LOCUS       NM_024321               1692 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens RNA binding motif protein 42 (RBM42), transcript
            variant 1, mRNA.
ACCESSION   NM_024321
VERSION     NM_024321.5
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 1692)
  AUTHORS   Chen,Y., Yang,B., Zhang,X.M., Chen,S., Wang,M., Hu,L., Pan,N.,
            Li,S., Shi,W., Yang,Z., Wang,L., Tan,Y., Wang,J., Wang,Y., Xing,Q.,
            Ma,Z., Li,J., Huang,H.F., Zhang,J. and Xu,C.
  TITLE     Biallelic variants in RBM42 cause a multisystem disorder with
            neurological, facial, cardiac, and musculoskeletal involvement
  JOURNAL   Protein Cell 15 (1), 52-68 (2024)
   PUBMED   37294900
  REMARK    GeneRIF: Biallelic variants in RBM42 cause a multisystem disorder
            with neurological, facial, cardiac, and musculoskeletal
            involvement.
REFERENCE   2  (bases 1 to 1692)
  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   3  (bases 1 to 1692)
  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   4  (bases 1 to 1692)
  AUTHORS   Charenton,C., Wilkinson,M.E. and Nagai,K.
  TITLE     Mechanism of 5' splice site transfer for human spliceosome
            activation
  JOURNAL   Science 364 (6438), 362-367 (2019)
   PUBMED   30975767
REFERENCE   5  (bases 1 to 1692)
  AUTHORS   Chen,S., Fragoza,R., Klei,L., Liu,Y., Wang,J., Roeder,K., Devlin,B.
            and Yu,H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   6  (bases 1 to 1692)
  AUTHORS   Suvorova,E.S., Croken,M., Kratzer,S., Ting,L.M., Conde de
            Felipe,M., Balu,B., Markillie,M.L., Weiss,L.M., Kim,K. and
            White,M.W.
  TITLE     Discovery of a splicing regulator required for cell cycle
            progression
  JOURNAL   PLoS Genet 9 (2), e1003305 (2013)
   PUBMED   23437009
REFERENCE   7  (bases 1 to 1692)
  AUTHORS   Castello,A., Fischer,B., Eichelbaum,K., Horos,R., Beckmann,B.M.,
            Strein,C., Davey,N.E., Humphreys,D.T., Preiss,T., Steinmetz,L.M.,
            Krijgsveld,J. and Hentze,M.W.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   8  (bases 1 to 1692)
  AUTHORS   Hegele,A., Kamburov,A., Grossmann,A., Sourlis,C., Wowro,S.,
            Weimann,M., Will,C.L., Pena,V., Luhrmann,R. and Stelzl,U.
  TITLE     Dynamic protein-protein interaction wiring of the human spliceosome
  JOURNAL   Mol Cell 45 (4), 567-580 (2012)
   PUBMED   22365833
REFERENCE   9  (bases 1 to 1692)
  AUTHORS   Fukuda,T., Naiki,T., Saito,M. and Irie,K.
  TITLE     hnRNP K interacts with RNA binding motif protein 42 and functions
            in the maintenance of cellular ATP level during stress conditions
  JOURNAL   Genes Cells 14 (2), 113-128 (2009)
   PUBMED   19170760
  REMARK    GeneRIF: hnRNP K and RBM42 have a role in the maintenance of
            cellular ATP level in the stress conditions possibly through
            protecting their target mRNAs.
REFERENCE   10 (bases 1 to 1692)
  AUTHORS   Lim,J., Hao,T., Shaw,C., Patel,A.J., Szabo,G., Rual,J.F.,
            Fisk,C.J., Li,N., Smolyar,A., Hill,D.E., Barabasi,A.L., Vidal,M.
            and Zoghbi,H.Y.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY031737.1 and BC004204.2.
            
            On Nov 23, 2018 this sequence version replaced NM_024321.4.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1125032.1,
                                           SRR3476690.164437.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000262633.9/ ENSP00000262633.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-42                HY031737.1         22-63
            43-1692             BC004204.2         1-1650
FEATURES             Location/Qualifiers
     source          1..1692
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     gene            1..1692
                     /gene="RBM42"
                     /note="RNA binding motif protein 42"
                     /db_xref="GeneID:79171"
                     /db_xref="HGNC:HGNC:28117"
                     /db_xref="MIM:613232"
     exon            1..246
                     /gene="RBM42"
                     /inference="alignment:Splign:2.1.0"
     CDS             119..1561
                     /gene="RBM42"
                     /note="isoform 1 is encoded by transcript variant 1;
                     RNA-binding protein 42"
                     /codon_start=1
                     /product="RNA-binding protein 42 isoform 1"
                     /protein_id="NP_077297.2"
                     /db_xref="CCDS:CCDS12468.1"
                     /db_xref="GeneID:79171"
                     /db_xref="HGNC:HGNC:28117"
                     /db_xref="MIM:613232"
                     /translation="MAGAGPAPGLPGAGGPVVPGPGAGIPGKSGEERLKEMEAEMALF
                     EQEVLGAPVPGIPTAVPAVPTVPTVPTVEAMQVPAAPVIRPIIATNTYQQVQQTLEAR
                     AAAAATVVPPMVGGPPFVGPVGFGPGDRSHLDSPEAREAMFLRRAAVAPQRAPILRPA
                     FVPHVLQRADSALSSAAAGPRPMALRPPHQALVGPPLPGPPGPPMMLPPMARAPGPPL
                     GSMAALRPPLEEPAAPRELGLGLGLGLKEKEEAVVAAAAGLEEASAAVAVGAGGAPAG
                     PAVIGPSLPLALAMPLPEPEPLPLPLEVVRGLLPPLRIPELLSLRPRPRPPRPEPPPG
                     LMALEVPEPLGEDKKKGKPEKLKRCIRTAAGSSWEDPSLLEWDADDFRIFCGDLGNEV
                     NDDILARAFSRFPSFLKAKVIRDKRTGKTKGYGFVSFKDPSDYVRAMREMNGKYVGSR
                     PIKLRKSMWKDRNLDVVRKKQKEKKKLGLR"
     exon            247..400
                     /gene="RBM42"
                     /inference="alignment:Splign:2.1.0"
     exon            401..485
                     /gene="RBM42"
                     /inference="alignment:Splign:2.1.0"
     exon            486..560
                     /gene="RBM42"
                     /inference="alignment:Splign:2.1.0"
     exon            561..626
                     /gene="RBM42"
                     /inference="alignment:Splign:2.1.0"
     exon            627..802
                     /gene="RBM42"
                     /inference="alignment:Splign:2.1.0"
     exon            803..1135
                     /gene="RBM42"
                     /inference="alignment:Splign:2.1.0"
     exon            1136..1253
                     /gene="RBM42"
                     /inference="alignment:Splign:2.1.0"
     exon            1254..1448
                     /gene="RBM42"
                     /inference="alignment:Splign:2.1.0"
     exon            1449..1692
                     /gene="RBM42"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1671..1676
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RBM42"
                     /note="hexamer: AATAAA"
     polyA_site      1692
                     /gene="RBM42"
                     /note="major polyA site"
ORIGIN      
        1 gcttttgctg gacgtcatcc tcgggagccc acccggacga agggggagag tagacagcag
       61 aaccagcggc ggcggctaag cagagactgt agtagcggcg acagcgacga cggcagcgat
      121 ggctggggcg gggccagccc cgggactccc gggtgcagga ggacccgtgg tcccgggtcc
      181 tggcgctggc atcccgggca aaagcggcga ggaacgcttg aaggaaatgg aggcggagat
      241 ggccctgttt gagcaggaag ttctgggggc tccagtacct ggaatcccaa ctgctgtgcc
      301 tgcggtgccc actgtcccca cggtccccac agtagaagcg atgcaggtcc cagcggctcc
      361 tgtgatccgc ccaattatcg cgaccaacac ataccagcag gtccagcaga ctctggaggc
      421 ccgagcagct gctgcagcca cagtagttcc tcccatggtg ggtggccctc cttttgtagg
      481 ccctgttggc tttggccctg gtgatcggag tcacctggac agcccagagg ctcgagaagc
      541 catgttcctg cggcgggcag ctgtggcccc ccagagggcc cctatcctgc gtccagcctt
      601 cgtcccccac gtgctacaga gagcagattc cgctctctcc tctgcagcag ccggcccccg
      661 ccctatggcc ctacggcccc ctcaccaggc cctcgtgggc ccccctctgc ctgggccccc
      721 tggaccaccc atgatgctgc caccaatggc tcgggctcca gggcccccgc tgggctccat
      781 ggctgcactg aggccccctc tggaagagcc agcagcaccc cgagagctgg gcctaggcct
      841 ggggttgggc ctgaaagaga aggaagaggc agtggtggcg gcggcggctg ggctggagga
      901 ggctagcgcg gctgtggccg tgggggcagg aggtgcccca gctggccctg cagtcattgg
      961 gcccagcctg ccgctggccc tggccatgcc attgcccgag cctgagcccc tgcccctccc
     1021 gttggaggtc gtccgcggcc tcctgccccc gctgcgcatt cctgaactcc tgtccctgcg
     1081 tcctcggccc cggccccctc ggccagagcc acccccaggc ctcatggctc ttgaggtccc
     1141 agagcccctg ggtgaagaca agaagaaggg gaagccagag aaattgaaac ggtgcattcg
     1201 cacagcggca gggagcagct gggaggaccc cagcctgctg gagtgggatg cagatgactt
     1261 ccggatcttc tgtggggatc tgggcaatga ggtgaacgat gacatcttgg cacgcgcctt
     1321 cagccgcttc ccatccttcc ttaaggccaa ggtgatccgt gacaagcgca caggcaagac
     1381 caagggctac ggcttcgtca gcttcaagga ccccagcgac tacgtgcgcg ccatgcgtga
     1441 gatgaatggg aagtatgtgg gctcgcgccc catcaagctt cgcaagagca tgtggaagga
     1501 ccggaatctg gacgtggtcc gcaagaagca gaaggaaaag aagaagctgg gcctgagata
     1561 gggtctgtgg ccaggcaccc gctcccacct ggccgggcgc tggctcctcc ctcagttctc
     1621 tttggaaaac ccccagctgt ccacccatcc cctgccccaa aaccagtttc aataaattta
     1681 cgttcatttc ca
//
