NUTM1 (nuclear protein in testis)
2007-02-01 Anna Collin AffiliationDepartment of Clinical Genetics, University Hospital, SE-221 85 Lund, Sweden
Identity
HGNC
LOCATION
15q14
LOCUSID
ALIAS
C15orf55,FAM22H,NUT
FUSION GENES
DNA/RNA
Description
The gene consists of 7 exons that span approximately 12 kb of genomic DNA in the centromere-to-telomere orientation. The translation initiation codon and the stop codon are predicted to exon 1 and exon 7, respectively.
Transcription
The corresponding "wildtype" mRNA transcript is 3.6 kb.
Proteins
Description
The open reading frame is predicted to encode an 1127 amino acid protein with an estimated molecular weight of 120 kDa.
Expression
Northern blot analysis has indicated that the normal expression of the NUT gene is highly restricted to the testis. No investigations have yet been made at the protein level.
Localisation
Nuclear.
Function
Unknown.
Implicated in
Entity name
Carcinoma with t(15;19)(q14;p13) translocation.
Prognosis
Carcinoma with t(15;19) translocation is invariably fatal with a rapid clinical course when located to the midline thoracic, head and neck structures. One tumor, displaying the cytogenetic and molecular cytogenetic features of carcinoma with t(15;19) translocation, but located to the iliac bone has been reported successfully cured.
It has been suggested that a critical prognostic difference exists between BRD4-NUT/t(15;19) positive tumors and tumors where NUT is rearranged but fused to an as yet unknown partner.
It has been suggested that a critical prognostic difference exists between BRD4-NUT/t(15;19) positive tumors and tumors where NUT is rearranged but fused to an as yet unknown partner.
Cytogenetics
t(15;19)(q14;p13) [reported breakpoints: t(15;19)(q11-15;p13)].
Hybrid gene
The t(15;19)(q14;p13) results in an BRD4-NUT chimeric gene where exon 10 of BRD4 is fused to exon 2 of NUT.
Fusion protein
The BRD4-NUT fusion is composed of the N-terminal of BRD4 (amino acids 1-720 out of 1372) and almost the entire protein sequence of NUT (amino acids 6-1127). The N-terminal of BRD4 includes bromodomains 1 and 2 and other, less well characterized functional domains.
Oncogenesis
It has been suggested that the oncogenic effect of the NUT-BRD4 fusion is caused not only by the abnormal regulation of NUT by BRD4 promoter elements but also by the consequent ectopic expression of NUT in non-germinal tissues.
Breakpoints
Note
The vast majority of reported breakpoints in carcinoma with t(15;19) translocation were assigned to band 19p13, the exception being the cytogenetic interpretation of a 19q13 breakpoint reported once. The reported breakpoints on chromosome 15 have varied (15q11-q15).
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 16542442 | 2006 | Midline carcinoma with t(15;19) and BRD4-NUT fusion oncogene in a 30-year-old female with response to docetaxel and radiotherapy. | Engleson J et al |
| 15483023 | 2004 | Midline carcinoma of children and young adults with NUT rearrangement. | French CA et al |
| 12543779 | 2003 | BRD4-NUT fusion oncogene: a novel mechanism in aggressive carcinoma. | French CA et al |
| 1785673 | 1991 | Intrathoracic carcinoma in an 11-year-old girl showing a translocation t(15;19). | Kees UR et al |
| 16435379 | 2007 | Successful treatment of a child with t(15;19)-positive tumor. | Mertens F et al |
Other Information
Locus ID:
NCBI: 256646
MIM: 608963
HGNC: 29919
Ensembl: ENSG00000184507
Variants:
dbSNP: 256646
ClinVar: 256646
TCGA: ENSG00000184507
COSMIC: NUTM1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000184507 | ENST00000333756 | Q86Y26 |
| ENSG00000184507 | ENST00000438749 | Q86Y26 |
| ENSG00000184507 | ENST00000537011 | Q86Y26 |
| ENSG00000184507 | ENST00000614490 | Q86Y26 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36219702 | 2023 | NUT Carcinoma in Children and Adolescents: The Expert European Standard Clinical Practice Harmonized Recommendations. | 2 |
| 36690674 | 2023 | Structural mechanism of BRD4-NUT and p300 bipartite interaction in propagating aberrant gene transcription in chromatin in NUT carcinoma. | 12 |
| 37082775 | 2023 | The expanding universe of NUTM1 fusions in pediatric cancer. | 2 |
| 38058041 | 2023 | [Primary pulmonary NUT carcinoma: a clinicopathological analysis of seven cases]. | 0 |
| 36219702 | 2023 | NUT Carcinoma in Children and Adolescents: The Expert European Standard Clinical Practice Harmonized Recommendations. | 2 |
| 36690674 | 2023 | Structural mechanism of BRD4-NUT and p300 bipartite interaction in propagating aberrant gene transcription in chromatin in NUT carcinoma. | 12 |
| 37082775 | 2023 | The expanding universe of NUTM1 fusions in pediatric cancer. | 2 |
| 38058041 | 2023 | [Primary pulmonary NUT carcinoma: a clinicopathological analysis of seven cases]. | 0 |
| 34525172 | 2022 | CIC-NUTM1 Sarcomas Affecting the Spine. | 8 |
| 35064291 | 2022 | NUT carcinoma of the parotid gland: report of two cases, one with a rare ZNF532-NUTM1 fusion. | 4 |
| 35623465 | 2022 | NUT carcinoma, an under-recognized malignancy: a clinicopathologic and molecular series of 6 cases showing a subset of patients with better prognosis and a rare ZNF532::NUTM1 fusion. | 3 |
| 35791777 | 2022 | Clinicopathologic features of an MXI1::NUTM1 fusion neoplasm; a new molecular variant of the family of NUTM1-rearranged neoplasm. | 1 |
| 34525172 | 2022 | CIC-NUTM1 Sarcomas Affecting the Spine. | 8 |
| 35064291 | 2022 | NUT carcinoma of the parotid gland: report of two cases, one with a rare ZNF532-NUTM1 fusion. | 4 |
| 35623465 | 2022 | NUT carcinoma, an under-recognized malignancy: a clinicopathologic and molecular series of 6 cases showing a subset of patients with better prognosis and a rare ZNF532::NUTM1 fusion. | 3 |
Citation
Anna Collin
NUTM1 (nuclear protein in testis)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/41595
