RPC10_HUMAN
ID RPC10_HUMAN Reviewed; 108 AA.
AC Q9Y2Y1; Q1W6H4; Q96S35;
DT 26-SEP-2001, integrated into UniProtKB/Swiss-Prot.
DT 23-FEB-2022, sequence version 3.
DT 03-AUG-2022, entry version 191.
DE RecName: Full=DNA-directed RNA polymerase III subunit RPC10;
DE Short=RNA polymerase III subunit C10;
DE AltName: Full=DNA-directed RNA polymerase III subunit K;
DE AltName: Full=RNA polymerase III 12.5 kDa subunit;
DE Short=RPC12.5;
DE AltName: Full=RNA polymerase III subunit C11;
DE Short=HsC11p;
DE Short=RPC11;
DE Short=hRPC11;
GN Name=POLR3K; Synonyms=RPC11; ORFNames=My010;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=9869639; DOI=10.1101/gad.12.24.3857;
RA Chedin S., Riva M., Schultz P., Sentenac A., Carles C.;
RT "The RNA cleavage activity of RNA polymerase III is mediated by an
RT essential TFIIS-like subunit and is important for transcription
RT termination.";
RL Genes Dev. 12:3857-3871(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=10079944;
RA Spakovskii G.V., Lebedenko E.N.;
RT "Molecular identification and characteristics of hRPC11, the smallest
RT specific subunit of human RNA polymerase III.";
RL Bioorg. Khim. 24:877-880(1998).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Fetal brain;
RA Mao Y.M., Xie Y., Zheng Z.H., Gu S.H., Ying K., Lin Q., Dai J.L., Tang R.,
RA Dong H., Wu X.Z.;
RL Submitted (APR-1998) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=16728641; DOI=10.1126/science.1126431;
RA De Gobbi M., Viprakasit V., Hughes J.R., Fisher C., Buckle V.J., Ayyub H.,
RA Gibbons R.J., Vernimmen D., Yoshinaga Y., de Jong P., Cheng J.-F.,
RA Rubin E.M., Wood W.G., Bowden D., Higgs D.R.;
RT "A regulatory SNP causes a human genetic disease by creating a new
RT transcriptional promoter.";
RL Science 312:1215-1217(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11157797; DOI=10.1093/hmg/10.4.339;
RA Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., Tufarelli C.,
RA Kearney L., Buckle V.J., Doggett N.A., Flint J., Higgs D.R.;
RT "Sequence, structure and pathology of the fully annotated terminal 2 Mb of
RT the short arm of human chromosome 16.";
RL Hum. Mol. Genet. 10:339-352(2001).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15616553; DOI=10.1038/nature03187;
RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA Myers R.M., Rubin E.M., Pennacchio L.A.;
RT "The sequence and analysis of duplication-rich human chromosome 16.";
RL Nature 432:988-994(2004).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Uterus;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [8]
RP IDENTIFICATION IN THE RNA POL III COMPLEX, IDENTIFICATION BY MASS
RP SPECTROMETRY, FUNCTION, AND SUBUNIT.
RX PubMed=12391170; DOI=10.1128/mcb.22.22.8044-8055.2002;
RA Hu P., Wu S., Sun Y., Yuan C.-C., Kobayashi R., Myers M.P., Hernandez N.;
RT "Characterization of human RNA polymerase III identifies orthologues for
RT Saccharomyces cerevisiae RNA polymerase III subunits.";
RL Mol. Cell. Biol. 22:8044-8055(2002).
RN [9]
RP FUNCTION.
RX PubMed=19631370; DOI=10.1016/j.cell.2009.06.015;
RA Chiu Y.-H., Macmillan J.B., Chen Z.J.;
RT "RNA polymerase III detects cytosolic DNA and induces type I interferons
RT through the RIG-I pathway.";
RL Cell 138:576-591(2009).
RN [10]
RP FUNCTION.
RX PubMed=19609254; DOI=10.1038/ni.1779;
RA Ablasser A., Bauernfeind F., Hartmann G., Latz E., Fitzgerald K.A.,
RA Hornung V.;
RT "RIG-I-dependent sensing of poly(dA:dT) through the induction of an RNA
RT polymerase III-transcribed RNA intermediate.";
RL Nat. Immunol. 10:1065-1072(2009).
RN [11]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [12]
RP INVOLVEMENT IN HLD21, VARIANT HLD21 TRP-41, CHARACTERIZATION OF VARIANT
RP HLD21 TRP-41, AND FUNCTION.
RX PubMed=30584594; DOI=10.1212/nxg.0000000000000289;
RA Dorboz I., Dumay-Odelot H., Boussaid K., Bouyacoub Y., Barreau P.,
RA Samaan S., Jmel H., Eymard-Pierre E., Cances C., Bar C., Poulat A.L.,
RA Rousselle C., Renaldo F., Elmaleh-Berges M., Teichmann M.,
RA Boespflug-Tanguy O.;
RT "Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal
RT ribosomal RNA regulation.";
RL Neurol. Genet. 4:e289-e289(2018).
CC -!- FUNCTION: DNA-dependent RNA polymerase catalyzes the transcription of
CC DNA into RNA using the four ribonucleoside triphosphates as substrates
CC (PubMed:12391170). Component of RNA polymerase III which synthesizes
CC small RNAs, such as 5S rRNA and tRNAs (PubMed:12391170,
CC PubMed:30584594). Plays a key role in sensing and limiting infection by
CC intracellular bacteria and DNA viruses (PubMed:19631370,
CC PubMed:19609254). Acts as nuclear and cytosolic DNA sensor involved in
CC innate immune response (PubMed:19631370, PubMed:19609254). Can sense
CC non-self dsDNA that serves as template for transcription into dsRNA
CC (PubMed:19631370, PubMed:19609254). The non-self RNA polymerase III
CC transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce
CC type I interferon and NF-kappa-B through the RIG-I pathway
CC (PubMed:19631370, PubMed:19609254). {ECO:0000269|PubMed:12391170,
CC ECO:0000269|PubMed:19609254, ECO:0000269|PubMed:19631370,
CC ECO:0000269|PubMed:30584594}.
CC -!- SUBUNIT: Component of the RNA polymerase III (Pol III) complex
CC consisting of 17 subunits. {ECO:0000269|PubMed:19609254}.
CC -!- INTERACTION:
CC Q9Y2Y1; Q6IPU0: CENPP; NbExp=3; IntAct=EBI-11023785, EBI-10250303;
CC Q9Y2Y1; O00560: SDCBP; NbExp=3; IntAct=EBI-11023785, EBI-727004;
CC Q9Y2Y1; Q86WT6-2: TRIM69; NbExp=3; IntAct=EBI-11023785, EBI-11525489;
CC -!- SUBCELLULAR LOCATION: Nucleus, nucleolus
CC {ECO:0000250|UniProtKB:P32529}.
CC -!- DISEASE: Leukodystrophy, hypomyelinating, 21 (HLD21) [MIM:619310]: An
CC autosomal recessive neurodegenerative disorder characterized by global
CC developmental delay, loss of motor, speech and cognitive milestones in
CC the first decades of life, and diffuse hypomyelination of the white
CC matter and atrophy of the cerebellum and corpus callosum observed on
CC brain imaging. Clinical features include nystagmus, ataxia, dystonia,
CC and spasticity. Other more variable features are feeding difficulties,
CC poor overall growth with microcephaly, optic atrophy, and seizures.The
CC disorder is progressive and may lead to premature death.
CC {ECO:0000269|PubMed:30584594}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the archaeal RpoM/eukaryotic RPA12/RPB9/RPC11
CC RNA polymerase family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAK61210.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=CAI95605.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AF126531; AAD31424.1; -; Genomic_DNA.
DR EMBL; AF051316; AAF18268.1; -; mRNA.
DR EMBL; AF060223; AAG43123.1; -; mRNA.
DR EMBL; DQ431198; ABD95903.1; -; Genomic_DNA.
DR EMBL; AE006462; AAK61210.1; ALT_SEQ; Genomic_DNA.
DR EMBL; Z69719; CAI95605.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BC011932; AAH11932.1; -; mRNA.
DR CCDS; CCDS10395.1; -.
DR RefSeq; NP_057394.3; NM_016310.4.
DR PDB; 7A6H; EM; 3.30 A; I=1-108.
DR PDB; 7AE1; EM; 2.80 A; I=1-108.
DR PDB; 7AE3; EM; 3.10 A; I=1-108.
DR PDB; 7AEA; EM; 3.40 A; I=1-108.
DR PDB; 7AST; EM; 4.00 A; A=1-108.
DR PDB; 7D58; EM; 2.90 A; I=1-108.
DR PDB; 7D59; EM; 3.10 A; I=1-108.
DR PDB; 7DN3; EM; 3.50 A; I=1-108.
DR PDB; 7DU2; EM; 3.35 A; I=1-108.
DR PDB; 7FJI; EM; 3.60 A; I=1-108.
DR PDB; 7FJJ; EM; 3.60 A; I=1-108.
DR PDBsum; 7A6H; -.
DR PDBsum; 7AE1; -.
DR PDBsum; 7AE3; -.
DR PDBsum; 7AEA; -.
DR PDBsum; 7AST; -.
DR PDBsum; 7D58; -.
DR PDBsum; 7D59; -.
DR PDBsum; 7DN3; -.
DR PDBsum; 7DU2; -.
DR PDBsum; 7FJI; -.
DR PDBsum; 7FJJ; -.
DR AlphaFoldDB; Q9Y2Y1; -.
DR SMR; Q9Y2Y1; -.
DR BioGRID; 119701; 83.
DR IntAct; Q9Y2Y1; 15.
DR MINT; Q9Y2Y1; -.
DR STRING; 9606.ENSP00000293860; -.
DR GlyGen; Q9Y2Y1; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9Y2Y1; -.
DR PhosphoSitePlus; Q9Y2Y1; -.
DR SwissPalm; Q9Y2Y1; -.
DR BioMuta; POLR3K; -.
DR DMDM; 116242768; -.
DR EPD; Q9Y2Y1; -.
DR jPOST; Q9Y2Y1; -.
DR MassIVE; Q9Y2Y1; -.
DR MaxQB; Q9Y2Y1; -.
DR PaxDb; Q9Y2Y1; -.
DR PeptideAtlas; Q9Y2Y1; -.
DR PRIDE; Q9Y2Y1; -.
DR ProteomicsDB; 85935; -.
DR Antibodypedia; 1811; 153 antibodies from 24 providers.
DR DNASU; 51728; -.
DR Ensembl; ENST00000293860.6; ENSP00000293860.5; ENSG00000161980.6.
DR GeneID; 51728; -.
DR KEGG; hsa:51728; -.
DR MANE-Select; ENST00000293860.6; ENSP00000293860.5; NM_016310.5; NP_057394.3.
DR UCSC; uc002cfi.3; human.
DR CTD; 51728; -.
DR DisGeNET; 51728; -.
DR GeneCards; POLR3K; -.
DR HGNC; HGNC:14121; POLR3K.
DR HPA; ENSG00000161980; Low tissue specificity.
DR MIM; 606007; gene.
DR MIM; 619310; phenotype.
DR neXtProt; NX_Q9Y2Y1; -.
DR OpenTargets; ENSG00000161980; -.
DR PharmGKB; PA33521; -.
DR VEuPathDB; HostDB:ENSG00000161980; -.
DR eggNOG; KOG2906; Eukaryota.
DR GeneTree; ENSGT00550000075071; -.
DR HOGENOM; CLU_093932_3_0_1; -.
DR InParanoid; Q9Y2Y1; -.
DR OrthoDB; 1508693at2759; -.
DR PhylomeDB; Q9Y2Y1; -.
DR TreeFam; TF103031; -.
DR PathwayCommons; Q9Y2Y1; -.
DR Reactome; R-HSA-1834949; Cytosolic sensors of pathogen-associated DNA.
DR Reactome; R-HSA-73780; RNA Polymerase III Chain Elongation.
DR Reactome; R-HSA-73980; RNA Polymerase III Transcription Termination.
DR Reactome; R-HSA-749476; RNA Polymerase III Abortive And Retractive Initiation.
DR Reactome; R-HSA-76061; RNA Polymerase III Transcription Initiation From Type 1 Promoter.
DR Reactome; R-HSA-76066; RNA Polymerase III Transcription Initiation From Type 2 Promoter.
DR Reactome; R-HSA-76071; RNA Polymerase III Transcription Initiation From Type 3 Promoter.
DR SignaLink; Q9Y2Y1; -.
DR SIGNOR; Q9Y2Y1; -.
DR BioGRID-ORCS; 51728; 762 hits in 1077 CRISPR screens.
DR ChiTaRS; POLR3K; human.
DR GeneWiki; POLR3K; -.
DR GenomeRNAi; 51728; -.
DR Pharos; Q9Y2Y1; Tbio.
DR PRO; PR:Q9Y2Y1; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q9Y2Y1; protein.
DR Bgee; ENSG00000161980; Expressed in mucosa of transverse colon and 194 other tissues.
DR Genevisible; Q9Y2Y1; HS.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005730; C:nucleolus; IEA:UniProtKB-SubCell.
DR GO; GO:0005654; C:nucleoplasm; TAS:Reactome.
DR GO; GO:0005666; C:RNA polymerase III complex; IBA:GO_Central.
DR GO; GO:0003899; F:DNA-directed 5'-3' RNA polymerase activity; TAS:ProtInc.
DR GO; GO:0003676; F:nucleic acid binding; IEA:InterPro.
DR GO; GO:0008270; F:zinc ion binding; IEA:InterPro.
DR GO; GO:0051607; P:defense response to virus; IEA:UniProtKB-KW.
DR GO; GO:0045087; P:innate immune response; IEA:UniProtKB-KW.
DR GO; GO:0006386; P:termination of RNA polymerase III transcription; IBA:GO_Central.
DR GO; GO:0006383; P:transcription by RNA polymerase III; TAS:ProtInc.
DR GO; GO:0042779; P:tRNA 3'-trailer cleavage; IEA:InterPro.
DR CDD; cd10509; Zn-ribbon_RPC11; 1.
DR InterPro; IPR019761; DNA-dir_RNA_pol-M_15_CS.
DR InterPro; IPR001529; DNA-dir_RNA_pol_M/15kDasu.
DR InterPro; IPR012164; Rpa12/Rpb9/Rpc10/TFS.
DR InterPro; IPR034014; Zn_ribbon_RPC11_C.
DR InterPro; IPR001222; Znf_TFIIS.
DR PANTHER; PTHR11239; PTHR11239; 1.
DR Pfam; PF02150; RNA_POL_M_15KD; 1.
DR Pfam; PF01096; TFIIS_C; 1.
DR PIRSF; PIRSF005586; RNApol_RpoM; 1.
DR SMART; SM00661; RPOL9; 1.
DR SMART; SM00440; ZnF_C2C2; 1.
DR PROSITE; PS01030; RNA_POL_M_15KD; 1.
DR PROSITE; PS00466; ZF_TFIIS_1; 1.
DR PROSITE; PS51133; ZF_TFIIS_2; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Antiviral defense; Disease variant;
KW DNA-directed RNA polymerase; Immunity; Innate immunity; Leukodystrophy;
KW Metal-binding; Neurodegeneration; Nucleus; Reference proteome;
KW Transcription; Zinc; Zinc-finger.
FT CHAIN 1..108
FT /note="DNA-directed RNA polymerase III subunit RPC10"
FT /id="PRO_0000121475"
FT ZN_FING 5..28
FT /note="C4-type"
FT /evidence="ECO:0000255"
FT ZN_FING 65..107
FT /note="TFIIS-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00472"
FT BINDING 69
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00472"
FT BINDING 72
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00472"
FT BINDING 97
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00472"
FT BINDING 102
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00472"
FT VARIANT 24
FT /note="A -> S (in dbSNP:rs183360)"
FT /id="VAR_027918"
FT VARIANT 41
FT /note="R -> W (in HLD21; decrease in expression levels of
FT RNA polymerase III-transcribed genes such as 5S and 7S
FT ribosomal RNAs; dbSNP:rs1432006875)"
FT /evidence="ECO:0000269|PubMed:30584594"
FT /id="VAR_085543"
FT TURN 6..8
FT /evidence="ECO:0007829|PDB:7AE1"
FT STRAND 13..16
FT /evidence="ECO:0007829|PDB:7AE1"
FT STRAND 18..24
FT /evidence="ECO:0007829|PDB:7AE1"
FT STRAND 26..33
FT /evidence="ECO:0007829|PDB:7AE1"
FT STRAND 38..41
FT /evidence="ECO:0007829|PDB:7AE1"
FT HELIX 50..53
FT /evidence="ECO:0007829|PDB:7AE1"
FT TURN 54..56
FT /evidence="ECO:0007829|PDB:7AE1"
FT STRAND 64..66
FT /evidence="ECO:0007829|PDB:7D58"
FT TURN 70..72
FT /evidence="ECO:0007829|PDB:7AE1"
FT STRAND 77..82
FT /evidence="ECO:0007829|PDB:7AE1"
FT STRAND 84..86
FT /evidence="ECO:0007829|PDB:7AE1"
FT STRAND 87..89
FT /evidence="ECO:0007829|PDB:7D58"
FT STRAND 92..99
FT /evidence="ECO:0007829|PDB:7AE1"
FT STRAND 102..106
FT /evidence="ECO:0007829|PDB:7AE1"
SQ SEQUENCE 108 AA; 12320 MW; 3E96C0F2B48F9D1B CRC64;
MLLFCPGCGN GLIVEEGQRC HRFACNTCPY VHNITRKVTN RKYPKLKEVD DVLGGAAAWE
NVDSTAESCP KCEHPRAYFM QLQTRSADEP MTTFYKCCNA QCGHRWRD
