
115493112001WHSC1L1, 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

Gene IDTranscript IDUniprot
ENSG00000147548ENST00000316985Q9BZ95
ENSG00000147548ENST00000317025Q9BZ95
ENSG00000147548ENST00000433384Q9BZ95
ENSG00000147548ENST00000527502Q9BZ95
ENSG00000147548ENST00000528627H0YE68
ENSG00000147548ENST00000529223E9PKA2
ENSG00000147548ENST00000534155E9PQ95
ENSG00000147548ENST00000534539E9PKL3

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
Lysine degradationKEGGko00310
Lysine degradationKEGGhsa00310
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
PKMTs methylate histone lysinesREACTOMER-HSA-3214841

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
215554542011The Brd4 extraterminal domain confers transcription activation independent of pTEFb by recruiting multiple proteins, including NSD3.190
248758582014NSD3-NUT fusion oncoprotein in NUT midline carcinoma: implications for a novel oncogenic mechanism.50
266264812015NSD3-Short Is an Adaptor Protein that Couples BRD4 to the CHD8 Chromatin Remodeler.47
209404042010Transforming properties of 8p11-12 amplified genes in human breast cancer.40
230116372013The histone methyltransferase Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1) is involved in human carcinogenesis.28
259424512015The NSD family of protein methyltransferases in human cancer.28
232696742013The methyltransferase NSD3 has chromatin-binding motifs, PHD5-C5HCH, that are distinct from other NSD (nuclear receptor SET domain) family members in their histone H3 recognition.22
205997552010The NSD3L histone methyltransferase regulates cell cycle and cell invasion in breast cancer cells.17
254946382014In vitro histone lysine methylation by NSD1, NSD2/MMSET/WHSC1 and NSD3/WHSC1L.17
270055592016Amplification of WHSC1L1 regulates expression and estrogen-independent activation of ERα in SUM-44 breast cancer cells and is associated with ERα over-expression in breast cancer.14

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/whsc1l1nsd3id42810ch8p11