LOCUS       NM_138778               2302 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens diphthamide biosynthesis 7 (DPH7), transcript variant
            1, mRNA.
ACCESSION   NM_138778
VERSION     NM_138778.5
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 2302)
  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   2  (bases 1 to 2302)
  AUTHORS   Zhang,F., Baumer,N., Rode,M., Ji,P., Zhang,T., Berdel,W.E. and
            Muller-Tidow,C.
  TITLE     The inhibitor of growth protein 5 (ING5) depends on INCA1 as a
            co-factor for its antiproliferative effects
  JOURNAL   PLoS One 6 (7), e21505 (2011)
   PUBMED   21750715
REFERENCE   3  (bases 1 to 2302)
  AUTHORS   Carette,J.E., Guimaraes,C.P., Varadarajan,M., Park,A.S.,
            Wuethrich,I., Godarova,A., Kotecki,M., Cochran,B.H., Spooner,E.,
            Ploegh,H.L. and Brummelkamp,T.R.
  TITLE     Haploid genetic screens in human cells identify host factors used
            by pathogens
  JOURNAL   Science 326 (5957), 1231-1235 (2009)
   PUBMED   19965467
REFERENCE   4  (bases 1 to 2302)
  AUTHORS   Humphray,S.J., Oliver,K., Hunt,A.R., Plumb,R.W., Loveland,J.E.,
            Howe,K.L., Andrews,T.D., Searle,S., Hunt,S.E., Scott,C.E.,
            Jones,M.C., Ainscough,R., Almeida,J.P., Ambrose,K.D., Ashwell,R.I.,
            Babbage,A.K., Babbage,S., Bagguley,C.L., Bailey,J., Banerjee,R.,
            Barker,D.J., Barlow,K.F., Bates,K., Beasley,H., Beasley,O.,
            Bird,C.P., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.,
            Burrill,W., Burton,J., Carder,C., Carter,N.P., Chapman,J.C.,
            Chen,Y., Clarke,G., Clark,S.Y., Clee,C.M., Clegg,S., Collier,R.E.,
            Corby,N., Crosier,M., Cummings,A.T., Davies,J., Dhami,P., Dunn,M.,
            Dutta,I., Dyer,L.W., Earthrowl,M.E., Faulkner,L., Fleming,C.J.,
            Frankish,A., Frankland,J.A., French,L., Fricker,D.G., Garner,P.,
            Garnett,J., Ghori,J., Gilbert,J.G., Glison,C., Grafham,D.V.,
            Gribble,S., Griffiths,C., Griffiths-Jones,S., Grocock,R., Guy,J.,
            Hall,R.E., Hammond,S., Harley,J.L., Harrison,E.S., Hart,E.A.,
            Heath,P.D., Henderson,C.D., Hopkins,B.L., Howard,P.J., Howden,P.J.,
            Huckle,E., Johnson,C., Johnson,D., Joy,A.A., Kay,M., Keenan,S.,
            Kershaw,J.K., Kimberley,A.M., King,A., Knights,A., Laird,G.K.,
            Langford,C., Lawlor,S., Leongamornlert,D.A., Leversha,M., Lloyd,C.,
            Lloyd,D.M., Lovell,J., Martin,S., Mashreghi-Mohammadi,M.,
            Matthews,L., McLaren,S., McLay,K.E., McMurray,A., Milne,S.,
            Nickerson,T., Nisbett,J., Nordsiek,G., Pearce,A.V., Peck,A.I.,
            Porter,K.M., Pandian,R., Pelan,S., Phillimore,B., Povey,S.,
            Ramsey,Y., Rand,V., Scharfe,M., Sehra,H.K., Shownkeen,R.,
            Sims,S.K., Skuce,C.D., Smith,M., Steward,C.A., Swarbreck,D.,
            Sycamore,N., Tester,J., Thorpe,A., Tracey,A., Tromans,A.,
            Thomas,D.W., Wall,M., Wallis,J.M., West,A.P., Whitehead,S.L.,
            Willey,D.L., Williams,S.A., Wilming,L., Wray,P.W., Young,L.,
            Ashurst,J.L., Coulson,A., Blocker,H., Durbin,R., Sulston,J.E.,
            Hubbard,T., Jackson,M.J., Bentley,D.R., Beck,S., Rogers,J. and
            Dunham,I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK075115.1, BC017335.2,
            AL365502.57 and AA252248.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_138778.4.
            
            Summary: Diphthamide is a post-translationally modified histidine
            residue present in elongation factor 2, and is the target of
            diphtheria toxin. This gene encodes a protein that contains a WD-40
            domain, and is thought to be involved in diphthamide biosynthesis.
            A similar protein in yeast functions as a methylesterase,
            converting methylated diphthine to diphthine, which can then
            undergo amidation to produce diphthamide. [provided by RefSeq, Oct
            2016].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            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 :: SRR1803614.77732.1,
                                           SRR3476690.181613.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000277540.7/ ENSP00000277540.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1615              AK075115.1         12-1626
            1616-1842           BC017335.2         1585-1811
            1843-1941           AL365502.57        109506-109604       c
            1942-2302           AA252248.1         20-380              c
FEATURES             Location/Qualifiers
     source          1..2302
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     gene            1..2302
                     /gene="DPH7"
                     /gene_synonym="C9orf112; RRT2; WDR85"
                     /note="diphthamide biosynthesis 7"
                     /db_xref="GeneID:92715"
                     /db_xref="HGNC:HGNC:25199"
                     /db_xref="MIM:613210"
     exon            1..301
                     /gene="DPH7"
                     /gene_synonym="C9orf112; RRT2; WDR85"
                     /inference="alignment:Splign:2.1.0"
     CDS             149..1507
                     /gene="DPH7"
                     /gene_synonym="C9orf112; RRT2; WDR85"
                     /EC_number="3.1.1.97"
                     /note="isoform a is encoded by transcript variant 1; WD
                     repeat-containing protein 85; diphthine methyltransferase"
                     /codon_start=1
                     /product="diphthine methyltransferase isoform a"
                     /protein_id="NP_620133.1"
                     /db_xref="CCDS:CCDS7047.1"
                     /db_xref="GeneID:92715"
                     /db_xref="HGNC:HGNC:25199"
                     /db_xref="MIM:613210"
                     /translation="MMGCFALQTVDTELTADSVEWCPLQGCRHLLACGTYQLRRPEDR
                     PAGPQNKGGMEVKEPQVRLGRLFLYSFNDNNSIHPLVEVQRKDTSAILDMKWCHIPVA
                     GHALLGLADASGSIQLLRLVESEKSHVLEPLSSLALEEQCLALSLDWSTGKTGRAGDQ
                     PLKIISSDSTGQLHLLMVNETRPRLQKVASWQAHQFEAWIAAFNYWHPEIVYSGGDDG
                     LLRGWDTRVPGKFLFTSKRHTMGVCSIQSSPHREHILATGSYDEHILLWDTRNMKQPL
                     ADTPVQGGVWRIKWHPFHHHLLLAACMHSGFKILNCQKAMEERQEATVLTSHTLPDSL
                     VYGADWSWLLFRSLQRAPSWSFPSNLGTKTADLKGASELPTPCHECREDNDGEGHARP
                     QSGMKPLTEGMRKNGTWLQATAATTRDCGVNPEEADSAFSLLATCSFYDHALHLWEWE
                     GN"
     exon            302..435
                     /gene="DPH7"
                     /gene_synonym="C9orf112; RRT2; WDR85"
                     /inference="alignment:Splign:2.1.0"
     exon            436..523
                     /gene="DPH7"
                     /gene_synonym="C9orf112; RRT2; WDR85"
                     /inference="alignment:Splign:2.1.0"
     exon            524..615
                     /gene="DPH7"
                     /gene_synonym="C9orf112; RRT2; WDR85"
                     /inference="alignment:Splign:2.1.0"
     exon            616..788
                     /gene="DPH7"
                     /gene_synonym="C9orf112; RRT2; WDR85"
                     /inference="alignment:Splign:2.1.0"
     exon            789..858
                     /gene="DPH7"
                     /gene_synonym="C9orf112; RRT2; WDR85"
                     /inference="alignment:Splign:2.1.0"
     exon            859..924
                     /gene="DPH7"
                     /gene_synonym="C9orf112; RRT2; WDR85"
                     /inference="alignment:Splign:2.1.0"
     exon            925..1097
                     /gene="DPH7"
                     /gene_synonym="C9orf112; RRT2; WDR85"
                     /inference="alignment:Splign:2.1.0"
     exon            1098..2302
                     /gene="DPH7"
                     /gene_synonym="C9orf112; RRT2; WDR85"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1824..1829
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DPH7"
                     /gene_synonym="C9orf112; RRT2; WDR85"
                     /note="hexamer: AATGAA"
     polyA_site      1842
                     /gene="DPH7"
                     /gene_synonym="C9orf112; RRT2; WDR85"
                     /note="major polyA site"
     polyA_site      1870
                     /gene="DPH7"
                     /gene_synonym="C9orf112; RRT2; WDR85"
     regulatory      1997..2002
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DPH7"
                     /gene_synonym="C9orf112; RRT2; WDR85"
                     /note="hexamer: ATTAAA"
     polyA_site      2019
                     /gene="DPH7"
                     /gene_synonym="C9orf112; RRT2; WDR85"
     regulatory      2279..2284
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DPH7"
                     /gene_synonym="C9orf112; RRT2; WDR85"
                     /note="hexamer: AATAAA"
     polyA_site      2302
                     /gene="DPH7"
                     /gene_synonym="C9orf112; RRT2; WDR85"
ORIGIN      
        1 agtcgcgaga gaggcggccc gcgctgacgg tgtccctggg gctctgcgct cgtccggccg
       61 gccccggcct cgccgccccg cgcagtaccc agcccggccc cgccgacccg cctctactgc
      121 cggctccgcg cccttccccg agggctggat gatgggctgt ttcgccctgc aaacggtgga
      181 caccgagctg accgcggact cggtggagtg gtgcccgctg caaggctgca ggcacctgct
      241 ggcgtgcggg acctaccagc tgcggcggcc ggaggaccgg cctgccggcc cccagaacaa
      301 gggtggaatg gaagttaagg agcctcaggt ccgtttaggc cgtctcttcc tgtacagttt
      361 caatgacaac aactctattc accctctggt cgaggtccaa agaaaagata cttctgcaat
      421 cctggacatg aaatggtgtc acatcccggt ggctggacat gccctcttgg gcttggcaga
      481 tgccagtgga tccatacaac tgctccgcct ggtggaatct gagaagagcc acgtgctgga
      541 gccattgtcc agccttgccc tggaggagca gtgtctggct ttgtccctag attggtccac
      601 tgggaaaact ggaagggccg gggaccagcc cttgaagatc atcagcagtg actccacagg
      661 gcagctccac ctcctgatgg tgaatgagac gaggcccagg ctgcagaaag tggcctcatg
      721 gcaggcacat caattcgagg cctggattgc tgctttcaat tactggcatc cagaaattgt
      781 gtattcaggg ggcgacgatg gccttctgag gggctgggac accagggtac ccggcaaatt
      841 tctcttcacc agcaaaagac acaccatggg tgtgtgcagc atccagagca gccctcatcg
      901 ggagcacatc ctggccacgg gaagctatga tgaacacatc ctactgtggg acacacgaaa
      961 catgaagcag ccgttggcag atacgcctgt gcagggtggg gtatggagaa tcaagtggca
     1021 ccctttccac caccacctgc tcctggccgc ctgcatgcac agtggcttta agatcctcaa
     1081 ctgccaaaag gcaatggagg agaggcagga ggcgacggtc ctgacatctc acacattgcc
     1141 cgactcgctg gtgtatggag ccgactggtc ctggctgctc ttccgttctc tgcagcgggc
     1201 cccctcgtgg tcctttccta gcaacctagg aaccaagacg gcagacctga agggtgcaag
     1261 cgagttgcca acaccctgtc atgaatgcag agaggataac gatggggagg gccatgccag
     1321 accccagagt ggaatgaagc cactcacaga gggcatgagg aagaatggca cctggctgca
     1381 ggctacagca gccaccacac gtgactgtgg cgtgaaccca gaagaagcag actcagcctt
     1441 cagcctcctg gccacctgct ccttctatga ccatgcgctc cacctctggg agtgggaggg
     1501 gaactgagct tgaaatcatg aagccccttc ccacaaggaa accaggaggg agactgcgag
     1561 tgagtgcccg ggaccacctc atcagagatg cttactgcag ccctgcaggt gcctgtgcac
     1621 tgatggaatc cacagtgtag tcagaaaagc tgttgacttc tcttaaatca gcttccctgc
     1681 tgggcccctg aaagtggact gggtgattct gtctggcaga gagtggggaa aagacgcggt
     1741 ttccagcttg cagatttgtt aagtttctca ggcagatttt gactttcagc ctttcatact
     1801 tgtttaagca actatttgta ttaaatgaag ttttttgaaa aacacgagtt tataacatgt
     1861 ttaaaatgaa cattttatgc ctcatcatgg caccagaaat gcttgtatag attgagcaca
     1921 gccagtccaa aaatccaaaa tcccaaaact tttggaaaat cccgcagctg aactcatgtg
     1981 acgggttgca tatattatta aaactactga gcacagtcac agtggcctgt aatcccagca
     2041 ctttggaagg ggctgaggca ggaggattgc ttgaggcctg gagttcaaga ccagcctggg
     2101 caacatagca aaacccagtc tctataaaaa gtaaaacaaa aattagccag gtgtggtgca
     2161 tgtgcctatg gtcccagcca cttgggaggc tgaggcagga ggattgttga gcccaggagg
     2221 tcgaggctgc aatgagccag gggcaacaga gcaagactct tatctctaaa aattaaataa
     2281 taaaaaattg tataaacaat aa
//
