Q9Y2S0 (RPAC2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	133 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. 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.10
Sequence similarities	Belongs to the archaeal RpoL/eukaryotic RPB11/RPC19 RNA polymerase subunit family.

Ontologies

Keywords
Biological process	Transcription
Cellular component	DNA-directed RNA polymerase Nucleus
Coding sequence diversity	Alternative splicing
Disease	Disease mutation
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	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 initiation from RNA polymerase I promoter Traceable author statement. Source: Reactome
Cellular_component	DNA-directed RNA polymerase I complex Inferred from electronic annotation. Source: Compara nucleoplasm Traceable author statement. Source: Reactome
Molecular_function	DNA 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 133	133	DNA-directed RNA polymerases I and III subunit RPAC2		PRO_0000149316
Amino acid modifications
	Modified residue	1	1	N-acetylmethionine Ref.6
Natural variations
	Alternative sequence	11 – 133	123	ISGLK…NESTF → AIEELLKEAKRGKTRAETMG PMGWMKCPLASTNKRFLINT IKNTLPSHKEQDHEQKEGDK EPAKSQAQKEENPKKHRSHP YKHSFRARGSASYSPPRKRS SQDKYEKRSNRR in isoform 2.		VSP_035416
	Natural variant	47	1	E → K in TCS2. Ref.10		VAR_064892
	Natural variant	50	1	T → I in TCS2. Ref.10		VAR_064893
	Natural variant	51	1	L → R in TCS2. Ref.10		VAR_064894
	Natural variant	52	1	G → E in TCS2. Ref.10		VAR_064895
	Natural variant	56	1	R → C in TCS2. Ref.10		VAR_064896
	Natural variant	82	1	L → S in TCS2. Ref.10		VAR_064897
	Natural variant	99	1	G → S in TCS2. Ref.10		VAR_064898

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 1, 1999. Version 1. Checksum: 715DAEF2B22B1C76	FASTA	133	15,237
	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
	Isoform 2 [UniParc]. Checksum: F6F1FAF28BB89E3A	FASTA	122	14,332
	10 20 30 40 50 60 MEEDQELERK AIEELLKEAK RGKTRAETMG PMGWMKCPLA STNKRFLINT IKNTLPSHKE 70 80 90 100 110 120 QDHEQKEGDK EPAKSQAQKE ENPKKHRSHP YKHSFRARGS ASYSPPRKRS SQDKYEKRSN RR

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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, 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, 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), 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]	"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.
IPI	IPI00032439. IPI00643892.
RefSeq	NP_001193488.1. NM_001206559.1. NP_057056.1. NM_015972.3. NP_689918.1. NM_152705.2.
UniGene	Hs.507584. Hs.735744.
3D structure databases
ProteinModelPortal	Q9Y2S0.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-27598N.
IntAct	Q9Y2S0. 13 interactions.
MINT	MINT-1149665.
STRING	9606.ENSP00000302478.
PTM databases
PhosphoSite	Q9Y2S0.
Polymorphism databases
DMDM	11387119.
2D gel databases
SWISS-2DPAGE	Q9Y2S0.
Proteomic databases
PaxDb	Q9Y2S0.
PeptideAtlas	Q9Y2S0.
PRIDE	Q9Y2S0.
Protocols and materials databases
DNASU	51082.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000302979; ENSP00000302478; ENSG00000186184. ENST00000399696; ENSP00000382603; ENSG00000186184. ENST00000399697; ENSP00000382604; ENSG00000186184.
GeneID	51082.
KEGG	hsa:51082.
UCSC	uc001uro.3. human. uc001urp.3. human.
Organism-specific databases
CTD	51082.
GeneCards	GC13P028194.
HGNC	HGNC:20422. POLR1D.
HPA	HPA039337.
MIM	613715. gene. 613717. phenotype.
neXtProt	NX_Q9Y2S0.
Orphanet	861. Treacher-Collins syndrome.
PharmGKB	PA134914527.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1761.
HOGENOM	HOG000179862.
HOVERGEN	HBG001176.
KO	K03020.
OMA	EPFRKGL.
OrthoDB	EOG4WSWBZ.
PhylomeDB	Q9Y2S0.
Enzyme and pathway databases
Reactome	REACT_1788. Transcription. REACT_71. Gene Expression.
Gene expression databases
ArrayExpress	Q9Y2S0.
Bgee	Q9Y2S0.
CleanEx	HS_POLR1D.
Genevestigator	Q9Y2S0.
GermOnline	ENSG00000186184. Homo sapiens.
Family and domain databases
InterPro	IPR009025. DNA-dir_RNA_pol_RBP11-like. IPR008193. RNA_pol_Rpb11_13-16kDa_CS. [Graphical view]
SUPFAM	SSF55257. RNAP_RBP11-like. 1 hit.
PROSITE	PS01154. RNA_POL_L_13KD. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	POLR1D. human.
GenomeRNAi	51082.
NextBio	53727.
SOURCE	Search...

Entry information

Entry name

RPAC2_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 116 of the entry and version 1 of the sequence. [Complete history]

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.