LOCUS       NM_005772               2061 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens RNA terminal phosphate cyclase like 1 (RCL1),
            transcript variant 1, mRNA.
ACCESSION   NM_005772
VERSION     NM_005772.5
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  (bases 1 to 2061)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   2  (bases 1 to 2061)
  AUTHORS   Singh,S., Vanden Broeck,A., Miller,L., Chaker-Margot,M. and
            Klinge,S.
  TITLE     Nucleolar maturation of the human small subunit processome
  JOURNAL   Science 373 (6560), eabj5338 (2021)
   PUBMED   34516797
REFERENCE   3  (bases 1 to 2061)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 2061)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 2061)
  AUTHORS   Amin,N., de Vrij,F.M.S., Baghdadi,M., Brouwer,R.W.W., van
            Rooij,J.G.J., Jovanova,O., Uitterlinden,A.G., Hofman,A.,
            Janssen,H.L.A., Darwish Murad,S., Kraaij,R., Stedehouder,J., van
            den Hout,M.C.G.N., Kros,J.M., van IJcken,W.F.J., Tiemeier,H.,
            Kushner,S.A. and van Duijn,C.M.
  TITLE     A rare missense variant in RCL1 segregates with depression in
            extended families
  JOURNAL   Mol Psychiatry 23 (5), 1120-1126 (2018)
   PUBMED   28322274
  REMARK    GeneRIF: we identified a rare (minor allele frequency (MAF)=1%)
            missense c.1114C>T mutation (rs115482041) in the RCL1 gene
            segregating with depression across multiple generations.
            Rs115482041 showed significant association with depressive symptoms
            (N=2393, betaT-allele=2.33, P-value=1 x 10-4) and explained 2.9% of
            the estimated genetic variance of depressive symptoms
REFERENCE   6  (bases 1 to 2061)
  AUTHORS   van der Harst,P., Zhang,W., Mateo Leach,I., Rendon,A., Verweij,N.,
            Sehmi,J., Paul,D.S., Elling,U., Allayee,H., Li,X.,
            Radhakrishnan,A., Tan,S.T., Voss,K., Weichenberger,C.X.,
            Albers,C.A., Al-Hussani,A., Asselbergs,F.W., Ciullo,M., Danjou,F.,
            Dina,C., Esko,T., Evans,D.M., Franke,L., Gogele,M., Hartiala,J.,
            Hersch,M., Holm,H., Hottenga,J.J., Kanoni,S., Kleber,M.E.,
            Lagou,V., Langenberg,C., Lopez,L.M., Lyytikainen,L.P., Melander,O.,
            Murgia,F., Nolte,I.M., O'Reilly,P.F., Padmanabhan,S., Parsa,A.,
            Pirastu,N., Porcu,E., Portas,L., Prokopenko,I., Ried,J.S.,
            Shin,S.Y., Tang,C.S., Teumer,A., Traglia,M., Ulivi,S., Westra,H.J.,
            Yang,J., Zhao,J.H., Anni,F., Abdellaoui,A., Attwood,A., Balkau,B.,
            Bandinelli,S., Bastardot,F., Benyamin,B., Boehm,B.O., Cookson,W.O.,
            Das,D., de Bakker,P.I., de Boer,R.A., de Geus,E.J., de Moor,M.H.,
            Dimitriou,M., Domingues,F.S., Doring,A., Engstrom,G.,
            Eyjolfsson,G.I., Ferrucci,L., Fischer,K., Galanello,R.,
            Garner,S.F., Genser,B., Gibson,Q.D., Girotto,G., Gudbjartsson,D.F.,
            Harris,S.E., Hartikainen,A.L., Hastie,C.E., Hedblad,B., Illig,T.,
            Jolley,J., Kahonen,M., Kema,I.P., Kemp,J.P., Liang,L.,
            Lloyd-Jones,H., Loos,R.J., Meacham,S., Medland,S.E., Meisinger,C.,
            Memari,Y., Mihailov,E., Miller,K., Moffatt,M.F., Nauck,M.,
            Novatchkova,M., Nutile,T., Olafsson,I., Onundarson,P.T.,
            Parracciani,D., Penninx,B.W., Perseu,L., Piga,A., Pistis,G.,
            Pouta,A., Puc,U., Raitakari,O., Ring,S.M., Robino,A., Ruggiero,D.,
            Ruokonen,A., Saint-Pierre,A., Sala,C., Salumets,A., Sambrook,J.,
            Schepers,H., Schmidt,C.O., Sillje,H.H., Sladek,R., Smit,J.H.,
            Starr,J.M., Stephens,J., Sulem,P., Tanaka,T., Thorsteinsdottir,U.,
            Tragante,V., van Gilst,W.H., van Pelt,L.J., van Veldhuisen,D.J.,
            Volker,U., Whitfield,J.B., Willemsen,G., Winkelmann,B.R.,
            Wirnsberger,G., Algra,A., Cucca,F., d'Adamo,A.P., Danesh,J.,
            Deary,I.J., Dominiczak,A.F., Elliott,P., Fortina,P., Froguel,P.,
            Gasparini,P., Greinacher,A., Hazen,S.L., Jarvelin,M.R., Khaw,K.T.,
            Lehtimaki,T., Maerz,W., Martin,N.G., Metspalu,A., Mitchell,B.D.,
            Montgomery,G.W., Moore,C., Navis,G., Pirastu,M., Pramstaller,P.P.,
            Ramirez-Solis,R., Schadt,E., Scott,J., Shuldiner,A.R., Smith,G.D.,
            Smith,J.G., Snieder,H., Sorice,R., Spector,T.D., Stefansson,K.,
            Stumvoll,M., Tang,W.H., Toniolo,D., Tonjes,A., Visscher,P.M.,
            Vollenweider,P., Wareham,N.J., Wolffenbuttel,B.H., Boomsma,D.I.,
            Beckmann,J.S., Dedoussis,G.V., Deloukas,P., Ferreira,M.A.,
            Sanna,S., Uda,M., Hicks,A.A., Penninger,J.M., Gieger,C.,
            Kooner,J.S., Ouwehand,W.H., Soranzo,N. and Chambers,J.C.
  TITLE     Seventy-five genetic loci influencing the human red blood cell
  JOURNAL   Nature 492 (7429), 369-375 (2012)
   PUBMED   23222517
REFERENCE   7  (bases 1 to 2061)
  AUTHORS   Andersen,J.S., Lam,Y.W., Leung,A.K., Ong,S.E., Lyon,C.E.,
            Lamond,A.I. and Mann,M.
  TITLE     Nucleolar proteome dynamics
  JOURNAL   Nature 433 (7021), 77-83 (2005)
   PUBMED   15635413
REFERENCE   8  (bases 1 to 2061)
  AUTHORS   Billy,E., Wegierski,T., Nasr,F. and Filipowicz,W.
  TITLE     Rcl1p, the yeast protein similar to the RNA 3'-phosphate cyclase,
            associates with U3 snoRNP and is required for 18S rRNA biogenesis
  JOURNAL   EMBO J 19 (9), 2115-2126 (2000)
   PUBMED   10790377
REFERENCE   9  (bases 1 to 2061)
  AUTHORS   Genschik,P., Billy,E., Swianiewicz,M. and Filipowicz,W.
  TITLE     The human RNA 3'-terminal phosphate cyclase is a member of a new
            family of proteins conserved in Eucarya, Bacteria and Archaea
  JOURNAL   EMBO J 16 (10), 2955-2967 (1997)
   PUBMED   9184239
REFERENCE   10 (bases 1 to 2061)
  AUTHORS   Vicente,O. and Filipowicz,W.
  TITLE     Purification of RNA 3'-terminal phosphate cyclase from HeLa cells.
            Covalent modification of the enzyme with different nucleotides
  JOURNAL   Eur J Biochem 176 (2), 431-439 (1988)
   PUBMED   3416880
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC001025.2, AF067172.1, BI859171.1, AI688431.1 and CA422524.1.
            
            On Nov 22, 2018 this sequence version replaced NM_005772.4.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            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 :: SRR1803616.95535.1, AK022904.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000381750.9/ ENSP00000371169.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1294              BC001025.2         4-1297
            1295-1522           AF067172.1         1124-1351
            1523-1703           BI859171.1         450-630
            1704-2058           AI688431.1         11-365              c
            2059-2061           CA422524.1         28-30               c
FEATURES             Location/Qualifiers
     source          1..2061
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p24.1"
     gene            1..2061
                     /gene="RCL1"
                     /gene_synonym="RNAC; RPCL1"
                     /note="RNA terminal phosphate cyclase like 1"
                     /db_xref="GeneID:10171"
                     /db_xref="HGNC:HGNC:17687"
                     /db_xref="MIM:611405"
     exon            1..284
                     /gene="RCL1"
                     /gene_synonym="RNAC; RPCL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             149..1270
                     /gene="RCL1"
                     /gene_synonym="RNAC; RPCL1"
                     /note="isoform a is encoded by transcript variant 1; RNA
                     cyclase homolog; RNA 3'-terminal phosphate cyclase-like
                     protein"
                     /codon_start=1
                     /product="RNA 3'-terminal phosphate cyclase-like protein
                     isoform a"
                     /protein_id="NP_005763.3"
                     /db_xref="CCDS:CCDS6456.1"
                     /db_xref="GeneID:10171"
                     /db_xref="HGNC:HGNC:17687"
                     /db_xref="MIM:611405"
                     /translation="MATQAHSLSYAGCNFLRQRLVLSTLSGRPVKIRKIRARDDNPGL
                     RDFEASFIRLLDKITNGSRIEINQTGTTLYYQPGLLYGGSVEHDCSVLRGIGYYLESL
                     LCLAPFMKHPLKIVLRGVTNDQVDPSVDVLKATALPLLKQFGIDGESFELKIVRRGMP
                     PGGGGEVVFSCPVRKVLKPIQLTDPGKIKRIRGMAYSVRVSPQMANRIVDSARSILNK
                     FIPDIYIYTDHMKGVNSGKSPGFGLSLVAETTSGTFLSAELASNPQGQGAAVLPEDLG
                     RNCARLLLEEIYRGGCVDSTNQSLALLLMTLGQQDVSKVLLGPLSPYTIEFLRHLKSF
                     FQIMFKIETKPCGEELKGGDKVLMTCVGIGFSNLSKTLK"
     exon            285..356
                     /gene="RCL1"
                     /gene_synonym="RNAC; RPCL1"
                     /inference="alignment:Splign:2.1.0"
     exon            357..532
                     /gene="RCL1"
                     /gene_synonym="RNAC; RPCL1"
                     /inference="alignment:Splign:2.1.0"
     exon            533..607
                     /gene="RCL1"
                     /gene_synonym="RNAC; RPCL1"
                     /inference="alignment:Splign:2.1.0"
     exon            608..732
                     /gene="RCL1"
                     /gene_synonym="RNAC; RPCL1"
                     /inference="alignment:Splign:2.1.0"
     exon            733..858
                     /gene="RCL1"
                     /gene_synonym="RNAC; RPCL1"
                     /inference="alignment:Splign:2.1.0"
     exon            859..1015
                     /gene="RCL1"
                     /gene_synonym="RNAC; RPCL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1016..1119
                     /gene="RCL1"
                     /gene_synonym="RNAC; RPCL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1120..2061
                     /gene="RCL1"
                     /gene_synonym="RNAC; RPCL1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2040..2045
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RCL1"
                     /gene_synonym="RNAC; RPCL1"
                     /note="hexamer: ATTAAA"
     polyA_site      2061
                     /gene="RCL1"
                     /gene_synonym="RNAC; RPCL1"
                     /note="major polyA site"
ORIGIN      
        1 aaaccacgtg gacgcgtctg ggctgctgga ggcagcccga gccgccgccg tcggtgtcgc
       61 cgccaccacc accatcggag tcacgagtcc cgcgtctgtc cgaagtcgcc gctctcgggc
      121 tgctcacgtc tcttcggaga gcgcgcacat ggcgactcag gcgcactccc tcagctacgc
      181 agggtgcaac ttcttgcgcc aacgtctggt cctgtctacc ctgagcgggc gccccgtcaa
      241 aatccgaaag attcgggcca gagacgacaa cccgggcctc cgagattttg aagccagctt
      301 cataaggcta ttggacaaaa taacgaatgg ttctcgaatt gaaataaacc aaacaggaac
      361 aaccttatat tatcagcctg gcctcctgta tggtggatct gtggaacatg actgtagcgt
      421 ccttcgtggc attgggtatt acctggagag tcttctttgc ttggctccat ttatgaagca
      481 cccgttaaaa atagttctac gaggagtgac caatgatcag gttgaccctt cagttgatgt
      541 tcttaaggca acagcactcc ctttgttgaa acaatttggg attgatggtg aatcatttga
      601 actgaagatt gtgcgacggg gaatgcctcc cggaggagga ggcgaagtgg ttttctcatg
      661 tcctgtgagg aaggtcttga agcccattca actcacagat ccaggaaaaa tcaaacgtat
      721 tagaggaatg gcgtactctg tacgtgtgtc acctcagatg gcgaaccgga ttgtggattc
      781 tgcaaggagc atcctcaaca agttcatacc tgatatctat atttacacag atcacatgaa
      841 aggagtcaac tctgggaagt ctccgggctt tgggttgtca ctggttgctg agaccaccag
      901 tggcaccttc ctcagtgctg aactggcctc caacccccag ggccagggag cagcagtact
      961 tccagaggac cttggcagga actgtgcccg gctgctgctg gaggaaatct acaggggtgg
     1021 atgcgtagac tcgaccaacc aaagcctggc gctactactc atgacccttg gacagcagga
     1081 tgtttccaaa gtcctgctag gccctctctc tccctacacg atagaatttt tgcggcattt
     1141 gaagagcttt ttccagatta tgtttaaaat tgaaaccaag ccatgtggtg aagaactcaa
     1201 gggtggggat aaagtgctga tgacctgtgt tggcattggt ttctccaacc ttagcaagac
     1261 cctcaagtga taaccatcac aagataaggc cccaatgcct acagacaaag cagaagctgc
     1321 cacggacacc aatgggacca agtccaaatg gattaatcca ggacagaata gccacttgct
     1381 taattttctg tgaagaaata tcaatataca aataaaagac atccctgtag catatggttt
     1441 ccagctgttt ctccagtggc attgccattg cccaggaggg gcccagtcac catgagagct
     1501 cccttgcctt acctggagga agaatgtgcc ttcaggccac agtcgtgctg ctagaacagt
     1561 ctcgtagctg cagttcagct gtgcttcctc agcctactat cataggcttc ctcagccctc
     1621 tgtcatatgg ctgttttgca aacctgtgga gtctgttact gttctttctg caaggactca
     1681 cctccttgag ccttggtttt tgttgtaggg attaaatgag ataatatgag tggcagctct
     1741 tcatgagtcc tgcagtgcta agcaaatgtc agaaattggt gtattagact atttatcttt
     1801 gatcttctga atggattgct gtcatggaca cggacacgga tcttcatctg gttcattgta
     1861 tttatatgtg agggatggat ggctgcgggg ctccaagtaa gttattggga tgtttttata
     1921 ttccaggtgt gctgtacatt cttattttat tttcacaata gctctgtgat gtaagtgcta
     1981 tctccatgag aaaattcata aagggtgttt tgttcctttg aaatgtataa tgtaaagaca
     2041 ttaaatctcc tcatttaagg a
//
