NSD3 (nuclear receptor binding SET domain protein 3)

2005-03-01 Jean-Loup Huret Affiliation

Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC

NSD3

LOCATION

8p11.23

LOCUSID

54904

ALIAS

KMT3F,KMT3G,WHISTLE,WHSC1L1,pp14328

FUSION GENES

Show Gene Fusions

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

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.

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

Gene ID	Transcript ID	Uniprot
ENSG00000147548	ENST00000316985	Q9BZ95
ENSG00000147548	ENST00000317025	Q9BZ95
ENSG00000147548	ENST00000433384	Q9BZ95
ENSG00000147548	ENST00000527502	Q9BZ95
ENSG00000147548	ENST00000528627	H0YE68
ENSG00000147548	ENST00000529223	E9PKA2
ENSG00000147548	ENST00000534155	E9PQ95
ENSG00000147548	ENST00000534539	E9PKL3

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Lysine degradation	KEGG	ko00310
Lysine degradation	KEGG	hsa00310
Chromatin organization	REACTOME	R-HSA-4839726
Chromatin modifying enzymes	REACTOME	R-HSA-3247509
PKMTs methylate histone lysines	REACTOME	R-HSA-3214841

Protein levels (Protein atlas)

Not detected

Low

Medium

High

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/whsc1l1nsd3id42810ch8p11