LOCUS       NM_001384               2466 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens diphthamide biosynthesis 2 (DPH2), transcript variant
            1, mRNA.
ACCESSION   NM_001384
VERSION     NM_001384.5
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 2466)
  AUTHORS   Utkur,K., Mayer,K., Khan,M., Manivannan,T., Schaffrath,R. and
            Brinkmann,U.
  TITLE     DPH1 and DPH2 variants that confer susceptibility to diphthamide
            deficiency syndrome in human cells and yeast models
  JOURNAL   Dis Model Mech 16 (9) (2023)
   PUBMED   37675463
  REMARK    GeneRIF: DPH1 and DPH2 variants that confer susceptibility to
            diphthamide deficiency syndrome in human cells and yeast models.
REFERENCE   2  (bases 1 to 2466)
  AUTHORS   Feng,J., Shaik,S. and Wang,B.
  TITLE     Spin-Regulated Electron Transfer and Exchange-Enhanced Reactivity
            in Fe4 S4 -Mediated Redox Reaction of the Dph2 Enzyme During the
            Biosynthesis of Diphthamide
  JOURNAL   Angew Chem Int Ed Engl 60 (37), 20430-20436 (2021)
   PUBMED   34302311
  REMARK    GeneRIF: Spin-Regulated Electron Transfer and Exchange-Enhanced
            Reactivity in Fe4 S4 -Mediated Redox Reaction of the Dph2 Enzyme
            During the Biosynthesis of Diphthamide.
REFERENCE   3  (bases 1 to 2466)
  AUTHORS   Hawer,H., Mendelsohn,B.A., Mayer,K., Kung,A., Malhotra,A.,
            Tuupanen,S., Schleit,J., Brinkmann,U. and Schaffrath,R.
  TITLE     Diphthamide-deficiency syndrome: a novel human developmental
            disorder and ribosomopathy
  JOURNAL   Eur J Hum Genet 28 (11), 1497-1508 (2020)
   PUBMED   32576952
REFERENCE   4  (bases 1 to 2466)
  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   5  (bases 1 to 2466)
  AUTHORS   Zhong,Q., Pevzner,S.J., Hao,T., Wang,Y., Mosca,R., Menche,J.,
            Taipale,M., Tasan,M., Fan,C., Yang,X., Haley,P., Murray,R.R.,
            Mer,F., Gebreab,F., Tam,S., MacWilliams,A., Dricot,A., Reichert,P.,
            Santhanam,B., Ghamsari,L., Calderwood,M.A., Rolland,T.,
            Charloteaux,B., Lindquist,S., Barabasi,A.L., Hill,D.E., Aloy,P.,
            Cusick,M.E., Xia,Y., Roth,F.P. and Vidal,M.
  TITLE     An inter-species protein-protein interaction network across vast
            evolutionary distance
  JOURNAL   Mol Syst Biol 12 (4), 865 (2016)
   PUBMED   27107014
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2466)
  AUTHORS   Zhang,Y., Zhu,X., Torelli,A.T., Lee,M., Dzikovski,B.,
            Koralewski,R.M., Wang,E., Freed,J., Krebs,C., Ealick,S.E. and
            Lin,H.
  TITLE     Diphthamide biosynthesis requires an organic radical generated by
            an iron-sulphur enzyme
  JOURNAL   Nature 465 (7300), 891-896 (2010)
   PUBMED   20559380
  REMARK    Erratum:[Nature. 2011 May 26;473(7348):544]
REFERENCE   7  (bases 1 to 2466)
  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   8  (bases 1 to 2466)
  AUTHORS   Schultz,D.C., Balasara,B.R., Testa,J.R. and Godwin,A.K.
  TITLE     Cloning and localization of a human diphthamide biosynthesis-like
            protein-2 gene, DPH2L2
  JOURNAL   Genomics 52 (2), 186-191 (1998)
   PUBMED   9782084
REFERENCE   9  (bases 1 to 2466)
  AUTHORS   Foley,B.T., Moehring,J.M. and Moehring,T.J.
  TITLE     Mutations in the elongation factor 2 gene which confer resistance
            to diphtheria toxin and Pseudomonas exotoxin A. Genetic and
            biochemical analyses
  JOURNAL   J Biol Chem 270 (39), 23218-23225 (1995)
   PUBMED   7559470
REFERENCE   10 (bases 1 to 2466)
  AUTHORS   Mattheakis,L.C., Sor,F. and Collier,R.J.
  TITLE     Diphthamide synthesis in Saccharomyces cerevisiae: structure of the
            DPH2 gene
  JOURNAL   Gene 132 (1), 149-154 (1993)
   PUBMED   8406038
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL357079.24 and AA252672.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001384.4.
            
            Summary: This gene is one of two human genes similar to the yeast
            gene dph2. The yeast gene was identified by its ability to
            complement a diphthamide mutant strain, and thus probably functions
            in diphthamide biosynthesis. Diphthamide is a post-translationally
            modified histidine residue present in elongation factor 2 (EF2)
            that is the target of diphtheria toxin ADP-ribosylation. Multiple
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            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 :: BC003181.1, SRR3476690.416115.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000255108.8/ ENSP00000255108.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-313               AL357079.24        90071-90383
            314-426             AL357079.24        90657-90769
            427-650             AL357079.24        91027-91250
            651-1334            AL357079.24        91448-92131
            1335-1511           AL357079.24        92219-92395
            1512-2437           AL357079.24        92476-93401
            2438-2466           AA252672.1         19-47               c
FEATURES             Location/Qualifiers
     source          1..2466
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.1"
     gene            1..2466
                     /gene="DPH2"
                     /gene_synonym="DEDSSH2; DPH2L2"
                     /note="diphthamide biosynthesis 2"
                     /db_xref="GeneID:1802"
                     /db_xref="HGNC:HGNC:3004"
                     /db_xref="MIM:603456"
     exon            1..313
                     /gene="DPH2"
                     /gene_synonym="DEDSSH2; DPH2L2"
                     /inference="alignment:Splign:2.1.0"
     CDS             167..1636
                     /gene="DPH2"
                     /gene_synonym="DEDSSH2; DPH2L2"
                     /EC_number="2.5.1.108"
                     /note="isoform a is encoded by transcript variant 1;
                     diphthamide biosynthesis-like protein 2; DPH2-like 2;
                     diphthamide biosynthesis protein 2 homolog-like 2;
                     diptheria toxin resistance protein required for
                     diphthamide biosynthesis-like 2; diphtheria toxin
                     resistance protein 2; S-adenosyl-L-methionine:L-histidine
                     3-amino-3-carboxypropyltransferase 2; DPH2 homolog;
                     2-(3-amino-3-carboxypropyl)histidine synthase subunit 2"
                     /codon_start=1
                     /product="2-(3-amino-3-carboxypropyl)histidine synthase
                     subunit 2 isoform a"
                     /protein_id="NP_001375.2"
                     /db_xref="CCDS:CCDS504.1"
                     /db_xref="GeneID:1802"
                     /db_xref="HGNC:HGNC:3004"
                     /db_xref="MIM:603456"
                     /translation="MESMFSSPAEAALQRETGVPGLLTPLPDLDGVYELERVAGFVRD
                     LGCERVALQFPDQLLGDAVAVAARLEETTGSKMFILGDTAYGSCCVDVLGAEQAGAQA
                     LIHFGPACLSPPARPLPVAFVLRQRSVALELCVKAFEAQNPDPKAPVVLLSEPACAHA
                     LEALATLLRPRYLDLLVSSPAFPQPVGSLSPEPMPLERFGRRFPLAPGRRLEEYGAFY
                     VGGSKASPDPDLDPDLSRLLLGWAPGQPFSSCCPDTGKTQDEGARAGRLRARRRYLVE
                     RARDARVVGLLAGTLGVAQHREALAHLRNLTQAAGKRSYVLALGRPTPAKLANFPEVD
                     VFVLLACPLGALAPQLSGSFFQPILAPCELEAACNPAWPPPGLAPHLTHYADLLPGSP
                     FHVALPPPESELWETPDVSLITGDLRPPPAWKSSNDHGSLALTPRPQLELAESSPAAS
                     FLSSRSWQGLEPRLGQTPVTEAVSGRRGIAIAYEDEGSG"
     exon            314..426
                     /gene="DPH2"
                     /gene_synonym="DEDSSH2; DPH2L2"
                     /inference="alignment:Splign:2.1.0"
     exon            427..650
                     /gene="DPH2"
                     /gene_synonym="DEDSSH2; DPH2L2"
                     /inference="alignment:Splign:2.1.0"
     exon            651..1334
                     /gene="DPH2"
                     /gene_synonym="DEDSSH2; DPH2L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1335..1511
                     /gene="DPH2"
                     /gene_synonym="DEDSSH2; DPH2L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1512..2466
                     /gene="DPH2"
                     /gene_synonym="DEDSSH2; DPH2L2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2447..2452
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DPH2"
                     /gene_synonym="DEDSSH2; DPH2L2"
                     /note="hexamer: AATAAA"
     polyA_site      2466
                     /gene="DPH2"
                     /gene_synonym="DEDSSH2; DPH2L2"
                     /note="major polyA site"
ORIGIN      
        1 agtagttagg atggctgaag gggatactca ccggctgaag gccgactgtg attcccccta
       61 cccccacaag gcgattttga ccccctgagg gctgctctag aggactcagg ccccgaagct
      121 gtcccaggga ggtccccgct gcatcccacc acccaagctg tgcctcatgg agtcgatgtt
      181 tagcagccct gccgaggcgg cgctgcagcg agagaccggg gtgccaggac tgcttactcc
      241 tcttccggac ctggacggag tgtacgagct ggagcgagtc gctggatttg tccgcgacct
      301 ggggtgtgaa cgagttgcct tgcagttccc tgaccagcta ttgggagatg ctgtggctgt
      361 ggctgcacga ctggaggaga cgacagggtc aaagatgttc attctgggtg acacagccta
      421 cggcagctgc tgcgtggatg tgctgggtgc tgagcaagct ggagctcagg ctctcataca
      481 ttttggccct gcctgcttaa gccctccagc ccgcccactg cccgttgcct tcgtgcttcg
      541 tcaacgttct gtggccttgg agctctgtgt caaggccttt gaggcccaga acccagaccc
      601 caaagcgcct gtggtgctgc tgagtgagcc ggcctgtgcc catgccctgg aggctttggc
      661 tactctcctg cgcccacggt acctggacct gctagtctcc agcccagctt ttccccaacc
      721 agtgggttcc ctgagtccag agcctatgcc cctagagcgt tttgggcgcc gcttccccct
      781 tgccccaggg aggcgtctag aagagtatgg tgccttctat gtagggggct ctaaggccag
      841 ccctgaccca gaccttgacc cagacctgag tcggctgctc ttggggtggg caccaggtca
      901 acccttctcc tcctgctgtc cagatacagg gaagactcag gatgagggtg cccgggctgg
      961 acggctaagg gcacgaagac gatatctggt agagagggcc agagatgccc gcgtggtagg
     1021 gctgctggca ggcacactgg gtgtagccca acaccgtgag gcactggccc acttgcggaa
     1081 cctgactcag gctgctggca agcgtagcta tgtgttggcc ctggggcggc ccacccctgc
     1141 caagcttgcc aacttccctg aggtggatgt ctttgtgcta ttagcctgtc ctctgggtgc
     1201 tctagccccc cagctttctg gtagcttctt ccagcctata ctggcaccat gtgagctgga
     1261 agctgcctgc aaccctgcct ggccacctcc aggcctggct ccccacctca cacattatgc
     1321 ggacttattg cctggctctc ccttccacgt ggctctccca ccacctgagt cagagctgtg
     1381 ggaaacccca gacgtgtcac tcattactgg agatctccga cccccacctg cctggaagtc
     1441 atcaaatgat catggaagct tggctctgac cccacggccc cagctggagc tggctgagag
     1501 cagtcctgca gcctcattcc ttagttcccg gagctggcaa gggctggagc cccgcctggg
     1561 tcagacgcca gtgacagaag ctgtgagtgg aagacgaggg attgccatcg cctatgagga
     1621 tgagggaagc ggctgatacc atgtggggct ggagacatag atggacttat gaatggctgc
     1681 taggaccttt agtgctccct gcaccaacct cccatccccc tgccaagatc cttgaaggac
     1741 cctggaagga gggagagcag gcagcccttc acaggatagg atccgtctct gtcctgtcct
     1801 ggcactggca caagctcagc acatgcccag taatgcgtgt tgtttggctg atggaataaa
     1861 gggcttaggg acttccctga ggcctctgga cccatctgtc ttcctgaggg cagcccagga
     1921 cctttggcca atcccagttc ccaggctgca gttgagggtc tgtccttgtc aaaaggcagg
     1981 tgctagacag tctagaccag ggtttctcaa actcgtactt gacatttggg gccagataat
     2041 tctttgttgt ggggctgtct ggtgtatggt agggtgctca gcagcatccc tggcctctgc
     2101 ccactagaca tcagaagcac tcccccagtt gtgacaacca aaaatatctc cagaccttgg
     2161 caaatgttat ctgtggggga aaattgccct caattgagaa ccactggtct agctagacct
     2221 gcactgtcca gtacagtagc cactaaatac atgtggctaa acttaaattt aagttaatta
     2281 agattaaaag ctcagtttct cagtcacatt agtcattcaa gtgttcagac agccacatga
     2341 ggggacagtg cagctacagg atatgccatc atggcagaaa gttctattgg ttggacagcg
     2401 ttggtctata ctgactctta tttctcaggg agatcacagc aacctaaata aaccagatac
     2461 cttttc
//
