Q9GZS1 (RPA49_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 101.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | 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 names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 481 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | 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. |
| Subunit structure | 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. Ref.6 |
| Subcellular location | |
| Sequence similarities | Belongs to the eukaryotic RPA49/POLR1E RNA polymerase subunit family. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Transcription |
| Cellular component | DNA-directed RNA polymerase Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | rRNA transcription Inferred from sequence or structural similarity. Source: HGNC |
| Cellular_component | cell junction Inferred from direct assay. Source: HPA cytoplasmInferred from direct assay. Source: HPA nucleolusInferred from sequence or structural similarity. Source: HGNC |
| Molecular_function | DNA binding Inferred from electronic annotation. Source: InterPro DNA-directed RNA polymerase activityInferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9GZS1-1) 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. | ||||||
| Isoform 2 (identifier: Q9GZS1-2) The sequence of this isoform differs from the canonical sequence as follows: 1-87: MYQASAVSLL...LISFLGCTLT → MAAEVLPSARWQYCGAPDGSQRAVL |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 481 | 481 | DNA-directed RNA polymerase I subunit RPA49 | PRO_0000073956 | |||||
Amino acid modifications | |||||||||
| Modified residue | 97 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 225 | 1 | Phosphoserine Ref.10 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 87 | 87 | MYQAS…GCTLT → MAAEVLPSARWQYCGAPDGS QRAVL in isoform 2. | VSP_013535 | |||||
| Natural variant | 254 | 1 | D → H. Corresponds to variant rs7863488 [ dbSNP | Ensembl ]. | VAR_022372 | |||||
| Natural variant | 418 | 1 | V → M. Corresponds to variant rs7867180 [ dbSNP | Ensembl ]. | VAR_022373 | |||||
| Natural variant | 445 | 1 | R → K. Ref.4 Corresponds to variant rs10814571 [ dbSNP | Ensembl ]. | VAR_022374 | |||||
Experimental info | |||||||||
| Sequence conflict | 56 | 1 | T → A in BAC03629. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [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. 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. 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] | "Functional proteomic analysis of human nucleolus." Scherl A., Coute Y., Deon C., Calle A., Kindbeiter K., Sanchez J.-C., Greco A., Hochstrasser D.F., Diaz J.-J. Mol. Biol. Cell 13:4100-4109(2002) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY, 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] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] 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, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [9] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] 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, MASS SPECTROMETRY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | 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. |
| IPI | IPI00251989. IPI00550638. |
| RefSeq | NP_071935.1. NM_022490.1. |
| UniGene | Hs.591087. Hs.733126. |
3D structure databases | |
| ProteinModelPortal | Q9GZS1. |
| SMR | Q9GZS1. Positions 87-175. |
| ModBase | Search... |
Protein-protein interaction databases | |
| DIP | DIP-27546N. |
| IntAct | Q9GZS1. 4 interactions. |
| MINT | MINT-1137773. |
| STRING | 9606.ENSP00000367029. |
PTM databases | |
| PhosphoSite | Q9GZS1. |
Polymorphism databases | |
| DMDM | 62901107. |
2D gel databases | |
| SWISS-2DPAGE | Q9GZS1. |
Proteomic databases | |
| PaxDb | Q9GZS1. |
| PRIDE | Q9GZS1. |
Protocols and materials databases | |
| DNASU | 64425. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000377792; ENSP00000367023; ENSG00000137054. ENST00000377798; ENSP00000367029; ENSG00000137054. |
| GeneID | 64425. |
| KEGG | hsa:64425. |
| UCSC | uc003zzy.1. human. uc003zzz.1. human. |
Organism-specific databases | |
| CTD | 64425. |
| GeneCards | GC09P037486. |
| HGNC | HGNC:17631. POLR1E. |
| HPA | HPA022527. |
| neXtProt | NX_Q9GZS1. |
| PharmGKB | PA142671136. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG301234. |
| HOGENOM | HOG000035116. |
| HOVERGEN | HBG053490. |
| InParanoid | Q9GZS1. |
| KO | K03005. |
| OMA | RRMNRVG. |
| PhylomeDB | Q9GZS1. |
Gene expression databases | |
| ArrayExpress | Q9GZS1. |
| Bgee | Q9GZS1. |
| CleanEx | HS_POLR1E. |
| Genevestigator | Q9GZS1. |
| GermOnline | ENSG00000137054. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR009668. RNA_pol-assoc_fac_A49-like. [Graphical view] |
| Pfam | PF06870. RNA_pol_I_A49. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 64425. |
| NextBio | 66425. |
Entry information
| Entry name | RPA49_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9GZS1 Secondary accession number(s): Q5VZT3, Q8NBA9, Q96L20 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 9 Human chromosome 9: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| SIMILARITY comments Index of protein domains and families |

Clusters with
