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Q9Y2S0 (RPAC2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 127. 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 RPAC2

Short name=RNA polymerases I and III subunit AC2
Alternative name(s):
AC19
DNA-directed RNA polymerase I subunit D
RNA polymerase I 16 kDa subunit
Short name=RPA16
RPC16
hRPA19
Gene names
Name:POLR1D
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length133 AA.
Sequence statusComplete.
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 core component of RNA polymerases I and III which synthesize ribosomal RNA precursors and small RNAs, such as 5S rRNA and tRNAs, respectively.

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.7

Subcellular location

Nucleus By similarity.

Involvement in disease

Treacher Collins syndrome 2 (TCS2) [MIM:613717]: 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.13

Sequence similarities

Belongs to the archaeal RpoL/eukaryotic RPB11/RPC19 RNA polymerase subunit family.

Ontologies

Keywords
   Biological processTranscription
   Cellular componentDNA-directed RNA polymerase
Nucleus
   Coding sequence diversityAlternative splicing
   DiseaseDisease mutation
   PTMAcetylation
Phosphoprotein
   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

Inferred from Biological aspect of Ancestor. Source: RefGenome

DNA-directed RNA polymerase III complex

Inferred from Biological aspect of Ancestor. Source: RefGenome

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

Inferred 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: Q9Y2S0-1)

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: Q9Y2S0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     11-133: ISGLKTSMAE...QKASRNESTF → AIEELLKEAK...DKYEKRSNRR
Note: Contains a phosphoserine at position 104.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 133133DNA-directed RNA polymerases I and III subunit RPAC2
PRO_0000149316

Amino acid modifications

Modified residue11N-acetylmethionine Ref.6 Ref.9 Ref.11 Ref.12

Natural variations

Alternative sequence11 – 133123ISGLK…NESTF → AIEELLKEAKRGKTRAETMG PMGWMKCPLASTNKRFLINT IKNTLPSHKEQDHEQKEGDK EPAKSQAQKEENPKKHRSHP YKHSFRARGSASYSPPRKRS SQDKYEKRSNRR in isoform 2.
VSP_035416
Natural variant471E → K in TCS2. Ref.13
VAR_064892
Natural variant501T → I in TCS2. Ref.13
VAR_064893
Natural variant511L → R in TCS2. Ref.13
VAR_064894
Natural variant521G → E in TCS2. Ref.13
VAR_064895
Natural variant561R → C in TCS2. Ref.13
VAR_064896
Natural variant821L → S in TCS2. Ref.13
VAR_064897
Natural variant991G → S in TCS2. Ref.13
VAR_064898

Sequences

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

Last modified November 1, 1999. Version 1.
Checksum: 715DAEF2B22B1C76

FASTA13315,237
        10         20         30         40         50         60 
MEEDQELERK ISGLKTSMAE GERKTALEMV QAAGTDRHCV TFVLHEEDHT LGNSLRYMIM 

        70         80         90        100        110        120 
KNPEVEFCGY TTTHPSESKI NLRIQTRGTL PAVEPFQRGL NELMNVCQHV LDKFEASIKD 

       130 
YKDQKASRNE STF 

« Hide

Isoform 2 [UniParc].

Checksum: F6F1FAF28BB89E3A
Show »

FASTA12214,332

References

« Hide 'large scale' references
[1]"Human RNA polymerase I 16-kDa subunit."
Ye M., Zhang Q., Fu G., Zhou J., Yu Y., Shen Y., Wu J., He K., Chen S., Mao M., Chen Z.
Submitted (JUL-1998) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"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. expand/collapse author list , 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] (ISOFORM 2).
Tissue: Cerebellum.
[3]"The DNA sequence and analysis of human chromosome 13."
Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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] (ISOFORMS 1 AND 2).
Tissue: Cervix, Colon and Eye.
[6]Bienvenut W.V., Lilla S., von Kriegsheim A., Lempens A., Kolch W.
Submitted (DEC-2008) to UniProtKB
Cited for: PROTEIN SEQUENCE OF 1-9 AND 88-98, ACETYLATION AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY.
Tissue: Ovarian carcinoma.
[7]"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.
[8]"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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-104 (ISOFORM 2), IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[9]"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 MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[10]"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].
[11]"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 MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[12]"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 MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[13]"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 TCS2 LYS-47; ILE-50; ARG-51; GLU-52; CYS-56; SER-82 AND SER-99.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF077044 mRNA. Translation: AAD27777.1.
AK311833 mRNA. Translation: BAG34775.1.
AL136439 Genomic DNA. Translation: CAI16933.1.
AL136439 Genomic DNA. Translation: CAI16934.1.
CH471075 Genomic DNA. Translation: EAX08416.1.
BC000889 mRNA. Translation: AAH00889.1.
BC015319 mRNA. Translation: AAH15319.1.
BC018528 mRNA. Translation: AAH18528.1.
CCDSCCDS9324.1. [Q9Y2S0-2]
CCDS9325.1. [Q9Y2S0-1]
RefSeqNP_001193488.1. NM_001206559.1.
NP_057056.1. NM_015972.3. [Q9Y2S0-1]
NP_689918.1. NM_152705.2. [Q9Y2S0-2]
XP_005266469.1. XM_005266412.1. [Q9Y2S0-1]
XP_005266471.1. XM_005266414.1. [Q9Y2S0-2]
UniGeneHs.507584.
Hs.735744.

3D structure databases

ProteinModelPortalQ9Y2S0.
SMRQ9Y2S0. Positions 22-119.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119272. 23 interactions.
DIPDIP-27598N.
IntActQ9Y2S0. 15 interactions.
MINTMINT-1149665.
STRING9606.ENSP00000302478.

PTM databases

PhosphoSiteQ9Y2S0.

2D gel databases

SWISS-2DPAGEQ9Y2S0.

Proteomic databases

MaxQBQ9Y2S0.
PaxDbQ9Y2S0.
PeptideAtlasQ9Y2S0.
PRIDEQ9Y2S0.

Protocols and materials databases

DNASU51082.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000302979; ENSP00000302478; ENSG00000186184. [Q9Y2S0-1]
ENST00000399696; ENSP00000382603; ENSG00000186184. [Q9Y2S0-1]
ENST00000399697; ENSP00000382604; ENSG00000186184. [Q9Y2S0-2]
GeneID51082.
KEGGhsa:51082.
UCSCuc001uro.3. human. [Q9Y2S0-1]
uc001urp.3. human. [Q9Y2S0-2]

Organism-specific databases

CTD51082.
GeneCardsGC13P028194.
GeneReviewsPOLR1D.
HGNCHGNC:20422. POLR1D.
HPAHPA039337.
MIM613715. gene.
613717. phenotype.
neXtProtNX_Q9Y2S0.
Orphanet861. Treacher-Collins syndrome.
PharmGKBPA134914527.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1761.
HOGENOMHOG000179862.
HOVERGENHBG001176.
KOK03020.
OMAPVLEMVQ.
OrthoDBEOG7J9VRX.
PhylomeDBQ9Y2S0.
TreeFamTF103035.

Enzyme and pathway databases

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

Gene expression databases

ArrayExpressQ9Y2S0.
BgeeQ9Y2S0.
CleanExHS_POLR1D.
GenevestigatorQ9Y2S0.

Family and domain databases

InterProIPR009025. RBP11-like_dimer.
IPR008193. RNA_pol_Rpb11_13-16kDa_CS.
[Graphical view]
SUPFAMSSF55257. SSF55257. 1 hit.
PROSITEPS01154. RNA_POL_L_13KD. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSPOLR1D. human.
GeneWikiPOLR1D.
GenomeRNAi51082.
NextBio53727.
PROQ9Y2S0.
SOURCESearch...

Entry information

Entry nameRPAC2_HUMAN
AccessionPrimary (citable) accession number: Q9Y2S0
Secondary accession number(s): Q5TBX2, Q96BR3
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: November 1, 1999
Last modified: July 9, 2014
This is version 127 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 13

Human chromosome 13: entries, gene names and cross-references to MIM