ID   RRP44_HUMAN    STANDARD;      PRT;   958 AA.
AC   Q9Y2L1; Q5W0P7; Q5W0P8; Q658Z7; Q7Z481; Q8WWI2; Q9UG36;
DT   30-MAY-2000 (Rel. 39, Created)
DT   13-SEP-2005 (Rel. 48, Last sequence update)
DT   24-JAN-2006 (Rel. 49, Last annotation update)
DE   Exosome complex exonuclease RRP44 (EC 3.1.13.-) (Ribosomal RNA
DE   processing protein 44) (DIS3 protein homolog).
GN   Name=DIS3; Synonyms=KIAA1008, RRP44;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA], AND CHARACTERIZATION.
RX   MEDLINE=98230695; PubMed=9562621;
RA   Shiomi T., Fukushima K., Suzuki N., Nakashima N., Noguchi E.,
RA   Nishimoto T.;
RT   "Human dis3p, which binds to either GTP- or GDP-Ran, complements
RT   Saccharomyces cerevisiae dis3.";
RL   J. Biochem. 123:883-890(1998).
RN   [2]
RP   ERRATUM.
RA   Shiomi T., Fukushima K., Suzuki N., Nakashima N., Noguchi E.,
RA   Nishimoto T.;
RL   J. Biochem. 124:250-250(1998).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT SER-269.
RC   TISSUE=Brain, and Peripheral blood leukocyte;
RX   MEDLINE=21932550; PubMed=11935316; DOI=10.1007/s00439-001-0646-6;
RA   Rozenblum E., Vahteristo P., Sandberg T., Bergthorsson J.T.,
RA   Syrjakoski K., Weaver D., Haraldsson K., Johannsdottir H.K.,
RA   Vehmanen P., Nigam S., Golberger N., Robbins C., Pak E., Dutra A.,
RA   Gillander E., Stephan D.A., Bailey-Wilson J., Juo S.-H.H., Kainu T.,
RA   Arason A., Barkardottir R.B., Nevanlinna H., Borg A.,
RA   Kallioniemi O.-P.;
RT   "A genomic map of a 6-Mb region at 13q21-q22 implicated in cancer
RT   development: identification and characterization of candidate genes.";
RL   Hum. Genet. 110:111-121(2002).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT
RP   ARG-326.
RC   TISSUE=Brain;
RX   MEDLINE=99246063; PubMed=10231032;
RA   Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M.,
RA   Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.;
RT   "Prediction of the coding sequences of unidentified human genes. XIII.
RT   The complete sequences of 100 new cDNA clones from brain which code
RT   for large proteins in vitro.";
RL   DNA Res. 6:63-70(1999).
RN   [5]
RP   SEQUENCE REVISION.
RX   MEDLINE=22158633; PubMed=12168954;
RA   Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.;
RT   "Construction of expression-ready cDNA clones for KIAA genes: manual
RT   curation of 330 KIAA cDNA clones.";
RL   DNA Res. 9:99-106(2002).
RN   [6]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT
RP   SER-269.
RC   TISSUE=Lymph node, and Testis;
RG   The German cDNA consortium;
RL   Submitted (SEP-2004) to the EMBL/GenBank/DDBJ databases.
RN   [7]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15057823; DOI=10.1038/nature02379;
RA   Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
RA   Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E.,
RA   Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E.,
RA   Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.,
RA   Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R.,
RA   Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S.,
RA   Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
RA   Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M.,
RA   Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J.,
RA   Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E.,
RA   Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L.,
RA   Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J.,
RA   Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S.,
RA   Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J.,
RA   Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M.,
RA   King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A.,
RA   Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S.,
RA   Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
RA   Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I.,
RA   Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S.,
RA   Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A.,
RA   Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B.,
RA   Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L.,
RA   Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.,
RA   Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.;
RT   "The DNA sequence and analysis of human chromosome 13.";
RL   Nature 428:522-528(2004).
RN   [8]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT
RP   ARG-326.
RC   TISSUE=Lymph;
RX   MEDLINE=22388257; PubMed=12477932; DOI=10.1073/pnas.242603899;
RA   Strausberg R.L., Feingold E.A., Grouse L.H., Derge J.G.,
RA   Klausner R.D., Collins F.S., Wagner L., Shenmen C.M., Schuler G.D.,
RA   Altschul S.F., Zeeberg B., Buetow K.H., Schaefer C.F., Bhat N.K.,
RA   Hopkins R.F., Jordan H., Moore T., Max S.I., Wang J., Hsieh F.,
RA   Diatchenko L., Marusina K., Farmer A.A., Rubin G.M., Hong L.,
RA   Stapleton M., Soares M.B., Bonaldo M.F., Casavant T.L., Scheetz T.E.,
RA   Brownstein M.J., Usdin T.B., Toshiyuki S., Carninci P., Prange C.,
RA   Raha S.S., Loquellano N.A., Peters G.J., Abramson R.D., Mullahy S.J.,
RA   Bosak S.A., McEwan P.J., McKernan K.J., Malek J.A., Gunaratne P.H.,
RA   Richards S., Worley K.C., Hale S., Garcia A.M., Gay L.J., Hulyk S.W.,
RA   Villalon D.K., Muzny D.M., Sodergren E.J., Lu X., Gibbs R.A.,
RA   Fahey J., Helton E., Ketteman M., Madan A., Rodrigues S., Sanchez A.,
RA   Whiting M., Madan A., Young A.C., Shevchenko Y., Bouffard G.G.,
RA   Blakesley R.W., Touchman J.W., Green E.D., Dickson M.C.,
RA   Rodriguez A.C., Grimwood J., Schmutz J., Myers R.M.,
RA   Butterfield Y.S.N., Krzywinski M.I., Skalska U., Smailus D.E.,
RA   Schnerch A., Schein J.E., Jones S.J.M., Marra M.A.;
RT   "Generation and initial analysis of more than 15,000 full-length human
RT   and mouse cDNA sequences.";
RL   Proc. Natl. Acad. Sci. U.S.A. 99:16899-16903(2002).
RN   [9]
RP   IDENTIFICATION BY MASS SPECTROMETRY, AND SUBCELLULAR LOCATION.
RX   MEDLINE=22317277; PubMed=12429849; DOI=10.1091/mbc.E02-05-0271;
RA   Scherl A., Coute Y., Deon C., Calle A., Kindbeiter K., Sanchez J.-C.,
RA   Greco A., Hochstrasser D.F., Diaz J.-J.;
RT   "Functional proteomic analysis of human nucleolus.";
RL   Mol. Biol. Cell 13:4100-4109(2002).
CC   -!- FUNCTION: Component of the exosome 3'->5' exoribonuclease complex.
CC       Required for the 3' processing of the 7S pre-RNA to the mature
CC       nuclear complex. Also associated with the GTPase Ran. Has a 3'-5'
CC       exonuclease activity.
CC   -!- SUBUNIT: Component of the exosome multienzyme ribonuclease complex
CC       composed of at least 11 proteins: RRP4, RRP40, RRP41/SKI6, RRP42,
CC       RRP43, RRP44/DIS3, PM/Scl-75, RRP46, CSL4 and PM/Scl-100 (only in
CC       the nuclear complex). Also associated with the GTPase Ran (By
CC       similarity).
CC   -!- SUBCELLULAR LOCATION: Cytoplasmic and nuclear; nucleolar.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q9Y2L1-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q9Y2L1-2; Sequence=VSP_014971;
CC   -!- TISSUE SPECIFICITY: Widely expressed.
CC   -!- SIMILARITY: Belongs to the ribonuclease II (RNB) family.
CC   ---------------------------------------------------------------------------
CC   Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC   Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC   ---------------------------------------------------------------------------
DR   EMBL; AF330044; AAL37479.1; -; mRNA.
DR   EMBL; AB023225; BAA76852.2; ALT_INIT; mRNA.
DR   EMBL; AL832266; CAH56266.1; -; mRNA.
DR   EMBL; AL080158; CAB45749.1; -; mRNA.
DR   EMBL; AL138695; CAH72709.1; -; Genomic_DNA.
DR   EMBL; AL391384; CAH72709.1; JOINED; Genomic_DNA.
DR   EMBL; AL138695; CAH72708.1; -; Genomic_DNA.
DR   EMBL; AL391384; CAH72708.1; JOINED; Genomic_DNA.
DR   EMBL; AL391384; CAI15670.1; -; Genomic_DNA.
DR   EMBL; AL138695; CAI15670.1; JOINED; Genomic_DNA.
DR   EMBL; AL391384; CAI15671.1; -; Genomic_DNA.
DR   EMBL; AL138695; CAI15671.1; JOINED; Genomic_DNA.
DR   EMBL; BC056143; AAH56143.1; -; mRNA.
DR   PIR; JE0110; JE0110.
DR   SWISS-2DPAGE; Q9Y2L1; HUMAN.
DR   Ensembl; ENSG00000083520; Homo sapiens.
DR   HGNC; HGNC:20604; KIAA1008.
DR   MIM; 607533; -.
DR   GO; GO:0000178; C:exosome (RNase complex); TAS.
DR   GO; GO:0016219; F:GDP-dissociation stimulator activity; IDA.
DR   GO; GO:0006364; P:rRNA processing; TAS.
DR   PROSITE; PS01175; RIBONUCLEASE_II; 1.
KW   Alternative splicing; Exonuclease; Exosome; Hydrolase;
KW   Nuclear protein; Nuclease; Polymorphism; RNA-binding; rRNA processing.
FT   VARSPLIC     78    129       DVLEDPAIRNVIVLQTVLQEVRNRSAPVYKRIRDVTNNQEK
FT                                HFYTFTNEHHR -> VSAWRPGTWASVASSLRLPGSL (in
FT                                isoform 2).
FT                                /FTId=VSP_014971.
FT   VARIANT     269    269       N -> S (in dbSNP:4883918).
FT                                /FTId=VAR_023099.
FT   VARIANT     326    326       T -> R (in dbSNP:7332388).
FT                                /FTId=VAR_023100.
FT   CONFLICT    635    635       P -> S (in Ref. 6; CAH56266).
SQ   SEQUENCE   958 AA;  109003 MW;  92336BA0D06247FE CRC64;
     MLKSKTFLKK TRAGGVMKIV REHYLRDDIG CGAPGCAACG GAHEGPALEP QPQDPASSVC
     PQPHYLLPDT NVLLHQIDVL EDPAIRNVIV LQTVLQEVRN RSAPVYKRIR DVTNNQEKHF
     YTFTNEHHRE TYVEQEQGEN ANDRNDRAIR VAAKWYNEHL KKMSADNQLQ VIFITNDRRN
     KEKAIEEGIP AFTCEEYVKS LTANPELIDR LACLSEEGNE IESGKIIFSE HLPLSKLQQG
     IKSGTYLQGT FRASRENYLE ATVWIHGDNE ENKEIILQGL KHLNRAVHED IVAVELLPKS
     QWVAPSSVVL HDEGQNEEDV EKEEETERML KTAVSEKMLK PTGRVVGIIK RNWRPYCGML
     SKSDIKESRR HLFTPADKRI PRIRIETRQA STLEGRRIIV AIDGWPRNSR YPNGHFVRNL
     GDVGEKETET EVLLLEHDVP HQPFSQAVLS FLPKMPWSIT EKDMKNREDL RHLCICSVDP
     PGCTDIDDAL HCRELENGNL EVGVHIADVS HFIRPGNALD QESARRGTTV YLCEKRIDMV
     PELLSSNLCS LKCDVDRLAF SCIWEMNHNA EILKTKFTKS VINSKASLTY AEAQLRIDSA
     NMNDDITTSL RGLNKLAKIL KKRRIEKGAL TLSSPEVRFH MDSETHDPID LQTKELRETN
     SMVEEFMLLA NISVAKKIHE EFSEHALLRK HPAPPPSNYE ILVKAARSRN LEIKTDTAKS
     LAESLDQAES PTFPYLNTLL RILATRCMMQ AVYFCSGMDN DFHHYGLASP IYTHFTSPIR
     RYADVIVHRL LAVAIGADCT YPELTDKHKL ADICKNLNFR HKMAQYAQRA SVAFHTQLFF
     KSKGIVSEEA YILFVRKNAI VVLIPKYGLE GTVFFEEKDK PNPQLIYDDE IPSLKIEDTV
     FHVFDKVKVK IMLDSSNLQH QKIRMSLVEP QIPGISIPTD TSNMDLNGPK KKKMKLGK
//