ID   RPA49_HUMAN             Reviewed;         481 AA.
AC   Q9GZS1; Q5VZT3; Q8NBA9; Q96L20;
DT   26-APR-2005, integrated into UniProtKB/Swiss-Prot.
DT   26-APR-2005, sequence version 2.
DT   05-OCT-2010, entry version 78.
DE   RecName: Full=DNA-directed RNA polymerase I subunit RPA49;
DE            Short=RNA polymerase I subunit A49;
DE   AltName: Full=DNA-directed RNA polymerase I subunit E;
DE   AltName: Full=RNA polymerase I-associated factor 1;
DE   AltName: Full=RNA polymerase I-associated factor 53;
GN   Name=POLR1E; Synonyms=PAF53, PRAF1;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC   TISSUE=Placenta;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA   Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA   Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA   Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA   Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA   Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA   Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA   Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA   Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA   Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA   Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA   Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA   Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA   Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA   Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA   Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA   Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA   Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA   Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA   Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RA   Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT   "Cloning of human full open reading frames in Gateway(TM) system entry
RT   vector (pDONR201).";
RL   Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15164053; DOI=10.1038/nature02465;
RA   Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E.,
RA   Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C.,
RA   Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S.,
RA   Babbage A.K., Babbage S., Bagguley C.L., Bailey J., Banerjee R.,
RA   Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P.,
RA   Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W.,
RA   Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G.,
RA   Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M.,
RA   Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W.,
RA   Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A.,
RA   Frankland J.A., French L., Fricker D.G., Garner P., Garnett J.,
RA   Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA   Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA   Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA   Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA   Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA   Kimberley A.M., King A., Knights A., Laird G.K., Langford C.,
RA   Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M.,
RA   Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S.,
RA   McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J.,
RA   Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R.,
RA   Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M.,
RA   Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M.,
RA   Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A.,
RA   Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P.,
RA   Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W.,
RA   Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA   Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S.,
RA   Rogers J., Dunham I.;
RT   "DNA sequence and analysis of human chromosome 9.";
RL   Nature 429:369-374(2004).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT
RP   LYS-445.
RC   TISSUE=Cervix, and Lung;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [5]
RP   IDENTIFICATION BY MASS SPECTROMETRY, AND SUBCELLULAR LOCATION [LARGE
RP   SCALE ANALYSIS].
RC   TISSUE=Cervix carcinoma;
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).
RN   [6]
RP   IDENTIFICATION IN THE RNA POL I COMPLEX.
RX   PubMed=16809778; DOI=10.1128/MCB.00230-06;
RA   Panov K.I., Panova T.B., Gadal O., Nishiyama K., Saito T., Russell J.,
RA   Zomerdijk J.C.B.M.;
RT   "RNA polymerase I-specific subunit CAST/hPAF49 has a role in the
RT   activation of transcription by upstream binding factor.";
RL   Mol. Cell. Biol. 26:5436-5448(2006).
RN   [7]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-225, AND MASS
RP   SPECTROMETRY.
RC   TISSUE=Cervix carcinoma;
RX   PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA   Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA   Elledge S.J., Gygi S.P.;
RT   "A quantitative atlas of mitotic phosphorylation.";
RL   Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN   [8]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RA   Colinge J., Superti-Furga G., Bennett K.L.;
RL   Submitted (OCT-2008) to UniProtKB.
CC   -!- FUNCTION: DNA-dependent RNA polymerase catalyzes the transcription
CC       of DNA into RNA using the four ribonucleoside triphosphates as
CC       substrates. Component of RNA polymerase I which synthesizes
CC       ribosomal RNA precursors. Appears to be involved in the formation
CC       of the initiation complex at the promoter by mediating the
CC       interaction between Pol I and UBTF/UBF (By similarity).
CC   -!- SUBUNIT: Component of the RNA polymerase I (Pol I) complex
CC       consisting of at least 13 subunits (By similarity). Interacts with
CC       PAF49/CD3EAP. Also binds UBTF/UBF (By similarity).
CC   -!- INTERACTION:
CC       Q9UHI6:DDX20; NbExp=1; IntAct=EBI-359458, EBI-347658;
CC       P26196:DDX6; NbExp=1; IntAct=EBI-359458, EBI-351257;
CC       Q9BUJ2:HNRNPUL1; NbExp=1; IntAct=EBI-359458, EBI-1018153;
CC       O00159:MYO1C; NbExp=1; IntAct=EBI-359458, EBI-350423;
CC       O15160:POLR1C; NbExp=1; IntAct=EBI-359458, EBI-1055079;
CC       Q9NXS2:QPCTL; NbExp=1; IntAct=EBI-359458, EBI-1052839;
CC   -!- SUBCELLULAR LOCATION: Nucleus, nucleolus.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q9GZS1-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q9GZS1-2; Sequence=VSP_013535;
CC   -!- SIMILARITY: Belongs to the eukaryotic RPA49/POLR1E RNA polymerase
CC       subunit family.
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DR   EMBL; AK023452; BAB14579.1; -; mRNA.
DR   EMBL; AK024032; BAB14791.1; -; mRNA.
DR   EMBL; AK091294; BAC03629.1; -; mRNA.
DR   EMBL; CR457313; CAG33594.1; -; mRNA.
DR   EMBL; AL158156; CAH73518.1; -; Genomic_DNA.
DR   EMBL; AL158156; CAH73519.1; -; Genomic_DNA.
DR   EMBL; BC001337; AAH01337.1; -; mRNA.
DR   EMBL; BC014331; AAH14331.1; -; mRNA.
DR   IPI; IPI00251989; -.
DR   IPI; IPI00550638; -.
DR   RefSeq; NP_071935.1; -.
DR   UniGene; Hs.591087; -.
DR   IntAct; Q9GZS1; 25.
DR   MINT; MINT-1137773; -.
DR   STRING; Q9GZS1; -.
DR   PhosphoSite; Q9GZS1; -.
DR   SWISS-2DPAGE; Q9GZS1; -.
DR   PRIDE; Q9GZS1; -.
DR   Ensembl; ENST00000377792; ENSP00000367023; ENSG00000137054.
DR   GeneID; 64425; -.
DR   KEGG; hsa:64425; -.
DR   NMPDR; fig|9606.3.peg.31289; -.
DR   UCSC; uc003zzy.1; human.
DR   UCSC; uc003zzz.1; human.
DR   CTD; 64425; -.
DR   GeneCards; GC09P037477; -.
DR   HGNC; HGNC:17631; POLR1E.
DR   HPA; HPA022527; -.
DR   eggNOG; prNOG10966; -.
DR   HOGENOM; HBG714325; -.
DR   HOVERGEN; HBG053490; -.
DR   InParanoid; Q9GZS1; -.
DR   OMA; RRMNRVG; -.
DR   OrthoDB; EOG9J13V8; -.
DR   PhylomeDB; Q9GZS1; -.
DR   NextBio; 66425; -.
DR   ArrayExpress; Q9GZS1; -.
DR   Bgee; Q9GZS1; -.
DR   CleanEx; HS_POLR1E; -.
DR   Genevestigator; Q9GZS1; -.
DR   GermOnline; ENSG00000137054; Homo sapiens.
DR   GO; GO:0005730; C:nucleolus; ISS:HGNC.
DR   GO; GO:0003677; F:DNA binding; IEA:InterPro.
DR   GO; GO:0003899; F:DNA-directed RNA polymerase activity; IEA:UniProtKB-KW.
DR   GO; GO:0005515; F:protein binding; IPI:IntAct.
DR   GO; GO:0009303; P:rRNA transcription; ISS:HGNC.
DR   InterPro; IPR009668; RNA_pol-assoc_fac_A49-like.
DR   Pfam; PF06870; RNA_pol_I_A49; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Complete proteome; DNA-directed RNA polymerase;
KW   Nucleus; Phosphoprotein; Polymorphism; Transcription.
FT   CHAIN         1    481       DNA-directed RNA polymerase I subunit
FT                                RPA49.
FT                                /FTId=PRO_0000073956.
FT   MOD_RES     225    225       Phosphoserine.
FT   VAR_SEQ       1     87       MYQASAVSLLPRDIPSCHSPSPGFSHLPTSSSQLAPDLLQF
FT                                PLGQDPSFLAIPILTLPPSDSLVPPYIVWYIVWPSALISFL
FT                                GCTLT -> MAAEVLPSARWQYCGAPDGSQRAVL (in
FT                                isoform 2).
FT                                /FTId=VSP_013535.
FT   VARIANT     254    254       D -> H (in dbSNP:rs7863488).
FT                                /FTId=VAR_022372.
FT   VARIANT     418    418       V -> M (in dbSNP:rs7867180).
FT                                /FTId=VAR_022373.
FT   VARIANT     445    445       R -> K (in dbSNP:rs10814571).
FT                                /FTId=VAR_022374.
FT   CONFLICT     56     56       T -> A (in Ref. 1; BAC03629).
SQ   SEQUENCE   481 AA;  53962 MW;  8E43E238D0C669CB CRC64;
     MYQASAVSLL PRDIPSCHSP SPGFSHLPTS SSQLAPDLLQ FPLGQDPSFL AIPILTLPPS
     DSLVPPYIVW YIVWPSALIS FLGCTLTVQF SNGKLQSPGN MRFTLYENKD STNPRKRNQR
     ILAAETDRLS YVGNNFGTGA LKCNTLCRHF VGILNKTSGQ MEVYDAELFN MQPLFSDVSV
     ESELALESQT KTYREKMDSC IEAFGTTKQK RALNTRRMNR VGNESLNRAV AKAAETIIDT
     KGVTALVSDA IHNDLQDDSL YLPPCYDDAA KPEDVYKFED LLSPAEYEAL QSPSEAFRNV
     TSEEILKMIE ENSHCTFVIE ALKSLPSDVE SRDRQARCIW FLDTLIKFRA HRVVKRKSAL
     GPGVPHIINT KLLKHFTCLT YNNGRLRNLI SDSMKAKITA YVIILALHIH DFQIDLTVLQ
     RDLKLSEKRM MEIAKAMRLK ISKRRVSVAA GSEEDHKLGT LSLPLPPAQT SDRLAKRRKI
     T
//