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


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu16733 Homo sapiens polymerase (RNA) I polypeptide D, 16kDa (POLR1D), transcript variant 1, mRNA. pcDNA3.1+-DYK In-stock $99.00 5-7
OHu16733C Homo sapiens polymerase (RNA) I polypeptide D, 16kDa (POLR1D), transcript variant 1, mRNA. Customized vector In-stock $149.00 5-7

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Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_015972.3, 330864725
Length 402 bp
Structure linear
Update Date 20-APR-2014
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)323..>415
Misc Feature(5)order(335..337,350..358,362..364,377..379,419..421,
Misc Feature(6)order(350..352,425..430)
Misc Feature(7)order(371..373,404..406,410..418,422..430)
Misc Feature(8)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
156+c, gdbSNP:376899179
166+c, tdbSNP:375008435
179+a, cdbSNP:200891022
185+a, gdbSNP:2232680
211+a, tdbSNP:376051642
271+dbSNP:
271+a, gdbSNP:151041219
283+c, tdbSNP:372189960
365+g, tdbSNP:142365486
382+c, tdbSNP:144597856
391+a, cdbSNP:376583398
394+a, gdbSNP:201796232
400+a, gdbSNP:147916084
421+a, gdbSNP:186446705
425+c, tdbSNP:267603793
461+a, gdbSNP:111804506
462+c, tdbSNP:141637770
466+a, gdbSNP:7334726
473+c, tdbSNP:373946311
534+c, tdbSNP:138256149
539+g, tdbSNP:149222191
544+a, gdbSNP:377050034
554+a, gdbSNP:143410332
628+c, gdbSNP:376204257
637+a, cdbSNP:8459
complement(656)-g, adbSNP: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_015972 Homo sapiens polymerase (RNA) I polypeptide D, 16kDa (POLR1D), transcript variant 1, mRNA. In-stock $99.00 5-7
NM_015972 Homo sapiens polymerase (RNA) I polypeptide D, 16kDa (POLR1D), transcript variant 1, mRNA. In-stock $99.00 5-7
NM_015972 Homo sapiens polymerase (RNA) I polypeptide D, 16kDa (POLR1D), transcript variant 1, mRNA. In-stock $99.00 5-7
NM_015972 Homo sapiens polymerase (RNA) I polypeptide D, 16kDa (POLR1D), transcript variant 1, mRNA. In-stock $99.00 5-7
NM_015972 Homo sapiens polymerase (RNA) I polypeptide D, 16kDa (POLR1D), transcript variant 1, mRNA. In-stock $99.00 5-7
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 SY, 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 JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A, Hoefsloot LH, Peters DJ, Boers AC, Daumer-Haas C, Maiwald R, Zweier C, Kerr B, Cobo AM, Toral JF, Hoogeboom AJ, Lohmann DR, Hehr U, Dixon MJ, Breuning MH 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 MD, Zuk O, Giardina SF, Pincas H, Barany F, Paty PB, Gerald WL, Notterman DA 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 JH, Azzouz TN and Hernandez N.
Journal PLoS ONE 1, E134 (2006)
Title Nucleolar proteome dynamics .
Author Andersen JS, Lam YW, Leung AK, Ong SE, Lyon CE, Lamond AI and Mann M.
Journal Nature 433 (7021), 77-83 (2005)
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 CC, Kobayashi R, Myers MP 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 SW, 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)
Title Treacher Collins Syndrome .
Author Katsanis,S.H. and Jabs,E.W.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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