RCL1_HUMAN
ID RCL1_HUMAN Reviewed; 373 AA.
AC Q9Y2P8; D3DRI2; Q5VYW9; Q5VZU1; Q9H9D0; Q9NY00; Q9P044;
DT 01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
DT 07-MAR-2006, sequence version 3.
DT 03-AUG-2022, entry version 192.
DE RecName: Full=RNA 3'-terminal phosphate cyclase-like protein;
GN Name=RCL1; Synonyms=RNAC, RPC2, RPCL1, RTC2; ORFNames=HSPC338;
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] (ISOFORM 1).
RX PubMed=10790377; DOI=10.1093/emboj/19.9.2115;
RA Billy E., Wegierski T., Nasr F., Filipowicz W.;
RT "Rcl1p, the yeast protein similar to the RNA 3'-phosphate cyclase,
RT associates with U3 snoRNP and is required for 18S rRNA biogenesis.";
RL EMBO J. 19:2115-2126(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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] (ISOFORM 2).
RC TISSUE=Seminoma;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 8-373 (ISOFORM 1).
RC TISSUE=Umbilical cord blood;
RX PubMed=11042152; DOI=10.1101/gr.140200;
RA Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G.,
RA Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W.,
RA Tao J., Huang Q.-H., Zhou J., Hu G.-X., Gu J., Chen S.-J., Chen Z.;
RT "Cloning and functional analysis of cDNAs with open reading frames for 300
RT previously undefined genes expressed in CD34+ hematopoietic stem/progenitor
RT cells.";
RL Genome Res. 10:1546-1560(2000).
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 46-373 (ISOFORM 1).
RC TISSUE=Umbilical cord blood;
RA Ye M., Zhang Q.-H., Zhou J., Shen Y., Wu X.-Y., Guan Z.Q., Wang L.,
RA Fan H.-Y., Mao Y.-F., Dai M., Huang Q.-H., Chen S.-J., Chen Z.;
RT "Human partial CDS from CD34+ stem cells.";
RL Submitted (MAY-1999) to the EMBL/GenBank/DDBJ databases.
RN [9]
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).
CC -!- FUNCTION: Does not have cyclase activity. Plays a role in 40S-
CC ribosomal-subunit biogenesis in the early pre-rRNA processing steps at
CC sites A0, A1 and A2 that are required for proper maturation of the 18S
CC RNA (By similarity). {ECO:0000250}.
CC -!- INTERACTION:
CC Q9Y2P8; Q08379: GOLGA2; NbExp=3; IntAct=EBI-11026509, EBI-618309;
CC -!- SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9Y2P8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y2P8-2; Sequence=VSP_056452, VSP_056453;
CC -!- SIMILARITY: Belongs to the RNA 3'-terminal cyclase family. Type 2
CC subfamily. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAD32456.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AJ276894; CAB89811.1; -; mRNA.
DR EMBL; AK022904; BAB14300.1; -; mRNA.
DR EMBL; EF553527; ABQ66271.1; -; mRNA.
DR EMBL; AL158147; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL353151; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471071; EAW58776.1; -; Genomic_DNA.
DR EMBL; CH471071; EAW58777.1; -; Genomic_DNA.
DR EMBL; BC001025; AAH01025.1; -; mRNA.
DR EMBL; AF067172; AAD32456.1; ALT_FRAME; mRNA.
DR EMBL; AF161456; AAF29016.1; -; mRNA.
DR CCDS; CCDS6456.1; -. [Q9Y2P8-1]
DR CCDS; CCDS69565.1; -. [Q9Y2P8-2]
DR RefSeq; NP_001273628.1; NM_001286699.1.
DR RefSeq; NP_001273629.1; NM_001286700.1.
DR RefSeq; NP_001273630.1; NM_001286701.1. [Q9Y2P8-2]
DR RefSeq; NP_005763.3; NM_005772.4. [Q9Y2P8-1]
DR RefSeq; XP_011515975.1; XM_011517673.2. [Q9Y2P8-2]
DR RefSeq; XP_016869665.1; XM_017014176.1. [Q9Y2P8-2]
DR PDB; 7MQ8; EM; 3.60 A; SH=1-373.
DR PDB; 7MQ9; EM; 3.87 A; SH=1-373.
DR PDB; 7MQA; EM; 2.70 A; SH=1-373.
DR PDBsum; 7MQ8; -.
DR PDBsum; 7MQ9; -.
DR PDBsum; 7MQA; -.
DR AlphaFoldDB; Q9Y2P8; -.
DR SMR; Q9Y2P8; -.
DR BioGRID; 115473; 83.
DR IntAct; Q9Y2P8; 27.
DR MINT; Q9Y2P8; -.
DR STRING; 9606.ENSP00000371169; -.
DR iPTMnet; Q9Y2P8; -.
DR PhosphoSitePlus; Q9Y2P8; -.
DR SwissPalm; Q9Y2P8; -.
DR BioMuta; RCL1; -.
DR DMDM; 90103518; -.
DR EPD; Q9Y2P8; -.
DR jPOST; Q9Y2P8; -.
DR MassIVE; Q9Y2P8; -.
DR MaxQB; Q9Y2P8; -.
DR PaxDb; Q9Y2P8; -.
DR PeptideAtlas; Q9Y2P8; -.
DR PRIDE; Q9Y2P8; -.
DR ProteomicsDB; 65725; -.
DR ProteomicsDB; 85857; -. [Q9Y2P8-1]
DR Antibodypedia; 24072; 158 antibodies from 25 providers.
DR DNASU; 10171; -.
DR Ensembl; ENST00000381728.5; ENSP00000371147.1; ENSG00000120158.12. [Q9Y2P8-2]
DR Ensembl; ENST00000381730.5; ENSP00000371149.1; ENSG00000120158.12. [Q9Y2P8-2]
DR Ensembl; ENST00000381750.9; ENSP00000371169.4; ENSG00000120158.12. [Q9Y2P8-1]
DR Ensembl; ENST00000448872.6; ENSP00000388096.2; ENSG00000120158.12. [Q9Y2P8-2]
DR GeneID; 10171; -.
DR KEGG; hsa:10171; -.
DR MANE-Select; ENST00000381750.9; ENSP00000371169.4; NM_005772.5; NP_005763.3.
DR UCSC; uc003zis.4; human. [Q9Y2P8-1]
DR CTD; 10171; -.
DR DisGeNET; 10171; -.
DR GeneCards; RCL1; -.
DR HGNC; HGNC:17687; RCL1.
DR HPA; ENSG00000120158; Tissue enhanced (liver).
DR MIM; 611405; gene.
DR neXtProt; NX_Q9Y2P8; -.
DR OpenTargets; ENSG00000120158; -.
DR PharmGKB; PA134894364; -.
DR VEuPathDB; HostDB:ENSG00000120158; -.
DR eggNOG; KOG3980; Eukaryota.
DR GeneTree; ENSGT00530000063404; -.
DR HOGENOM; CLU_027882_1_0_1; -.
DR OMA; GCLYSAD; -.
DR OrthoDB; 1423847at2759; -.
DR PhylomeDB; Q9Y2P8; -.
DR TreeFam; TF300831; -.
DR PathwayCommons; Q9Y2P8; -.
DR Reactome; R-HSA-6790901; rRNA modification in the nucleus and cytosol.
DR Reactome; R-HSA-6791226; Major pathway of rRNA processing in the nucleolus and cytosol.
DR SignaLink; Q9Y2P8; -.
DR BioGRID-ORCS; 10171; 731 hits in 1083 CRISPR screens.
DR ChiTaRS; RCL1; human.
DR GeneWiki; RCL1; -.
DR GenomeRNAi; 10171; -.
DR Pharos; Q9Y2P8; Tbio.
DR PRO; PR:Q9Y2P8; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q9Y2P8; protein.
DR Bgee; ENSG00000120158; Expressed in buccal mucosa cell and 164 other tissues.
DR ExpressionAtlas; Q9Y2P8; baseline and differential.
DR Genevisible; Q9Y2P8; HS.
DR GO; GO:0005730; C:nucleolus; IBA:GO_Central.
DR GO; GO:0005654; C:nucleoplasm; TAS:Reactome.
DR GO; GO:0004521; F:endoribonuclease activity; IBA:GO_Central.
DR GO; GO:0000480; P:endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); IEA:Ensembl.
DR GO; GO:0000447; P:endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); IEA:Ensembl.
DR GO; GO:0000479; P:endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); IBA:GO_Central.
DR CDD; cd00875; RNA_Cyclase_Class_I; 1.
DR Gene3D; 3.30.360.20; -; 1.
DR Gene3D; 3.65.10.20; -; 1.
DR InterPro; IPR013791; RNA3'-term_phos_cycl_insert.
DR InterPro; IPR023797; RNA3'_phos_cyclase_dom.
DR InterPro; IPR037136; RNA3'_phos_cyclase_dom_sf.
DR InterPro; IPR000228; RNA3'_term_phos_cyc.
DR InterPro; IPR016443; RNA3'_term_phos_cyc_type_2.
DR InterPro; IPR020719; RNA3'_term_phos_cycl-like_CS.
DR InterPro; IPR013792; RNA3'P_cycl/enolpyr_Trfase_a/b.
DR InterPro; IPR036553; RPTC_insert.
DR PANTHER; PTHR11096; PTHR11096; 1.
DR PANTHER; PTHR11096:SF1; PTHR11096:SF1; 1.
DR Pfam; PF01137; RTC; 1.
DR Pfam; PF05189; RTC_insert; 1.
DR PIRSF; PIRSF005378; RNA3'_term_phos_cycl_euk; 1.
DR SUPFAM; SSF55205; SSF55205; 1.
DR TIGRFAMs; TIGR03400; 18S_RNA_Rcl1p; 1.
DR PROSITE; PS01287; RTC; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Nucleus; Reference proteome;
KW Ribosome biogenesis.
FT CHAIN 1..373
FT /note="RNA 3'-terminal phosphate cyclase-like protein"
FT /id="PRO_0000156438"
FT VAR_SEQ 1..9
FT /note="MATQAHSLS -> MTSLTPGCR (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_056452"
FT VAR_SEQ 10..195
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_056453"
FT CONFLICT 6
FT /note="H -> Y (in Ref. 2; BAB14300)"
FT /evidence="ECO:0000305"
FT CONFLICT 46
FT /note="D -> S (in Ref. 8; AAF29016)"
FT /evidence="ECO:0000305"
FT CONFLICT 49
FT /note="A -> S (in Ref. 8; AAF29016)"
FT /evidence="ECO:0000305"
FT CONFLICT 153
FT /note="K -> N (in Ref. 2; BAB14300)"
FT /evidence="ECO:0000305"
FT CONFLICT 310
FT /note="Q -> R (in Ref. 1; CAB89811, 7; AAD32456 and 8;
FT AAF29016)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 373 AA; 40843 MW; 533FAE8420AF93CB CRC64;
MATQAHSLSY AGCNFLRQRL VLSTLSGRPV KIRKIRARDD NPGLRDFEAS FIRLLDKITN
GSRIEINQTG TTLYYQPGLL YGGSVEHDCS VLRGIGYYLE SLLCLAPFMK HPLKIVLRGV
TNDQVDPSVD VLKATALPLL KQFGIDGESF ELKIVRRGMP PGGGGEVVFS CPVRKVLKPI
QLTDPGKIKR IRGMAYSVRV SPQMANRIVD SARSILNKFI PDIYIYTDHM KGVNSGKSPG
FGLSLVAETT SGTFLSAELA SNPQGQGAAV LPEDLGRNCA RLLLEEIYRG GCVDSTNQSL
ALLLMTLGQQ DVSKVLLGPL SPYTIEFLRH LKSFFQIMFK IETKPCGEEL KGGDKVLMTC
VGIGFSNLSK TLK
