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O15160 (RPAC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 148. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:POLR1C
Synonyms:POLR1E
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length346 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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. 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.

Subunit structure

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. Ref.6

Subcellular location

Nucleus By similarity.

Involvement in disease

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. Ref.12

Sequence similarities

Belongs to the archaeal RpoD/eukaryotic RPB3 RNA polymerase subunit family.

Ontologies

Keywords
   Biological processTranscription
   Cellular componentDNA-directed RNA polymerase
Nucleus
   Coding sequence diversityAlternative splicing
   DiseaseDisease mutation
   PTMAcetylation
   Technical termComplete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological_processgene expression

Traceable author statement. Source: Reactome

innate immune response

Traceable author statement. Source: Reactome

positive regulation of type I interferon production

Traceable author statement. Source: Reactome

termination of RNA polymerase I transcription

Traceable author statement. Source: Reactome

termination of RNA polymerase III transcription

Traceable author statement. Source: Reactome

transcription elongation from RNA polymerase I promoter

Traceable author statement. Source: Reactome

transcription elongation from RNA polymerase III promoter

Traceable author statement. Source: Reactome

transcription from RNA polymerase I promoter

Traceable author statement. Source: Reactome

transcription from RNA polymerase III promoter

Traceable author statement. Source: Reactome

transcription initiation from RNA polymerase I promoter

Traceable author statement. Source: Reactome

   Cellular_componentDNA-directed RNA polymerase I complex

Traceable author statement Ref.1. Source: ProtInc

DNA-directed RNA polymerase III complex

Inferred from direct assay PubMed 24107381. Source: MGI

cytosol

Traceable author statement. Source: Reactome

nucleoplasm

Traceable author statement. Source: Reactome

   Molecular_functionDNA binding

Inferred from electronic annotation. Source: InterPro

DNA-directed RNA polymerase activity

Traceable author statement Ref.1. Source: ProtInc

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O15160-1)

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: O15160-2)

The sequence of this isoform differs from the canonical sequence as follows:
     308-346: FSVESTGVLPPDVLVSEAIKVLMGKCRRFLDELDAVQMD → CKKDLLAAVAHTCNPSTLGGQGEWITGSRERDHPG
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.5
Chain2 – 346345DNA-directed RNA polymerases I and III subunit RPAC1
PRO_0000132739

Amino acid modifications

Modified residue21N-acetylalanine Ref.5 Ref.8 Ref.10 Ref.11

Natural variations

Alternative sequence308 – 34639FSVES…AVQMD → CKKDLLAAVAHTCNPSTLGG QGEWITGSRERDHPG in isoform 2.
VSP_005913
Natural variant2791R → Q in TCS3. Ref.12
Corresponds to variant rs191582628 [ dbSNP | Ensembl ].
VAR_064899
Natural variant2791R → W in TCS3. Ref.12
VAR_064900

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 1, 1998. Version 1.
Checksum: B7D558BC8F33D92E

FASTA34639,250
        10         20         30         40         50         60 
MAASQAVEEM RSRVVLGEFG VRNVHTTDFP GNYSGYDDAW DQDRFEKNFR VDVVHMDENS 

        70         80         90        100        110        120 
LEFDMVGIDA AIANAFRRIL LAEVPTMAVE KVLVYNNTSI VQDEILAHRL GLIPIHADPR 

       130        140        150        160        170        180 
LFEYRNQGDE EGTEIDTLQF RLQVRCTRNP HAAKDSSDPN ELYVNHKVYT RHMTWIPLGN 

       190        200        210        220        230        240 
QADLFPEGTI RPVHDDILIA QLRPGQEIDL LMHCVKGIGK DHAKFSPVAT ASYRLLPDIT 

       250        260        270        280        290        300 
LLEPVEGEAA EELSRCFSPG VIEVQEVQGK KVARVANPRL DTFSREIFRN EKLKKVVRLA 

       310        320        330        340 
RVRDHYIFSV ESTGVLPPDV LVSEAIKVLM GKCRRFLDEL DAVQMD 

« Hide

Isoform 2 [UniParc].

Checksum: 9E2785123BB74D8B
Show »

FASTA34238,647

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"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]"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]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[12]"Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome."
Dauwerse J.G., Dixon J., Seland S., Ruivenkamp C.A., van Haeringen A., Hoefsloot L.H., Peters D.J., Boers A.C., Daumer-Haas C., Maiwald R., Zweier C., Kerr B., Cobo A.M., Toral J.F., Hoogeboom A.J., Lohmann D.R., Hehr U., Dixon M.J., Breuning M.H., Wieczorek D.
Nat. Genet. 43:20-22(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS TCS3 GLN-279 AND TRP-279.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF008442 mRNA. Translation: AAC14354.1.
AF047441 mRNA. Translation: AAC39892.1.
AL355802 Genomic DNA. Translation: CAI42629.1.
BC008863 mRNA. Translation: AAH08863.1.
RefSeqNP_976035.1. NM_203290.2.
XP_005249548.1. XM_005249491.1.
UniGeneHs.743509.

3D structure databases

ProteinModelPortalO15160.
SMRO15160. Positions 40-332.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114909. 49 interactions.
DIPDIP-27587N.
IntActO15160. 22 interactions.
MINTMINT-1137932.
STRING9606.ENSP00000361465.

PTM databases

PhosphoSiteO15160.

2D gel databases

REPRODUCTION-2DPAGEIPI00217386.
SWISS-2DPAGEO15160.

Proteomic databases

PaxDbO15160.
PRIDEO15160.

Protocols and materials databases

DNASU9533.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000304004; ENSP00000307212; ENSG00000171453. [O15160-2]
ENST00000372389; ENSP00000361465; ENSG00000171453. [O15160-1]
GeneID9533.
KEGGhsa:9533.
UCSCuc003ovn.3. human. [O15160-1]
uc003ovo.2. human. [O15160-2]

Organism-specific databases

CTD9533.
GeneCardsGC06P043484.
H-InvDBHIX0005907.
HGNCHGNC:20194. POLR1C.
HPAHPA031010.
MIM248390. phenotype.
610060. gene.
neXtProtNX_O15160.
Orphanet861. Treacher-Collins syndrome.
PharmGKBPA134882004.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0202.
HOGENOMHOG000230845.
HOVERGENHBG017743.
InParanoidO15160.
KOK03027.
OMAGKCQRFL.
PhylomeDBO15160.
TreeFamTF103034.

Enzyme and pathway databases

ReactomeREACT_1788. Transcription.
REACT_6900. Immune System.
REACT_71. Gene Expression.

Gene expression databases

ArrayExpressO15160.
BgeeO15160.
CleanExHS_POLR1C.
HS_POLR1E.
GenevestigatorO15160.

Family and domain databases

Gene3D2.170.120.12. 1 hit.
InterProIPR001514. 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]
PfamPF01000. RNA_pol_A_bac. 1 hit.
PF01193. RNA_pol_L. 1 hit.
[Graphical view]
SMARTSM00662. RPOLD. 1 hit.
[Graphical view]
SUPFAMSSF55257. SSF55257. 2 hits.
SSF56553. SSF56553. 1 hit.
PROSITEPS00446. RNA_POL_D_30KD. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiPOLR1C.
GenomeRNAi9533.
NextBio35740.
PROO15160.
SOURCESearch...

Entry information

Entry nameRPAC1_HUMAN
AccessionPrimary (citable) accession number: O15160
Secondary accession number(s): O75395, Q5JTE3
Entry history
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: January 1, 1998
Last modified: April 16, 2014
This is version 148 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM