LOCUS       NM_001145165            1763 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens deoxyhypusine hydroxylase (DOHH), transcript variant
            1, mRNA.
ACCESSION   NM_001145165
VERSION     NM_001145165.2
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 1763)
  AUTHORS   Ofek,P., Yeini,E., Arad,G., Danilevsky,A., Pozzi,S., Luna,C.B.,
            Dangoor,S.I., Grossman,R., Ram,Z., Shomron,N., Brem,H., Hyde,T.M.,
            Geiger,T. and Satchi-Fainaro,R.
  TITLE     Deoxyhypusine hydroxylase: A novel therapeutic target
            differentially expressed in short-term vs long-term survivors of
            glioblastoma
  JOURNAL   Int J Cancer 153 (3), 654-668 (2023)
   PUBMED   37141410
  REMARK    GeneRIF: Deoxyhypusine hydroxylase: A novel therapeutic target
            differentially expressed in short-term vs long-term survivors of
            glioblastoma.
REFERENCE   2  (bases 1 to 1763)
  AUTHORS   Ziegler,A., Steindl,K., Hanner,A.S., Kar,R.K., Prouteau,C.,
            Boland,A., Deleuze,J.F., Coubes,C., Bezieau,S., Kury,S.,
            Maystadt,I., Le Mao,M., Lenaers,G., Navet,B., Faivre,L., Tran
            Mau-Them,F., Zanoni,P., Chung,W.K., Rauch,A., Bonneau,D. and
            Park,M.H.
  TITLE     Bi-allelic variants in DOHH, catalyzing the last step of hypusine
            biosynthesis, are associated with a neurodevelopmental disorder
  JOURNAL   Am J Hum Genet 109 (8), 1549-1558 (2022)
   PUBMED   35858628
  REMARK    GeneRIF: Bi-allelic variants in DOHH, catalyzing the last step of
            hypusine biosynthesis, are associated with a neurodevelopmental
            disorder.
REFERENCE   3  (bases 1 to 1763)
  AUTHORS   Guo,Q., Zhang,Y.C., Wang,W., Wang,Y.Q., Liu,Y., Yang,Z., Zhao,M.M.,
            Feng,N., Wang,Y.H., Zhang,X.W., Yang,H., Liu,T.T., Shi,L.Y.,
            Shi,X.M., Liu,D., Tu,P.F. and Zeng,K.W.
  TITLE     Deoxyhypusine hydroxylase as a novel pharmacological target for
            ischemic stroke via inducing a unique post-translational
            hypusination modification
  JOURNAL   Pharmacol Res 176, 106046 (2022)
   PUBMED   35007708
  REMARK    GeneRIF: Deoxyhypusine hydroxylase as a novel pharmacological
            target for ischemic stroke via inducing a unique post-translational
            hypusination modification.
REFERENCE   4  (bases 1 to 1763)
  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   5  (bases 1 to 1763)
  AUTHORS   Han,Z., Sakai,N., Bottger,L.H., Klinke,S., Hauber,J.,
            Trautwein,A.X. and Hilgenfeld,R.
  TITLE     Crystal Structure of the Peroxo-diiron(III) Intermediate of
            Deoxyhypusine Hydroxylase, an Oxygenase Involved in Hypusination
  JOURNAL   Structure 23 (5), 882-892 (2015)
   PUBMED   25865244
  REMARK    GeneRIF: Data describes 3-D structure of hDOHH in two states,
            hDOHHperoxo (POX) and a complex of the diiron core with glycerol
            (GLC) providing an explanation for the extreme longevity of POX and
            illustrate its substrate specificity for deoxyhypusine-eIF-5A.
REFERENCE   6  (bases 1 to 1763)
  AUTHORS   Wolff,E.C., Kang,K.R., Kim,Y.S. and Park,M.H.
  TITLE     Posttranslational synthesis of hypusine: evolutionary progression
            and specificity of the hypusine modification
  JOURNAL   Amino Acids 33 (2), 341-350 (2007)
   PUBMED   17476569
  REMARK    Review article
REFERENCE   7  (bases 1 to 1763)
  AUTHORS   Kang,K.R., Kim,Y.S., Wolff,E.C. and Park,M.H.
  TITLE     Specificity of the deoxyhypusine hydroxylase-eukaryotic translation
            initiation factor (eIF5A) interaction: identification of amino acid
            residues of the enzyme required for binding of its substrate,
            deoxyhypusine-containing eIF5A
  JOURNAL   J Biol Chem 282 (11), 8300-8308 (2007)
   PUBMED   17213197
  REMARK    GeneRIF: analysis of the deoxyhypusine hydroxylase-eukaryotic
            translation initiation factor (eIF5A) interaction
REFERENCE   8  (bases 1 to 1763)
  AUTHORS   Kim,Y.S., Kang,K.R., Wolff,E.C., Bell,J.K., McPhie,P. and Park,M.H.
  TITLE     Deoxyhypusine hydroxylase is a Fe(II)-dependent, HEAT-repeat
            enzyme. Identification of amino acid residues critical for Fe(II)
            binding and catalysis [corrected]
  JOURNAL   J Biol Chem 281 (19), 13217-13225 (2006)
   PUBMED   16533814
  REMARK    GeneRIF: The structure and function of DOHH are reported.
            Erratum:[J Biol Chem. 2007 Apr 6;282(14):10840]
REFERENCE   9  (bases 1 to 1763)
  AUTHORS   Park,M.H.
  TITLE     The post-translational synthesis of a polyamine-derived amino acid,
            hypusine, in the eukaryotic translation initiation factor 5A
            (eIF5A)
  JOURNAL   J Biochem 139 (2), 161-169 (2006)
   PUBMED   16452303
  REMARK    Review article
REFERENCE   10 (bases 1 to 1763)
  AUTHORS   Park,J.H., Aravind,L., Wolff,E.C., Kaevel,J., Kim,Y.S. and
            Park,M.H.
  TITLE     Molecular cloning, expression, and structural prediction of
            deoxyhypusine hydroxylase: a HEAT-repeat-containing metalloenzyme
  JOURNAL   Proc Natl Acad Sci U S A 103 (1), 51-56 (2006)
   PUBMED   16371467
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG491509.1, BC002817.2 and
            BU624567.1.
            
            On Jul 5, 2019 this sequence version replaced NM_001145165.1.
            
            Summary: This gene encodes a metalloenzyme that catalyzes the last
            step in the conversion of lysine to the unique amino acid hypusine
            in eukaryotic initiation factor 5A. The encoded protein
            hydroxylates deoxyhypusine to form hypusine in the mature
            eukaryotic initiation factor 5A protein. Alternative splicing
            results in multiple transcript variants.[provided by RefSeq, Feb
            2009].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants 1 and 2 encode the same protein.
            
            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 :: SRR18074968.3589415.1,
                                           SRR18074969.2015920.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000427575.6/ ENSP00000398882.1
            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
            1-391               BG491509.1         240-630
            392-1216            BC002817.2         369-1193
            1217-1763           BU624567.1         17-563              c
FEATURES             Location/Qualifiers
     source          1..1763
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..1763
                     /gene="DOHH"
                     /gene_synonym="hDOHH; HLRC1; NEDMVIC"
                     /note="deoxyhypusine hydroxylase"
                     /db_xref="GeneID:83475"
                     /db_xref="HGNC:HGNC:28662"
                     /db_xref="MIM:611262"
     exon            1..114
                     /gene="DOHH"
                     /gene_synonym="hDOHH; HLRC1; NEDMVIC"
                     /inference="alignment:Splign:2.1.0"
     exon            115..460
                     /gene="DOHH"
                     /gene_synonym="hDOHH; HLRC1; NEDMVIC"
                     /inference="alignment:Splign:2.1.0"
     CDS             187..1095
                     /gene="DOHH"
                     /gene_synonym="hDOHH; HLRC1; NEDMVIC"
                     /EC_number="1.14.99.29"
                     /note="HEAT-like (PBS lyase) repeat containing 1;
                     deoxyhypusine dioxygenase; deoxyhypusine monooxygenase;
                     HEAT-like repeat-containing protein 1; deoxyhypusine
                     hydroxylase/monooxygenase"
                     /codon_start=1
                     /product="deoxyhypusine hydroxylase"
                     /protein_id="NP_001138637.1"
                     /db_xref="CCDS:CCDS12108.1"
                     /db_xref="GeneID:83475"
                     /db_xref="HGNC:HGNC:28662"
                     /db_xref="MIM:611262"
                     /translation="MVTEQEVDAIGQTLVDPKQPLQARFRALFTLRGLGGPGAIAWIS
                     QAFDDDSALLKHELAYCLGQMQDARAIPMLVDVLQDTRQEPMVRHEAGEALGAIGDPE
                     VLEILKQYSSDPVIEVAETCQLAVRRLEWLQQHGGEPAAGPYLSVDPAPPAEERDVGR
                     LREALLDESRPLFERYRAMFALRNAGGEEAALALAEGLHCGSALFRHEVGYVLGQLQH
                     EAAVPQLAAALARCTENPMVRHECAEALGAIARPACLAALQAHADDPERVVRESCEVA
                     LDMYEHETGRAFQYADGLEQLRGAPS"
     exon            461..537
                     /gene="DOHH"
                     /gene_synonym="hDOHH; HLRC1; NEDMVIC"
                     /inference="alignment:Splign:2.1.0"
     exon            538..775
                     /gene="DOHH"
                     /gene_synonym="hDOHH; HLRC1; NEDMVIC"
                     /inference="alignment:Splign:2.1.0"
     exon            776..1763
                     /gene="DOHH"
                     /gene_synonym="hDOHH; HLRC1; NEDMVIC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1745..1750
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DOHH"
                     /gene_synonym="hDOHH; HLRC1; NEDMVIC"
                     /note="hexamer: ATTAAA"
     polyA_site      1763
                     /gene="DOHH"
                     /gene_synonym="hDOHH; HLRC1; NEDMVIC"
                     /note="major polyA site"
ORIGIN      
        1 gagaaaatgg cggcccccag accgcactgc gggcgtcgcg gcaggtgaag cggtggtggc
       61 agaggcgcct gcggttactg gccgggccga cgggtcctga gtctccagag ctcggttctt
      121 acatccccgc gtccccaggt ttagcctgag cagggttgtg gaaggccggg acccattgac
      181 agcacgatgg tgacggagca ggaggtggat gccatcgggc agacgctggt ggaccccaag
      241 cagcccctgc aggcccgctt ccgggcgctg ttcacgctgc gtgggctcgg cggcccaggc
      301 gccattgcat ggatcagcca ggccttcgat gacgattccg ccctgctcaa gcacgagctg
      361 gcctactgcc tgggccagat gcaggatgcc cgcgccatcc ccatgctggt ggacgtgctg
      421 caagacaccc gtcaggagcc catggtgcgc catgaggcag gggaggccct gggggccatc
      481 ggggacccgg aagttctgga gatcctgaag cagtattcct cggaccccgt catcgaggtg
      541 gccgagacct gccagctggc cgtgcgcagg ctggagtggc tgcagcagca cggcggggag
      601 ccggcggcgg gaccctacct ctccgtggac cctgccccgc cggctgagga gcgtgacgtg
      661 gggcgcctgc gggaggcgct gctggatgag tcccggccgc tcttcgagcg ataccgcgcc
      721 atgttcgccc tgcgcaacgc gggaggcgag gaggccgccc tggcgctggc cgagggtctg
      781 cactgtggga gcgccctctt ccgccacgag gtcggctacg tcctgggaca gctgcagcac
      841 gaggcggcgg tgccccagct ggcggccgcc ctggcccgat gcaccgagaa ccccatggtg
      901 cggcacgagt gcgcggaggc cctgggcgcc attgcccggc ccgcctgcct ggccgcgctg
      961 caggctcacg cggacgaccc agagcgcgtg gtgcgtgaga gctgcgaggt ggctctggac
     1021 atgtatgagc acgagaccgg gcgggccttc cagtacgcgg acggcctgga gcagctgcgc
     1081 ggggccccct cctagggccc caccctcacc cggagctccc ggaggactct tgagggccgc
     1141 tcctcccccg cagagctttg gcgtctaaac cgggtgtgtg taaatcggtg tcatcgcttg
     1201 tgtcttgctg ggcgcatggt tgctgtcccc ctcctccgtc tgggaccgag gagctgccgt
     1261 tgtgctgtga ctccctgagt cccctgactg ctcctcgggg cctggcgcag ggctgtagcg
     1321 tggaagtttc caggcttggg gtgggactct gcgggaggct ctgggatgcc cggctcagga
     1381 caggggagga ttgcgaggga agccagggga ggatcgcgag ggaagccagg ggaggatcgc
     1441 gagggaagcc aggggaggat cgcgagggaa gccaggggag gatcgcgagg gaagccaagg
     1501 gaggatcgcg aggggagcca ggggaggatc gcgagggaag ccaggggcag agctggggct
     1561 ctgggaagag gctgacgtta tggtggcttc agcttcacta ggaatgggac acagggtctg
     1621 ggggcctctg actcccccac cccgaggcct gggtagggac agggtggtgg tccctgagtg
     1681 ggtcaggtag ggcacagggg ccagggaggg acaagcagac ctcagagcgc tgcccagatg
     1741 gaatattaaa ttatttttgc caa
//
