Q86Y26 (NUT_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
April 3, 2013.
Version 67.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Protein NUT Alternative name(s): Nuclear protein in testis | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1132 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Subcellular location | Cytoplasm. Nucleus. Note: Shuttles between nucleus and cytoplasm. Ref.7 |
| Tissue specificity | Specifically expressed in testis. Ref.1 |
| Post-translational modification | Phosphorylation on Ser-1026, Ser-1029 or Ser-1031 is important for cytoplasmic export. |
| Involvement in disease | A chromosomal aberration involving NUT is found in a rare, aggressive, and lethal carcinoma arising in midline organs of young people. Translocation t(15;19)(q14;p13) with BRD4 which produces a BRD4-NUT fusion protein. Ref.1 A chromosomal aberration involving NUT is found in a rare, aggressive, and lethal carcinoma arising in midline organs of young people. Translocation t(15;9)(q14;q34) with BRD3 which produces a BRD3-NUT fusion protein. |
| Sequence similarities | Belongs to the FAM22 family. |
| Sequence caution | The sequence AAO22237.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm Nucleus |
| Coding sequence diversity | Alternative splicing Chromosomal rearrangement Polymorphism |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular_component | cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell nucleusInferred from electronic annotation. Source: UniProtKB-SubCell |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q86Y26-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q86Y26-2) The sequence of this isoform differs from the canonical sequence as follows: 235-365: Missing. 565-573: LQPELAAPQ → PPTNGESQC 574-1132: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1132 | 1132 | Protein NUT | PRO_0000311394 | |||||
Regions | |||||||||
| Compositional bias | 10 – 182 | 173 | Pro-rich | ||||||
Sites | |||||||||
| Site | 5 – 6 | 2 | Breakpoint for translocation to form BRD4-NUT and BRD3-NUT fusion proteins | ||||||
Amino acid modifications | |||||||||
| Modified residue | 1026 | 1 | Phosphoserine Probable | ||||||
| Modified residue | 1029 | 1 | Phosphoserine Probable | ||||||
| Modified residue | 1031 | 1 | Phosphoserine Probable | ||||||
Natural variations | |||||||||
| Alternative sequence | 235 – 365 | 131 | Missing in isoform 2. | VSP_029559 | |||||
| Alternative sequence | 565 – 573 | 9 | LQPELAAPQ → PPTNGESQC in isoform 2. | VSP_029560 | |||||
| Alternative sequence | 574 – 1132 | 559 | Missing in isoform 2. | VSP_029561 | |||||
| Natural variant | 22 | 1 | P → L. Ref.1 Ref.2 Ref.3 Ref.5 Corresponds to variant rs374230 [ dbSNP | Ensembl ]. | VAR_037239 | |||||
| Natural variant | 781 | 1 | T → M. Corresponds to variant rs16959028 [ dbSNP | Ensembl ]. | VAR_037240 | |||||
| Natural variant | 785 | 1 | V → E. Corresponds to variant rs17236868 [ dbSNP | Ensembl ]. | VAR_037241 | |||||
| Natural variant | 973 | 1 | T → N. Corresponds to variant rs2279683 [ dbSNP | Ensembl ]. | VAR_037242 | |||||
| Natural variant | 985 | 1 | P → R. Corresponds to variant rs2279684 [ dbSNP | Ensembl ]. | VAR_037243 | |||||
| Natural variant | 1113 | 1 | R → H. Corresponds to variant rs2279685 [ dbSNP | Ensembl ]. | VAR_037244 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "BRD4-NUT fusion oncogene: a novel mechanism in aggressive carcinoma." French C.A., Miyoshi I., Kubonishi I., Grier H.E., Perez-Atayde A.R., Fletcher J.A. Cancer Res. 63:304-307(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), DISEASE, CHROMOSOMAL TRANSLOCATION WITH BRD4, TISSUE SPECIFICITY, VARIANT LEU-22. Tissue: Carcinoma and Testis. |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT LEU-22. Tissue: Testis. |
| [3] | "Analysis of the DNA sequence and duplication history of human chromosome 15." Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. Nusbaum C.Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT LEU-22. |
| [4] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT LEU-22. |
| [6] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 890-1132 (ISOFORM 1). Tissue: Testis. |
| [7] | "BRD-NUT oncoproteins: a family of closely related nuclear proteins that block epithelial differentiation and maintain the growth of carcinoma cells." French C.A., Ramirez C.L., Kolmakova J., Hickman T.T., Cameron M.J., Thyne M.E., Kutok J.L., Toretsky J.A., Tadavarthy A.K., Kees U.R., Fletcher J.A., Aster J.C. Oncogene 27:2237-2242(2008) [PubMed] [Europe PMC] [Abstract] Cited for: CHROMOSOMAL TRANSLOCATION WITH BRD3, SUBCELLULAR LOCATION, PHOSPHORYLATION AT SER-1026; SER-1029 AND SER-1031. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF482429 mRNA. Translation: AAO39268.1. AY166680 mRNA. Translation: AAO22237.1. Different initiation. AK098568 mRNA. Translation: BAC05337.1. AC021822 Genomic DNA. No translation available. AC025678 Genomic DNA. No translation available. CH471125 Genomic DNA. Translation: EAW92304.1. BC114518 mRNA. Translation: AAI14519.1. BC114567 mRNA. Translation: AAI14568.1. AL137416 mRNA. Translation: CAB70729.1. |
| IPI | IPI00167192. IPI01010333. |
| PIR | T46461. |
| RefSeq | NP_786883.1. NM_175741.1. |
| UniGene | Hs.525769. |
3D structure databases | |
| ProteinModelPortal | Q86Y26. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000329448. |
PTM databases | |
| PhosphoSite | Q86Y26. |
Polymorphism databases | |
| DMDM | 311033405. |
Proteomic databases | |
| PaxDb | Q86Y26. |
| PRIDE | Q86Y26. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000333756; ENSP00000329448; ENSG00000184507. |
| GeneID | 256646. |
| KEGG | hsa:256646. |
Organism-specific databases | |
| CTD | 256646. |
| GeneCards | GC15P034635. |
| HGNC | HGNC:29919. C15orf55. |
| HPA | HPA040421. |
| MIM | 608963. gene. |
| neXtProt | NX_Q86Y26. |
| PharmGKB | PA162378206. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG39838. |
| HOVERGEN | HBG107898. |
| InParanoid | Q86Y26. |
| PhylomeDB | Q86Y26. |
Gene expression databases | |
| ArrayExpress | Q86Y26. |
| Bgee | Q86Y26. |
| CleanEx | HS_C15orf55. |
| Genevestigator | Q86Y26. |
Family and domain databases | |
| InterPro | IPR024310. NUT/FAM22. IPR024313. NUT_C. IPR024309. NUT_N. [Graphical view] |
| PANTHER | PTHR22879. PTHR22879. 1 hit. |
| Pfam | PF12882. NUT_C. 1 hit. PF12881. NUT_N. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 256646. |
| NextBio | 92844. |
| SOURCE | Search... |
Entry information
| Entry name | NUT_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q86Y26 Secondary accession number(s): Q86YS8, Q8N7F2, Q9NTB3 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 15 Human chromosome 15: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
