LOCUS       NM_001383               2646 bp    mRNA    linear   PRI 08-FEB-2025
DEFINITION  Homo sapiens diphthamide biosynthesis 1 (DPH1), transcript variant
            1, mRNA.
ACCESSION   NM_001383
VERSION     NM_001383.6
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 2646)
  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 2646)
  AUTHORS   Yu,L., Li,Y., Wang,H., Wang,D., Hao,H., Zhang,D., Liang,X., Cai,M.,
            Guan,R., Bai,J. and Yu,J.
  TITLE     The functional variant in promoter of OVCA1 was associated with the
            risk of gastric cancer in the northeast Chinese Han population
  JOURNAL   Pathol Res Pract 230, 153755 (2022)
   PUBMED   34990869
  REMARK    GeneRIF: The functional variant in promoter of OVCA1 was associated
            with the risk of gastric cancer in the northeast Chinese Han
            population.
REFERENCE   3  (bases 1 to 2646)
  AUTHORS   Cheng,S.S.W., Luk,H.M. and Lo,I.F.M.
  TITLE     An adult Chinese patient with developmental delay with short
            stature, dysmorphic features, and sparse hair (Loucks-Innes
            syndrome)
  JOURNAL   Am J Med Genet A 185 (6), 1925-1931 (2021)
   PUBMED   33704902
  REMARK    GeneRIF: An adult Chinese patient with developmental delay with
            short stature, dysmorphic features, and sparse hair (Loucks-Innes
            syndrome).
REFERENCE   4  (bases 1 to 2646)
  AUTHORS   Liu,J., Zuo,Z., Zou,M., Finkel,T. and Liu,S.
  TITLE     Identification of the transcription factor Miz1 as an essential
            regulator of diphthamide biosynthesis using a CRISPR-mediated
            genome-wide screen
  JOURNAL   PLoS Genet 16 (10), e1009068 (2020)
   PUBMED   33057331
  REMARK    GeneRIF: Identification of the transcription factor Miz1 as an
            essential regulator of diphthamide biosynthesis using a
            CRISPR-mediated genome-wide screen.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2646)
  AUTHORS   Urreizti,R., Mayer,K., Evrony,G.D., Said,E., Castilla-Vallmanya,L.,
            Cody,N.A.L., Plasencia,G., Gelb,B.D., Grinberg,D., Brinkmann,U.,
            Webb,B.D. and Balcells,S.
  TITLE     DPH1 syndrome: two novel variants and structural and functional
            analyses of seven missense variants identified in syndromic
            patients
  JOURNAL   Eur J Hum Genet 28 (1), 64-75 (2020)
   PUBMED   30877278
  REMARK    GeneRIF: DPH1 syndrome: two novel variants and structural and
            functional analyses of seven missense variants identified in
            syndromic patients.
            Erratum:[Eur J Hum Genet. 2020 Jan;28(1):138. doi:
            10.1038/s41431-019-0394-5.. PMID: 31477843]
REFERENCE   6  (bases 1 to 2646)
  AUTHORS   Chen,C.M. and Behringer,R.R.
  TITLE     Cloning, structure, and expression of the mouse Ovca1 gene
  JOURNAL   Biochem Biophys Res Commun 286 (5), 1019-1026 (2001)
   PUBMED   11527402
REFERENCE   7  (bases 1 to 2646)
  AUTHORS   Salicioni,A.M., Xi,M., Vanderveer,L.A., Balsara,B., Testa,J.R.,
            Dunbrack,R.L. Jr. and Godwin,A.K.
  TITLE     Identification and structural analysis of human RBM8A and RBM8B:
            two highly conserved RNA-binding motif proteins that interact with
            OVCA1, a candidate tumor suppressor
  JOURNAL   Genomics 69 (1), 54-62 (2000)
   PUBMED   11013075
REFERENCE   8  (bases 1 to 2646)
  AUTHORS   Bruening,W., Prowse,A.H., Schultz,D.C., Holgado-Madruga,M., Wong,A.
            and Godwin,A.K.
  TITLE     Expression of OVCA1, a candidate tumor suppressor, is reduced in
            tumors and inhibits growth of ovarian cancer cells
  JOURNAL   Cancer Res 59 (19), 4973-4983 (1999)
   PUBMED   10519411
REFERENCE   9  (bases 1 to 2646)
  AUTHORS   Schultz,D.C., Vanderveer,L., Berman,D.B., Hamilton,T.C., Wong,A.J.
            and Godwin,A.K.
  TITLE     Identification of two candidate tumor suppressor genes on
            chromosome 17p13.3
  JOURNAL   Cancer Res 56 (9), 1997-2002 (1996)
   PUBMED   8616839
REFERENCE   10 (bases 1 to 2646)
  AUTHORS   Phillips,N.J., Zeigler,M.R. and Deaven,L.L.
  TITLE     A cDNA from the ovarian cancer critical region of deletion on
            chromosome 17p13.3
  JOURNAL   Cancer Lett 102 (1-2), 85-90 (1996)
   PUBMED   8603384
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U34880.1, AF321876.1 and
            AC090617.16.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Apr 29, 2020 this sequence version replaced NM_001383.5.
            
            Summary: The protein encoded by this gene is an enzyme involved in
            the biosynthesis of diphthamide, a modified histidine found only in
            elongation factor-2 (EEF2). Diphthamide residues in EEF2 are
            targeted for ADP-ribosylation by diphtheria toxin and Pseudomonas
            exotoxin A. Defects in this gene have been associated with both
            ovarian cancer and autosomal recessive intellectual disability with
            short stature, craniofacial, and ectodermal anomalies. [provided by
            RefSeq, Oct 2016].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            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 :: SRR14038191.931828.1,
                                           SRR14038193.865431.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000263083.12/
                                                ENSP00000263083.7
            RefSeq Select criteria           :: based on manual assertion,
                                                conservation, expression,
                                                longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-25                U34880.1           54-78
            26-1012             AF321876.1         42-1028
            1013-1013           AC090617.16        186520-186520       c
            1014-1615           AF321876.1         1030-1631
            1616-2138           AC090617.16        183724-184246       c
            2139-2179           AF321876.1         2155-2195
            2180-2646           AC090617.16        183216-183682       c
FEATURES             Location/Qualifiers
     source          1..2646
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.3"
     gene            1..2646
                     /gene="DPH1"
                     /gene_synonym="DEDSSH; DPH2L; DPH2L1; OVCA1"
                     /note="diphthamide biosynthesis 1"
                     /db_xref="GeneID:1801"
                     /db_xref="HGNC:HGNC:3003"
                     /db_xref="MIM:603527"
     exon            1..78
                     /gene="DPH1"
                     /gene_synonym="DEDSSH; DPH2L; DPH2L1; OVCA1"
                     /inference="alignment:Splign:2.1.0"
     CDS             18..1334
                     /gene="DPH1"
                     /gene_synonym="DEDSSH; DPH2L; DPH2L1; OVCA1"
                     /EC_number="2.5.1.108"
                     /note="isoform 1 is encoded by transcript variant 1;
                     candidate tumor suppressor in ovarian cancer 1; DPH-like
                     1; diptheria toxin resistance protein required for
                     diphthamide biosynthesis (Saccharomyces)-like 1; ovarian
                     tumor suppressor candidate 1; diphthamide biosynthesis
                     protein 1; ovarian cancer-associated gene 1 protein;
                     diphthamide biosynthesis protein 2 homolog-like 1;
                     DPH2-like 1; DPH1 homolog; diphtheria toxin resistance
                     protein 1; S-adenosyl-L-methionine:L-histidine
                     3-amino-3-carboxypropyltransferase 1;
                     2-(3-amino-3-carboxypropyl)histidine synthase subunit 1"
                     /codon_start=1
                     /product="2-(3-amino-3-carboxypropyl)histidine synthase
                     subunit 1 isoform 1"
                     /protein_id="NP_001374.4"
                     /db_xref="CCDS:CCDS42228.2"
                     /db_xref="GeneID:1801"
                     /db_xref="HGNC:HGNC:3003"
                     /db_xref="MIM:603527"
                     /translation="MAALVVSGAAEQGGRDGPGRGRAPRGRVANQIPPEILKNPQLQA
                     AIRVLPSNYNFEIPKTIWRIQQAQAKKVALQMPEGLLLFACTIVDILERFTEAEVMVM
                     GDVTYGACCVDDFTARALGADFLVHYGHSCLIPMDTSAQDFRVLYVFVDIRIDTTHLL
                     DSLRLTFPPATALALVSTIQFVSTLQAAAQELKAEYRVSVPQCKPLSPGEILGCTSPR
                     LSKEVEAVVYLGDGRFHLESVMIANPNVPAYRYDPYSKVLSREHYDHQRMQAARQEAI
                     ATARSAKSWGLILGTLGRQGSPKILEHLESRLRALGLSFVRLLLSEIFPSKLSLLPEV
                     DVWVQVACPRLSIDWGTAFPKPLLTPYEAAVALRDISWQQPYPMDFYAGSSLGPWTVN
                     HGQDRRPHAPGRPARGKVQEGSARPPSAVACEDCSCRDEKVAPLAP"
     exon            79..231
                     /gene="DPH1"
                     /gene_synonym="DEDSSH; DPH2L; DPH2L1; OVCA1"
                     /inference="alignment:Splign:2.1.0"
     exon            232..295
                     /gene="DPH1"
                     /gene_synonym="DEDSSH; DPH2L; DPH2L1; OVCA1"
                     /inference="alignment:Splign:2.1.0"
     exon            296..417
                     /gene="DPH1"
                     /gene_synonym="DEDSSH; DPH2L; DPH2L1; OVCA1"
                     /inference="alignment:Splign:2.1.0"
     exon            418..575
                     /gene="DPH1"
                     /gene_synonym="DEDSSH; DPH2L; DPH2L1; OVCA1"
                     /inference="alignment:Splign:2.1.0"
     exon            576..697
                     /gene="DPH1"
                     /gene_synonym="DEDSSH; DPH2L; DPH2L1; OVCA1"
                     /inference="alignment:Splign:2.1.0"
     exon            698..766
                     /gene="DPH1"
                     /gene_synonym="DEDSSH; DPH2L; DPH2L1; OVCA1"
                     /inference="alignment:Splign:2.1.0"
     exon            767..923
                     /gene="DPH1"
                     /gene_synonym="DEDSSH; DPH2L; DPH2L1; OVCA1"
                     /inference="alignment:Splign:2.1.0"
     exon            924..1024
                     /gene="DPH1"
                     /gene_synonym="DEDSSH; DPH2L; DPH2L1; OVCA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1025..1103
                     /gene="DPH1"
                     /gene_synonym="DEDSSH; DPH2L; DPH2L1; OVCA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1104..1244
                     /gene="DPH1"
                     /gene_synonym="DEDSSH; DPH2L; DPH2L1; OVCA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1245..1352
                     /gene="DPH1"
                     /gene_synonym="DEDSSH; DPH2L; DPH2L1; OVCA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1353..2646
                     /gene="DPH1"
                     /gene_synonym="DEDSSH; DPH2L; DPH2L1; OVCA1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2155..2160
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DPH1"
                     /gene_synonym="DEDSSH; DPH2L; DPH2L1; OVCA1"
                     /note="hexamer: AATAAA"
     polyA_site      2173
                     /gene="DPH1"
                     /gene_synonym="DEDSSH; DPH2L; DPH2L1; OVCA1"
                     /note="major polyA site"
     regulatory      2617..2622
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DPH1"
                     /gene_synonym="DEDSSH; DPH2L; DPH2L1; OVCA1"
                     /note="hexamer: AATAAA"
     polyA_site      2646
                     /gene="DPH1"
                     /gene_synonym="DEDSSH; DPH2L; DPH2L1; OVCA1"
ORIGIN      
        1 acatgcgcag gcaggtgatg gcggcgctgg tcgtatccgg ggcagcggag cagggcggcc
       61 gagacggccc tggcagaggt cgggcccctc ggggccgcgt ggccaatcag atcccccctg
      121 agatcctgaa gaaccctcag ctgcaggcag caatccgggt cctgccttcc aactacaact
      181 ttgagatccc caagaccatc tggaggatcc aacaagccca ggccaagaag gtggccttgc
      241 aaatgccgga aggcctcctc ctctttgcct gtaccattgt ggatatcttg gaaaggttca
      301 cggaggccga agtgatggtg atgggtgacg tgacctacgg ggcttgctgt gtggatgact
      361 tcacagcgag ggccctggga gctgacttct tggtgcacta cggccacagt tgcctgattc
      421 ccatggacac ctcggcccaa gacttccggg tgctgtacgt ctttgtggac atccggatag
      481 acactacaca cctcctggac tctctccgcc tcacctttcc cccagccact gcccttgccc
      541 tggtcagcac cattcagttt gtgtcgacct tgcaggcagc cgcccaggag ctgaaagccg
      601 agtatcgtgt gagtgtccca cagtgcaagc ccctgtcccc tggagagatc ctgggctgca
      661 catccccccg actgtccaaa gaggtggagg ccgttgtgta tcttggagat ggccgcttcc
      721 atctggagtc tgtcatgatt gccaacccca atgtccccgc ttaccggtat gacccatata
      781 gcaaagtcct atccagagaa cactatgacc accagcgcat gcaggctgct cgccaagaag
      841 ccatagccac tgcccgctca gctaagtcct ggggccttat tctgggcact ttgggccgcc
      901 agggcagtcc taagatcctg gagcacctgg aatctcgact ccgagccttg ggcctttcct
      961 ttgtgaggct gctgctctct gagatcttcc ccagcaagct tagcctactt cctgaggtgg
     1021 atgtgtgggt gcaggtggca tgtccacgtc tctccattga ctggggcaca gccttcccca
     1081 agccgctgct gacaccctat gaggcggccg tggctctgag ggacatttcc tggcagcagc
     1141 cctacccgat ggacttctac gctggcagct ccttggggcc ctggacggtg aaccacggcc
     1201 aggaccgccg tccccacgcc ccgggccggc ccgcgcgggg gaaggtgcag gaggggtccg
     1261 cgcgtccccc ttcggccgtg gcttgcgagg actgcagctg cagggacgag aaggtggcgc
     1321 cgctggctcc ttgacgcgct cccgggcctc agggtcctgc cctccggagg agcagcctcg
     1381 aggctggtgg ttttcagagc aggaggccga cgttttctcc gcattggaag agcccgccgt
     1441 ctgcaggggc ctggaggaat cactggggat ggtggcacag gcactgaaca ggctggggcc
     1501 ttttgacggc cttcttggtt tcagccaagg ggctgcgcta gcagcccttg tgtgtgccct
     1561 gggccaggca ggcgatcccc gcttcccctt gccacggttt atcctcttgg tgtctggttt
     1621 ctgtccccgg ggcattgggt tcaaggaatc catcctgcaa aggcccttgt cattgccttc
     1681 gctccatgtt tttggggaca ctgacaaagt catcccctct caggagagtg tgcaactggc
     1741 cagccaattt cccggagcca tcaccctcac ccactctggt ggccacttca ttccagcagc
     1801 tgcaccccag cgtcaggcct acctcaagtt cttggaccag tttgcagagt gaaagatcaa
     1861 gaaatgtctc tgctcctaca tccagctcct ctaggggcag cctccgtcat ccatgccctc
     1921 ccaggaccct ccactcactg ctgtgagtgc gcctcaccag aaccagttaa gagacaacta
     1981 tcaattcttg agacccaaat tataagggcc ctgccctgta ctgaagaaaa ggggagcaca
     2041 aggccttaat ggacattgac ttgtgaaaac gcaaacatga atatggttgg agagccctgg
     2101 attaggaggg tgacatgggg aaggcagagg ctggcaccat ggtgactgcc acataataaa
     2161 gtggtgattt ggattttgag catctttttc ctggtacaca cagaaaaaca ttttataatg
     2221 gaagtcggtt tcttggccat ctacatagtt ttctgggcag cgccaagcag ggaggtgtct
     2281 ccagttgtga gtcctcggac aggctgctgc atgggtgcac atactcacgt tattggtgga
     2341 agttttaagt cccaaactga agggaaggag gcctaggtgg cacaatcagg gaggaatata
     2401 catctgagaa gttttgggaa gacatcacct ggcaaggctg cctgaaccac agtaatttag
     2461 tcttcctcta tccagatcac tgagagttgt gtgctggtct tctctcaaac cctggatgtg
     2521 ttacctgctt ctccctaagt gctctaacct cgctgaacta tgagcctgaa gggtgggtcg
     2581 atgccagacc ttaggtggag gccaaagaca gtacagaata aacagcttct tcctaaattg
     2641 acccca
//
