LOCUS       NM_080650               2098 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens diphthamine biosynthesis 6 (DPH6), transcript variant
            1, mRNA.
ACCESSION   NM_080650 XM_370854
VERSION     NM_080650.4
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 2098)
  AUTHORS   Hasson,S.A., Kane,L.A., Yamano,K., Huang,C.H., Sliter,D.A.,
            Buehler,E., Wang,C., Heman-Ackah,S.M., Hessa,T., Guha,R.,
            Martin,S.E. and Youle,R.J.
  TITLE     High-content genome-wide RNAi screens identify regulators of parkin
            upstream of mitophagy
  JOURNAL   Nature 504 (7479), 291-295 (2013)
   PUBMED   24270810
REFERENCE   2  (bases 1 to 2098)
  AUTHORS   Uthman,S., Bar,C., Scheidt,V., Liu,S., ten Have,S., Giorgini,F.,
            Stark,M.J. and Schaffrath,R.
  TITLE     The amidation step of diphthamide biosynthesis in yeast requires
            DPH6, a gene identified through mining the DPH1-DPH5 interaction
            network
  JOURNAL   PLoS Genet 9 (2), e1003334 (2013)
   PUBMED   23468660
REFERENCE   3  (bases 1 to 2098)
  AUTHORS   Su,X., Lin,Z., Chen,W., Jiang,H., Zhang,S. and Lin,H.
  TITLE     Chemogenomic approach identified yeast YLR143W as diphthamide
            synthetase
  JOURNAL   Proc Natl Acad Sci U S A 109 (49), 19983-19987 (2012)
   PUBMED   23169644
  REMARK    GeneRIF: The previously uncharacterized human gene ATPBD4 is the
            ortholog of yeast YLR143W, a diphthamide synthetase, and fully
            rescues the deletion of YLR143W in yeast.
REFERENCE   4  (bases 1 to 2098)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   5  (bases 1 to 2098)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB250468.1, AK094007.1, BC008485.2 and AC019288.8.
            
            On Nov 24, 2018 this sequence version replaced NM_080650.3.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.52863.1,
                                           SRR3476690.832475.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000256538.9/ ENSP00000256538.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 DB250468.1         39-40
            3-1056              AK094007.1         1-1054
            1057-2009           BC008485.2         1011-1963
            2010-2098           AC019288.8         10977-11065         c
FEATURES             Location/Qualifiers
     source          1..2098
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q14"
     gene            1..2098
                     /gene="DPH6"
                     /gene_synonym="ATPBD4"
                     /note="diphthamine biosynthesis 6"
                     /db_xref="GeneID:89978"
                     /db_xref="HGNC:HGNC:30543"
                     /db_xref="MIM:618391"
     exon            1..47
                     /gene="DPH6"
                     /gene_synonym="ATPBD4"
                     /inference="alignment:Splign:2.1.0"
     CDS             25..828
                     /gene="DPH6"
                     /gene_synonym="ATPBD4"
                     /EC_number="6.3.1.14"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ATP-binding domain-containing protein 4; diphthamide
                     synthase; diphthamide synthetase; diphthine--ammonia
                     ligase; ATP binding domain 4; DPH6 homolog; protein DPH6
                     homolog"
                     /codon_start=1
                     /product="diphthine--ammonia ligase isoform 1"
                     /protein_id="NP_542381.1"
                     /db_xref="CCDS:CCDS10043.1"
                     /db_xref="GeneID:89978"
                     /db_xref="HGNC:HGNC:30543"
                     /db_xref="MIM:618391"
                     /translation="MRVAALISGGKDSCYNMMQCIAAGHQIVALANLRPAENQVGSDE
                     LDSYMYQTVGHHAIDLYAEAMALPLYRRTIRGRSLDTRQVYTKCEGDEVEDLYELLKL
                     VKEKEEVEGISVGAILSDYQRIRVENVCKRLNLQPLAYLWQRNQEDLLREMISSNIQA
                     MIIKVAALGLDPDKHLGKTLDQMEPYLIELSKKYGVHVCGEGGEYETFTLDCPLFKKK
                     IIVDSSEVVIHSADAFAPVAYLRFLELHLEDKVSSVPDNYRTSNYIYNF"
     exon            48..142
                     /gene="DPH6"
                     /gene_synonym="ATPBD4"
                     /inference="alignment:Splign:2.1.0"
     exon            143..336
                     /gene="DPH6"
                     /gene_synonym="ATPBD4"
                     /inference="alignment:Splign:2.1.0"
     exon            337..410
                     /gene="DPH6"
                     /gene_synonym="ATPBD4"
                     /inference="alignment:Splign:2.1.0"
     exon            411..529
                     /gene="DPH6"
                     /gene_synonym="ATPBD4"
                     /inference="alignment:Splign:2.1.0"
     exon            530..591
                     /gene="DPH6"
                     /gene_synonym="ATPBD4"
                     /inference="alignment:Splign:2.1.0"
     exon            592..686
                     /gene="DPH6"
                     /gene_synonym="ATPBD4"
                     /inference="alignment:Splign:2.1.0"
     exon            687..774
                     /gene="DPH6"
                     /gene_synonym="ATPBD4"
                     /inference="alignment:Splign:2.1.0"
     exon            775..2098
                     /gene="DPH6"
                     /gene_synonym="ATPBD4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      851..856
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DPH6"
                     /gene_synonym="ATPBD4"
                     /note="hexamer: ATTAAA"
     polyA_site      878
                     /gene="DPH6"
                     /gene_synonym="ATPBD4"
                     /note="major polyA site"
     regulatory      2072..2077
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DPH6"
                     /gene_synonym="ATPBD4"
                     /note="hexamer: AATAAA"
     polyA_site      2098
                     /gene="DPH6"
                     /gene_synonym="ATPBD4"
ORIGIN      
        1 gcacgcacgc gcactgcgcc cagcatgagg gtcgcggctc tgatcagtgg tgggaaggac
       61 agctgctata atatgatgca gtgcattgct gctgggcatc agatcgttgc tttagcaaat
      121 ctaagaccag ctgaaaacca agtggggtct gatgaactgg atagctacat gtatcagaca
      181 gtggggcacc atgccattga cttgtatgca gaagcaatgg ctcttcccct ctatcgccga
      241 accataagag gaaggagctt ggatacaaga caagtgtaca ccaaatgtga aggtgatgag
      301 gttgaagatc tctatgagct tttgaaactt gttaaggaaa aagaagaagt agaggggata
      361 tcagtaggtg ctatactttc tgactatcag cgtattcgag tggaaaatgt gtgtaaaagg
      421 cttaatctcc agcctttagc ttatctttgg cagagaaacc aggaagattt gctcagagag
      481 atgatatcat ctaacattca agcaatgatc atcaaagtag cagctttggg tttagatcct
      541 gataagcatc ttgggaaaac cctggatcaa atggagcctt atctcataga gctttctaag
      601 aagtatggag tacatgtttg tggagaaggt ggagagtatg aaactttcac tttggattgc
      661 cctctattta agaagaaaat aattgtggat tcatcagaag tagtcataca ttcagctgat
      721 gcatttgcac ctgtggctta tctacgcttt ttagaattgc acttggagga caaggtgtcc
      781 tcagtgcctg acaactacag aacatctaat tatatatata atttttgaaa agtgttttgg
      841 aacattgttc attaaaccac catttctata caaaaaaatt gcatagtatt ttctcagtta
      901 ctatgactag tttatttttt tctcatgact cttatttttt tagagaaaca tactttcact
      961 agaagaggtt agtggaacca tttattaatt gggaaaatgt cgacggcatg ttcattaata
     1021 gtgccaactt tcttggaatt cactctttct ctttcgttaa cacatcttcc ctatgacctt
     1081 ttttttcttt tatttcatct ataaacccca tttctgtagc atttcttttt ttatcacact
     1141 agtttctttt cctccttctc tctttcttgc tccaatccct accaataatg tcatgatgca
     1201 gaggcatttg aaaatgaaga tgaaaagatg gtcactttat ttagccagtc aagcttattc
     1261 tactgggtgt cgccaaagcg atttatcatt tttattttaa atatattcat ggttgaagtg
     1321 tttcaacgtt attggacaat taggaagaat gtccttaact cttacaagtt attttataac
     1381 tgatttttaa aatgctgttt ttcagtatta actatgttga ccttagaaaa cttttacaaa
     1441 aaatagactt tatgttttag aacagtttta ggttcacagc aaaaatggag cagaaaatgc
     1501 agagatttcc catataccct ctacctccac acattcacag cctcccctac cgtcaatgtc
     1561 ttataataga gtggtacatt tgttacaact gatgaaccta cattgacaca ttattatcac
     1621 ccaaagtcca tagtttacgt gagggttcac tcttggtgtt gtacataata tgggttttga
     1681 caaatgtgta atgacatttg tcaaccgtta tagtattata cagaataatt tcactgcctt
     1741 aaaaaatcct ctgtgtttta cttattcatc cctccctctc ctttaaccct tagcaactga
     1801 tcttttcact gtgtacatag ttttgctttt accagaatgt aatgtagttg aaatcataca
     1861 gtatatagct tttcatgcag tatatagctt ttcagattgg cttctttcat gtattaatat
     1921 gcatttaggt ttctctgtat cttgtcatgt atatgtagct catttttttt ttagtgtaga
     1981 ataaaatttt attgtctggt tctaccacat ttcatttgtc catgcaccta ttgaagaaca
     2041 tctcagttgc ttccatgttt tggcgattat gaataaagcg actataaaca tccatgaa
//
