Q8TF46 (DI3L1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 70.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: DIS3-like exonuclease 1 EC=3.1.13.- | ||||
| Gene names |
| ||||
| 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 | 1054 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Putative cytoplasm-specific catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. Ref.6 Ref.7 |
| Cofactor | |
| Subunit structure | Component of the RNA exosome complex. The catalytically inactive RNA exosome core (Exo-9) complex is believed to associate with catalytic subunits EXOSC10, and DIS3 or DIS3L in cytoplasmic- and nuclear-specific RNA exosome complex forms. |
| Subcellular location | |
| Sequence similarities | Belongs to the RNR ribonuclease family. |
| Sequence caution | The sequence BAB85541.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm Exosome |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Ligand | Magnesium RNA-binding |
| Molecular function | Exonuclease Hydrolase Nuclease |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | rRNA catabolic process Inferred from direct assay Ref.7. Source: UniProtKB |
| Cellular_component | centrosome Inferred from direct assay. Source: HPA cytoplasmic exosome (RNase complex)Inferred from direct assay Ref.6Ref.7. Source: UniProtKB plasma membraneInferred from direct assay. Source: HPA |
| Molecular_function | 3'-5'-exoribonuclease activity Inferred from direct assay Ref.7. Source: UniProtKB RNA bindingInferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| EXOSC2 | Q13868 | 2 | EBI-3895807,EBI-301735 |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8TF46-1) 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: Q8TF46-2) The sequence of this isoform differs from the canonical sequence as follows: 1-134: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q8TF46-3) The sequence of this isoform differs from the canonical sequence as follows: 735-750: SNKTLADSLDNANDPH → YSSFEGAEEWSGMLYI 751-1054: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q8TF46-4) The sequence of this isoform differs from the canonical sequence as follows: 1-83: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1054 | 1054 | DIS3-like exonuclease 1 | PRO_0000314810 | |||||
Natural variations | |||||||||
| Alternative sequence | 1 – 134 | 134 | Missing in isoform 2. | VSP_030366 | |||||
| Alternative sequence | 1 – 83 | 83 | Missing in isoform 4. | VSP_030367 | |||||
| Alternative sequence | 735 – 750 | 16 | SNKTL…ANDPH → YSSFEGAEEWSGMLYI in isoform 3. | VSP_030368 | |||||
| Alternative sequence | 751 – 1054 | 304 | Missing in isoform 3. | VSP_030369 | |||||
| Natural variant | 518 | 1 | I → V. Corresponds to variant rs34668776 [ dbSNP | Ensembl ]. | VAR_038056 | |||||
| Natural variant | 614 | 1 | D → G. Ref.2 Ref.5 Corresponds to variant rs3803412 [ dbSNP | Ensembl ]. | VAR_038057 | |||||
| Natural variant | 747 | 1 | N → S. Corresponds to variant rs17258507 [ dbSNP | Ensembl ]. | VAR_038058 | |||||
Experimental info | |||||||||
| Mutagenesis | 62 | 1 | D → N: No change of exonuclease activity. Ref.7 | ||||||
| Mutagenesis | 166 | 1 | D → N: No change of exonuclease activity. Ref.7 | ||||||
| Mutagenesis | 486 | 1 | D → N: Complete loss of exonuclease activity. Ref.6 Ref.7 | ||||||
Sequences
| ||||||||||||||||||||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | "Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins." Nagase T., Kikuno R., Ohara O. DNA Res. 8:319-327(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain. |
| [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 3), VARIANT GLY-614. Tissue: Tongue. |
| [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]. |
| [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 (JUL-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 4), VARIANT GLY-614. Tissue: Kidney and Muscle. |
| [6] | "The human core exosome interacts with differentially localized processive RNases: hDIS3 and hDIS3L." Tomecki R., Kristiansen M.S., Lykke-Andersen S., Chlebowski A., Larsen K.M., Szczesny R.J., Drazkowska K., Pastula A., Andersen J.S., Stepien P.P., Dziembowski A., Jensen T.H. EMBO J. 29:2342-2357(2010) [PubMed] [Europe PMC] [Abstract] Cited for: ASSOCIATION WITH THE RNA EXOSOME COMPLEX, MASS SPECTROMETRY, FUNCTION, COFACTOR, SUBCELLULAR LOCATION, MUTAGENESIS OF ASP-486. |
| [7] | "Dis3-like 1: a novel exoribonuclease associated with the human exosome." Staals R.H., Bronkhorst A.W., Schilders G., Slomovic S., Schuster G., Heck A.J., Raijmakers R., Pruijn G.J. EMBO J. 29:2358-2367(2010) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, COFACTOR, SUBCELLULAR LOCATION, MUTAGENESIS OF ASP-62; ASP-166 AND ASP-486. |
| [8] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AB075835 mRNA. Translation: BAB85541.1. Different initiation. AK095407 mRNA. Translation: BAC04542.1. AC055855 Genomic DNA. No translation available. CH471082 Genomic DNA. Translation: EAW77759.1. BC014124 mRNA. Translation: AAH14124.2. BC022089 mRNA. Translation: AAH22089.1. |
| IPI | IPI00291003. IPI00295876. IPI00879677. IPI00879828. |
| RefSeq | NP_001137160.1. NM_001143688.1. NP_588616.1. NM_133375.3. |
| UniGene | Hs.446251. |
3D structure databases | |
| ProteinModelPortal | Q8TF46. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q8TF46. 2 interactions. |
| STRING | 9606.ENSP00000321711. |
PTM databases | |
| PhosphoSite | Q8TF46. |
Polymorphism databases | |
| DMDM | 166201903. |
Proteomic databases | |
| PaxDb | Q8TF46. |
| PeptideAtlas | Q8TF46. |
| PRIDE | Q8TF46. |
Protocols and materials databases | |
| DNASU | 115752. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000319194; ENSP00000321583; ENSG00000166938. ENST00000319212; ENSP00000321711; ENSG00000166938. |
| GeneID | 115752. |
| KEGG | hsa:115752. |
| UCSC | uc002app.3. human. uc002apq.2. human. |
Organism-specific databases | |
| CTD | 115752. |
| GeneCards | GC15P066585. |
| HGNC | HGNC:28698. DIS3L. |
| HPA | HPA041805. |
| MIM | 614183. gene. |
| neXtProt | NX_Q8TF46. |
| PharmGKB | PA162383675. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG0557. |
| HOGENOM | HOG000191945. |
| HOVERGEN | HBG059397. |
| InParanoid | Q8TF46. |
| OMA | IPRFGIK. |
Gene expression databases | |
| ArrayExpress | Q8TF46. |
| Bgee | Q8TF46. |
| CleanEx | HS_DIS3L. |
| Genevestigator | Q8TF46. |
Family and domain databases | |
| InterPro | IPR001900. RNase_II/R. IPR022966. RNase_II/R_CS. [Graphical view] |
| Pfam | PF00773. RNB. 1 hit. [Graphical view] |
| SMART | SM00955. RNB. 1 hit. [Graphical view] |
| PROSITE | PS01175. RIBONUCLEASE_II. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | DIS3L. human. |
| GenomeRNAi | 115752. |
| NextBio | 79674. |
| SOURCE | Search... |
Entry information
| Entry name | DI3L1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8TF46 Secondary accession number(s): Q8N1N8, Q8WTU9, Q96CM7 | ||||||||
| Entry history |
| ||||||||
| 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
