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Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_018082 Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $1699.00 25

*Business Day

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RefSeq Version NM_018082.5, 238908502
Length 4286 bp
Structure linear
Update Date 25-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.
Product DNA-directed RNA polymerase III subunit RPC2 isoform 1
Comment

Summary: This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011].


Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

RefSeq NP_060552.4
CDS 223..3624
Misc Feature(1)100..102
Misc Feature(2)298..3609
Misc Feature(3)298..3609
Misc Feature(4)337..3603
Misc Feature(5)order(535..537,2524..2526,2650..2652,2656..2658,
Misc Feature(6)order(1621..1623,1627..1635,1639..1641,1648..1650,
Misc Feature(7)1837..2022
Misc Feature(8)2083..2205
Misc Feature(9)order(2368..2373,2434..2436,2440..2442,2503..2505,
Misc Feature(10)order(2467..2469,2509..2511,2956..2958,3199..3201)
Misc Feature(11)order(2509..2514,2524..2526,2878..2880,2884..2886,
Exon (1)1..294
Gene:POLR3B
Gene Synonym:C128; HLD8; RPC2
Exon (2)295..327
Gene:POLR3B
Gene Synonym:C128; HLD8; RPC2
Exon (3)328..384
Gene:POLR3B
Gene Synonym:C128; HLD8; RPC2
Exon (4)385..449
Gene:POLR3B
Gene Synonym:C128; HLD8; RPC2
Exon (5)450..525
Gene:POLR3B
Gene Synonym:C128; HLD8; RPC2
Exon (6)526..626
Gene:POLR3B
Gene Synonym:C128; HLD8; RPC2
Exon (7)627..718
Gene:POLR3B
Gene Synonym:C128; HLD8; RPC2
Exon (8)719..836
Gene:POLR3B
Gene Synonym:C128; HLD8; RPC2
Exon (9)837..945
Gene:POLR3B
Gene Synonym:C128; HLD8; RPC2
Exon (10)946..1068
Gene:POLR3B
Gene Synonym:C128; HLD8; RPC2
Exon (11)1069..1188
Gene:POLR3B
Gene Synonym:C128; HLD8; RPC2
Exon (12)1189..1323
Gene:POLR3B
Gene Synonym:C128; HLD8; RPC2
Exon (13)1324..1485
Gene:POLR3B
Gene Synonym:C128; HLD8; RPC2
Exon (14)1486..1686
Gene:POLR3B
Gene Synonym:C128; HLD8; RPC2
Exon (15)1687..1849
Gene:POLR3B
Gene Synonym:C128; HLD8; RPC2
Exon (16)1850..2003
Gene:POLR3B
Gene Synonym:C128; HLD8; RPC2
Exon (17)2004..2078
Gene:POLR3B
Gene Synonym:C128; HLD8; RPC2
Exon (18)2079..2177
Gene:POLR3B
Gene Synonym:C128; HLD8; RPC2
Exon (19)2178..2305
Gene:POLR3B
Gene Synonym:C128; HLD8; RPC2
Exon (20)2306..2515
Gene:POLR3B
Gene Synonym:C128; HLD8; RPC2
Exon (21)2516..2674
Gene:POLR3B
Gene Synonym:C128; HLD8; RPC2
Exon (22)2675..2792
Gene:POLR3B
Gene Synonym:C128; HLD8; RPC2
Exon (23)2793..2935
Gene:POLR3B
Gene Synonym:C128; HLD8; RPC2
Exon (24)2936..3039
Gene:POLR3B
Gene Synonym:C128; HLD8; RPC2
Exon (25)3040..3206
Gene:POLR3B
Gene Synonym:C128; HLD8; RPC2
Exon (26)3207..3320
Gene:POLR3B
Gene Synonym:C128; HLD8; RPC2
Exon (27)3321..3494
Gene:POLR3B
Gene Synonym:C128; HLD8; RPC2
Exon (28)3495..4273
Gene:POLR3B
Gene Synonym:C128; HLD8; RPC2
Translation MDVLAEEFGNLTPEQLAAPIPTVEEKWRLLPAFLKVKGLVKQHIDSFNYFINVEIKKIMK ANEKVTSDADPMWYLKYLNIYVGLPDVEESFNVTRPVSPHECRLRDMTYSAPITVDIEYT RGSQRIIRNALPIGRMPIMLRSSNCVLTGKTPAEFAKLNECPLDPGGYFIVKGVEKVILI QEQLSKNRIIVEADRKGAVGASVTSSTHEKKSRTNMAVKQGRFYLRHNTLSEDIPIVIIF KAMGVESDQEIVQMIGTEEHVMAAFGPSLEECQKAQIFTQMQALKYIGNKVRRQRMWGGG PKKTKIEEARELLASTILTHVPVKEFNFRAKCIYTAVMVRRVILAQGDNKVDDRDYYGNK RLELAGQLLSLLFEDLFKKFNSEMKKIADQVIPKQRAAQFDVVKHMRQDQITNGMVNAIS TGNWSLKRFKMDRQGVTQVLSRLSYISALGMMTRISSQFEKTRKVSGPRSLQPSQWGMLC PSDTPEGEACGLVKNLALMTHITTDMEDGPIVKLASNLGVEDVNLLCGEELSYPNVFLVF LNGNILGVIRDHKKLVNTFRLMRRAGYINEFVSISTNLTDRCVYISSDGGRLCRPYIIVK KQKPAVTNKHMEELAQGYRNFEDFLHESLVEYLDVNEENDCNIALYEHTINKDTTHLEIE PFTLLGVCAGLIPYPHHNQSPRNTYQCAMGKQAMGTIGYNQRNRIDTLMYLLAYPQKPMV KTKTIELIEFEKLPAGQNATVAVMSYSGYDIEDALVLNKASLDRGFGRCLVYKNAKCTLK RYTNQTFDKVMGPMLDAATRKPIWRHEILDADGICSPGEKVENKQVLVNKSMPTVTQIPL EGSNVPQQPQYKDVPITYKGATDSYIEKVMISSNAEDAFLIKMLLRQTRRPEIGDKFSSR HGQKGVCGLIVPQEDMPFCDSGICPDIIMNPHGFPSRMTVGKLIELLAGKAGVLDGRFHY GTAFGGSKVKDVCEDLVRHGYNYLGKDYVTSGITGEPLEAYIYFGPVYYQKLKHMVLDKM HARARGPRAVLTRQPTEGRSRDGGLRLGEMERDCLIGYGASMLLLERLMISSDAFEVDVC GQCGLLGYSGWCHYCKSSCHVSSLRIPYACKLLFQELQSMNIIPRLKLSKYNE
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Position Chain Variation Link
33+dbSNP:
33+a, gdbSNP:148597447
50+c, tdbSNP:73186443
128+c, tdbSNP:17219334
143+a, gdbSNP:377009599
148..149+, gdbSNP:372941570
165+c, tdbSNP:371977477
180+a, gdbSNP:376558060
184+c, gdbSNP:140312606
186+g, tdbSNP:373418815
203+c, tdbSNP:373504825
222+c, tdbSNP:117873765
236+a, gdbSNP:386471768
236+c, tdbSNP:144172154
253+c, tdbSNP:377586797
283+c, tdbSNP:370286625
432+dbSNP:
432+c, tdbSNP:368827027
452+dbSNP:
452+a, gdbSNP:376800357
497+a, gdbSNP:369375037
538+dbSNP:
538+a, gdbSNP:369178623
564+a, gdbSNP:372178891
604+c, tdbSNP:369609747
621+c, tdbSNP:147328031
656+dbSNP:
656+a, gdbSNP:139443783
665+c, gdbSNP:373170094
674+c, tdbSNP:145075371
675+a, gdbSNP:376395471
691+a, gdbSNP:369977235
706+c, gdbSNP:373099408
759+dbSNP:
759+c, tdbSNP:113468238
765+a, cdbSNP:201182565
833+c, tdbSNP:147582475
874+dbSNP:
874+g, tdbSNP:371141763
875+g, tdbSNP:79802610
933+a, cdbSNP:201300488
934+a, tdbSNP:199892569
953+dbSNP:
953+g, tdbSNP:199782156
985+a, gdbSNP:140433171
993+a, tdbSNP:201822852
995+a, cdbSNP:117911920
1003+a, gdbSNP:201440861
1057+a, tdbSNP:368961144
1086+dbSNP:
1086+a, gdbSNP:376166938
1145+a, cdbSNP:193156019
1147+a, gdbSNP:369488769
1166+c, tdbSNP:373723723
1171+a, gdbSNP:376426432
1182..1183+, ccagdbSNP:367995157
1193+dbSNP:
1193+a, gdbSNP:201270085
1197+a, gdbSNP:145542203
1201+a, tdbSNP:200042871
1240+c, tdbSNP:148879912
1246+a, gdbSNP:370376465
1278+c, tdbSNP:143599158
1324+dbSNP:
1324+a, gdbSNP:201079775
1335+c, tdbSNP:141885523
1410+a, gdbSNP:200803445
1452+c, gdbSNP:375986407
1466+c, tdbSNP:199504211
1482+c, tdbSNP:371496625
1485+a, cdbSNP:367607316
1547+dbSNP:
1547+g, tdbSNP:201153027
1554+a, gdbSNP:145020083
1566+a, gdbSNP:138822077
1569+a, gdbSNP:193106695
1590+c, tdbSNP:140483599
1600+g, tdbSNP:370169112
1623+a, tdbSNP:74390456
1730+dbSNP:
1730+a, cdbSNP:267608683
1755+, tdbSNP:267608684
1790+a, tdbSNP:138249161
1824+a, gdbSNP:200983703
1870+dbSNP:
1870+c, tdbSNP:267608688
1911+a, gdbSNP:200865877
1924+a, gdbSNP:35983209
1929+c, tdbSNP:17038450
1942+a, gdbSNP:200126234
1998+a, tdbSNP:201223367
2011+dbSNP:
2011+a, gdbSNP:147324507
2095+dbSNP:
2095+c, tdbSNP:139376910
2160+a, cdbSNP:143400457
2180+dbSNP:
2180+a, tdbSNP:144161033
2183+c, tdbSNP:200782069
2193+a, gdbSNP:148613297
2196+a, gdbSNP:201895619
2198+c, tdbSNP:142094821
2220+c, tdbSNP:369468138
2265+a, gdbSNP:372517855
2274+c, tdbSNP:376791688
2277+c, tdbSNP:10861607
2326+dbSNP:
2326+c, tdbSNP:201401034
2358+a, gdbSNP:139146614
2383+a, tdbSNP:374359855
2401+c, tdbSNP:375960295
2430+a, tdbSNP:200497639
2440+a, gdbSNP:17038460
2476+g, tdbSNP:201716779
2476+g, tdbSNP:386456569
2481+c, tdbSNP:199743272
2500+g, tdbSNP:146513209
2524+dbSNP:
2524+c, tdbSNP:371453512
2525+a, gdbSNP:267608687
2555+c, tdbSNP:375480706
2556+a, gdbSNP:150800622
2584+c, gdbSNP:143507316
2608+a, gdbSNP:368613977
2629+a, gdbSNP:372387469
2636+a, gdbSNP:146772688
2643+a, gdbSNP:377149913
2685+dbSNP:
2685+a, gdbSNP:34681274
2708+a, gdbSNP:200502989
2723+c, tdbSNP:148931372
2795+dbSNP:
2795+a, gdbSNP:113715233
2837+c, gdbSNP:369017509
2854+a, gdbSNP:201627534
2908+a, tdbSNP:267608685
2915+a, gdbSNP:143703583
2949+dbSNP:
2949+g, tdbSNP:201781254
3000+c, gdbSNP:267608689
3013+c, gdbSNP:373101426
3018+c, tdbSNP:141030994
3042+dbSNP:
3042+g, tdbSNP:139255984
3069+c, tdbSNP:373826323
3076+a, gdbSNP:201465114
3087+c, tdbSNP:143284189
3095+g, tdbSNP:368515122
3099+c, tdbSNP:148708579
3121+a, cdbSNP:200865021
3127+a, gdbSNP:200477676
3151+a, gdbSNP:199545845
3155+a, gdbSNP:117293015
3160+a, gdbSNP:199865077
3165+c, tdbSNP:372059822
3166+a, gdbSNP:368213717
3182+a, cdbSNP:138378720
3185+a, gdbSNP:149257714
3190+a, gdbSNP:372036820
3210+dbSNP:
3210+a, gdbSNP:144485339
3230+a, gdbSNP:368953286
3237+c, tdbSNP:148438504
3240+c, tdbSNP:373346251
3241+g, tdbSNP:375472185
3273+a, gdbSNP:144051136
3288+a, cdbSNP:145991322
3294+c, tdbSNP:369730210
3324+dbSNP:
3324+a, gdbSNP:370631015
3348+g, tdbSNP:373822144
complement(3368)-g, adbSNP:79171601
3390+c, tdbSNP:139920513
3408+a, gdbSNP:201777932
3417+a, gdbSNP:143441199
3459+c, tdbSNP:188914862
3475+c, tdbSNP:370363631
3543+dbSNP:
3543+a, gdbSNP:113017214
3570+a, gdbSNP:151232276
3612+c, gdbSNP:201527706
3617+a, gdbSNP:200967068
complement(3618)-g, adbSNP:13561
3625+c, gdbSNP:149990218
3629+a, gdbSNP:373363499
3662+c, gdbSNP:377492248
3670+a, gdbSNP:371809211
3675+a, gdbSNP:189041433
3749..3750+, adbSNP:200331241
3803+a, tdbSNP:376396754
3862+c, tdbSNP:149535796
3872+g, tdbSNP:181864410
3941+a, cdbSNP:143084704
3966+c, gdbSNP:186425739
complement(3971)-t, cdbSNP:2288266
4007+c, tdbSNP:191071027
complement(4180)-, tdbSNP:3217286
4189+a, gdbSNP:55715506
4206+c, gdbSNP:75217257
Gene SymbolPOLR3B
Gene SynonymC128; HLD8; RPC2
Chromosome12
Locus Map12q23.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001160708 Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 2, mRNA. On-demand $1699.00 25
NM_018082 Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA. On-demand $1699.00 25
XM_006719498 PREDICTED: Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant X1, mRNA. On-demand $899.00 20
Title Genome-wide association study of Tourette's syndrome .
Author Scharf JM, Yu D, Mathews CA, Neale BM, Stewart SE, Fagerness JA, Evans P, Gamazon E, Edlund CK, Service SK, Tikhomirov A, Osiecki L, Illmann C, Pluzhnikov A, Konkashbaev A, Davis LK, Han B, Crane J, Moorjani P, Crenshaw AT, Parkin MA, Reus VI, Lowe TL, Rangel-Lugo M, Chouinard S, Dion Y, Girard S, Cath DC, Smit JH, King RA, Fernandez TV, Leckman JF, Kidd KK, Kidd JR, Pakstis AJ, State MW, Herrera LD, Romero R, Fournier E, Sandor P, Barr CL, Phan N, Gross-Tsur V, Benarroch F, Pollak Y, Budman CL, Bruun RD, Erenberg G, Naarden AL, Lee PC, Weiss N, Kremeyer B, Berrio GB, Campbell DD, Cardona Silgado JC, Ochoa WC, Mesa Restrepo SC, Muller H, Valencia Duarte AV, Lyon GJ, Leppert M, Morgan J, Weiss R, Grados MA, Anderson K, Davarya S, Singer H, Walkup J, Jankovic J, Tischfield JA, Heiman GA, Gilbert DL, Hoekstra PJ, Robertson MM, Kurlan R, Liu C, Gibbs JR, Singleton A, Hardy J, Strengman E, Ophoff RA, Wagner M, Moessner R, Mirel DB, Posthuma D, Sabatti C, Eskin E, Conti DV, Knowles JA, Ruiz-Linares A, Rouleau GA, Purcell S, Heutink P, Oostra BA, McMahon WM, Freimer NB, Cox NJ and Pauls DL.
Journal Mol. Psychiatry 18 (6), 721-728 (2013)
Title Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism .
Author Daoud H, Tetreault M, Gibson W, Guerrero K, Cohen A, Gburek-Augustat J, Synofzik M, Brais B, Stevens CA, Sanchez-Carpintero R, Goizet C, Naidu S, Vanderver A and Bernard G.
Journal J. Med. Genet. 50 (3), 194-197 (2013)
Title INMAP, a novel truncated version of POLR3B, represses AP-1 and p53 transcriptional activity .
Author Yunlei Z, Zhe C, Yan L, Pengcheng W, Yanbo Z, Le S and Qianjin L.
Journal Mol. Cell. Biochem. 374 (1-2), 81-89 (2013)
Title Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy .
Author Tetreault M, Choquet K, Orcesi S, Tonduti D, Balottin U, Teichmann M, Fribourg S, Schiffmann R, Brais B, Vanderver A and Bernard G.
Journal Am. J. Hum. Genet. 89 (5), 652-655 (2011)
Title Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy .
Author Saitsu H, Osaka H, Sasaki M, Takanashi J, Hamada K, Yamashita A, Shibayama H, Shiina M, Kondo Y, Nishiyama K, Tsurusaki Y, Miyake N, Doi H, Ogata K, Inoue K and Matsumoto N.
Journal Am. J. Hum. Genet. 89 (5), 644-651 (2011)
Title RIG-I-dependent sensing of poly(dA:dT) through the induction of an .
Author Ablasser A, Bauernfeind F, Hartmann G, Latz E, Fitzgerald KA and Hornung V.
Journal Nat. Immunol. 10 (10), 1065-1072 (2009)
Title Identification and characterization of INMAP, a novel interphase nucleus and mitotic apparatus protein that is involved in spindle formation and cell cycle progression .
Author Shen E, Lei Y, Liu Q, Zheng Y, Song C, Marc J, Wang Y, Sun L and Liang Q.
Journal Exp. Cell Res. 315 (7), 1100-1116 (2009)
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 Leukodystrophy Overview .
Author Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and Van der Knaap,M.S.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Pol III-Related Leukodystrophies .
Author Bernard,G. and Vanderver,A.
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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