LOCUS       NM_027328               3143 bp    mRNA    linear   ROD 30-APR-2024
DEFINITION  Mus musculus pre-mRNA processing factor 31 (Prpf31), transcript
            variant 1, mRNA.
ACCESSION   NM_027328 XM_620612
VERSION     NM_027328.4
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 3143)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 3143)
  AUTHORS   Xiao,X., Ling,F., Chen,C.B., Liang,J., Cao,Y., Xu,Y. and Chen,H.
  TITLE     PRPF31 interacts with PRPH2 confirmed by co-immunoprecipitation and
            co-localization
  JOURNAL   Biochem Biophys Res Commun 629, 12-16 (2022)
   PUBMED   36088804
  REMARK    GeneRIF: PRPF31 interacts with PRPH2 confirmed by
            co-immunoprecipitation and co-localization.
REFERENCE   3  (bases 1 to 3143)
  AUTHORS   Pan,M., Yin,Y., Wang,X., Wang,Q., Zhang,L., Hu,H. and Wang,C.
  TITLE     Mice deficient in UXT exhibit retinitis pigmentosa-like features
            via aberrant autophagy activation
  JOURNAL   Autophagy 17 (8), 1873-1888 (2021)
   PUBMED   32744119
REFERENCE   4  (bases 1 to 3143)
  AUTHORS   Valdes-Sanchez,L., Calado,S.M., de la Cerda,B., Aramburu,A.,
            Garcia-Delgado,A.B., Massalini,S., Montero-Sanchez,A., Bhatia,V.,
            Rodriguez-Bocanegra,E., Diez-Lloret,A., Rodriguez-Martinez,D.,
            Chakarova,C., Bhattacharya,S.S. and Diaz-Corrales,F.J.
  TITLE     Retinal pigment epithelium degeneration caused by aggregation of
            PRPF31 and the role of HSP70 family of proteins
  JOURNAL   Mol Med 26 (1), 1 (2019)
   PUBMED   31892304
  REMARK    GeneRIF: In a mouse model containing the p.A216P mutation in
            Prpf31, study found mislocalization and aggregation of the mutant
            Prpf31 protein with concomitant depletion of normal protein. These
            results indicate mixed haploinsufficiency and dominant negative
            mechanisms involved in retinal degeneration due to mutations in
            PRPF31.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3143)
  AUTHORS   Hamieh,A. and Nandrot,E.F.
  TITLE     Retinal Pigment Epithelial Cells: The Unveiled Component in the
            Etiology of Prpf Splicing Factor-Associated Retinitis Pigmentosa
  JOURNAL   Adv Exp Med Biol 1185, 227-231 (2019)
   PUBMED   31884616
  REMARK    GeneRIF: major retinal pigment epithelium defects were identified
            in Prpf31-mutant mice
REFERENCE   6  (bases 1 to 3143)
  AUTHORS   Graziotto,J.J., Farkas,M.H., Bujakowska,K., Deramaudt,B.M.,
            Zhang,Q., Nandrot,E.F., Inglehearn,C.F., Bhattacharya,S.S. and
            Pierce,E.A.
  TITLE     Three gene-targeted mouse models of RNA splicing factor RP show
            late-onset RPE and retinal degeneration
  JOURNAL   Invest Ophthalmol Vis Sci 52 (1), 190-198 (2011)
   PUBMED   20811066
  REMARK    GeneRIF: The finding of similar degenerative changes in RPE cells
            of all three mouse models suggests that the retinal pigment
            epithelium may be the primary cell type affected in the RNA
            splicing factor forms of retinitis pigmentosa.
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 3143)
  AUTHORS   Bujakowska,K., Maubaret,C., Chakarova,C.F., Tanimoto,N., Beck,S.C.,
            Fahl,E., Humphries,M.M., Kenna,P.F., Makarov,E., Makarova,O.,
            Paquet-Durand,F., Ekstrom,P.A., van Veen,T., Leveillard,T.,
            Humphries,P., Seeliger,M.W. and Bhattacharya,S.S.
  TITLE     Study of gene-targeted mouse models of splicing factor gene Prpf31
            implicated in human autosomal dominant retinitis pigmentosa (RP)
  JOURNAL   Invest Ophthalmol Vis Sci 50 (12), 5927-5933 (2009)
   PUBMED   19578015
  REMARK    GeneRIF: The results imply that Prpf31 is necessary for survival,
            and there is no compensation mechanism in mouse for the lack of
            this splicing factor
REFERENCE   8  (bases 1 to 3143)
  AUTHORS   Mordes,D., Yuan,L., Xu,L., Kawada,M., Molday,R.S. and Wu,J.Y.
  TITLE     Identification of photoreceptor genes affected by PRPF31 mutations
            associated with autosomal dominant retinitis pigmentosa
  JOURNAL   Neurobiol Dis 26 (2), 291-300 (2007)
   PUBMED   17350276
  REMARK    GeneRIF: Our results indicate that PRPF31 mutations lead to
            defective pre-mRNA splicing of photoreceptor-specific genes and
            that the ubiquitously expressed adRP gene, PRPF31, is critical for
            pre-mRNA splicing of a subset of photoreceptor genes.
REFERENCE   9  (bases 1 to 3143)
  AUTHORS   Yuan,L., Kawada,M., Havlioglu,N., Tang,H. and Wu,J.Y.
  TITLE     Mutations in PRPF31 inhibit pre-mRNA splicing of rhodopsin gene and
            cause apoptosis of retinal cells
  JOURNAL   J Neurosci 25 (3), 748-757 (2005)
   PUBMED   15659613
  REMARK    GeneRIF: Our results demonstrate that mutations in PRPF31 gene
            affect rhodopsin (RHO) pre-mRNA splicing and reveal a link between
            PRPF31 and RHO, two major genes in autosomal dominant retinitis
            pigmentosa.
REFERENCE   10 (bases 1 to 3143)
  AUTHORS   Makarova,O.V., Makarov,E.M., Liu,S., Vornlocher,H.P. and
            Luhrmann,R.
  TITLE     Protein 61K, encoded by a gene (PRPF31) linked to autosomal
            dominant retinitis pigmentosa, is required for U4/U6*U5 tri-snRNP
            formation and pre-mRNA splicing
  JOURNAL   EMBO J 21 (5), 1148-1157 (2002)
   PUBMED   11867543
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BB839183.1, AK033283.1, AK051260.1 and AC171680.5.
            
            On Apr 30, 2009 this sequence version replaced NM_027328.3.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: AK033190.1, AK051260.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-464               BB839183.1         2-465
            465-609             AK033283.1         430-574
            610-2906            AK051260.1         570-2866
            2907-3143           AC171680.5         55582-55818
FEATURES             Location/Qualifiers
     source          1..3143
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="7"
                     /map="7 2.09 cM"
     gene            1..3143
                     /gene="Prpf31"
                     /gene_synonym="1500019O16Rik; 2810404O06Rik; PRP31; RP11"
                     /note="pre-mRNA processing factor 31"
                     /db_xref="GeneID:68988"
                     /db_xref="MGI:MGI:1916238"
     exon            1..72
                     /gene="Prpf31"
                     /gene_synonym="1500019O16Rik; 2810404O06Rik; PRP31; RP11"
                     /inference="alignment:Splign:2.1.0"
     exon            73..257
                     /gene="Prpf31"
                     /gene_synonym="1500019O16Rik; 2810404O06Rik; PRP31; RP11"
                     /inference="alignment:Splign:2.1.0"
     CDS             81..1580
                     /gene="Prpf31"
                     /gene_synonym="1500019O16Rik; 2810404O06Rik; PRP31; RP11"
                     /note="isoform 1 is encoded by transcript variant 1; U4/U6
                     small nuclear ribonucleoprotein Prp31; protein 61K; U4/U6
                     snRNP 61 kDa protein; PRP31 pre-mRNA processing factor 31
                     homolog"
                     /codon_start=1
                     /product="U4/U6 small nuclear ribonucleoprotein Prp31
                     isoform 1"
                     /protein_id="NP_081604.3"
                     /db_xref="CCDS:CCDS39729.1"
                     /db_xref="GeneID:68988"
                     /db_xref="MGI:MGI:1916238"
                     /translation="MSLADELLADLEEAAEEEEGGSYGEEEEEPAIEDVQEETQLDLS
                     GDSVKSIAKLWDSKMFAEIMMKIEEYISKQANVSEVMGPVEAAPEYRVIVDANNLTVE
                     IENELNIIHKFIRDKYSKRFPELESLVPNALDYIRTVKELGNSLDKCKNNENLQQILT
                     NATIMVVSVTASTTQGQQLSDEELERLEEACDMALELNASKHRIYEYVESRMSFIAPN
                     LSIIIGASTAAKIMGVAGGLTNLSKMPACNIMLLGAQRKTLSGFSSTSVLPHTGYIYH
                     SDIVQSLPPDLRRKAARLVAAKCTLAARVDSFHESTEGKVGYELKDEIERKFDKWQEP
                     PPVKQVKPLPAPLDGQRKKRGGRRYRKMKERLGLTEIRKQANRMSFGEIEEDAYQEDL
                     GFSLGHLGKSGSGRVRQTQVNEATKARISKTLQRTLQKQSVVYGGKSTIRDRSSGTAS
                     SVAFTPLQGLEIVNPQAAEKKVAEANQKYFSSMAEFLKVKGEKSGTMST"
     exon            258..318
                     /gene="Prpf31"
                     /gene_synonym="1500019O16Rik; 2810404O06Rik; PRP31; RP11"
                     /inference="alignment:Splign:2.1.0"
     exon            319..402
                     /gene="Prpf31"
                     /gene_synonym="1500019O16Rik; 2810404O06Rik; PRP31; RP11"
                     /inference="alignment:Splign:2.1.0"
     exon            403..500
                     /gene="Prpf31"
                     /gene_synonym="1500019O16Rik; 2810404O06Rik; PRP31; RP11"
                     /inference="alignment:Splign:2.1.0"
     exon            501..607
                     /gene="Prpf31"
                     /gene_synonym="1500019O16Rik; 2810404O06Rik; PRP31; RP11"
                     /inference="alignment:Splign:2.1.0"
     exon            608..777
                     /gene="Prpf31"
                     /gene_synonym="1500019O16Rik; 2810404O06Rik; PRP31; RP11"
                     /inference="alignment:Splign:2.1.0"
     exon            778..935
                     /gene="Prpf31"
                     /gene_synonym="1500019O16Rik; 2810404O06Rik; PRP31; RP11"
                     /inference="alignment:Splign:2.1.0"
     exon            936..1025
                     /gene="Prpf31"
                     /gene_synonym="1500019O16Rik; 2810404O06Rik; PRP31; RP11"
                     /inference="alignment:Splign:2.1.0"
     exon            1026..1153
                     /gene="Prpf31"
                     /gene_synonym="1500019O16Rik; 2810404O06Rik; PRP31; RP11"
                     /inference="alignment:Splign:2.1.0"
     exon            1154..1226
                     /gene="Prpf31"
                     /gene_synonym="1500019O16Rik; 2810404O06Rik; PRP31; RP11"
                     /inference="alignment:Splign:2.1.0"
     exon            1227..1355
                     /gene="Prpf31"
                     /gene_synonym="1500019O16Rik; 2810404O06Rik; PRP31; RP11"
                     /inference="alignment:Splign:2.1.0"
     exon            1356..1454
                     /gene="Prpf31"
                     /gene_synonym="1500019O16Rik; 2810404O06Rik; PRP31; RP11"
                     /inference="alignment:Splign:2.1.0"
     exon            1455..3143
                     /gene="Prpf31"
                     /gene_synonym="1500019O16Rik; 2810404O06Rik; PRP31; RP11"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1861..1866
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Prpf31"
                     /gene_synonym="1500019O16Rik; 2810404O06Rik; PRP31; RP11"
                     /note="hexamer: ATTAAA"
     polyA_site      1887
                     /gene="Prpf31"
                     /gene_synonym="1500019O16Rik; 2810404O06Rik; PRP31; RP11"
                     /note="major polyA site"
ORIGIN      
        1 aaacgtcatc aaagagagcc gaagctctgg ggaagcagat ttcttggaaa cgattgtgag
       61 aggatcgaag cggccttggg atgtctctgg ctgatgagct cttggctgac ctcgaggagg
      121 cagcagaaga agaggaagga ggaagctatg gagaagagga ggaggagcca gcaattgagg
      181 atgtacagga ggagacccag ctggatcttt ctggagattc agtcaagagc attgccaagc
      241 tatgggacag caagatgttt gctgagatca tgatgaagat tgaggagtat atcagcaagc
      301 aagccaacgt gtcggaagtg atgggaccag tggaggcagc tcctgagtac cgagtcattg
      361 tggatgccaa caacctgact gtggagatag aaaatgagct gaacattatc cacaagttca
      421 tccgggataa atactcaaag agattccctg agctagaatc cttggtgccc aatgctctgg
      481 attacatccg cacagtcaag gagctgggca acagcctgga taagtgcaag aacaatgaga
      541 acctccagca gatcctgacc aatgctacta tcatggttgt tagtgtcact gcctctacta
      601 cccaggggca gcagctgtcg gatgaggagc tagagcggct agaggaggcc tgtgacatgg
      661 cactggagct gaatgcctcc aaacaccgca tctatgagta tgtggagtcc cggatgtcct
      721 tcattgcacc caacttgtcc atcatcattg gagcatccac agctgccaag atcatgggtg
      781 tggctggagg gctcaccaac ctctctaaga tgcctgcctg caacatcatg ctgctgggag
      841 cccagcgcaa gaccctgtct ggcttctctt ctacctcagt gttgcctcat actggttata
      901 tctaccacag tgacattgtg cagtctctgc ccccagatct ccggcggaag gcggcccgcc
      961 tagtggctgc caagtgtaca ctggcagctc gtgtggacag cttccatgag agcacagaag
     1021 ggaaggtggg ctacgaacta aaggatgaga ttgagcgcaa atttgataag tggcaggagc
     1081 caccacccgt gaagcaggtg aagcccctgc ctgcacccct tgatgggcag cggaagaagc
     1141 gagggggccg aaggtaccgc aagatgaagg aacggctagg actgacggag atccggaagc
     1201 aggccaaccg catgagcttt ggagagattg aggaggatgc ctatcaggaa gacctgggct
     1261 ttagcctggg ccacttgggc aagtcaggca gtgggcgtgt gcggcagacc caggtgaatg
     1321 aggccaccaa ggccaggatc tccaagacac tgcagcggac cttacagaaa cagagcgtgg
     1381 tgtatggtgg gaagtcaaca attcgtgacc gctcctcagg gactgcctcc agtgtggcct
     1441 tcactccact ccagggtcta gagattgtga acccacaagc agccgagaag aaggtggcag
     1501 aggccaacca gaagtatttc tctagcatgg ccgagttcct caaggtcaag ggtgagaaaa
     1561 gtggcaccat gtctacctga aggagcccgc actccaggtg accatccact gaaaggacat
     1621 aaaggactgg agcttctgaa gtgacagata tccagccagg aagttgtggt gtggtggagg
     1681 cagccttcca tgctttgcct ttggcccaag gccatagcat ccaagaaaaa ggatgaagaa
     1741 ccttagcctg cctcccccag catccatgct gctgcttccc taaacgggca gaaaggtctt
     1801 cctcacactc agctttttta cttacagggg gaaaggcagt gcttttatag aacgagtaca
     1861 attaaatgtg tagtgtcggg ctctgaacag agggtgtgag tgattatgaa agaaccaaag
     1921 gactcagagc tgtggggctt ccagtgtgag cagcatggac ccagctctct tctgctctta
     1981 tcctggaatc taagaaaaac cctgtctatc tctaacacca tcacctgccc catgagaaca
     2041 tcagcatcat ggccaccaca aaactccagg acccaacaag acccacaggg ttgttgtccc
     2101 tcaggctaga caccttggtc caagaaacat ccacacaaaa tgaagcacgt aaaagccttg
     2161 gaaagtgtgt acagaaagca cccacccagt tctgcattca tggtggagcc tattgtttta
     2221 attcatgttt gatgaggggt ccaagcctag gtcctcagca agggtgaggc aggcgggtgt
     2281 cctgtgggag ggaccaatgc caggcaagca aaagaagtgc acaccaccca gtctgacttg
     2341 cgagccgggg cttcaaggga gaacgttgaa cagtgcgaac tgtgtctggt ttgttatgag
     2401 tctgtcgttc tctgagggag agtagctgct gggctccatt ttctctgctt aaggttagct
     2461 ctgttggtct aaatgtagat gtagctggtg aggttagggc tttctatctt gggcttcctg
     2521 gtctctattc ctctctacat actgtatctt aatcgtagtc ccccgtgggt ctgttgggga
     2581 aagccctttg tctgtcactt cccttagaac ccctactctg tccctggcct gacttcattc
     2641 tgactttgcc agtgttgagt ggagtgaagt atgaagatgt gagtctcgga attcaagatg
     2701 ctgcagaatg tcttgaggac tcactaagat atggttgctg gtcgtaaagt ttgatttcac
     2761 ttttgctaag atagagctca aaaaatgtgt atttaagcct gtaatcctac ttactcagga
     2821 gacttttgag gcagaagggt tggaagtact taggctacac agttgagttc aaggtcagcc
     2881 taggctgtag gaaaaagcca gtgtccaaaa aagaaaggaa ggaagaaagc aagcaagcaa
     2941 gctagggaga tctggcaaga tagcactgtt ggtaaagtgt atttcataaa aacatgggaa
     3001 ccttggaagg cagaagcagg cagatctctg agtctaaaga cagcctggtg tacagagtaa
     3061 gttccaggac attgagggct acacagagaa accctgtctt gaaaaacccc aaaaccaaaa
     3121 taaagccaaa acaacagcat aaa
//
