NUTM1 (nuclear protein in testis)

Written2007-02Anna Collin
Department of Clinical Genetics, University Hospital, SE-221 85 Lund, Sweden

(Note : for Links provided by Atlas : click)

1. Identity

General Information
chromosome 15 open reading frame 55
Alias_symbol (synonym)NUT
Other aliasMGC138683
LocusID (NCBI) 256646
Atlas_Id 41595
Location 15q14  [Link to chromosome band 15q14]
Location_base_pair Starts at 34343315 and ends at 34357737 bp from pter ( according to hg19-Feb_2009)  [Mapping NUTM1.png]
Local_order (position 32425358-32437221 on the chromosome 15 genomic sequence).
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ACIN1 (14q11.2) / NUTM1 (15q14)BRD3 (9q34.2) / NUTM1 (15q14)BRD4 (19p13.12) / NUTM1 (15q14)
BRD9 (5p15.33) / NUTM1 (15q14)CUX1 (7q22.1) / NUTM1 (15q14)IKZF1 (7p12.2) / NUTM1 (15q14)
NSD3 (8p11.23) / NUTM1 (15q14)NUTM1 (15q14) / BRD3 (9q34.2)NUTM1 (15q14) / BRD4 (19p13.12)


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.

3. Protein

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.

4. Implicated in

Entity 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/Mutated 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.
Abnormal 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.

5. 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).

6. Bibliography

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, Soller M, Panagopoulos I, Dahlén A, Dictor M, Jerkeman M
BMC cancer. 2006 ; 6 : page 69.
PMID 16542442
Midline carcinoma of children and young adults with NUT rearrangement.
French CA, Kutok JL, Faquin WC, Toretsky JA, Antonescu CR, Griffin CA, Nose V, Vargas SO, Moschovi M, Tzortzatou-Stathopoulou F, Miyoshi I, Perez-Atayde AR, Aster JC, Fletcher JA
Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2004 ; 22 (20) : 4135-4139.
PMID 15483023
BRD4-NUT fusion oncogene: a novel mechanism in aggressive carcinoma.
French CA, Miyoshi I, Kubonishi I, Grier HE, Perez-Atayde AR, Fletcher JA
Cancer research. 2003 ; 63 (2) : 304-307.
PMID 12543779
Intrathoracic carcinoma in an 11-year-old girl showing a translocation t(15;19).
Kees UR, Mulcahy MT, Willoughby ML
The American journal of pediatric hematology/oncology. 1991 ; 13 (4) : 459-464.
PMID 1785673
Carcinoma with t(15;19) translocation.
Marx A, French CA, Fletcher JA
Successful treatment of a child with t(15;19)-positive tumor.
Mertens F, Wiebe T, Adlercreutz C, Mandahl N, French CA
Pediatric blood & cancer. 2007 ; 49 (7) : 1015-1017.
PMID 16435379

7. Citation

This paper should be referenced as such :
Collin, A
NUT (nuclear protein in testis)
Atlas Genet Cytogenet Oncol Haematol. 2007;11(3):207-208.
Free journal version : [ pdf ]   [ DOI ]
On line version :

8. Other Leukemias implicated (Data extracted from papers in the Atlas) [ 5 ]

9. External links

HGNC (Hugo)NUTM1   29919
Entrez_Gene (NCBI)NUTM1  256646  NUT midline carcinoma family member 1
AliasesC15orf55; FAM22H; NUT
GeneCards (Weizmann)NUTM1
Ensembl hg19 (Hinxton)ENSG00000184507 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000184507 [Gene_View] &nbspENSG00000184507 [Sequence]  chr15:34343315-34357737 [Contig_View]  NUTM1 [Vega]
ICGC DataPortalENSG00000184507
TCGA cBioPortalNUTM1
Genatlas (Paris)NUTM1
SOURCE (Princeton)NUTM1
Genetics Home Reference (NIH)NUTM1
Genomic and cartography
GoldenPath hg38 (UCSC)NUTM1  -     chr15:34343315-34357737 +  15q14   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NUTM1  -     15q14   [Description]    (hg19-Feb_2009)
EnsemblNUTM1 - 15q14 [CytoView hg19]  NUTM1 - 15q14 [CytoView hg38]
Mapping of homologs : NCBINUTM1 [Mapview hg19]  NUTM1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF482429 AK098568 AK302656 AK302680 AL137416
RefSeq transcript (Entrez)NM_001284292 NM_001284293 NM_175741
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NUTM1
Cluster EST : UnigeneHs.525769 [ NCBI ]
CGAP (NCI)Hs.525769
Alternative Splicing GalleryENSG00000184507
Gene ExpressionNUTM1 [ NCBI-GEO ]   NUTM1 [ EBI - ARRAY_EXPRESS ]   NUTM1 [ SEEK ]   NUTM1 [ MEM ]
Gene Expression Viewer (FireBrowse)NUTM1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets] &nbsp [Normal Tissue Atlas] &nbsp[carcinoma Classsification] &nbsp[NCI60]
GenevestigatorExpression in : [tissues] &nbsp[cell-lines] &nbsp[cancer] &nbsp[perturbations] &nbsp
BioGPS (Tissue expression)256646
GTEX Portal (Tissue expression)NUTM1
Human Protein AtlasENSG00000184507-NUTM1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86Y26   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86Y26  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86Y26
Splice isoforms : SwissVarQ86Y26
Domains : Interpro (EBI)NUT    NUT_N   
Domain families : Pfam (Sanger)NUT (PF12881)   
Domain families : Pfam (NCBI)pfam12881   
Conserved Domain (NCBI)NUTM1
DMDM Disease mutations256646
Blocks (Seattle)NUTM1
Human Protein Atlas [tissue]ENSG00000184507-NUTM1 [tissue]
Peptide AtlasQ86Y26
IPIIPI01010333   IPI00167192   IPI00953047   IPI00971193   IPI00217916   
Protein Interaction databases
IntAct (EBI)Q86Y26
Ontologies - Pathways
Ontology : AmiGOprotein binding  nucleus  cytoplasm  
Ontology : EGO-EBIprotein binding  nucleus  cytoplasm  
NDEx NetworkNUTM1
Atlas of Cancer Signalling NetworkNUTM1
Wikipedia pathwaysNUTM1
Orthology - Evolution
GeneTree (enSembl)ENSG00000184507
Phylogenetic Trees/Animal Genes : TreeFamNUTM1
Homologs : HomoloGeneNUTM1
Homology/Alignments : Family Browser (UCSC)NUTM1
Gene fusions - Rearrangements
Fusion : MitelmanBRD3/NUTM1 [9q34.2/15q14] &nbsp[t(9;15)(q34;q14)]  
Fusion : MitelmanBRD4/NUTM1 [19p13.12/15q14] &nbsp[der(15)(q14)]  [t(15;19)(q14;p13)]  
Fusion : TICdbBRD3 [9q34.2]  -  NUTM1 [15q14]
Fusion : TICdbNUTM1 [15q14]  -  BRD4 [19p13.12]
Fusion : QuiverNUTM1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNUTM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NUTM1
Exome Variant ServerNUTM1
ExAC (Exome Aggregation Consortium)ENSG00000184507
GNOMAD BrowserENSG00000184507
Varsome BrowserNUTM1
Genetic variants : HAPMAP256646
Genomic Variants (DGV)NUTM1 [DGVbeta]
DECIPHERNUTM1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNUTM1 
ICGC Data PortalNUTM1 
TCGA Data PortalNUTM1 
Broad Tumor PortalNUTM1
OASIS PortalNUTM1 [ Somatic mutations - Copy number]
Cancer Gene: CensusNUTM1 
Somatic Mutations in Cancer : COSMICNUTM1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNUTM1
intOGen PortalC15orf55
BioMutasearch NUTM1
DgiDB (Drug Gene Interaction Database)NUTM1
DoCM (Curated mutations)NUTM1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NUTM1 (select a term)
NCG5 (London)NUTM1
Cancer3DNUTM1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Genetic Testing Registry NUTM1
NextProtQ86Y26 [Medical]
Target ValidationNUTM1
Huge Navigator NUTM1 [HugePedia]
snp3D : Map Gene to Disease256646
BioCentury BCIQNUTM1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD256646
Chemical/Pharm GKB GenePA162378206
Clinical trialNUTM1
canSAR (ICR)NUTM1 (select the gene name)
DataMed IndexNUTM1
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 17 19:03:21 CET 2019

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