LOCUS       NM_206831               4019 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens diphthamide biosynthesis 3 (DPH3), transcript variant
            1, mRNA.
ACCESSION   NM_206831 XM_376210
VERSION     NM_206831.3
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 4019)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 4019)
  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   3  (bases 1 to 4019)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (bases 1 to 4019)
  AUTHORS   Denisova,E., Heidenreich,B., Nagore,E., Rachakonda,P.S., Hosen,I.,
            Akrap,I., Traves,V., Garcia-Casado,Z., Lopez-Guerrero,J.A.,
            Requena,C., Sanmartin,O., Serra-Guillen,C., Llombart,B.,
            Guillen,C., Ferrando,J., Gimeno,E., Nordheim,A., Hemminki,K. and
            Kumar,R.
  TITLE     Frequent DPH3 promoter mutations in skin cancers
  JOURNAL   Oncotarget 6 (34), 35922-35930 (2015)
   PUBMED   26416425
  REMARK    GeneRIF: The results from this study show occurrence of frequent
            somatic non-coding mutations adjacent to a pre-existing binding
            site for Ets transcription factors within the directional promoter
            of DPH3 and OXNAD1 genes in three major skin cancers.
REFERENCE   5  (bases 1 to 4019)
  AUTHORS   Wu,F., Zhang,J., Sun,J., Huang,H., Ji,P., Chu,W., Yu,M., Yang,F.,
            Wu,Z., Wu,J. and Shi,Y.
  TITLE     Solution structure of human DESR1, a CSL zinc-binding protein
  JOURNAL   Proteins 71 (1), 514-518 (2008)
   PUBMED   18214955
  REMARK    GeneRIF: Solution structure of human DESR1, a CSL zinc-binding
            protein.
REFERENCE   6  (bases 1 to 4019)
  AUTHORS   Liu,S., Wiggins,J.F., Sreenath,T., Kulkarni,A.B., Ward,J.M. and
            Leppla,S.H.
  TITLE     Dph3, a small protein required for diphthamide biosynthesis, is
            essential in mouse development
  JOURNAL   Mol Cell Biol 26 (10), 3835-3841 (2006)
   PUBMED   16648478
REFERENCE   7  (bases 1 to 4019)
  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 4019)
  AUTHORS   Sjolinder,M., Uhlmann,J. and Ponstingl,H.
  TITLE     Characterisation of an evolutionary conserved protein interacting
            with the putative guanine nucleotide exchange factor DelGEF and
            modulating secretion
  JOURNAL   Exp Cell Res 294 (1), 68-76 (2004)
   PUBMED   14980502
  REMARK    GeneRIF: DelGIP1is a binding partner of deafness locus putative
            guanine nucleotide exchange factor; downregulation of DelGIP1
            induced increased extracellular secretion of proteoglycans
            indicating a possible role for DelGIP1 in the secretion process
REFERENCE   9  (bases 1 to 4019)
  AUTHORS   Liu,S. and Leppla,S.H.
  TITLE     Retroviral insertional mutagenesis identifies a small protein
            required for synthesis of diphthamide, the target of bacterial
            ADP-ribosylating toxins
  JOURNAL   Mol Cell 12 (3), 603-613 (2003)
   PUBMED   14527407
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA875039.1 and AC090953.2.
            
            On Nov 22, 2018 this sequence version replaced NM_206831.2.
            
            Summary: This gene encodes a CSL zinc finger-containing protein
            that is required for dipthamide biosynthesis. The encoded protein
            is necessary for the initial step in the modification of a
            histidine residue in elongation factor-2 to diphthamide. This
            modified residue is a target for ADP ribosylation by the bacterial
            toxins diphtheria toxin and Pseudomonas exotoxin A. Alternative
            splicing results in multiple transcript variants that encode the
            same isoform. [provided by RefSeq, Feb 2009].
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.235986.1,
                                           SRR1803613.12890.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000488423.2/ ENSP00000419599.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-529               DA875039.1         47-575
            530-4019            AC090953.2         133100-136589       c
FEATURES             Location/Qualifiers
     source          1..4019
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.1"
     gene            1..4019
                     /gene="DPH3"
                     /gene_synonym="DELGIP; DELGIP1; DESR1; DPH3A; KTI11;
                     ZCSL2"
                     /note="diphthamide biosynthesis 3"
                     /db_xref="GeneID:285381"
                     /db_xref="HGNC:HGNC:27717"
                     /db_xref="MIM:608959"
     exon            1..175
                     /gene="DPH3"
                     /gene_synonym="DELGIP; DELGIP1; DESR1; DPH3A; KTI11;
                     ZCSL2"
                     /inference="alignment:Splign:2.1.0"
     CDS             68..316
                     /gene="DPH3"
                     /gene_synonym="DELGIP; DELGIP1; DESR1; DPH3A; KTI11;
                     ZCSL2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     deafness locus putative guanine nucleotide exchange factor
                     interacting protein 1; zinc finger, CSL domain containing
                     2; DPH3 homolog (KTI11, S. cerevisiae); zinc finger,
                     CSL-type containing 2; DPH3A, KTI11 homolog A; Del-GEF
                     interacting protein; DPH3, KTI11 homolog; diphtheria toxin
                     and Pseudomonas exotoxin A sensitivity required gene 1;
                     delGEF-interacting protein 1; CSL-type zinc
                     finger-containing protein 2; diphthamide biosynthesis
                     protein 3"
                     /codon_start=1
                     /product="diphthamide biosynthesis protein 3 isoform 1"
                     /protein_id="NP_996662.1"
                     /db_xref="CCDS:CCDS2629.1"
                     /db_xref="GeneID:285381"
                     /db_xref="HGNC:HGNC:27717"
                     /db_xref="MIM:608959"
                     /translation="MAVFHDEVEIEDFQYDEDSETYFYPCPCGDNFSITKEDLENGED
                     VATCPSCSLIIKVIYDKDQFVCGETVPAPSANKELVKC"
     exon            176..250
                     /gene="DPH3"
                     /gene_synonym="DELGIP; DELGIP1; DESR1; DPH3A; KTI11;
                     ZCSL2"
                     /inference="alignment:Splign:2.1.0"
     exon            251..4019
                     /gene="DPH3"
                     /gene_synonym="DELGIP; DELGIP1; DESR1; DPH3A; KTI11;
                     ZCSL2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      674..679
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DPH3"
                     /gene_synonym="DELGIP; DELGIP1; DESR1; DPH3A; KTI11;
                     ZCSL2"
                     /note="hexamer: AATAAA"
     polyA_site      698
                     /gene="DPH3"
                     /gene_synonym="DELGIP; DELGIP1; DESR1; DPH3A; KTI11;
                     ZCSL2"
                     /note="major polyA site"
     regulatory      3078..3083
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DPH3"
                     /gene_synonym="DELGIP; DELGIP1; DESR1; DPH3A; KTI11;
                     ZCSL2"
                     /note="hexamer: AATAAA"
     polyA_site      3102
                     /gene="DPH3"
                     /gene_synonym="DELGIP; DELGIP1; DESR1; DPH3A; KTI11;
                     ZCSL2"
                     /note="major polyA site"
     regulatory      3996..4001
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DPH3"
                     /gene_synonym="DELGIP; DELGIP1; DESR1; DPH3A; KTI11;
                     ZCSL2"
                     /note="hexamer: AATAAA"
     polyA_site      4019
                     /gene="DPH3"
                     /gene_synonym="DELGIP; DELGIP1; DESR1; DPH3A; KTI11;
                     ZCSL2"
ORIGIN      
        1 gaagttaaac cctcggagct ggcctcggac tgctggggcg ttaccccttc ggccaccccc
       61 gctgaccatg gcagtgtttc atgacgaggt ggaaatcgag gacttccaat atgacgagga
      121 ctcggagacg tatttctatc cctgcccatg tggagataac ttctccatca ccaaggaaga
      181 tttggagaat ggggaagacg tggcaacgtg tcctagctgc tctctcatta taaaagtgat
      241 ttatgacaaa gatcagtttg tgtgtggaga aacagtccca gccccttcag ccaacaaaga
      301 attagttaaa tgctgaagaa gccttcagga atccaaatcc tgaacatttg gaatgagccc
      361 agatagaaat atcgaatgca aagctactgg cttcacagag acaaccattt atgatttgct
      421 gttctgtaag agtgtggatt ctttctatca actgctgata tcatcttcag gaagcaagtc
      481 cataacatga catatctgga ttttgtgctt agaaccttaa attggaagca ttcttaatta
      541 tgcatctaaa tttaaaagaa gataatttca aaacagtgct ttctttccct tggtttcatc
      601 attttcatat cttaaaccaa attacttcgg tatctgacaa cagcatcatc tacctcagtc
      661 attaggattt cttaataaaa aagagattgt atttttgact tggttattaa gattattaaa
      721 attagccctt cctttgaaat atgacatcag ctttgctgtt ctaaatttaa aattagttgc
      781 ttcatcagta ccacacttcc agtttctata ccaagccagt ctcctcagtt ttcccattag
      841 aatggacatg ttctgttcag cgtgtcattt ctgtaatgct tcatgcagag agtttggtca
      901 tagtattaaa gagaaaatac agtgaggtca caatgtctcc agagctaaaa gttagtgaac
      961 aagaaagaaa gtccaaaatg aagtgatgaa agaatgagga cttttcttat attctgcata
     1021 ttccttggaa gtcaggacaa gatgaaaaga aaaacatcca aaagaagtga aattggtgac
     1081 agaatgagag gagcaaagca taccagtgta gtaagtggaa tgtttgaatg actttgccag
     1141 gtcagagcaa gtaatatttc tgtatctgag tttttgtttg tgttttgata aggctaatga
     1201 aattgcattc caggtagggg ttaacgtcaa atttccatgg ctggtagctg tgcttttggc
     1261 atatcacagt gttgtgtcac tactacaagg taaagcatct acagcggaga atgagcttga
     1321 aaatgagaga cctattgtga ataaatatgc ccatgagagc atatttaata agcctctata
     1381 acatgcagcc aaaccagaca ttcactcctg cagagaaatg ttgccctgga gaaaaagaaa
     1441 tatataaaga taggctatca cccttctttt gctgcagtac taagcatagc aagaaattag
     1501 aatcatttac attggaaatt tgaaaattcc ctttatatac acaactttac tgtgtataaa
     1561 taaaaaatat ttattaatgc agtgatgtcc gtcaggttgt tttaggaatg gcttctgcaa
     1621 ttagaaaaat agcttgctag aatgtaaatg ttctgttact ggtaaatgta ctgcacacat
     1681 tcattggacg ttaaaacaag tgagtagcct tttttacctg ccagcagcat ggctgtgtgc
     1741 agccactagg ctgagacaat aaattaccaa aaattataat gtaccgagct gaaaatgctc
     1801 agtacattat gtggcatatt ctggatgtga tgagaaatct cattgccatt tgggacactg
     1861 acatcccaga agtaatccac aactgctttg caaaagcaaa gtgactgctc agatgaacag
     1921 agcagagtac tcactcacta tggtggcatc agctgcaaag caaaatgaac tgtcccatga
     1981 tcatgttgat ggttttctag atactgccaa catgttagct ctttctgatg ctgatgagtt
     2041 tcaaacacga acagacaccc ttgatgtggg tttgctaaga acatagaaga acaggaagaa
     2101 aagttgccag gttcacacat cccaggaaaa aagaagcata aaaagcatta gcagtcagtg
     2161 actgatgata atgctgcaat aatgggaatg gttttgtttc taaaccaaat tatttctaaa
     2221 tcaaatcatt tattgctttg tttctaaagc aattgagtca ctaagtttgt gaactgtagg
     2281 agaacacatc aagattgaat cctgtgttaa gcagaaggta aaaccagagc caggcgcagt
     2341 ggctcgtgcc tgtaatccca gctactcagg aagctaaggc aggaggatca tgtgaggcca
     2401 ggagttcaag actagcctgg gcaacataga aagaccctgt ctctaaaaaa tcttctttta
     2461 attagcaagg tgtggggcct tgagcaaatt gcttgggccc aggagtttga ggctgtggtg
     2521 agctgtgatc acaccactgc gttccagcct gtgtgacagg gcaagacctc atgcctaaaa
     2581 aataaagaga aagcagagta aaactggact ctgagatacg actaaagttc tgtgtgatac
     2641 gtgtgcctta tttagctcaa gacattcctg gagcacctat aaaaactgac ttgtaatcca
     2701 ggctatgtct ctttttagct tcgtaatctt tggcaaggcc attggattct tcagctgtac
     2761 aattaggaga ctcgatcagg tgattgcctt tctcagctgt cagttctcta atttcaggct
     2821 tggtagcttg taggaactga aattgcaatt aaaaccttta taaactcaaa ctaaatcatg
     2881 aattacagaa aaagtccatt cttccaaaac ttgatgttac cacacttaca agtttaaaat
     2941 atgaagtcga ctgtttaaag gattctgcat atattctagt gtgcacattc agaaacattt
     3001 ttcttggaaa aagtacccaa cattttttat aactgcacat attaatttat tgccagaata
     3061 aattgcattg catgctaaat aaagtcagat aattcaaatc catttgcttt tatgtagttt
     3121 ttcttctaaa tgtcaacatt ttgaattaaa atgtttatga ttttatatga ggtagaaatc
     3181 ttaactgctt tggggtattg ttaatagact ttttgttatg gacagtagtt tttaaataag
     3241 gaaattgcca atttctacag tttgggctct ggatttctat tgtttgggaa aaaaataact
     3301 gagtcaagtg gtagtaagac aaagttgaca ttcttagatg agtaactcag tttattacaa
     3361 ggaaagaaaa ctgattgttt aaggctgatg atcaattctt ggagtggttt cagagcccag
     3421 ctctggtcag aagacaattt gaatcttagt tcctccactg tgatctccga gaagttactt
     3481 aataattata ttctggtttg tgaaatctgg atcatagtac ctctttgaca gggttgctgt
     3541 gtgaacccat tcattctgca attagaaaaa tagctgtcat gtgctatgca ctaggcaaag
     3601 aagtacctgt cacatgctag gcactagggg aagaagattc ggtttctaca tttggaaact
     3661 tagtggaact agaagagaca gaagcaagat tacagatgag ttagagcccc caaggaaaca
     3721 aaccaggtga tgtgggagag agtaactggg tcaggtgact ttttaaggga gtctgagctc
     3781 tggcactttt tctaagacct gaaggatgag aaggaaacag ccttgtgaaa atgattaaat
     3841 gagctagtat ctataaaaca tgacagctaa tgcctgtcat gtgcaaaaaa tggttaacta
     3901 ttctaactcc gaaaggaatt aaacattgtt ttgcgctttc tcctagtcca tgttctgctg
     3961 ctgtaacaat acctgagact ggataattta tcaagaataa aggttaattt ggctcatga
//
