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Q9GZS1

- RPA49_HUMAN

UniProt

Q9GZS1 - RPA49_HUMAN

Protein

DNA-directed RNA polymerase I subunit RPA49

Gene

POLR1E

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 113 (01 Oct 2014)
      Sequence version 2 (26 Apr 2005)
      Previous versions | rss
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    Functioni

    DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors. Appears to be involved in the formation of the initiation complex at the promoter by mediating the interaction between Pol I and UBTF/UBF By similarity.By similarity

    GO - Molecular functioni

    1. DNA binding Source: InterPro
    2. DNA-directed RNA polymerase activity Source: UniProtKB-KW

    GO - Biological processi

    1. rRNA transcription Source: HGNC
    2. transcription from RNA polymerase I promoter Source: GOC

    Keywords - Biological processi

    Transcription

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    DNA-directed RNA polymerase I subunit RPA49
    Short name:
    RNA polymerase I subunit A49
    Alternative name(s):
    DNA-directed RNA polymerase I subunit E
    RNA polymerase I-associated factor 1
    RNA polymerase I-associated factor 53
    Gene namesi
    Name:POLR1E
    Synonyms:PAF53, PRAF1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:17631. POLR1E.

    Subcellular locationi

    Nucleusnucleolus 1 Publication

    GO - Cellular componenti

    1. DNA-directed RNA polymerase I complex Source: RefGenome
    2. nucleolus Source: HGNC

    Keywords - Cellular componenti

    DNA-directed RNA polymerase, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142671136.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 481481DNA-directed RNA polymerase I subunit RPA49PRO_0000073956Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei97 – 971Phosphoserine1 Publication
    Modified residuei225 – 2251Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9GZS1.
    PaxDbiQ9GZS1.
    PRIDEiQ9GZS1.

    2D gel databases

    SWISS-2DPAGEQ9GZS1.

    PTM databases

    PhosphoSiteiQ9GZS1.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9GZS1.
    BgeeiQ9GZS1.
    CleanExiHS_POLR1E.
    GenevestigatoriQ9GZS1.

    Organism-specific databases

    HPAiHPA022527.

    Interactioni

    Subunit structurei

    Component of the RNA polymerase I (Pol I) complex consisting of at least 13 subunits By similarity. Interacts with PAF49/CD3EAP. Also binds UBTF/UBF By similarity.By similarity

    Protein-protein interaction databases

    BioGridi122173. 19 interactions.
    DIPiDIP-27546N.
    IntActiQ9GZS1. 8 interactions.
    MINTiMINT-1137773.
    STRINGi9606.ENSP00000367029.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9GZS1.
    SMRiQ9GZS1. Positions 87-176.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiNOG301234.
    HOGENOMiHOG000035116.
    HOVERGENiHBG053490.
    InParanoidiQ9GZS1.
    KOiK03005.
    OMAiSGQMEVY.
    OrthoDBiEOG73NG39.
    PhylomeDBiQ9GZS1.
    TreeFamiTF331685.

    Family and domain databases

    InterProiIPR009668. RNA_pol-assoc_fac_A49-like.
    [Graphical view]
    PfamiPF06870. RNA_pol_I_A49. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9GZS1-1) [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

    MYQASAVSLL PRDIPSCHSP SPGFSHLPTS SSQLAPDLLQ FPLGQDPSFL    50
    AIPILTLPPS DSLVPPYIVW YIVWPSALIS FLGCTLTVQF SNGKLQSPGN 100
    MRFTLYENKD STNPRKRNQR ILAAETDRLS YVGNNFGTGA LKCNTLCRHF 150
    VGILNKTSGQ MEVYDAELFN MQPLFSDVSV ESELALESQT KTYREKMDSC 200
    IEAFGTTKQK RALNTRRMNR VGNESLNRAV AKAAETIIDT KGVTALVSDA 250
    IHNDLQDDSL YLPPCYDDAA KPEDVYKFED LLSPAEYEAL QSPSEAFRNV 300
    TSEEILKMIE ENSHCTFVIE ALKSLPSDVE SRDRQARCIW FLDTLIKFRA 350
    HRVVKRKSAL GPGVPHIINT KLLKHFTCLT YNNGRLRNLI SDSMKAKITA 400
    YVIILALHIH DFQIDLTVLQ RDLKLSEKRM MEIAKAMRLK ISKRRVSVAA 450
    GSEEDHKLGT LSLPLPPAQT SDRLAKRRKI T 481
    Length:481
    Mass (Da):53,962
    Last modified:April 26, 2005 - v2
    Checksum:i8E43E238D0C669CB
    GO
    Isoform 2 (identifier: Q9GZS1-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-87: MYQASAVSLL...LISFLGCTLT → MAAEVLPSARWQYCGAPDGSQRAVL

    Show »
    Length:419
    Mass (Da):47,260
    Checksum:iAB9EF3B9E8230053
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti56 – 561T → A in BAC03629. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti254 – 2541D → H.
    Corresponds to variant rs7863488 [ dbSNP | Ensembl ].
    VAR_022372
    Natural varianti418 – 4181V → M.
    Corresponds to variant rs7867180 [ dbSNP | Ensembl ].
    VAR_022373
    Natural varianti445 – 4451R → K.1 Publication
    Corresponds to variant rs10814571 [ dbSNP | Ensembl ].
    VAR_022374

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 8787MYQAS…GCTLT → MAAEVLPSARWQYCGAPDGS QRAVL in isoform 2. 3 PublicationsVSP_013535Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK023452 mRNA. Translation: BAB14579.1.
    AK024032 mRNA. Translation: BAB14791.1.
    AK091294 mRNA. Translation: BAC03629.1.
    CR457313 mRNA. Translation: CAG33594.1.
    AL158156 Genomic DNA. Translation: CAH73518.1.
    AL158156 Genomic DNA. Translation: CAH73519.1.
    BC001337 mRNA. Translation: AAH01337.1.
    BC014331 mRNA. Translation: AAH14331.1.
    CCDSiCCDS6611.1. [Q9GZS1-2]
    RefSeqiNP_001269695.1. NM_001282766.1.
    NP_071935.1. NM_022490.2. [Q9GZS1-2]
    XP_005251604.1. XM_005251547.1. [Q9GZS1-1]
    UniGeneiHs.591087.
    Hs.733126.

    Genome annotation databases

    EnsembliENST00000377792; ENSP00000367023; ENSG00000137054. [Q9GZS1-1]
    ENST00000377798; ENSP00000367029; ENSG00000137054. [Q9GZS1-2]
    GeneIDi64425.
    KEGGihsa:64425.
    UCSCiuc003zzy.1. human. [Q9GZS1-2]
    uc003zzz.1. human. [Q9GZS1-1]

    Polymorphism databases

    DMDMi62901107.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK023452 mRNA. Translation: BAB14579.1 .
    AK024032 mRNA. Translation: BAB14791.1 .
    AK091294 mRNA. Translation: BAC03629.1 .
    CR457313 mRNA. Translation: CAG33594.1 .
    AL158156 Genomic DNA. Translation: CAH73518.1 .
    AL158156 Genomic DNA. Translation: CAH73519.1 .
    BC001337 mRNA. Translation: AAH01337.1 .
    BC014331 mRNA. Translation: AAH14331.1 .
    CCDSi CCDS6611.1. [Q9GZS1-2 ]
    RefSeqi NP_001269695.1. NM_001282766.1.
    NP_071935.1. NM_022490.2. [Q9GZS1-2 ]
    XP_005251604.1. XM_005251547.1. [Q9GZS1-1 ]
    UniGenei Hs.591087.
    Hs.733126.

    3D structure databases

    ProteinModelPortali Q9GZS1.
    SMRi Q9GZS1. Positions 87-176.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122173. 19 interactions.
    DIPi DIP-27546N.
    IntActi Q9GZS1. 8 interactions.
    MINTi MINT-1137773.
    STRINGi 9606.ENSP00000367029.

    PTM databases

    PhosphoSitei Q9GZS1.

    Polymorphism databases

    DMDMi 62901107.

    2D gel databases

    SWISS-2DPAGE Q9GZS1.

    Proteomic databases

    MaxQBi Q9GZS1.
    PaxDbi Q9GZS1.
    PRIDEi Q9GZS1.

    Protocols and materials databases

    DNASUi 64425.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000377792 ; ENSP00000367023 ; ENSG00000137054 . [Q9GZS1-1 ]
    ENST00000377798 ; ENSP00000367029 ; ENSG00000137054 . [Q9GZS1-2 ]
    GeneIDi 64425.
    KEGGi hsa:64425.
    UCSCi uc003zzy.1. human. [Q9GZS1-2 ]
    uc003zzz.1. human. [Q9GZS1-1 ]

    Organism-specific databases

    CTDi 64425.
    GeneCardsi GC09P037486.
    HGNCi HGNC:17631. POLR1E.
    HPAi HPA022527.
    neXtProti NX_Q9GZS1.
    PharmGKBi PA142671136.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG301234.
    HOGENOMi HOG000035116.
    HOVERGENi HBG053490.
    InParanoidi Q9GZS1.
    KOi K03005.
    OMAi SGQMEVY.
    OrthoDBi EOG73NG39.
    PhylomeDBi Q9GZS1.
    TreeFami TF331685.

    Miscellaneous databases

    GeneWikii POLR1E.
    GenomeRNAii 64425.
    NextBioi 66425.
    PROi Q9GZS1.

    Gene expression databases

    ArrayExpressi Q9GZS1.
    Bgeei Q9GZS1.
    CleanExi HS_POLR1E.
    Genevestigatori Q9GZS1.

    Family and domain databases

    InterProi IPR009668. RNA_pol-assoc_fac_A49-like.
    [Graphical view ]
    Pfami PF06870. RNA_pol_I_A49. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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] (ISOFORMS 1 AND 2).
      Tissue: Placenta.
    2. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    3. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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 2), VARIANT LYS-445.
      Tissue: Cervix and Lung.
    5. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    6. "RNA polymerase I-specific subunit CAST/hPAF49 has a role in the activation of transcription by upstream binding factor."
      Panov K.I., Panova T.B., Gadal O., Nishiyama K., Saito T., Russell J., Zomerdijk J.C.B.M.
      Mol. Cell. Biol. 26:5436-5448(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION IN THE RNA POL I COMPLEX.
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-97, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-225, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiRPA49_HUMAN
    AccessioniPrimary (citable) accession number: Q9GZS1
    Secondary accession number(s): Q5VZT3, Q8NBA9, Q96L20
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 26, 2005
    Last sequence update: April 26, 2005
    Last modified: October 1, 2014
    This is version 113 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 9
      Human chromosome 9: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3