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Q9GZS1

- RPA49_HUMAN

UniProt

Q9GZS1 - RPA49_HUMAN

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Protein
DNA-directed RNA polymerase I subunit RPA49
Gene
POLR1E, PAF53, PRAF1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

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.

GO - Molecular functioni

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

GO - Biological processi

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

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
Complete GO annotation...

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 RPA49
PRO_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-2DPAGEiQ9GZS1.

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.1 Publication

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.

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

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.
VSP_013535Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti56 – 561T → A in BAC03629. 1 Publication

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...

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-2DPAGEi 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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 112 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

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