NUTM1 (nuclear protein in testis)

2007-02-01   Anna Collin  

Department of Clinical Genetics, University Hospital, SE-221 85 Lund, Sweden

Identity

HGNC
NUTM1
LOCATION
15q14
LOCUSID
256646
ALIAS
C15orf55,FAM22H,NUT
FUSION GENES
Show Gene Fusions

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.
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).

Bibliography

Pubmed IDLast YearTitleAuthors
165424422006Midline 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
154830232004Midline carcinoma of children and young adults with NUT rearrangement.French CA et al
125437792003BRD4-NUT fusion oncogene: a novel mechanism in aggressive carcinoma.French CA et al
17856731991Intrathoracic carcinoma in an 11-year-old girl showing a translocation t(15;19).Kees UR et al
164353792007Successful 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 IDTranscript IDUniprot
ENSG00000184507ENST00000333756Q86Y26
ENSG00000184507ENST00000438749Q86Y26
ENSG00000184507ENST00000537011Q86Y26
ENSG00000184507ENST00000614490Q86Y26

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
362197022023NUT Carcinoma in Children and Adolescents: The Expert European Standard Clinical Practice Harmonized Recommendations.2
366906742023Structural mechanism of BRD4-NUT and p300 bipartite interaction in propagating aberrant gene transcription in chromatin in NUT carcinoma.12
370827752023The expanding universe of NUTM1 fusions in pediatric cancer.2
380580412023[Primary pulmonary NUT carcinoma: a clinicopathological analysis of seven cases].0
362197022023NUT Carcinoma in Children and Adolescents: The Expert European Standard Clinical Practice Harmonized Recommendations.2
366906742023Structural mechanism of BRD4-NUT and p300 bipartite interaction in propagating aberrant gene transcription in chromatin in NUT carcinoma.12
370827752023The expanding universe of NUTM1 fusions in pediatric cancer.2
380580412023[Primary pulmonary NUT carcinoma: a clinicopathological analysis of seven cases].0
345251722022CIC-NUTM1 Sarcomas Affecting the Spine.8
350642912022NUT carcinoma of the parotid gland: report of two cases, one with a rare ZNF532-NUTM1 fusion.4
356234652022NUT 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
357917772022Clinicopathologic features of an MXI1::NUTM1 fusion neoplasm; a new molecular variant of the family of NUTM1-rearranged neoplasm.1
345251722022CIC-NUTM1 Sarcomas Affecting the Spine.8
350642912022NUT carcinoma of the parotid gland: report of two cases, one with a rare ZNF532-NUTM1 fusion.4
356234652022NUT 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/gene-fusions-explorer/css/lib/meetings/