NSD1 (Nuclear receptor-binding, su (var), enhancer-of-zeste and trithorax domain-containing protein 1
2002-03-01 Lyndal Kearney AffiliationLeukaemia Research Fund Centre, Institute of Cancer Research, Chester Beatty Laboratories, 237 Fulham Road, London SW3 6JB, UK
Identity
HGNC
LOCATION
5q35.2
LOCUSID
ALIAS
ARA267,KMT3B,SOTOS,SOTOS1,STO
FUSION GENES
DNA/RNA
Description
At least 23 exons. cDNA is 8552 bp, 8088 bp open reading frame
Transcription
Two transcripts: 9.0 and 10 kb
Proteins
Description
2696 amino acids. Murine Nsd1 is a nuclear protein containing SET, proline-tryptophan-tryptophan-proline (PWWP) and plant homedomain protein (PHD) finger domains. The protein has two distinct nuclear receptor (NR)-interaction domains (NID-L, NID+L). Human NSD1 shows 86% identity to the murine Nsd1 at the nucleotide level and 83% at the amino acid level, retaining the nuclear interaction domains (NID) as well as the SET/SAC and PHD finger domains.
Expression
Widely expressed
Function
Features of a basic transcription factor, also of a bifunctional transcriptional regulator, (similar to murine Nsd1)
Homology
NSD2: (Wolf-Hirschhorn syndrome critical region on 4p); NSD3: expressed in tumour cell lines
Implicated in
Entity name
t(5;11)(q35;p15.5)/ acute non lymphoblastic leukemia (AML)
Disease
De novo childhood AML
Prognosis
Only 5 cases reported. All had poor response to treatment/short survival
Cytogenetics
Cryptic: associated with del(5q) (sole cytogenetic abnormality) or a normal karyotype
Hybrid gene
5 NUP98- 3 NSD1 ; NSD1-NUP98 also present in all cases tested
Fusion protein
NH2 NUP98- COOH NSD1: Fuses the FXFG portion of NUP98 to the SET, SAC and PHD finger domains of NSD1. NSD1-NUP98: Fuses the RNA-binding domain of NSD1 to the NID domain NUP98
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 |
| 11895789 | 2002 | A cryptic t(5;11)(q35;p15.5) in 2 children with acute myeloid leukemia with apparently normal karyotypes, identified by a multiplex fluorescence in situ hybridization telomere assay. | Brown J et al |
| 9628876 | 1998 | Two distinct nuclear receptor interaction domains in NSD1, a novel SET protein that exhibits characteristics of both corepressors and coactivators. | Huang N et al |
| 11493482 | 2001 | A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia. | Jaju RJ et al |
| 10397745 | 1999 | A new recurrent translocation, t(5;11)(q35;p15.5), associated with del(5q) in childhood acute myeloid leukemia. The UK Cancer Cytogenetics Group (UKCCG). | Jaju RJ et al |
| 11733144 | 2001 | Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene. | Kurotaki N et al |
| 11681408 | 2001 | NUP98 gene fusions in hematologic malignancies. | Lam DH et al |
| 9618163 | 1998 | WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma. | Stec I et al |
Other Information
Locus ID:
NCBI: 64324
MIM: 606681
HGNC: 14234
Ensembl: ENSG00000165671
Variants:
dbSNP: 64324
ClinVar: 64324
TCGA: ENSG00000165671
COSMIC: NSD1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37989294 | 2024 | Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature. | 0 |
| 38012390 | 2024 | H3K36 methyltransferase NSD1 protects against osteoarthritis through regulating chondrocyte differentiation and cartilage homeostasis. | 1 |
| 38684994 | 2024 | Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome. | 0 |
| 37989294 | 2024 | Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature. | 0 |
| 38012390 | 2024 | H3K36 methyltransferase NSD1 protects against osteoarthritis through regulating chondrocyte differentiation and cartilage homeostasis. | 1 |
| 38684994 | 2024 | Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome. | 0 |
| 36261088 | 2023 | Identification of alternative transcripts of NSD1 gene in Sotos Syndrome patients and healthy subjects. | 3 |
| 36833222 | 2023 | Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome. | 3 |
| 37147424 | 2023 | NUP98::Nsd1 and FLT3-ITD collaborate to generate acute myeloid leukemia. | 0 |
| 37311054 | 2023 | Targeting KDM2A Enhances T-cell Infiltration in NSD1-Deficient Head and Neck Squamous Cell Carcinoma. | 1 |
| 36261088 | 2023 | Identification of alternative transcripts of NSD1 gene in Sotos Syndrome patients and healthy subjects. | 3 |
| 36833222 | 2023 | Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome. | 3 |
| 37147424 | 2023 | NUP98::Nsd1 and FLT3-ITD collaborate to generate acute myeloid leukemia. | 0 |
| 37311054 | 2023 | Targeting KDM2A Enhances T-cell Infiltration in NSD1-Deficient Head and Neck Squamous Cell Carcinoma. | 1 |
| 35094088 | 2022 | NSD1 mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome. | 7 |
Citation
Lyndal Kearney
NSD1 (Nuclear receptor-binding, su (var), enhancer-of-zeste and trithorax domain-containing protein 1
Atlas Genet Cytogenet Oncol Haematol. 2002-03-01
Online version: http://atlasgeneticsoncology.org/gene/356
