RPC7L_HUMAN
ID RPC7L_HUMAN Reviewed; 218 AA.
AC Q9BT43; B1MVG5;
DT 13-NOV-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 143.
DE RecName: Full=DNA-directed RNA polymerase III subunit RPC7-like;
DE Short=RNA polymerase III subunit C7-like;
DE AltName: Full=DNA-directed RNA polymerase III subunit G-like;
DE AltName: Full=RNA polymerase III 32 kDa beta subunit;
DE Short=RPC32-beta {ECO:0000303|PubMed:20154270};
GN Name=POLR3GL;
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 [MRNA], FUNCTION, SUBCELLULAR LOCATION, AND
RP DEVELOPMENTAL STAGE.
RX PubMed=20154270; DOI=10.1073/pnas.0914980107;
RA Haurie V., Durrieu-Gaillard S., Dumay-Odelot H., Da Silva D., Rey C.,
RA Prochazkova M., Roeder R.G., Besser D., Teichmann M.;
RT "Two isoforms of human RNA polymerase III with specific functions in cell
RT growth and transformation.";
RL Proc. Natl. Acad. Sci. U.S.A. 107:4176-4181(2010).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Skeletal muscle;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Eye;
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 [4]
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 [5]
RP INTERACTION WITH POLR3C.
RX PubMed=21358628; DOI=10.1038/nsmb.1996;
RA Lefevre S., Dumay-Odelot H., El-Ayoubi L., Budd A., Legrand P., Pinaud N.,
RA Teichmann M., Fribourg S.;
RT "Structure-function analysis of hRPC62 provides insights into RNA
RT polymerase III transcription initiation.";
RL Nat. Struct. Mol. Biol. 18:352-358(2011).
RN [6]
RP IDENTIFICATION IN RNA POL III SUBCOMPLEXES, AND DEVELOPMENTAL STAGE.
RX PubMed=24107381; DOI=10.1101/gr.161570.113;
RA Renaud M., Praz V., Vieu E., Florens L., Washburn M.P., l'Hote P.,
RA Hernandez N.;
RT "Gene duplication and neofunctionalization: POLR3G and POLR3GL.";
RL Genome Res. 24:37-51(2014).
RN [7]
RP FUNCTION, AND TISSUE SPECIFICITY.
RX PubMed=28494942; DOI=10.1016/j.stemcr.2017.04.016;
RA Lund R.J., Rahkonen N., Malonzo M., Kauko L., Emani M.R., Kivinen V.,
RA Naervae E., Kemppainen E., Laiho A., Skottman H., Hovatta O., Rasool O.,
RA Nykter M., Laehdesmaeki H., Lahesmaa R.;
RT "RNA polymerase III subunit POLR3G regulates specific subsets of polyA(+)
RT and smallRNA transcriptomes and splicing in human pluripotent stem cells.";
RL Stem Cell Reports 8:1442-1454(2017).
RN [8] {ECO:0007744|PDB:5AFQ}
RP X-RAY CRYSTALLOGRAPHY (7.00 ANGSTROMS) OF 50-134 IN COMPLEX WITH POLR3C.
RX PubMed=26394183; DOI=10.1016/j.jsb.2015.09.004;
RA Boissier F., Dumay-Odelot H., Teichmann M., Fribourg S.;
RT "Structural analysis of human RPC32beta-RPC62 complex.";
RL J. Struct. Biol. 192:313-319(2015).
RN [9]
RP INVOLVEMENT IN SOFM.
RX PubMed=31089205; DOI=10.1038/s41431-019-0427-0;
RA Terhal P.A., Vlaar J.M., Middelkamp S., Nievelstein R.A.J., Nikkels P.G.J.,
RA Ross J., Creton M., Bos J.W., Voskuil-Kerkhof E.S.M., Cuppen E., Knoers N.,
RA van Gassen K.L.I.;
RT "Biallelic variants in POLR3GL cause endosteal hyperostosis and
RT oligodontia.";
RL Eur. J. Hum. Genet. 28:31-39(2020).
RN [10]
RP INVOLVEMENT IN SOFM, VARIANT SOFM 120-ARG--TYR-218 DEL, AND
RP CHARACTERIZATION OF VARIANT SOFM 120-ARG--TYR-218 DEL.
RX PubMed=31695177; DOI=10.1038/s41431-019-0539-6;
RA Beauregard-Lacroix E., Salian S., Kim H., Ehresmann S., D'Amours G.,
RA Gauthier J., Saillour V., Bernard G., Mitchell G.A., Soucy J.F.,
RA Michaud J.L., Campeau P.M.;
RT "A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch
RT syndrome, is associated with a nonsense variant in POLR3GL.";
RL Eur. J. Hum. Genet. 28:461-468(2020).
CC -!- FUNCTION: DNA-dependent RNA polymerase catalyzes the transcription of
CC DNA into RNA using the four ribonucleoside triphosphates as substrates.
CC Specific peripheric component of RNA polymerase III which synthesizes
CC small RNAs, such as 5S rRNA and tRNAs. {ECO:0000269|PubMed:20154270}.
CC -!- SUBUNIT: Component of the RNA polymerase III (Pol III) complex
CC consisting of 17 subunits (By similarity). Found a trimeric complex
CC with POLR3C and POLR3G (PubMed:24107381). Directly interacts with
CC POLR3C (PubMed:21358628, PubMed:24107381, PubMed:26394183).
CC {ECO:0000250, ECO:0000269|PubMed:21358628, ECO:0000269|PubMed:24107381,
CC ECO:0000269|PubMed:26394183}.
CC -!- INTERACTION:
CC Q9BT43; Q8N7W2-2: BEND7; NbExp=3; IntAct=EBI-2855862, EBI-10181188;
CC Q9BT43; P30281: CCND3; NbExp=9; IntAct=EBI-2855862, EBI-375013;
CC Q9BT43; P25800: LMO1; NbExp=3; IntAct=EBI-2855862, EBI-8639312;
CC Q9BT43; Q8TC57: M1AP; NbExp=3; IntAct=EBI-2855862, EBI-748182;
CC Q9BT43; P50221: MEOX1; NbExp=3; IntAct=EBI-2855862, EBI-2864512;
CC Q9BT43; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-2855862, EBI-16439278;
CC Q9BT43; P26367: PAX6; NbExp=3; IntAct=EBI-2855862, EBI-747278;
CC Q9BT43; Q9BUI4: POLR3C; NbExp=7; IntAct=EBI-2855862, EBI-5452779;
CC Q9BT43; Q9H1D9: POLR3F; NbExp=4; IntAct=EBI-2855862, EBI-710067;
CC Q9BT43; Q12800: TFCP2; NbExp=3; IntAct=EBI-2855862, EBI-717422;
CC Q9BT43; Q8IY57-5: YAF2; NbExp=3; IntAct=EBI-2855862, EBI-12111538;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20154270}.
CC -!- TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:20154270}.
CC -!- DEVELOPMENTAL STAGE: Up-regulated in embryonic stem cells upon retinoic
CC acid-induced differentiation into embroid bodies (at protein level)
CC (PubMed:28494942). No significant changes in mRNA levels between
CC dividing and non-dividing cells, although levels tends to be slightly
CC higher in non-dividing cells (PubMed:20154270, PubMed:24107381).
CC {ECO:0000269|PubMed:20154270, ECO:0000269|PubMed:24107381,
CC ECO:0000269|PubMed:28494942}.
CC -!- DISEASE: Short stature, oligodontia, dysmorphic facies, and motor delay
CC (SOFM) [MIM:619234]: An autosomal recessive disorder with phenotypic
CC variability. The main clinical features include endosteal hyperostosis,
CC short stature, oligodontia, mild facial dysmorphisms, and delayed motor
CC development. Some patients show progeroid features.
CC {ECO:0000269|PubMed:31089205, ECO:0000269|PubMed:31695177}. Note=The
CC disease may be caused by variants affecting the gene represented in
CC this entry.
CC -!- SIMILARITY: Belongs to the eukaryotic RPC7 RNA polymerase subunit
CC family. {ECO:0000305}.
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DR EMBL; DQ418461; ABD76394.1; -; mRNA.
DR EMBL; AK056984; BAB71332.1; -; mRNA.
DR EMBL; BC004355; AAH04355.1; -; mRNA.
DR CCDS; CCDS72875.1; -.
DR RefSeq; NP_001317614.1; NM_001330685.1.
DR RefSeq; NP_115681.1; NM_032305.2.
DR RefSeq; XP_005277488.1; XM_005277431.4.
DR PDB; 5AFQ; X-ray; 7.00 A; D/E=50-134.
DR PDBsum; 5AFQ; -.
DR AlphaFoldDB; Q9BT43; -.
DR SMR; Q9BT43; -.
DR BioGRID; 123992; 32.
DR DIP; DIP-59080N; -.
DR IntAct; Q9BT43; 28.
DR MINT; Q9BT43; -.
DR STRING; 9606.ENSP00000358320; -.
DR iPTMnet; Q9BT43; -.
DR PhosphoSitePlus; Q9BT43; -.
DR BioMuta; POLR3GL; -.
DR DMDM; 74733087; -.
DR EPD; Q9BT43; -.
DR jPOST; Q9BT43; -.
DR MassIVE; Q9BT43; -.
DR MaxQB; Q9BT43; -.
DR PaxDb; Q9BT43; -.
DR PeptideAtlas; Q9BT43; -.
DR PRIDE; Q9BT43; -.
DR ProteomicsDB; 78950; -.
DR Antibodypedia; 33956; 157 antibodies from 15 providers.
DR DNASU; 84265; -.
DR Ensembl; ENST00000369314.2; ENSP00000358320.1; ENSG00000121851.13.
DR GeneID; 84265; -.
DR KEGG; hsa:84265; -.
DR MANE-Select; ENST00000369314.2; ENSP00000358320.1; NM_032305.3; NP_115681.1.
DR UCSC; uc001enp.1; human.
DR CTD; 84265; -.
DR DisGeNET; 84265; -.
DR GeneCards; POLR3GL; -.
DR HGNC; HGNC:28466; POLR3GL.
DR HPA; ENSG00000121851; Low tissue specificity.
DR MalaCards; POLR3GL; -.
DR MIM; 617457; gene.
DR MIM; 619234; phenotype.
DR neXtProt; NX_Q9BT43; -.
DR PharmGKB; PA134921690; -.
DR VEuPathDB; HostDB:ENSG00000121851; -.
DR eggNOG; ENOG502QUPX; Eukaryota.
DR GeneTree; ENSGT01040000240524; -.
DR InParanoid; Q9BT43; -.
DR OMA; DKYNRSE; -.
DR PhylomeDB; Q9BT43; -.
DR TreeFam; TF103052; -.
DR PathwayCommons; Q9BT43; -.
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; Q9BT43; -.
DR BioGRID-ORCS; 84265; 13 hits in 1078 CRISPR screens.
DR ChiTaRS; POLR3GL; human.
DR GenomeRNAi; 84265; -.
DR Pharos; Q9BT43; Tdark.
DR PRO; PR:Q9BT43; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q9BT43; protein.
DR Bgee; ENSG00000121851; Expressed in gastrocnemius and 98 other tissues.
DR ExpressionAtlas; Q9BT43; baseline and differential.
DR Genevisible; Q9BT43; HS.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005654; C:nucleoplasm; TAS:Reactome.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0005666; C:RNA polymerase III complex; IDA:MGI.
DR GO; GO:0006383; P:transcription by RNA polymerase III; IDA:UniProtKB.
DR InterPro; IPR024661; RNA_pol_III_Rpc31.
DR PANTHER; PTHR15367; PTHR15367; 1.
DR Pfam; PF11705; RNA_pol_3_Rpc31; 1.
DR PIRSF; PIRSF000777; RNA_polIII_C31; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Disease variant; Dwarfism; Nucleus; Reference proteome.
FT CHAIN 1..218
FT /note="DNA-directed RNA polymerase III subunit RPC7-like"
FT /id="PRO_0000311590"
FT REGION 133..218
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 133..158
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 159..197
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 204..218
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 120..218
FT /note="Missing (in SOFM; unknown pathological significance;
FT decrease in transcript levels, possibly due to nonsense-
FT mediated mRNA decay)"
FT /evidence="ECO:0000269|PubMed:31695177"
FT /id="VAR_085496"
SQ SEQUENCE 218 AA; 25334 MW; 01E3B35D7279E43E CRC64;
MASRGGGRGR GRGQLTFNVE AVGIGKGDAL PPPTLQPSPL FPPLEFRPVP LPSGEEGEYV
LALKQELRGA MRQLPYFIRP AVPKRDVERY SDKYQMSGPI DNAIDWNPDW RRLPRELKIR
VRKLQKERIT ILLPKRPPKT TEDKEETIQK LETLEKKEEE VTSEEDEEKE EEEEKEEEEE
EEYDEEEHEE ETDYIMSYFD NGEDFGGDSD DNMDEAIY
