Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

C15orf55 (nuclear protein in testis)

Identity

Other namesNUT (nuclear protein in testis)
DKFZp434O192
MGC138683
HGNC (Hugo) C15orf55
LocusID (NCBI) 256646
Location 15q14
Location_base_pair Starts at 34638066 and ends at 34649931 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Local_order (position 32425358-32437221 on the chromosome 15 genomic sequence).
Note the gene name NUT has not been approved by the HUGO Gene Nomenclature Committee.

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).

External links

Nomenclature
HGNC (Hugo)C15orf55   29919
Entrez_Gene (NCBI)C15orf55  256646  chromosome 15 open reading frame 55
Cards
AtlasNUTID41595ch15q14
GeneCards (Weizmann)C15orf55
Ensembl (Hinxton)ENSG00000184507 [Gene_View]  chr15:34638066-34649931 [Contig_View]  C15orf55 [Vega]
AceView (NCBI)C15orf55
Genatlas (Paris)C15orf55
euGene (Indiana)256646
SOURCE (Stanford)NM_175741
Genomic and cartography
GoldenPath (UCSC)C15orf55  -  15q14   chr15:34638066-34649931 +  15q14   [Description]    (hg19-Feb_2009)
EnsemblC15orf55 - 15q14 [CytoView]
Mapping of homologs : NCBIC15orf55 [Mapview]
OMIM608963   
Gene and transcription
Genbank (Entrez)AF482429 AK098568 AK302656 AK302680 AL137416
RefSeq transcript (SRS)NM_175741
RefSeq transcript (Entrez)NM_175741
RefSeq genomic (SRS)AC_000147 NC_000015 NG_011562 NT_010194 NW_001838214
RefSeq genomic (Entrez)AC_000147 NC_000015 NG_011562 NT_010194 NW_001838214
Consensus coding sequences : CCDS (NCBI)C15orf55
Cluster EST : UnigeneHs.525769 [ SRS ] Hs.525769 [ NCBI ]
Alternative Splicing : Fast-db (Paris)1591
Alternative Splicing GalleryENSG00000184507
Gene ExpressionC15orf55 [ NCBI-GEO ]   C15orf55 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86Y26 (SRS) Q86Y26 (Uniprot)
With graphics : InterProQ86Y26
Splice isoforms : SwissVarQ86Y26(Swissvar)
Domains : Interpro (SRS)NUT/FAM22    NUT_C    NUT_N   
Domains : Interpro (EBI)NUT/FAM22    NUT_C    NUT_N   
Related proteins : CluSTrQ86Y26
Domain families : Pfam (SRS)NUT_C (PF12882)    NUT_N (PF12881)   
Domain families : Pfam (Sanger)NUT_C (PF12882)    NUT_N (PF12881)   
Domain families : Pfam (NCBI)pfam12882    pfam12881   
Blocks (Seattle)Q86Y26
Human Protein AtlasENSG00000184507
HPRD10606
IPIIPI01010333   IPI00167192   IPI00953047   IPI00971193   IPI00217916   
Protein Interaction databases
DIP (DOE-UCLA)Q86Y26
IntAct (EBI)Q86Y26
FunCoupENSG00000184507
REACTOMEC15orf55
BioGRIDC15orf55
InParanoidQ86Y26
Interologous Interaction database Q86Y26
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)C15orf55
SNP (GeneSNP Utah)C15orf55
SNP : HGBaseC15orf55
Genetic variants : HAPMAPC15orf55
Cancer Gene: CensusC15orf55 
Somatic Mutations in Cancer : COSMICC15orf55 
CONAN: Copy Number AnalysisC15orf55 
Rearrangement : COSMICBRD3 [9q34.2]  -  C15orf55 [15q14]
Rearrangement : COSMICBRD4 [19p13.12]  -  C15orf55 [15q14]
Translocation Breakpoints in Cancer : TICdbC15orf55 
Mutations and Diseases : HGMDC15orf55
OMIM608963   
GENETests608963   
Disease Genetic AssociationC15orf55
Huge Navigator C15orf55 [HugePedia]  C15orf55 [HugeCancerGEM]
Genomic VariantsC15orf55
snp3D : Map Gene to Disease256646
General knowledge
Homologs : HomoloGeneC15orf55
Homology/Alignments : Family Browser (UCSC)C15orf55
Phylogenetic Trees/Animal Genes : TreeFamC15orf55
Chemical/Protein Interactions : CTD256646
Chemical/Pharm GKB GenePA162378206
Clinical trialC15orf55
Cancer Resource (Charite)ENSG00000184507
Ontology : AmiGOnucleus  cytoplasm  
Ontology : EGO-EBInucleus  cytoplasm  
Other databases
Probes
Probes : ImagenesC15orf55 Related clones (RZPD - Berlin)
Litterature
PubMed9 Pubmed reference(s) in Entrez
PubGeneC15orf55
iHOPC15orf55

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, Dahlˆ©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

Search in all EBI   NCBI

Contributor(s)

Written02-2007Anna Collin

Citation

This paper should be referenced as such :
Collin A . C15orf55 (nuclear protein in testis). Atlas Genet Cytogenet Oncol Haematol. February 2007 .
URL : http://AtlasGeneticsOncology.org/Genes/NUTID41595ch15q14.html

This paper is referenced by INIST as such :
http://documents.irevues.inist.fr/bitstream/2042/38442/1/02-2007-NUTID41595ch15q14.pdf   [ Bibliographic record ]

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Apr 28 15:04:31 CEST 2012

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.