LOCUS       NM_003675               1670 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens pre-mRNA processing factor 18 (PRPF18), transcript
            variant 2, mRNA.
ACCESSION   NM_003675
VERSION     NM_003675.4
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 1670)
  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   2  (bases 1 to 1670)
  AUTHORS   Hernandez-Pacheco,N., Flores,C., Alonso,S., Eng,C., Mak,A.C.,
            Hunstman,S., Hu,D., White,M.J., Oh,S.S., Meade,K., Farber,H.J.,
            Avila,P.C., Serebrisky,D., Thyne,S.M., Brigino-Buenaventura,E.,
            Rodriguez-Cintron,W., Sen,S., Kumar,R., Lenoir,M.,
            Rodriguez-Santana,J.R., Burchard,E.G. and Pino-Yanes,M.
  TITLE     Identification of a novel locus associated with skin colour in
            African-admixed populations
  JOURNAL   Sci Rep 7, 44548 (2017)
   PUBMED   28300201
  REMARK    GeneRIF: These results validated the association of two previously
            known skin pigmentation genes, SLC24A5 (minimum p = 2.62 x 10(-14),
            rs1426654) and SLC45A2 (minimum p = 9.71 x 10(-10), rs16891982),
            and revealed the intergenic region of BEND7 and PRPF18 as a novel
            locus associated with this trait (minimum p = 4.58 x 10(-9),
            rs6602666).
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1670)
  AUTHORS   Minakuchi,M., Sugiyama,K., Kato,Y., Naito,T., Okuwaki,M.,
            Kawaguchi,A. and Nagata,K.
  TITLE     Pre-mRNA Processing Factor Prp18 Is a Stimulatory Factor of
            Influenza Virus RNA Synthesis and Possesses Nucleoprotein Chaperone
            Activity
  JOURNAL   J Virol 91 (3), e01398-16 (2017)
   PUBMED   27852861
  REMARK    GeneRIF: We identified the pre-mRNA processing factor Prp18 as a
            stimulatory factor for influenza virus RNA synthesis. Prp18
            facilitates the elongation reaction of viral polymerases by
            preventing the deleterious annealing of newly synthesized RNA to
            the template. Prp18 functions as a chaperone for NP to stimulate
            the formation of NP-RNA complexes.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1670)
  AUTHORS   Chung,S.A., Brown,E.E., Williams,A.H., Ramos,P.S., Berthier,C.C.,
            Bhangale,T., Alarcon-Riquelme,M.E., Behrens,T.W., Criswell,L.A.,
            Graham,D.C., Demirci,F.Y., Edberg,J.C., Gaffney,P.M., Harley,J.B.,
            Jacob,C.O., Kamboh,M.I., Kelly,J.A., Manzi,S., Moser-Sivils,K.L.,
            Russell,L.P., Petri,M., Tsao,B.P., Vyse,T.J., Zidovetzki,R.,
            Kretzler,M., Kimberly,R.P., Freedman,B.I., Graham,R.R. and
            Langefeld,C.D.
  CONSRTM   International Consortium for Systemic Lupus Erythematosus Genetics
  TITLE     Lupus nephritis susceptibility loci in women with systemic lupus
            erythematosus
  JOURNAL   J Am Soc Nephrol 25 (12), 2859-2870 (2014)
   PUBMED   24925725
REFERENCE   5  (bases 1 to 1670)
  AUTHORS   Deng,X., Sabino,E.C., Cunha-Neto,E., Ribeiro,A.L., Ianni,B.,
            Mady,C., Busch,M.P. and Seielstad,M.
  CONSRTM   REDSII Chagas Study Group from the NHLBI Retrovirus Epidemiology
            Donor Study-II Component International
  TITLE     Genome wide association study (GWAS) of Chagas cardiomyopathy in
            Trypanosoma cruzi seropositive subjects
  JOURNAL   PLoS One 8 (11), e79629 (2013)
   PUBMED   24324551
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1670)
  AUTHORS   He,F., Inoue,M., Kigawa,T., Takahashi,M., Kuwasako,K., Tsuda,K.,
            Kobayashi,N., Terada,T., Shirouzu,M., Guntert,P., Yokoyama,S. and
            Muto,Y.
  TITLE     Solution structure of the splicing factor motif of the human Prp18
            protein
  JOURNAL   Proteins 80 (3), 968-974 (2012)
   PUBMED   22213562
  REMARK    GeneRIF: Presented is solution structure of the splicing factor
            motif of hPrp18, which forms a compact fold with two a helices
            interacting head-to-tail and a fixed linker loop.
REFERENCE   7  (bases 1 to 1670)
  AUTHORS   Grupe,A., Li,Y., Rowland,C., Nowotny,P., Hinrichs,A.L., Smemo,S.,
            Kauwe,J.S., Maxwell,T.J., Cherny,S., Doil,L., Tacey,K., van
            Luchene,R., Myers,A., Wavrant-De Vrieze,F., Kaleem,M.,
            Hollingworth,P., Jehu,L., Foy,C., Archer,N., Hamilton,G.,
            Holmans,P., Morris,C.M., Catanese,J., Sninsky,J., White,T.J.,
            Powell,J., Hardy,J., O'Donovan,M., Lovestone,S., Jones,L.,
            Morris,J.C., Thal,L., Owen,M., Williams,J. and Goate,A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 1670)
  AUTHORS   Horowitz,D.S., Lee,E.J., Mabon,S.A. and Misteli,T.
  TITLE     A cyclophilin functions in pre-mRNA splicing
  JOURNAL   EMBO J 21 (3), 470-480 (2002)
   PUBMED   11823439
REFERENCE   9  (bases 1 to 1670)
  AUTHORS   Horowitz,D.S. and Krainer,A.R.
  TITLE     A human protein required for the second step of pre-mRNA splicing
            is functionally related to a yeast splicing factor
  JOURNAL   Genes Dev 11 (1), 139-151 (1997)
   PUBMED   9000057
REFERENCE   10 (bases 1 to 1670)
  AUTHORS   Horowitz,D.S. and Abelson,J.
  TITLE     Stages in the second reaction of pre-mRNA splicing: the final step
            is ATP independent
  JOURNAL   Genes Dev 7 (2), 320-329 (1993)
   PUBMED   8436300
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU142253.1, BC002572.2,
            BC000794.1, AL157392.18 and AI580379.1.
            
            On Nov 22, 2018 this sequence version replaced NM_003675.3.
            
            Summary: Pre-mRNA splicing occurs in 2 sequential
            transesterification steps. The protein encoded by this gene is
            found to be essential for the catalytic step II in pre-mRNA
            splicing process. It is found in the spliceosome, and contains
            seven WD repeats, which function in protein-protein interactions.
            This protein has a sequence similarity to the yeast splicing factor
            Prp18. [provided by RefSeq, Jul 2008].
            
            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 :: SRR5189667.153793.1,
                                           SRR1660807.193746.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378572.8/ ENSP00000367835.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-41                AU142253.1         27-67
            42-185              BC002572.2         1-144
            186-670             BC000794.1         134-618
            671-701             AL157392.18        38011-38041
            702-842             AL157392.18        40099-40239
            843-914             AL157392.18        40373-40444
            915-1070            AL157392.18        42756-42911
            1071-1531           AL157392.18        56618-57078
            1532-1670           AI580379.1         16-154              c
FEATURES             Location/Qualifiers
     source          1..1670
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p13"
     gene            1..1670
                     /gene="PRPF18"
                     /gene_synonym="hPrp18; PRP18"
                     /note="pre-mRNA processing factor 18"
                     /db_xref="GeneID:8559"
                     /db_xref="HGNC:HGNC:17351"
                     /db_xref="MIM:604993"
     exon            1..188
                     /gene="PRPF18"
                     /gene_synonym="hPrp18; PRP18"
                     /inference="alignment:Splign:2.1.0"
     CDS             123..1151
                     /gene="PRPF18"
                     /gene_synonym="hPrp18; PRP18"
                     /note="isoform 2 is encoded by transcript variant 2;
                     pre-mRNA-splicing factor 18; PRP18 pre-mRNA processing
                     factor 18 homolog(PRPF18); PRP18 homolog"
                     /codon_start=1
                     /product="pre-mRNA-splicing factor 18 isoform 2"
                     /protein_id="NP_003666.1"
                     /db_xref="CCDS:CCDS7100.1"
                     /db_xref="GeneID:8559"
                     /db_xref="HGNC:HGNC:17351"
                     /db_xref="MIM:604993"
                     /translation="MDILKSEILRKRQLVEDRNLLVENKKYFKRSELAKKEEEAYFER
                     CGYKIQPKEEDQKPLTSSNPVLELELAEEKLPMTLSRQEVIRRLRERGEPIRLFGETD
                     YDAFQRLRKIEILTPEVNKGLRNDLKAALDKIDQQYLNEIVGGQEPGEEDTQNDLKVH
                     EENTTIEELEALGESLGKGDDHKDMDIITKFLKFLLGVWAKELNAREDYVKRSVQGKL
                     NSATQKQTESYLRPLFRKLRKRNLPADIKESITDIIKFMLQREYVKANDAYLQMAIGN
                     APWPIGVTMVGIHARTGREKIFSKHVAHVLNDETQRKYIQGLKRLMTICQKHFPTDPS
                     KCVEYNAL"
     exon            189..266
                     /gene="PRPF18"
                     /gene_synonym="hPrp18; PRP18"
                     /inference="alignment:Splign:2.1.0"
     exon            267..371
                     /gene="PRPF18"
                     /gene_synonym="hPrp18; PRP18"
                     /inference="alignment:Splign:2.1.0"
     exon            372..485
                     /gene="PRPF18"
                     /gene_synonym="hPrp18; PRP18"
                     /inference="alignment:Splign:2.1.0"
     exon            486..632
                     /gene="PRPF18"
                     /gene_synonym="hPrp18; PRP18"
                     /inference="alignment:Splign:2.1.0"
     exon            633..701
                     /gene="PRPF18"
                     /gene_synonym="hPrp18; PRP18"
                     /inference="alignment:Splign:2.1.0"
     exon            702..842
                     /gene="PRPF18"
                     /gene_synonym="hPrp18; PRP18"
                     /inference="alignment:Splign:2.1.0"
     exon            843..914
                     /gene="PRPF18"
                     /gene_synonym="hPrp18; PRP18"
                     /inference="alignment:Splign:2.1.0"
     exon            915..1070
                     /gene="PRPF18"
                     /gene_synonym="hPrp18; PRP18"
                     /inference="alignment:Splign:2.1.0"
     exon            1071..1670
                     /gene="PRPF18"
                     /gene_synonym="hPrp18; PRP18"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1514..1519
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRPF18"
                     /gene_synonym="hPrp18; PRP18"
                     /note="hexamer: AGTAAA"
     polyA_site      1534
                     /gene="PRPF18"
                     /gene_synonym="hPrp18; PRP18"
                     /note="major polyA site"
     regulatory      1558..1563
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRPF18"
                     /gene_synonym="hPrp18; PRP18"
                     /note="hexamer: TATAAA"
     polyA_site      1585
                     /gene="PRPF18"
                     /gene_synonym="hPrp18; PRP18"
                     /note="major polyA site"
     regulatory      1647..1652
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRPF18"
                     /gene_synonym="hPrp18; PRP18"
                     /note="hexamer: AATAGA"
     polyA_site      1670
                     /gene="PRPF18"
                     /gene_synonym="hPrp18; PRP18"
                     /note="major polyA site"
ORIGIN      
        1 agttgttctc aggtgtttgg gcttgttgtt ccgtatactc agtgggttcg cggccgccgg
       61 cccagtgagg ctgggttcga ggagctggag cgggaaactg gagcttaaat tctggcggcg
      121 agatggacat tctgaaatca gagatccttc ggaagcggca gctggtggag gacaggaacc
      181 tgctggtgga aaataaaaaa tatttcaagc gtagtgagct cgccaaaaaa gaagaggaag
      241 catattttga aagatgtggc tacaagatac agccaaaaga ggaggaccag aaaccattaa
      301 cttcatcgaa tccagtgtta gaacttgaac tggcagagga aaaattacct atgacgcttt
      361 ctaggcaaga ggtcatcaga agattgagag aaagaggaga accaatcaga ctatttggag
      421 agactgatta tgatgctttt caacgtttaa ggaaaataga gatcctcaca ccagaagtta
      481 acaagggatt gaggaatgat ttgaaagcag ccttggataa gattgatcag cagtacctca
      541 atgaaatcgt cggcggtcag gagcctggag aggaagacac acagaatgat ctgaaagttc
      601 atgaggaaaa caccacaatt gaagagttag aggcgcttgg agagtcctta gggaaaggcg
      661 atgatcataa agacatggac atcatcacca aattcctgaa gtttcttctt ggcgtttggg
      721 ctaaagaatt gaatgccaga gaagattatg tgaaacgcag tgtgcagggt aaactgaaca
      781 gtgcgaccca gaaacagacc gagtcctacc taagaccact ttttagaaag ctacggaaaa
      841 ggaatcttcc tgctgatatt aaagaatcaa taacggatat tattaaattc atgttgcaga
      901 gagaatacgt gaaggcaaat gatgcttatc ttcagatggc cattggaaat gcgccttggc
      961 ccatcggtgt cactatggtt ggtatccatg ccagaactgg cagagaaaag attttttcca
     1021 agcatgttgc acatgtttta aatgacgaaa ctcagcggaa atatattcag ggattgaaga
     1081 ggttaatgac catttgccag aaacactttc ctacagaccc atccaaatgt gtggagtaca
     1141 atgcactgtg agatctgtgt atggtgtgtt aataacaata agaaacttag ggaagcaggc
     1201 tgtggacttc tggaattacc aacaggaatg aggaaagaag aaaactggag tttccagtct
     1261 ctgagttcta cctgatgtaa ctcttgattg gttttaagaa ctttgttggc cttcatttca
     1321 tatctgactg caagctgatt tttctttctt gctttcattt taattagtcc aaaattaagt
     1381 tttaaagatt tttcctcaca atttaaatcc atagacaaca gaagggggtt taaaatgacc
     1441 tttttttcag ttgacccgaa agttgtggtt agatgattaa aaagaaacat ttgaggatgg
     1501 acttaattat ttcagtaaaa tattataatt tgcctattgt cttttatgta atatttatat
     1561 aaaatatttt tatatatttc aaaaacatgg gaccattgaa tgaaacttta tagtccttaa
     1621 atgttgctga acttttgctg tcttgcaata gaatttgaat gtaaatatta
//
