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O15160

- RPAC1_HUMAN

UniProt

O15160 - RPAC1_HUMAN

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Protein
DNA-directed RNA polymerases I and III subunit RPAC1
Gene
POLR1C, POLR1E
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 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. Common component of RNA polymerases I and III which synthesize ribosomal RNA precursors and small RNAs, such as 5S rRNA and tRNAs, respectively. RPAC1 is part of the Pol core element with the central large cleft and probably a clamp element that moves to open and close the cleft By similarity.

GO - Molecular functioni

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

GO - Biological processi

  1. gene expression Source: Reactome
  2. innate immune response Source: Reactome
  3. positive regulation of type I interferon production Source: Reactome
  4. termination of RNA polymerase I transcription Source: Reactome
  5. termination of RNA polymerase III transcription Source: Reactome
  6. transcription elongation from RNA polymerase I promoter Source: Reactome
  7. transcription elongation from RNA polymerase III promoter Source: Reactome
  8. transcription from RNA polymerase I promoter Source: Reactome
  9. transcription from RNA polymerase III promoter Source: Reactome
  10. transcription initiation from RNA polymerase I promoter Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Transcription

Enzyme and pathway databases

ReactomeiREACT_1036. RNA Polymerase III Transcription Initiation From Type 2 Promoter.
REACT_1074. RNA Polymerase I Transcription Termination.
REACT_1913. RNA Polymerase I Promoter Escape.
REACT_200856. NoRC negatively regulates rRNA expression.
REACT_2204. RNA Polymerase I Chain Elongation.
REACT_22339. RNA Polymerase III Abortive And Retractive Initiation.
REACT_347. RNA Polymerase III Transcription Initiation From Type 1 Promoter.
REACT_571. RNA Polymerase III Transcription Initiation From Type 3 Promoter.
REACT_63. RNA Polymerase III Transcription Termination.
REACT_756. RNA Polymerase III Chain Elongation.
REACT_953. RNA Polymerase I Transcription Initiation.

Names & Taxonomyi

Protein namesi
Recommended name:
DNA-directed RNA polymerases I and III subunit RPAC1
Short name:
DNA-directed RNA polymerase I subunit C
Short name:
RNA polymerases I and III subunit AC1
Alternative name(s):
AC40
DNA-directed RNA polymerases I and III 40 kDa polypeptide
Short name:
RPA40
RPA39
RPC40
Gene namesi
Name:POLR1C
Synonyms:POLR1E
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:20194. POLR1C.

Subcellular locationi

Nucleus By similarity

GO - Cellular componenti

  1. DNA-directed RNA polymerase I complex Source: ProtInc
  2. DNA-directed RNA polymerase III complex Source: MGI
  3. cytosol Source: Reactome
  4. nucleoplasm Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

DNA-directed RNA polymerase, Nucleus

Pathology & Biotechi

Involvement in diseasei

Treacher Collins syndrome 3 (TCS3) [MIM:248390]: A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti279 – 2791R → Q in TCS3. 1 Publication
Corresponds to variant rs191582628 [ dbSNP | Ensembl ].
VAR_064899
Natural varianti279 – 2791R → W in TCS3. 1 Publication
VAR_064900

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi248390. phenotype.
Orphaneti861. Treacher-Collins syndrome.
PharmGKBiPA134882004.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 346345DNA-directed RNA polymerases I and III subunit RPAC1
PRO_0000132739Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine4 Publications

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiO15160.
PaxDbiO15160.
PRIDEiO15160.

2D gel databases

REPRODUCTION-2DPAGEIPI00217386.
SWISS-2DPAGEO15160.

PTM databases

PhosphoSiteiO15160.

Expressioni

Gene expression databases

ArrayExpressiO15160.
BgeeiO15160.
CleanExiHS_POLR1C.
HS_POLR1E.
GenevestigatoriO15160.

Organism-specific databases

HPAiHPA031010.

Interactioni

Subunit structurei

Component of the RNA polymerase I (Pol I) and RNA polymerase III (Pol III) complexes consisting of at least 13 and 17 subunits, respectively By similarity.1 Publication

Protein-protein interaction databases

BioGridi114909. 49 interactions.
DIPiDIP-27587N.
IntActiO15160. 22 interactions.
MINTiMINT-1137932.
STRINGi9606.ENSP00000361465.

Structurei

3D structure databases

ProteinModelPortaliO15160.
SMRiO15160. Positions 40-332.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG0202.
HOGENOMiHOG000230845.
HOVERGENiHBG017743.
InParanoidiO15160.
KOiK03027.
OMAiGKCQRFL.
PhylomeDBiO15160.
TreeFamiTF103034.

Family and domain databases

Gene3Di2.170.120.12. 1 hit.
InterProiIPR001514. DNA-dir_RNA_pol_30-40kDasu_CS.
IPR011262. DNA-dir_RNA_pol_insert.
IPR011263. DNA-dir_RNA_pol_RpoA/D/Rpb3.
IPR009025. RBP11-like_dimer.
[Graphical view]
PfamiPF01000. RNA_pol_A_bac. 1 hit.
PF01193. RNA_pol_L. 1 hit.
[Graphical view]
SMARTiSM00662. RPOLD. 1 hit.
[Graphical view]
SUPFAMiSSF55257. SSF55257. 2 hits.
SSF56553. SSF56553. 1 hit.
PROSITEiPS00446. RNA_POL_D_30KD. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O15160-1) [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

MAASQAVEEM RSRVVLGEFG VRNVHTTDFP GNYSGYDDAW DQDRFEKNFR    50
VDVVHMDENS LEFDMVGIDA AIANAFRRIL LAEVPTMAVE KVLVYNNTSI 100
VQDEILAHRL GLIPIHADPR LFEYRNQGDE EGTEIDTLQF RLQVRCTRNP 150
HAAKDSSDPN ELYVNHKVYT RHMTWIPLGN QADLFPEGTI RPVHDDILIA 200
QLRPGQEIDL LMHCVKGIGK DHAKFSPVAT ASYRLLPDIT LLEPVEGEAA 250
EELSRCFSPG VIEVQEVQGK KVARVANPRL DTFSREIFRN EKLKKVVRLA 300
RVRDHYIFSV ESTGVLPPDV LVSEAIKVLM GKCRRFLDEL DAVQMD 346
Length:346
Mass (Da):39,250
Last modified:January 1, 1998 - v1
Checksum:iB7D558BC8F33D92E
GO
Isoform 2 (identifier: O15160-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     308-346: FSVESTGVLPPDVLVSEAIKVLMGKCRRFLDELDAVQMD → CKKDLLAAVAHTCNPSTLGGQGEWITGSRERDHPG

Note: No experimental confirmation available.

Show »
Length:342
Mass (Da):38,647
Checksum:i9E2785123BB74D8B
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti279 – 2791R → Q in TCS3. 1 Publication
Corresponds to variant rs191582628 [ dbSNP | Ensembl ].
VAR_064899
Natural varianti279 – 2791R → W in TCS3. 1 Publication
VAR_064900

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei308 – 34639FSVES…AVQMD → CKKDLLAAVAHTCNPSTLGG QGEWITGSRERDHPG in isoform 2.
VSP_005913Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF008442 mRNA. Translation: AAC14354.1.
AF047441 mRNA. Translation: AAC39892.1.
AL355802 Genomic DNA. Translation: CAI42629.1.
BC008863 mRNA. Translation: AAH08863.1.
CCDSiCCDS4901.1. [O15160-1]
RefSeqiNP_976035.1. NM_203290.2. [O15160-1]
XP_005249548.1. XM_005249491.1. [O15160-2]
UniGeneiHs.743509.

Genome annotation databases

EnsembliENST00000304004; ENSP00000307212; ENSG00000171453. [O15160-2]
ENST00000372389; ENSP00000361465; ENSG00000171453. [O15160-1]
GeneIDi9533.
KEGGihsa:9533.
UCSCiuc003ovn.3. human. [O15160-1]
uc003ovo.2. human. [O15160-2]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF008442 mRNA. Translation: AAC14354.1 .
AF047441 mRNA. Translation: AAC39892.1 .
AL355802 Genomic DNA. Translation: CAI42629.1 .
BC008863 mRNA. Translation: AAH08863.1 .
CCDSi CCDS4901.1. [O15160-1 ]
RefSeqi NP_976035.1. NM_203290.2. [O15160-1 ]
XP_005249548.1. XM_005249491.1. [O15160-2 ]
UniGenei Hs.743509.

3D structure databases

ProteinModelPortali O15160.
SMRi O15160. Positions 40-332.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114909. 49 interactions.
DIPi DIP-27587N.
IntActi O15160. 22 interactions.
MINTi MINT-1137932.
STRINGi 9606.ENSP00000361465.

PTM databases

PhosphoSitei O15160.

2D gel databases

REPRODUCTION-2DPAGE IPI00217386.
SWISS-2DPAGE O15160.

Proteomic databases

MaxQBi O15160.
PaxDbi O15160.
PRIDEi O15160.

Protocols and materials databases

DNASUi 9533.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000304004 ; ENSP00000307212 ; ENSG00000171453 . [O15160-2 ]
ENST00000372389 ; ENSP00000361465 ; ENSG00000171453 . [O15160-1 ]
GeneIDi 9533.
KEGGi hsa:9533.
UCSCi uc003ovn.3. human. [O15160-1 ]
uc003ovo.2. human. [O15160-2 ]

Organism-specific databases

CTDi 9533.
GeneCardsi GC06P043484.
GeneReviewsi POLR1C.
H-InvDB HIX0005907.
HGNCi HGNC:20194. POLR1C.
HPAi HPA031010.
MIMi 248390. phenotype.
610060. gene.
neXtProti NX_O15160.
Orphaneti 861. Treacher-Collins syndrome.
PharmGKBi PA134882004.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0202.
HOGENOMi HOG000230845.
HOVERGENi HBG017743.
InParanoidi O15160.
KOi K03027.
OMAi GKCQRFL.
PhylomeDBi O15160.
TreeFami TF103034.

Enzyme and pathway databases

Reactomei REACT_1036. RNA Polymerase III Transcription Initiation From Type 2 Promoter.
REACT_1074. RNA Polymerase I Transcription Termination.
REACT_1913. RNA Polymerase I Promoter Escape.
REACT_200856. NoRC negatively regulates rRNA expression.
REACT_2204. RNA Polymerase I Chain Elongation.
REACT_22339. RNA Polymerase III Abortive And Retractive Initiation.
REACT_347. RNA Polymerase III Transcription Initiation From Type 1 Promoter.
REACT_571. RNA Polymerase III Transcription Initiation From Type 3 Promoter.
REACT_63. RNA Polymerase III Transcription Termination.
REACT_756. RNA Polymerase III Chain Elongation.
REACT_953. RNA Polymerase I Transcription Initiation.

Miscellaneous databases

GeneWikii POLR1C.
GenomeRNAii 9533.
NextBioi 35740.
PROi O15160.
SOURCEi Search...

Gene expression databases

ArrayExpressi O15160.
Bgeei O15160.
CleanExi HS_POLR1C.
HS_POLR1E.
Genevestigatori O15160.

Family and domain databases

Gene3Di 2.170.120.12. 1 hit.
InterProi IPR001514. DNA-dir_RNA_pol_30-40kDasu_CS.
IPR011262. DNA-dir_RNA_pol_insert.
IPR011263. DNA-dir_RNA_pol_RpoA/D/Rpb3.
IPR009025. RBP11-like_dimer.
[Graphical view ]
Pfami PF01000. RNA_pol_A_bac. 1 hit.
PF01193. RNA_pol_L. 1 hit.
[Graphical view ]
SMARTi SM00662. RPOLD. 1 hit.
[Graphical view ]
SUPFAMi SSF55257. SSF55257. 2 hits.
SSF56553. SSF56553. 1 hit.
PROSITEi PS00446. RNA_POL_D_30KD. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and characterization of the human RNA polymerase I subunit hRPA40."
    Dammann R., Pfeifer G.P.
    Biochim. Biophys. Acta 1396:153-157(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning."
    Mao M., Fu G., Wu J.-S., Zhang Q.-H., Zhou J., Kan L.-X., Huang Q.-H., He K.-L., Gu B.-W., Han Z.-G., Shen Y., Gu J., Yu Y.-P., Xu S.-H., Wang Y.-X., Chen S.-J., Chen Z.
    Proc. Natl. Acad. Sci. U.S.A. 95:8175-8180(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Umbilical cord blood.
  3. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [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 1).
    Tissue: Brain.
  5. Bienvenut W.V., Lilla S., von Kriegsheim A., Lempens A., Kolch W.
    Submitted (DEC-2008) to UniProtKB
    Cited for: PROTEIN SEQUENCE OF 2-11; 14-22; 79-91; 110-120; 155-167 AND 225-255, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY.
    Tissue: Ovarian carcinoma.
  6. "Characterization of human RNA polymerase III identifies orthologues for Saccharomyces cerevisiae RNA polymerase III subunits."
    Hu P., Wu S., Sun Y., Yuan C.-C., Kobayashi R., Myers M.P., Hernandez N.
    Mol. Cell. Biol. 22:8044-8055(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN THE RNA POL III COMPLEX, IDENTIFICATION BY MASS SPECTROMETRY.
  7. "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells."
    Rush J., Moritz A., Lee K.A., Guo A., Goss V.L., Spek E.J., Zhang H., Zha X.-M., Polakiewicz R.D., Comb M.J.
    Nat. Biotechnol. 23:94-101(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
    Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
    Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  11. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  12. Cited for: VARIANTS TCS3 GLN-279 AND TRP-279.

Entry informationi

Entry nameiRPAC1_HUMAN
AccessioniPrimary (citable) accession number: O15160
Secondary accession number(s): O75395, Q5JTE3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: January 1, 1998
Last modified: September 3, 2014
This is version 151 of the entry and version 1 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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