LOCUS       NP_060552               1133 aa            linear   PRI 28-APR-2025
DEFINITION  DNA-directed RNA polymerase III subunit RPC2 isoform 1 [Homo
            sapiens].
ACCESSION   NP_060552
VERSION     NP_060552.4
DBSOURCE    REFSEQ: accession NM_018082.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1133)
  AUTHORS   Geroldi,A., Tozza,S., Fiorillo,C., Nolano,M., Fossa,P., Vitale,F.,
            Domi,R., Gaudio,A., Mammi,A., Patrone,S., Barbera,A., Origone,P.,
            Ponti,C., Sanguineri,F., Zara,F., Cataldi,M., Salpietro,V.,
            Venturi,C.B., Massucco,S., Schenone,A., Manganelli,F., Mandich,P.,
            Bellone,E. and Gotta,F.
  TITLE     A novel de novo variant in POLR3B gene associated with a primary
            axonal involvement of the largest nerve fibers
  JOURNAL   J Peripher Nerv Syst 28 (4), 620-628 (2023)
   PUBMED   37897416
  REMARK    GeneRIF: A novel de novo variant in POLR3B gene associated with a
            primary axonal involvement of the largest nerve fibers.
REFERENCE   2  (residues 1 to 1133)
  AUTHORS   Bai,H., Li,D., Zheng,Y. and Jiang,X.
  TITLE     Case report: Biallelic variants in POLR3B gene lead to 4H
            leukodystrophy from the study of brother and sister
  JOURNAL   Medicine (Baltimore) 101 (34), e30350 (2022)
   PUBMED   36042647
  REMARK    GeneRIF: Case report: Biallelic variants in POLR3B gene lead to 4H
            leukodystrophy from the study of brother and sister.
REFERENCE   3  (residues 1 to 1133)
  AUTHORS   Tetreault,M., Choquet,K., Orcesi,S., Tonduti,D., Balottin,U.,
            Teichmann,M., Fribourg,S., Schiffmann,R., Brais,B., Vanderver,A.
            and Bernard,G.
  TITLE     Recessive mutations in POLR3B, encoding the second largest subunit
            of Pol III, cause a rare hypomyelinating leukodystrophy
  JOURNAL   Am J Hum Genet 89 (5), 652-655 (2011)
   PUBMED   22036172
  REMARK    GeneRIF: Recessive mutations in POLR3B, encoding the second largest
            subunit of Pol III, cause a rare hypomyelinating leukodystrophy
REFERENCE   4  (residues 1 to 1133)
  AUTHORS   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.
  TITLE     Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits
            cause an autosomal-recessive hypomyelinating leukoencephalopathy
  JOURNAL   Am J Hum Genet 89 (5), 644-651 (2011)
   PUBMED   22036171
  REMARK    GeneRIF: Mutations in POLR3A and POLR3B encoding RNA Polymerase III
            subunits cause an autosomal-recessive hypomyelinating
            leukoencephalopathy
REFERENCE   5  (residues 1 to 1133)
  AUTHORS   Shen,E., Lei,Y., Liu,Q., Zheng,Y., Song,C., Marc,J., Wang,Y.,
            Sun,L. and Liang,Q.
  TITLE     Identification and characterization of INMAP, a novel interphase
            nucleus and mitotic apparatus protein that is involved in spindle
            formation and cell cycle progression
  JOURNAL   Exp Cell Res 315 (7), 1100-1116 (2009)
   PUBMED   19331820
  REMARK    GeneRIF: Results suggest that INMAP is a novel protein that plays
            essential role in spindle formation and cell-cycle progression.
REFERENCE   6  (residues 1 to 1133)
  AUTHORS   Hu,P., Wu,S., Sun,Y., Yuan,C.C., Kobayashi,R., Myers,M.P. and
            Hernandez,N.
  TITLE     Characterization of human RNA polymerase III identifies orthologues
            for Saccharomyces cerevisiae RNA polymerase III subunits
  JOURNAL   Mol Cell Biol 22 (22), 8044-8055 (2002)
   PUBMED   12391170
  REMARK    GeneRIF: Data describe the purification and identification of RNA
            polymerase III subunits RPC2 and RPC5.
REFERENCE   7  (residues 1 to 1133)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   8  (residues 1 to 1133)
  AUTHORS   Bernard,G. and Vanderver,A.
  TITLE     POLR3-Related Leukodystrophy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   22855961
REFERENCE   9  (residues 1 to 1133)
  AUTHORS   Balasubramanian,R. and Crowley,W.F. Jr.
  TITLE     Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301509
REFERENCE   10 (residues 1 to 1133)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX537447.1 and BC033724.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 5, 2009 this sequence version replaced NP_060552.3.
            
            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).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX537447.1, SRR1803615.228111.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000228347.9/ ENSP00000228347.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1133
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.3"
     Protein         1..1133
                     /product="DNA-directed RNA polymerase III subunit RPC2
                     isoform 1"
                     /EC_number="2.7.7.6"
                     /note="DNA-directed RNA polymerase III subunit B; RNA
                     polymerase III subunit C2; polymerase (RNA) III (DNA
                     directed) polypeptide B; DNA-directed RNA polymerase III
                     subunit RPC2; DNA-directed RNA polymerase III 127.6 kDa
                     polypeptide; interphase nucleus and mitotic apparatus
                     associated protein; polymerase (RNA) III subunit B"
                     /calculated_mol_wt=127655
     Region          39..1127
                     /region_name="RNA_pol_B_RPB2"
                     /note="RNA polymerase beta subunit. RNA polymerases
                     catalyse the DNA dependent polymerization of RNA.
                     Prokaryotes contain a single RNA polymerase compared to
                     three in eukaryotes (not including mitochondrial. and
                     chloroplast polymerases). Each RNA polymerase...; cd00653"
                     /db_xref="CDD:238353"
     Site            order(105,768,810,812,816..818,820)
                     /site_type="other"
                     /note="RPB12 interaction site [polypeptide binding]"
                     /db_xref="CDD:238353"
     Site            429
                     /site_type="other"
                     /note="Critical in trapping poly(dT) in Pol III-mediated
                     transcription termination.
                     /evidence=ECO:0000305|PubMed:34675218; propagated from
                     UniProtKB/Swiss-Prot (Q9NW08.2)"
     Site            order(467,469..471,473,476,481,658,676..678,680,743..746,
                     749,751..753,904,906,908,930,932,935,938,943,947,964,991,
                     999..1001,1003,1016,1019..1021,1023..1024,1045..1047,1051,
                     1053..1054,1056,1058..1063,1065..1070,1074,1107,1111,1113,
                     1115..1116,1118,1120..1123,1125,1127)
                     /site_type="other"
                     /note="RPB1 interaction site [polypeptide binding]"
                     /db_xref="CDD:238353"
     Region          539..600
                     /region_name="RNA_pol_Rpb2_4"
                     /note="RNA polymerase Rpb2, domain 4; pfam04566"
                     /db_xref="CDD:428012"
     Region          621..661
                     /region_name="RNA_pol_Rpb2_5"
                     /note="RNA polymerase Rpb2, domain 5; pfam04567"
                     /db_xref="CDD:428013"
     Site            order(716..717,738,740,761,764,913,926,953..954,956,987,
                     1004)
                     /site_type="other"
                     /note="RPB10 interaction site [polypeptide binding]"
                     /db_xref="CDD:238353"
     Site            order(749,763,912,993)
                     /site_type="other"
                     /note="RPB11 interaction site [polypeptide binding]"
                     /db_xref="CDD:238353"
     Site            order(763..764,768,886,888,913..915,918,920..921,992..999,
                     1001)
                     /site_type="other"
                     /note="RPB3 interaction site [polypeptide binding]"
                     /db_xref="CDD:238353"
     CDS             1..1133
                     /gene="POLR3B"
                     /gene_synonym="C128; CMT1I; HLD8; INMAP; RPC2"
                     /coded_by="NM_018082.6:133..3534"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS9105.1"
                     /db_xref="GeneID:55703"
                     /db_xref="HGNC:HGNC:30348"
                     /db_xref="MIM:614366"
ORIGIN      
        1 mdvlaeefgn ltpeqlaapi ptveekwrll paflkvkglv kqhidsfnyf inveikkimk
       61 anekvtsdad pmwylkylni yvglpdvees fnvtrpvsph ecrlrdmtys apitvdieyt
      121 rgsqriirna lpigrmpiml rssncvltgk tpaefaklne cpldpggyfi vkgvekvili
      181 qeqlsknrii veadrkgavg asvtssthek ksrtnmavkq grfylrhntl sedipiviif
      241 kamgvesdqe ivqmigteeh vmaafgpsle ecqkaqiftq mqalkyignk vrrqrmwggg
      301 pkktkieear ellastilth vpvkefnfra kciytavmvr rvilaqgdnk vddrdyygnk
      361 rlelagqlls llfedlfkkf nsemkkiadq vipkqraaqf dvvkhmrqdq itngmvnais
      421 tgnwslkrfk mdrqgvtqvl srlsyisalg mmtrissqfe ktrkvsgprs lqpsqwgmlc
      481 psdtpegeac glvknlalmt hittdmedgp ivklasnlgv edvnllcgee lsypnvflvf
      541 lngnilgvir dhkklvntfr lmrragyine fvsistnltd rcvyissdgg rlcrpyiivk
      601 kqkpavtnkh meelaqgyrn fedflheslv eyldvneend cnialyehti nkdtthleie
      661 pftllgvcag lipyphhnqs prntyqcamg kqamgtigyn qrnridtlmy llaypqkpmv
      721 ktktielief eklpagqnat vavmsysgyd iedalvlnka sldrgfgrcl vyknakctlk
      781 rytnqtfdkv mgpmldaatr kpiwrheild adgicspgek venkqvlvnk smptvtqipl
      841 egsnvpqqpq ykdvpitykg atdsyiekvm issnaedafl ikmllrqtrr peigdkfssr
      901 hgqkgvcgli vpqedmpfcd sgicpdiimn phgfpsrmtv gkliellagk agvldgrfhy
      961 gtafggskvk dvcedlvrhg ynylgkdyvt sgitgeplea yiyfgpvyyq klkhmvldkm
     1021 harargprav ltrqptegrs rdgglrlgem erdcligyga smlllerlmi ssdafevdvc
     1081 gqcgllgysg wchyckssch vsslripyac kllfqelqsm niiprlklsk yne
//
