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Q8TF46

- DI3L1_HUMAN

UniProt

Q8TF46 - DI3L1_HUMAN

Protein

DIS3-like exonuclease 1

Gene

DIS3L

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 82 (01 Oct 2014)
      Sequence version 2 (15 Jan 2008)
      Previous versions | rss
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    Functioni

    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.2 Publications

    Cofactori

    Magnesium.2 Publications

    GO - Molecular functioni

    1. 3'-5'-exoribonuclease activity Source: UniProtKB
    2. enzyme binding Source: UniProtKB
    3. protein binding Source: IntAct
    4. RNA binding Source: UniProtKB-KW

    GO - Biological processi

    1. RNA phosphodiester bond hydrolysis, exonucleolytic Source: GOC
    2. rRNA catabolic process Source: UniProtKB

    Keywords - Molecular functioni

    Exonuclease, Hydrolase, Nuclease

    Keywords - Ligandi

    Magnesium, RNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    DIS3-like exonuclease 1 (EC:3.1.13.-)
    Gene namesi
    Name:DIS3L
    Synonyms:DIS3L1, KIAA1955
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:28698. DIS3L.

    Subcellular locationi

    Cytoplasm 2 Publications

    GO - Cellular componenti

    1. cytoplasmic exosome (RNase complex) Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Exosome

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi62 – 621D → N: No change of exonuclease activity. 1 Publication
    Mutagenesisi166 – 1661D → N: No change of exonuclease activity. 1 Publication
    Mutagenesisi486 – 4861D → N: Complete loss of exonuclease activity. 2 Publications

    Organism-specific databases

    PharmGKBiPA162383675.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 10541054DIS3-like exonuclease 1PRO_0000314810Add
    BLAST

    Proteomic databases

    MaxQBiQ8TF46.
    PaxDbiQ8TF46.
    PeptideAtlasiQ8TF46.
    PRIDEiQ8TF46.

    PTM databases

    PhosphoSiteiQ8TF46.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8TF46.
    BgeeiQ8TF46.
    CleanExiHS_DIS3L.
    GenevestigatoriQ8TF46.

    Organism-specific databases

    HPAiHPA041805.

    Interactioni

    Subunit structurei

    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.

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    EXOSC2Q138682EBI-3895807,EBI-301735
    EXOSC3Q9NQT53EBI-3672244,EBI-371866

    Protein-protein interaction databases

    BioGridi125453. 19 interactions.
    IntActiQ8TF46. 15 interactions.
    STRINGi9606.ENSP00000321711.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8TF46.
    SMRiQ8TF46. Positions 9-955.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the RNR ribonuclease family.Curated

    Phylogenomic databases

    eggNOGiCOG0557.
    HOGENOMiHOG000191945.
    HOVERGENiHBG059397.
    InParanoidiQ8TF46.
    KOiK12585.
    OMAiIPRFGIK.
    OrthoDBiEOG77T13R.
    PhylomeDBiQ8TF46.
    TreeFamiTF105755.

    Family and domain databases

    InterProiIPR012340. NA-bd_OB-fold.
    IPR022966. RNase_II/R_CS.
    [Graphical view]
    SUPFAMiSSF50249. SSF50249. 4 hits.
    PROSITEiPS01175. RIBONUCLEASE_II. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8TF46-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MLQKREKVLL LRTFQGRTLR IVREHYLRPC VPCHSPLCPQ PAACSHDGKL     50
    LSSDVTHYVI PDWKVVQDYL EILEFPELKG IIFMQTACQA VQHQRGRRQY 100
    NKLRNLLKDA RHDCILFANE FQQCCYLPRE RGESMEKWQT RSIYNAAVWY 150
    YHHCQDRMPI VMVTEDEEAI QQYGSETEGV FVITFKNYLD NFWPDLKAAH 200
    ELCDSILQSR RERENESQES HGKEYPEHLP LEVLEAGIKS GRYIQGILNV 250
    NKHRAQIEAF VRLQGASSKD SDLVSDILIH GMKARNRSIH GDVVVVELLP 300
    KNEWKGRTVA LCENDCDDKA SGESPSEPMP TGRVVGILQK NWRDYVVTFP 350
    SKEEVQSQGK NAQKILVTPW DYRIPKIRIS TQQAETLQDF RVVVRIDSWE 400
    STSVYPNGHF VRVLGRIGDL EGEIATILVE NSISVIPFSE AQMCEMPVNT 450
    PESPWKVSPE EEQKRKDLRK SHLVFSIDPK GCEDVDDTLS VRTLNNGNLE 500
    LGVHIADVTH FVAPNSYIDI EARTRATTYY LADRRYDMLP SVLSADLCSL 550
    LGGVDRYAVS IMWELDKASY EIKKVWYGRT IIRSAYKLFY EAAQELLDGN 600
    LSVVDDIPEF KDLDEKSRQA KLEELVWAIG KLTDIARHVR AKRDGCGALE 650
    LEGVEVCVQL DDKKNIHDLI PKQPLEVHET VAECMILANH WVAKKIWESF 700
    PHQALLRQHP PPHQEFFSEL RECAKAKGFF IDTRSNKTLA DSLDNANDPH 750
    DPIVNRLLRS MATQAMSNAL YFSTGSCAEE EFHHYGLALD KYTHFTSPIR 800
    RYSDIVVHRL LMAAISKDKK MEIKGNLFSN KDLEELCRHI NNRNQAAQHS 850
    QKQSTELFQC MYFKDKDPAT EERCISDGVI YSIRTNGVLL FIPRFGIKGA 900
    AYLKNKDGLV ISCGPDSCSE WKPGSLQRFQ NKITSTTTDG ESVTFHLFDH 950
    VTVRISIQAS RCHSDTIRLE IISNKPYKIP NTELIHQSSP LLKSELVKEV 1000
    TKSVEEAQLA QEVKVNIIQE EYQEYRQTKG RSLYTLLEEI RDLALLDVSN 1050
    NYGI 1054
    Length:1,054
    Mass (Da):120,787
    Last modified:January 15, 2008 - v2
    Checksum:iB57B691CC25F65B8
    GO
    Isoform 2 (identifier: Q8TF46-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-134: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:920
    Mass (Da):105,012
    Checksum:i2F7FB46F906C79A0
    GO
    Isoform 3 (identifier: Q8TF46-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         735-750: SNKTLADSLDNANDPH → YSSFEGAEEWSGMLYI
         751-1054: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:750
    Mass (Da):86,260
    Checksum:iDBACF862A569703A
    GO
    Isoform 4 (identifier: Q8TF46-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-83: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:971
    Mass (Da):111,119
    Checksum:iA3145DE249DF5279
    GO

    Sequence cautioni

    The sequence BAB85541.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti518 – 5181I → V.
    Corresponds to variant rs34668776 [ dbSNP | Ensembl ].
    VAR_038056
    Natural varianti614 – 6141D → G.2 Publications
    Corresponds to variant rs3803412 [ dbSNP | Ensembl ].
    VAR_038057
    Natural varianti747 – 7471N → S.
    Corresponds to variant rs17258507 [ dbSNP | Ensembl ].
    VAR_038058

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 134134Missing in isoform 2. 1 PublicationVSP_030366Add
    BLAST
    Alternative sequencei1 – 8383Missing in isoform 4. 1 PublicationVSP_030367Add
    BLAST
    Alternative sequencei735 – 75016SNKTL…ANDPH → YSSFEGAEEWSGMLYI in isoform 3. 1 PublicationVSP_030368Add
    BLAST
    Alternative sequencei751 – 1054304Missing in isoform 3. 1 PublicationVSP_030369Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS10214.1. [Q8TF46-4]
    CCDS45286.1. [Q8TF46-1]
    RefSeqiNP_001137160.1. NM_001143688.1. [Q8TF46-1]
    NP_588616.1. NM_133375.3. [Q8TF46-4]
    XP_005254202.1. XM_005254145.1. [Q8TF46-4]
    XP_005254204.1. XM_005254147.2. [Q8TF46-4]
    UniGeneiHs.446251.
    Hs.658492.

    Genome annotation databases

    EnsembliENST00000319194; ENSP00000321583; ENSG00000166938. [Q8TF46-4]
    ENST00000319212; ENSP00000321711; ENSG00000166938. [Q8TF46-1]
    GeneIDi115752.
    KEGGihsa:115752.
    UCSCiuc002app.3. human. [Q8TF46-1]
    uc002apq.2. human. [Q8TF46-3]

    Polymorphism databases

    DMDMi166201903.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS10214.1. [Q8TF46-4 ]
    CCDS45286.1. [Q8TF46-1 ]
    RefSeqi NP_001137160.1. NM_001143688.1. [Q8TF46-1 ]
    NP_588616.1. NM_133375.3. [Q8TF46-4 ]
    XP_005254202.1. XM_005254145.1. [Q8TF46-4 ]
    XP_005254204.1. XM_005254147.2. [Q8TF46-4 ]
    UniGenei Hs.446251.
    Hs.658492.

    3D structure databases

    ProteinModelPortali Q8TF46.
    SMRi Q8TF46. Positions 9-955.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125453. 19 interactions.
    IntActi Q8TF46. 15 interactions.
    STRINGi 9606.ENSP00000321711.

    PTM databases

    PhosphoSitei Q8TF46.

    Polymorphism databases

    DMDMi 166201903.

    Proteomic databases

    MaxQBi Q8TF46.
    PaxDbi Q8TF46.
    PeptideAtlasi Q8TF46.
    PRIDEi Q8TF46.

    Protocols and materials databases

    DNASUi 115752.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000319194 ; ENSP00000321583 ; ENSG00000166938 . [Q8TF46-4 ]
    ENST00000319212 ; ENSP00000321711 ; ENSG00000166938 . [Q8TF46-1 ]
    GeneIDi 115752.
    KEGGi hsa:115752.
    UCSCi uc002app.3. human. [Q8TF46-1 ]
    uc002apq.2. human. [Q8TF46-3 ]

    Organism-specific databases

    CTDi 115752.
    GeneCardsi GC15P066585.
    HGNCi HGNC:28698. DIS3L.
    HPAi HPA041805.
    MIMi 614183. gene.
    neXtProti NX_Q8TF46.
    PharmGKBi PA162383675.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0557.
    HOGENOMi HOG000191945.
    HOVERGENi HBG059397.
    InParanoidi Q8TF46.
    KOi K12585.
    OMAi IPRFGIK.
    OrthoDBi EOG77T13R.
    PhylomeDBi Q8TF46.
    TreeFami TF105755.

    Miscellaneous databases

    ChiTaRSi DIS3L. human.
    GeneWikii DIS3L.
    GenomeRNAii 115752.
    NextBioi 79674.
    PROi Q8TF46.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8TF46.
    Bgeei Q8TF46.
    CleanExi HS_DIS3L.
    Genevestigatori Q8TF46.

    Family and domain databases

    InterProi IPR012340. NA-bd_OB-fold.
    IPR022966. RNase_II/R_CS.
    [Graphical view ]
    SUPFAMi SSF50249. SSF50249. 4 hits.
    PROSITEi PS01175. RIBONUCLEASE_II. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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.
      , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
      Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. 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. Cited for: ASSOCIATION WITH THE RNA EXOSOME COMPLEX, IDENTIFICATION BY 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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiDI3L1_HUMAN
    AccessioniPrimary (citable) accession number: Q8TF46
    Secondary accession number(s): Q8N1N8, Q8WTU9, Q96CM7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 15, 2008
    Last sequence update: January 15, 2008
    Last modified: October 1, 2014
    This is version 82 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3