LOCUS       NM_015958               1768 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens diphthamide biosynthesis 5 (DPH5), transcript variant
            2, mRNA.
ACCESSION   NM_015958
VERSION     NM_015958.3
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 1768)
  AUTHORS   Avery,C.L., Sitlani,C.M., Arking,D.E., Arnett,D.K., Bis,J.C.,
            Boerwinkle,E., Buckley,B.M., Ida Chen,Y.D., de Craen,A.J.,
            Eijgelsheim,M., Enquobahrie,D., Evans,D.S., Ford,I., Garcia,M.E.,
            Gudnason,V., Harris,T.B., Heckbert,S.R., Hochner,H., Hofman,A.,
            Hsueh,W.C., Isaacs,A., Jukema,J.W., Knekt,P., Kors,J.A.,
            Krijthe,B.P., Kristiansson,K., Laaksonen,M., Liu,Y., Li,X.,
            Macfarlane,P.W., Newton-Cheh,C., Nieminen,M.S., Oostra,B.A.,
            Peloso,G.M., Porthan,K., Rice,K., Rivadeneira,F.F., Rotter,J.I.,
            Salomaa,V., Sattar,N., Siscovick,D.S., Slagboom,P.E., Smith,A.V.,
            Sotoodehnia,N., Stott,D.J., Stricker,B.H., Sturmer,T., Trompet,S.,
            Uitterlinden,A.G., van Duijn,C., Westendorp,R.G., Witteman,J.C.,
            Whitsel,E.A. and Psaty,B.M.
  TITLE     Drug-gene interactions and the search for missing heritability: a
            cross-sectional pharmacogenomics study of the QT interval
  JOURNAL   Pharmacogenomics J 14 (1), 6-13 (2014)
   PUBMED   23459443
REFERENCE   2  (bases 1 to 1768)
  AUTHORS   Wei,H., Bera,T.K., Wayne,A.S., Xiang,L., Colantonio,S., Chertov,O.
            and Pastan,I.
  TITLE     A modified form of diphthamide causes immunotoxin resistance in a
            lymphoma cell line with a deletion of the WDR85 gene
  JOURNAL   J Biol Chem 288 (17), 12305-12312 (2013)
   PUBMED   23486472
REFERENCE   3  (bases 1 to 1768)
  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
  REMARK    GeneRIF: The yeast and Chinese hamster homologs of human DPH5
            catalyze the trimethylation step in the biosynthesis of diphthamide
REFERENCE   4  (bases 1 to 1768)
  AUTHORS   Hu,R.M., Han,Z.G., Song,H.D., Peng,Y.D., Huang,Q.H., Ren,S.X.,
            Gu,Y.J., Huang,C.H., Li,Y.B., Jiang,C.L., Fu,G., Zhang,Q.H.,
            Gu,B.W., Dai,M., Mao,Y.F., Gao,G.F., Rong,R., Ye,M., Zhou,J.,
            Xu,S.H., Gu,J., Shi,J.X., Jin,W.R., Zhang,C.K., Wu,T.M.,
            Huang,G.Y., Chen,Z., Chen,M.D. and Chen,J.L.
  TITLE     Gene expression profiling in the human
            hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 97 (17), 9543-9548 (2000)
   PUBMED   10931946
REFERENCE   5  (bases 1 to 1768)
  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     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA133565.1, BC053857.1,
            AK125485.1 and BM808505.1.
            
            On Nov 22, 2018 this sequence version replaced NM_015958.2.
            
            Summary: This gene encodes a component of the diphthamide synthesis
            pathway. Diphthamide is a post-translationally modified histidine
            residue found only on translation elongation factor 2. It is
            conserved from archaebacteria to humans, and is targeted by
            diphtheria toxin and Pseudomonas exotoxin A to halt cellular
            protein synthesis. The yeast and Chinese hamster homologs of this
            protein catalyze the trimethylation of the histidine residue on
            elongation factor 2, resulting in a diphthine moiety that is
            subsequently amidated to yield diphthamide. Multiple transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 encode the same isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163658.538689.1,
                                           SRR1660807.20674.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370109.8/ ENSP00000359127.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                DA133565.1         23-34
            13-1328             BC053857.1         1-1316
            1329-1764           AK125485.1         1720-2155
            1765-1768           BM808505.1         604-607
FEATURES             Location/Qualifiers
     source          1..1768
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p21.2"
     gene            1..1768
                     /gene="DPH5"
                     /gene_synonym="AD-018; CGI-30; HSPC143; NEDSFF; NPD015"
                     /note="diphthamide biosynthesis 5"
                     /db_xref="GeneID:51611"
                     /db_xref="HGNC:HGNC:24270"
                     /db_xref="MIM:611075"
     exon            1..102
                     /gene="DPH5"
                     /gene_synonym="AD-018; CGI-30; HSPC143; NEDSFF; NPD015"
                     /inference="alignment:Splign:2.1.0"
     exon            103..260
                     /gene="DPH5"
                     /gene_synonym="AD-018; CGI-30; HSPC143; NEDSFF; NPD015"
                     /inference="alignment:Splign:2.1.0"
     CDS             126..983
                     /gene="DPH5"
                     /gene_synonym="AD-018; CGI-30; HSPC143; NEDSFF; NPD015"
                     /EC_number="2.1.1.314"
                     /note="isoform a is encoded by transcript variant 2;
                     diphthamide biosynthesis methyltransferase; diphthine
                     synthase; protein x 0011; DPH5 homolog; diphthine methyl
                     ester synthase"
                     /codon_start=1
                     /product="diphthine methyl ester synthase isoform a"
                     /protein_id="NP_057042.2"
                     /db_xref="CCDS:CCDS41358.1"
                     /db_xref="GeneID:51611"
                     /db_xref="HGNC:HGNC:24270"
                     /db_xref="MIM:611075"
                     /translation="MLYLIGLGLGDAKDITVKGLEVVRRCSRVYLEAYTSVLTVGKEA
                     LEEFYGRKLVVADREEVEQEADNILKDADISDVAFLVVGDPFGATTHSDLVLRATKLG
                     IPYRVIHNASIMNAVGCCGLQLYKFGETVSIVFWTDTWRPESFFDKVKKNRQNGMHTL
                     CLLDIKVKEQSLENLIKGRKIYEPPRYMSVNQAAQQLLEIVQNQRIRGEEPAVTEETL
                     CVGLARVGADDQKIAAGTLRQMCTVDLGEPLHSLIITGGSIHPMEMEMLSLFSIPENS
                     SESQSINGL"
     exon            261..385
                     /gene="DPH5"
                     /gene_synonym="AD-018; CGI-30; HSPC143; NEDSFF; NPD015"
                     /inference="alignment:Splign:2.1.0"
     exon            386..494
                     /gene="DPH5"
                     /gene_synonym="AD-018; CGI-30; HSPC143; NEDSFF; NPD015"
                     /inference="alignment:Splign:2.1.0"
     exon            495..615
                     /gene="DPH5"
                     /gene_synonym="AD-018; CGI-30; HSPC143; NEDSFF; NPD015"
                     /inference="alignment:Splign:2.1.0"
     exon            616..655
                     /gene="DPH5"
                     /gene_synonym="AD-018; CGI-30; HSPC143; NEDSFF; NPD015"
                     /inference="alignment:Splign:2.1.0"
     exon            656..759
                     /gene="DPH5"
                     /gene_synonym="AD-018; CGI-30; HSPC143; NEDSFF; NPD015"
                     /inference="alignment:Splign:2.1.0"
     exon            760..1768
                     /gene="DPH5"
                     /gene_synonym="AD-018; CGI-30; HSPC143; NEDSFF; NPD015"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1308..1313
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DPH5"
                     /gene_synonym="AD-018; CGI-30; HSPC143; NEDSFF; NPD015"
                     /note="hexamer: ATTAAA"
     polyA_site      1328
                     /gene="DPH5"
                     /gene_synonym="AD-018; CGI-30; HSPC143; NEDSFF; NPD015"
                     /note="major polyA site"
     regulatory      1752..1757
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DPH5"
                     /gene_synonym="AD-018; CGI-30; HSPC143; NEDSFF; NPD015"
                     /note="hexamer: AGTAAA"
     polyA_site      1768
                     /gene="DPH5"
                     /gene_synonym="AD-018; CGI-30; HSPC143; NEDSFF; NPD015"
ORIGIN      
        1 cttttctctg cacggagccg gcgcttttgc agttgcttct gcggaaaggt ggtagttaag
       61 aatttgtaaa ggccagagaa ctacctacga ttctctcagc ggtctctctt ctcctcaagt
      121 ttgaaatgct ttatctcatc gggttgggcc tgggagatgc caaggacatc acagtcaagg
      181 gcctggaagt tgttagacgc tgcagtcgag tgtatctgga agcctacacc tcagtcctaa
      241 ctgtagggaa ggaagccttg gaagagtttt atggaagaaa attggttgtt gctgatagag
      301 aagaagtgga acaagaagca gataatattt taaaggatgc tgatatcagt gatgttgcat
      361 tccttgtggt tggtgatcca tttggggcca caacacacag tgatcttgtt ctaagagcaa
      421 caaagctggg aattccttat agagttattc acaatgcctc cataatgaat gctgtaggct
      481 gctgtggttt acagttatat aagtttggag agacagtttc tattgttttt tggacagaca
      541 cttggagacc agaaagcttc tttgacaaag tgaagaagaa cagacaaaat ggcatgcaca
      601 cattatgttt actagacatc aaagtaaagg agcagtcttt ggaaaatcta atcaagggaa
      661 ggaagatcta tgaacctcca cggtatatga gtgtaaacca agcagcccag cagcttctgg
      721 agattgttca aaatcaaaga atacgaggag aagaaccagc agttaccgag gagacacttt
      781 gtgttggctt agccagggtt ggagccgacg accagaaaat tgcagcaggc actttaaggc
      841 aaatgtgcac tgtggacttg ggagaaccat tgcattcctt gatcatcaca ggaggcagca
      901 tacatccaat ggagatggag atgctaagtc tgttttccat accagaaaat agctcagaat
      961 ctcaaagcat caatggactt tgaacataga tatttaccat tgtctgatgt aaatttcagc
     1021 catatatgga ttgatatggt ttggatgtat ccccacccaa gtctcatctt gaattttaat
     1081 cctcataatt cccaggtgtt gtggtaggta attgaatcat gggggcagtt tccctcatgc
     1141 tattctcatg atagtgagct ttcatgagat ctgatggttt tataagtgcc tggcatttcc
     1201 cctactggct ctcattctca ctcttgccgc cctgtgaaga ggtgccttcc accgtgattg
     1261 ttaagtttcc tgaggccttc ccagccatgt ggaactgtga gtcgaaaatt aaacctcttt
     1321 tataattacc cagtctcggg tatttcttca tagcagtgtg agaatggatt aatacctgga
     1381 tgcatgcatg tttgtgtaac aaacaggtct tttggcttat ctagtaagta taaaacaagt
     1441 gaccaaaaag aagttgactc aacaatgctt ggtttcttgt ggcagtgagt tttttcccta
     1501 tgatatcatc agttgttgct gctattttgg caaattttca ggatgtacac ataaagcaga
     1561 ccaggctgga aagcttgtgg atagacatcc actgacagaa tcatttaaga gcagttttta
     1621 tttatgaaac caatttatac aaggtggttg ttaacagaat ataacttaga ggtaactgga
     1681 atttgaatca cttgaatctg ttttaaaggg taaaaaatgt tatgagtgcc aagaaaagca
     1741 aataaaagat tagtaaatgt tcacaaaa
//
