LOCUS       NM_027193               1571 bp    mRNA    linear   ROD 07-FEB-2025
DEFINITION  Mus musculus diphthamide biosynthesis 5 (Dph5), mRNA.
ACCESSION   NM_027193 XM_987079
VERSION     NM_027193.3
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 1571)
  AUTHORS   Shankar,S.P., Grimsrud,K., Lanoue,L., Egense,A., Willis,B.,
            Horberg,J., AlAbdi,L., Mayer,K., Utkur,K., Monaghan,K.G., Krier,J.,
            Stoler,J., Alnemer,M., Shankar,P.R., Schaffrath,R., Alkuraya,F.S.,
            Brinkmann,U., Eriksson,L.A., Lloyd,K. and Rauen,K.A.
  CONSRTM   Undiagnosed Diseases Network
  TITLE     A novel DPH5-related diphthamide-deficiency syndrome causing
            embryonic lethality or profound neurodevelopmental disorder
  JOURNAL   Genet Med 24 (7), 1567-1582 (2022)
   PUBMED   35482014
  REMARK    GeneRIF: A novel DPH5-related diphthamide-deficiency syndrome
            causing embryonic lethality or profound neurodevelopmental
            disorder.
            Erratum:[Genet Med. 2022 Oct;24(10):2207. doi:
            10.1016/j.gim.2022.07.021.. PMID: 36205747]
REFERENCE   2  (bases 1 to 1571)
  AUTHORS   Young,J.E., Garden,G.A., Martinez,R.A., Tanaka,F., Sandoval,C.M.,
            Smith,A.C., Sopher,B.L., Lin,A., Fischbeck,K.H., Ellerby,L.M.,
            Morrison,R.S., Taylor,J.P. and La Spada,A.R.
  TITLE     Polyglutamine-expanded androgen receptor truncation fragments
            activate a Bax-dependent apoptotic cascade mediated by DP5/Hrk
  JOURNAL   J Neurosci 29 (7), 1987-1997 (2009)
   PUBMED   19228953
  REMARK    GeneRIF: Misfolded AR protein in the cytosol thus initiates a
            cascade of events beginning with JNK and culminating in
            Bax-dependent, intrinsic pathway activation, mediated in part by
            DP5/Hrk.
REFERENCE   3  (bases 1 to 1571)
  AUTHORS   Liu,S., Milne,G.T., Kuremsky,J.G., Fink,G.R. and Leppla,S.H.
  TITLE     Identification of the proteins required for biosynthesis of
            diphthamide, the target of bacterial ADP-ribosylating toxins on
            translation elongation factor 2
  JOURNAL   Mol Cell Biol 24 (21), 9487-9497 (2004)
   PUBMED   15485916
REFERENCE   4  (bases 1 to 1571)
  AUTHORS   Stryke,D., Kawamoto,M., Huang,C.C., Johns,S.J., King,L.A.,
            Harper,C.A., Meng,E.C., Lee,R.E., Yee,A., L'Italien,L.,
            Chuang,P.T., Young,S.G., Skarnes,W.C., Babbitt,P.C. and Ferrin,T.E.
  TITLE     BayGenomics: a resource of insertional mutations in mouse embryonic
            stem cells
  JOURNAL   Nucleic Acids Res 31 (1), 278-281 (2003)
   PUBMED   12520002
REFERENCE   5  (bases 1 to 1571)
  AUTHORS   Moehring,J.M. and Moehring,T.J.
  TITLE     The post-translational trimethylation of diphthamide studied in
            vitro
  JOURNAL   J Biol Chem 263 (8), 3840-3844 (1988)
   PUBMED   3346227
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC131113.4.
            
            On Mar 24, 2023 this sequence version replaced NM_027193.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC060372.1, AK010475.1 [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##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-113               AC131113.4         83636-83748
            114-271             AC131113.4         83911-84068
            272-396             AC131113.4         88183-88307
            397-505             AC131113.4         95166-95274
            506-626             AC131113.4         110511-110631
            627-666             AC131113.4         120683-120722
            667-770             AC131113.4         122168-122271
            771-1571            AC131113.4         123980-124780
FEATURES             Location/Qualifiers
     source          1..1571
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="3"
                     /map="3 50.13 cM"
     gene            1..1571
                     /gene="Dph5"
                     /gene_synonym="2410012M04Rik"
                     /note="diphthamide biosynthesis 5"
                     /db_xref="GeneID:69740"
                     /db_xref="MGI:MGI:1916990"
     exon            1..113
                     /gene="Dph5"
                     /gene_synonym="2410012M04Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            114..271
                     /gene="Dph5"
                     /gene_synonym="2410012M04Rik"
                     /inference="alignment:Splign:2.1.0"
     CDS             137..982
                     /gene="Dph5"
                     /gene_synonym="2410012M04Rik"
                     /EC_number="2.1.1.314"
                     /note="diphthine synthase; diphthamide biosynthesis
                     methyltransferase; DPH5 homolog"
                     /codon_start=1
                     /product="diphthine methyl ester synthase"
                     /protein_id="NP_081469.2"
                     /db_xref="CCDS:CCDS17782.1"
                     /db_xref="GeneID:69740"
                     /db_xref="MGI:MGI:1916990"
                     /translation="MLYLIGLGLGDAKDITVKGLEVVRRCSRVYLEAYTSVLTVGKEA
                     LEEFYGRKLILADREEVEQEADNIFKDADVSDVAFLVVGDPFGATTHSDLILRATKLG
                     IPYQVIHNASIMNAVGCCGLQLYRFGETVSIVFWTDTWRPESFFDKVKRNRANGMHTL
                     CLLDIKVKEQSLENLIRGRKIYEPPRYMSVNQAAQQLLEIVQNHRARGEEPAITEETL
                     CVGLARVGAEDQKIAAGTLQQMCTVSLGEPLHSLVITGGNLHPLEMEMLSLFSIPESQ
                     STDGL"
     exon            272..396
                     /gene="Dph5"
                     /gene_synonym="2410012M04Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            397..505
                     /gene="Dph5"
                     /gene_synonym="2410012M04Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            506..626
                     /gene="Dph5"
                     /gene_synonym="2410012M04Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            627..666
                     /gene="Dph5"
                     /gene_synonym="2410012M04Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            667..770
                     /gene="Dph5"
                     /gene_synonym="2410012M04Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            771..1571
                     /gene="Dph5"
                     /gene_synonym="2410012M04Rik"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1328..1333
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Dph5"
                     /gene_synonym="2410012M04Rik"
                     /note="hexamer: AATAAA"
     polyA_site      1350
                     /gene="Dph5"
                     /gene_synonym="2410012M04Rik"
                     /note="major polyA site"
     regulatory      1553..1558
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Dph5"
                     /gene_synonym="2410012M04Rik"
                     /note="hexamer: AATAAA"
     polyA_site      1571
                     /gene="Dph5"
                     /gene_synonym="2410012M04Rik"
ORIGIN      
        1 gagacccgga agctctgtct ctgatgggca catggtttgg ggactgcaat tattaaaagg
       61 ctgcagtgag actttgaggg acgtcagcga atcacctccg agtctctaag cggtctcccc
      121 atccctggag ttcggaatgc tttacttgat cggcttgggc ctgggagatg ccaaggacat
      181 cacagtcaag ggcctggaag ttgtgagacg atgcagtcgc gtgtatctgg aagcctacac
      241 ctcagtcctg actgtaggga aggaagccct ggaagagttt tatggaagaa aattgattct
      301 tgctgacaga gaagaagtag aacaagaagc agataatatt tttaaggatg cagatgtcag
      361 tgatgttgcg ttccttgtgg ttggtgatcc atttggggct acaacacaca gtgatcttat
      421 tctgagagca acaaagttgg gcatccctta tcaagttatt cacaatgcct ccataatgaa
      481 cgctgtaggc tgctgtggtt tgcagttgta caggtttgga gaaacagttt ctattgtgtt
      541 ttggacggac acttggcgac cagagagctt ctttgacaag gtgaagagga accgggccaa
      601 tggcatgcac acgctgtgct tactcgatat caaagtgaag gagcagtctc tggagaacct
      661 catcagagga agaaagatct atgaaccccc tcggtacatg agtgtgaacc aggcggccca
      721 gcagcttcta gagattgttc agaatcacag agcacgcggg gaggaaccag caatcactga
      781 ggagacactc tgtgtcggct tagccagagt gggagctgaa gatcagaaaa ttgcagcagg
      841 cacgttacag cagatgtgca cagtgagctt gggagaacca ctgcattctt tggtcattac
      901 agggggcaac ctgcacccac tggagatgga gatgctaagt ctcttctcta taccggaatc
      961 ccagagtact gatggactct gagcatggac attttctgtt gtctcacgat catttcagtg
     1021 agattggggt gtgtgtggta tttatatgtc aaatggcatg gctctgtcat ttatgaagaa
     1081 gatataaccg aagtgaccaa gaagaagcag gttgaacgac agcgtttggt ttcctgcggc
     1141 agcttccccc attccatcgt gagtttccta ctcgtcaggg tgcacacacg tgggcagatg
     1201 gagctgaaaa agggagccaa gtcgatgcaa ggaggtggag accaagaata acgtgaggaa
     1261 actggacaat gaatcacttg aactctgatt ttcagggaca aagcagcatg aatcagcaag
     1321 aaaagcaaat aaaagattgc taactcttca tatattgttt tataatctcc tttataaaag
     1381 gtagctgtca ggctggagag atggctcagt ggttaagagc actgactgct cttccagagg
     1441 tcctgagttc aattcccagc aaccacatgg tggctcacaa ccatctgtaa tgggatctga
     1501 tgctctcttc tggtgtgtct gaagacaggt aatcgtgtat tcatatatat aaaataaata
     1561 aataagtctt t
//
