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Homo sapiens polymerase (RNA) I polypeptide D, 16kDa (POLR1D), transcript variant 1, mRNA.


RefSeq Accession Definition Sequence Price Select
NM_015972 Homo sapiens polymerase (RNA) I polypeptide D, 16kDa (POLR1D), transcript variant 1, mRNA. Full Lenth $236.93
ORF Sequence $159.00


RefSeq Version NM_015972.3, 330864725
Length 817 bp
Structure linear
Update Date 30-APR-2011
Organism Homo sapiens (human)
Definition Homo sapiens polymerase (RNA) I polypeptide D, 16kDa (POLR1D), transcript variant 1, mRNA.
Product DNA-directed RNA polymerases I and III subunit RPAC2 isoform 1
Comment

Summary: The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a cause of Treacher Collins syndrome (TCS), a craniofacial development disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq].


Transcript Variant: This variant (1) represents the shortest transcript but encodes the longest isoform (1). COMPLETENESS: complete on the 3' end.

RefSeq NP_057056.1
CDS 206..607
Exon (1)1..231
Exon (2)1..231
Exon (3)232..810
Translation MEEDQELERKISGLKTSMAEGERKTALEMVQAAGTDRHCVTFVLHEEDHTLGNSLRYMIM KNPEVEFCGYTTTHPSESKINLRIQTRGTLPAVEPFQRGLNELMNVCQHVLDKFEASIKD YKDQKASRNESTF
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Position Chain Variation Link
Gene SymbolPOLR1D
Gene SynonymAC19; FLJ20616; MGC9850; POLR1C; RPA16; RPA9; RPAC2; RPC16; RPO1-3; TCS2
Chromosome13
Locus Map13q12.2
All Transcripts NM_015972 , NM_152705 , NM_001206559
Title Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome .
Author 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. and Wieczorek,D.
Journal Nat. Genet. 43 (1), 20-22 (2011)
Title Association of survival and disease progression with chromosomal instability: a genomic exploration of colorectal cancer .
Author Sheffer,M., Bacolod,M.D., Zuk,O., Giardina,S.F., Pincas,H., Barany,F., Paty,P.B., Gerald,W.L., Notterman,D.A. and Domany,E.
Journal Proc. Natl. Acad. Sci. U.S.A. 106 (17), 7131-7136 (2009)
Title Maf1, a new player in the regulation of human RNA polymerase III transcription .
Author Reina,J.H., Azzouz,T.N. and Hernandez,N.
Journal PLoS ONE 1, E134 (2006)
Title Nucleolar proteome dynamics .
Author Andersen,J.S., Lam,Y.W., Leung,A.K., Ong,S.E., Lyon,C.E., Lamond,A.I. and Mann,M.
Journal Nature 433 (7021), 77-83 (2005)
Title Rrn3 becomes inactivated in the process of ribosomal DNA transcription .
Author Hirschler-Laszkiewicz,I., Cavanaugh,A.H., Mirza,A., Lun,M., Hu,Q., Smink,T. and Rothblum,L.I.
Journal J. Biol. Chem. 278 (21), 18953-18959 (2003)
Title A kinetic framework for a mammalian RNA polymerase in vivo .
Author Dundr,M., Hoffmann-Rohrer,U., Hu,Q., Grummt,I., Rothblum,L.I., Phair,R.D. and Misteli,T.
Journal Science 298 (5598), 1623-1626 (2002)
Title Multiple interactions between RNA polymerase I, TIF-IA and TAF(I) subunits regulate preinitiation complex assembly at the ribosomal gene promoter .
Author Yuan,X., Zhao,J., Zentgraf,H., Hoffmann-Rohrer,U. and Grummt,I.
Journal EMBO Rep. 3 (11), 1082-1087 (2002)
Title Characterization of human RNA polymerase III identifies orthologues for Saccharomyces cerevisiae RNA polymerase III subunits .
Author Hu,P., Wu,S., Sun,Y., Yuan,C.C., Kobayashi,R., Myers,M.P. and Hernandez,N.
Journal Mol. Cell. Biol. 22 (22), 8044-8055 (2002)
Title Cloning and functional characterization of PTRF, a novel protein which induces dissociation of paused ternary transcription complexes .
Author Jansa,P., Mason,S.W., Hoffmann-Rohrer,U. and Grummt,I.
Journal EMBO J. 17 (10), 2855-2864 (1998)
Title Mouse RNA polymerase I 16-kDa subunit able to associate with 40-kDa subunit is a homolog of yeast AC19 subunit of RNA polymerases I and .
Author Yao,Y., Yamamoto,K., Nishi,Y., Nogi,Y. and Muramatsu,M.
Journal J. Biol. Chem. 271 (51), 32881-32885 (1996)

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