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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_015972 Homo sapiens polymerase (RNA) I polypeptide D, 16kDa (POLR1D), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $248.00 $199.00 10

*Business Day

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RefSeq Version NM_015972.3, 330864725
Length 817 bp
Structure linear
Update Date 17-APR-2013
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, Apr 2011].


Transcript Variant: This variant (1) represents the shortest transcript but encodes the longest isoform (1).

RefSeq NP_057056.1
CDS 206..607
Misc Feature(1)206..208
Misc Feature(2)206..208
Misc Feature(3)293..547
Misc Feature(4)order(335..337,350..358,362..364,377..379,419..421,
Misc Feature(5)order(350..352,425..430)
Misc Feature(6)order(371..373,404..406,410..418,422..430)
Misc Feature(7)401..403
Exon (1)1..231
Gene:POLR1D
Gene Synonym:AC19; POLR1C; RPA16; RPA9; RPAC2; RPC16; RPO1-3; TCS2
Exon (2)232..810
Gene:POLR1D
Gene Synonym:AC19; POLR1C; RPA16; RPA9; RPAC2; RPC16; RPO1-3; TCS2
Translation MEEDQELERKISGLKTSMAEGERKTALEMVQAAGTDRHCVTFVLHEEDHTLGNSLRYMIM KNPEVEFCGYTTTHPSESKINLRIQTRGTLPAVEPFQRGLNELMNVCQHVLDKFEASIKD YKDQKASRNESTF
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Position Chain Variation Link
46+dbSNP:
46+c, tdbSNP:12875930
57+c, tdbSNP:2232676
64+c, tdbSNP:12875939
96+a, cdbSNP:2232677
99+c, tdbSNP:2232678
118+c, gdbSNP:2232679
179+a, cdbSNP:200891022
185+a, gdbSNP:2232680
239+dbSNP:
239+c, tdbSNP:142664717
271+a, gdbSNP:151041219
365+g, tdbSNP:142365486
382+c, tdbSNP:144597856
394+a, gdbSNP:201796232
400+a, gdbSNP:147916084
421+a, gdbSNP:186446705
461+a, gdbSNP:111804506
462+c, tdbSNP:141637770
466+a, gdbSNP:7334726
534+c, tdbSNP:138256149
539+g, tdbSNP:149222191
554+a, gdbSNP:143410332
637+a, cdbSNP:8459
656+a, gdbSNP:7097
719+c, tdbSNP:138090002
754+a, gdbSNP:190867386
768+c, tdbSNP:116927792
Gene SymbolPOLR1D
Gene SynonymAC19; POLR1C; RPA16; RPA9; RPAC2; RPC16; RPO1-3; TCS2
Chromosome13
Locus Map13q12.2
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001206559 Homo sapiens polymerase (RNA) I polypeptide D, 16kDa (POLR1D), transcript variant 3, mRNA. In-stock $248.00 $199.00 10
NM_015972 Homo sapiens polymerase (RNA) I polypeptide D, 16kDa (POLR1D), transcript variant 1, mRNA. In-stock $248.00 $199.00 10
NM_152705 Homo sapiens polymerase (RNA) I polypeptide D, 16kDa (POLR1D), transcript variant 2, mRNA. In-stock $248.00 $199.00 10
Title Common variants on 14q32 and 13q12 are associated with DLBCL susceptibility .
Author Kumar,V., Matsuo,K., Takahashi,A., Hosono,N., Tsunoda,T., Kamatani,N., Kong,S.Y., Nakagawa,H., Cui,R., Tanikawa,C., Seto,M., Morishima,Y., Kubo,M., Nakamura,Y. and Matsuda,K.
Journal J. Hum. Genet. 56 (6), 436-439 (2011)
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 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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