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NUTM1 (nuclear protein in testis)

Identity

Other namesC15orf55
DKFZp434O192
MGC138683
HGNC (Hugo) NUTM1
LocusID (NCBI) 256646
Location 15q14
Location_base_pair Starts at 34635516 and ends at 34649938 bp from pter ( according to hg19-Feb_2009)
Local_order (position 32425358-32437221 on the chromosome 15 genomic sequence).

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.

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.

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.
  

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).

Other Solid tumors implicated (Data extracted from papers in the Atlas)

Solid Tumors AmeloblastomID5945

External links

Nomenclature
HGNC (Hugo)NUTM1   29919
Cards
AtlasNUTID41595ch15q14
Entrez_Gene (NCBI)NUTM1  256646  NUT midline carcinoma, family member 1
GeneCards (Weizmann)NUTM1
Ensembl (Hinxton)ENSG00000184507 [Gene_View]  chr15:34635516-34649938 [Contig_View]  NUTM1 [Vega]
ICGC DataPortalENSG00000184507
AceView (NCBI)NUTM1
Genatlas (Paris)NUTM1
WikiGenes256646
SOURCE (Princeton)NM_001284292 NM_001284293 NM_175741
Genomic and cartography
GoldenPath (UCSC)NUTM1  -  15q14   chr15:34635516-34649938 +  15q14   [Description]    (hg19-Feb_2009)
EnsemblNUTM1 - 15q14 [CytoView]
Mapping of homologs : NCBINUTM1 [Mapview]
OMIM608963   
Gene and transcription
Genbank (Entrez)AF482429 AK098568 AK302656 AK302680 AL137416
RefSeq transcript (Entrez)NM_001284292 NM_001284293 NM_175741
RefSeq genomic (Entrez)AC_000147 NC_000015 NC_018926 NT_010194 NW_001838214 NW_004929398
Consensus coding sequences : CCDS (NCBI)NUTM1
Cluster EST : UnigeneHs.525769 [ NCBI ]
CGAP (NCI)Hs.525769
Alternative Splicing : Fast-db (Paris)GSHG0009744
Alternative Splicing GalleryENSG00000184507
Gene ExpressionNUTM1 [ NCBI-GEO ]     NUTM1 [ SEEK ]   NUTM1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86Y26 (Uniprot)
NextProtQ86Y26  [Medical]
With graphics : InterProQ86Y26
Splice isoforms : SwissVarQ86Y26 (Swissvar)
Domains : Interpro (EBI)NUT/FAM22    NUT_C    NUT_N   
Related proteins : CluSTrQ86Y26
Domain families : Pfam (Sanger)NUT_C (PF12882)    NUT_N (PF12881)   
Domain families : Pfam (NCBI)pfam12882    pfam12881   
DMDM Disease mutations256646
Blocks (Seattle)Q86Y26
Human Protein AtlasENSG00000184507
Peptide AtlasQ86Y26
HPRD10606
IPIIPI01010333   IPI00167192   IPI00953047   IPI00971193   IPI00217916   
Protein Interaction databases
DIP (DOE-UCLA)Q86Y26
IntAct (EBI)Q86Y26
FunCoupENSG00000184507
BioGRIDNUTM1
IntegromeDBNUTM1
STRING (EMBL)NUTM1
Ontologies - Pathways
QuickGOQ86Y26
Ontology : AmiGOnucleus  cytoplasm  
Ontology : EGO-EBInucleus  cytoplasm  
Protein Interaction DatabaseNUTM1
Wikipedia pathwaysNUTM1
Gene fusion - rearrangments
Rearrangement : TICdbNUTM1 [15q14]  -  BRD4 [5q32]
Rearrangement : TICdbBRD3 [9q34.2]  -  NUTM1 [17p13.2]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)NUTM1
SNP (GeneSNP Utah)NUTM1
SNP : HGBaseNUTM1
Genetic variants : HAPMAPNUTM1
1000_GenomesNUTM1 
ICGC programENSG00000184507 
DECIPHER (Syndromes)15:34635516-34649938
Mutations and Diseases : HGMDNUTM1
OMIM608963   
MedgenNUTM1
GENETestsNUTM1
Disease Genetic AssociationNUTM1
Huge Navigator NUTM1 [HugePedia]  NUTM1 [HugeCancerGEM]
Genomic VariantsNUTM1  NUTM1 [DGVbeta]
Exome VariantNUTM1
dbVarNUTM1
ClinVarNUTM1
snp3D : Map Gene to Disease256646
DGIdb (Curated mutations)NUTM1
DGIdb (Drug Gene Interaction db)NUTM1
General knowledge
Homologs : HomoloGeneNUTM1
Homology/Alignments : Family Browser (UCSC)NUTM1
Phylogenetic Trees/Animal Genes : TreeFamNUTM1
Chemical/Protein Interactions : CTD256646
Chemical/Pharm GKB GenePA162378206
Clinical trialNUTM1
Cancer Resource (Charite)ENSG00000184507
Other databases
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
CoreMineNUTM1
GoPubMedNUTM1
iHOPNUTM1

Bibliography

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
 
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
 
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
 
Carcinoma with t(15;19) translocation.
Marx A, French CA, Fletcher JA
In..
 
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, Dahlą©n A, Dictor M, Jerkeman M
BMC cancer. 2006 ; 6 : page 69.
PMID 16542442
 
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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written02-2007Anna Collin

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 online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/NUTID41595ch15q14.html

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indexed on : Thu Dec 4 15:23:08 CET 2014

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