NUT (nuclear protein in testis)

Identity

Other names	DKFZp434O192
	MGC138683
Hugo	C15orf55
Location	15q14 (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
Hugo	-
GDB	C15orf55
Entrez_Gene	C15orf55  256646  chromosome 15 open reading frame 55
	Cards
Atlas	NUTID41595ch15q14
GeneCards	C15orf55
Ensembl	C15orf55 [Search_View]   ENSG00000184507 [Gene_View]
Genatlas	C15orf55
GeneLynx	C15orf55
eGenome	C15orf55
euGene	256646
	Genomic and cartography
GoldenPath	C15orf55  -     chr15:32425358-32437221 +  15q14   [Description]    (hg18-Mar_2006)
Ensembl	C15orf55 - 15q14 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	C15orf55
	Gene and transcription
Genbank	AF482429 [ ENTREZ ]
Genbank	AK098568 [ ENTREZ ]
Genbank	AL137416 [ ENTREZ ]
Genbank	BC033392 [ ENTREZ ]
Genbank	BC114518 [ ENTREZ ]
RefSeq	NM_175741 [ SRS ]    NM_175741 [ ENTREZ ]
RefSeq	AC_000058 [ SRS ]    AC_000058 [ ENTREZ ]
RefSeq	NC_000015 [ SRS ]    NC_000015 [ ENTREZ ]
RefSeq	NT_010194 [ SRS ]    NT_010194 [ ENTREZ ]
RefSeq	NW_925840 [ SRS ]    NW_925840 [ ENTREZ ]
AceView	C15orf55 AceView - NCBI
Unigene	Hs.525769 [ SRS ]    Hs.525769 [ NCBI ]     HS525769 [ spliceNest ]
Fast-db	1591 (alternative variants)
	Protein : pattern, domain, 3D structure
HPRD	10606
	Protein Interaction databases
	Polymorphism : SNP, mutations, diseases
OMIM	608963    [ map ]
GENECLINICS	608963
SNP	C15orf55 [dbSNP-NCBI]
SNP	NM_175741 [SNP-NCI]
SNP	C15orf55 [GeneSNPs - Utah]  C15orf55] [HGBASE - SRS]
HAPMAP	C15orf55 [HAPMAP]
HGMD	-
	General knowledge
Family Browser	C15orf55 [UCSC Family Browser]
SOURCE	NM_175741
SMD	Hs.525769
SAGE	Hs.525769
PubGene	C15orf55
TreeFam	-
CTD	256646 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	C15orf55 Related clones (RZPD - Berlin)
	PubMed
PubMed	3 Pubmed reference(s) in LocusLink

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 articles	automatic search in PubMed
Last year publications	automatic search in PubMed

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Contributor(s)

Written	02-2007	Anna Collin

Citation

This paper should be referenced as such :

Collin A . NUT (nuclear protein in testis). Atlas Genet Cytogenet Oncol Haematol. February 2007 . URL : http://AtlasGeneticsOncology.org/Genes/NUTID41595ch15q14.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Wed Jul 2 08:25:42 2008