LOCUS       NM_001930               1345 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens deoxyhypusine synthase (DHPS), transcript variant 1,
            mRNA.
ACCESSION   NM_001930 NM_013407
VERSION     NM_001930.4
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 1345)
  AUTHORS   Liao,T.Y., Huang,Y.T., Lee,T.F., Hsueh,P.R., Yu,C.J. and Chien,J.Y.
  TITLE     Clinical significance of mutations in dihydropteroate synthase in
            Pneumocystis jirovecii pneumonia among non-HIV-infected patients
  JOURNAL   Int J Antimicrob Agents 63 (1), 107019 (2024)
   PUBMED   37925109
  REMARK    GeneRIF: Clinical significance of mutations in dihydropteroate
            synthase in Pneumocystis jirovecii pneumonia among non-HIV-infected
            patients.
REFERENCE   2  (bases 1 to 1345)
  AUTHORS   Padgett,L.R., Shinkle,M.R., Rosario,S., Stewart,T.M., Foley,J.R.,
            Casero,R.A. Jr., Park,M.H., Chung,W.K. and Mastracci,T.L.
  TITLE     Deoxyhypusine synthase mutations alter the post-translational
            modification of eukaryotic initiation factor 5A resulting in
            impaired human and mouse neural homeostasis
  JOURNAL   HGG Adv 4 (3), 100206 (2023)
   PUBMED   37333770
  REMARK    GeneRIF: Deoxyhypusine synthase mutations alter the
            post-translational modification of eukaryotic initiation factor 5A
            resulting in impaired human and mouse neural homeostasis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1345)
  AUTHORS   Wator,E., Wilk,P., Biela,A., Rawski,M., Zak,K.M., Steinchen,W.,
            Bange,G., Glatt,S. and Grudnik,P.
  TITLE     Cryo-EM structure of human eIF5A-DHS complex reveals the molecular
            basis of hypusination-associated neurodegenerative disorders
  JOURNAL   Nat Commun 14 (1), 1698 (2023)
   PUBMED   36973244
  REMARK    GeneRIF: Cryo-EM structure of human eIF5A-DHS complex reveals the
            molecular basis of hypusination-associated neurodegenerative
            disorders.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1345)
  AUTHORS   Becker,A.E., Wu,P.K. and Park,J.I.
  TITLE     eIF5A-Independent Role of DHPS in p21CIP1 and Cell Fate Regulation
  JOURNAL   Int J Mol Sci 22 (24), 13187 (2021)
   PUBMED   34947982
  REMARK    GeneRIF: eIF5A-Independent Role of DHPS in p21(CIP1) and Cell Fate
            Regulation.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1345)
  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   6  (bases 1 to 1345)
  AUTHORS   Yan,Y.P., Tao,Y. and Chen,K.Y.
  TITLE     Molecular cloning and functional expression of human deoxyhypusine
            synthase cDNA based on expressed sequence tag information
  JOURNAL   Biochem J 315 (Pt 2) (Pt 2), 429-434 (1996)
   PUBMED   8615810
REFERENCE   7  (bases 1 to 1345)
  AUTHORS   Bevec,D., Kappel,B., Jaksche,H., Csonga,R., Hauber,J., Klier,H. and
            Steinkasserer,A.
  TITLE     Molecular characterization of a cDNA encoding functional human
            deoxyhypusine synthase and chromosomal mapping of the corresponding
            gene locus
  JOURNAL   FEBS Lett 378 (2), 195-198 (1996)
   PUBMED   8549832
REFERENCE   8  (bases 1 to 1345)
  AUTHORS   Joe,Y.A., Wolff,E.C. and Park,M.H.
  TITLE     Cloning and expression of human deoxyhypusine synthase cDNA.
            Structure-function studies with the recombinant enzyme and mutant
            proteins
  JOURNAL   J Biol Chem 270 (38), 22386-22392 (1995)
   PUBMED   7673224
REFERENCE   9  (bases 1 to 1345)
  AUTHORS   Klier,H., Csonga,R., Steinkasserer,A., Wohl,T., Lottspeich,F. and
            Eder,J.
  TITLE     Purification and characterization of human deoxyhypusine synthase
            from HeLa cells
  JOURNAL   FEBS Lett 364 (2), 207-210 (1995)
   PUBMED   7750572
REFERENCE   10 (bases 1 to 1345)
  AUTHORS   Joe,Y.A. and Park,M.H.
  TITLE     Structural features of the eIF-5A precursor required for
            posttranslational synthesis of deoxyhypusine
  JOURNAL   J Biol Chem 269 (41), 25916-25921 (1994)
   PUBMED   7929297
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA524549.1, U79262.1 and
            AW250887.1.
            
            On or before Apr 15, 2019 this sequence version replaced
            NM_013407.1, NM_001930.3.
            
            Summary: This gene encodes a protein that is required for the
            formation of hypusine, a unique amino acid formed by the
            posttranslational modification of only one protein, eukaryotic
            translation initiation factor 5A. The encoded protein catalyzes the
            first step in hypusine formation by transferring the butylamine
            moiety of spermidine to a specific lysine residue of the eukaryotic
            translation initiation factor 5A precursor, forming an intermediate
            deoxyhypusine residue. Alternatively spliced transcript variants
            encoding multiple isoforms have been observed for this gene.
            [provided by RefSeq, May 2011].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            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 :: SRR5189658.221697.1,
                                           SRR3476690.88793.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000210060.12/ ENSP00000210060.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                DA524549.1         9-27
            20-1339             U79262.1           1-1320
            1340-1345           AW250887.1         10-15               c
FEATURES             Location/Qualifiers
     source          1..1345
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.13"
     gene            1..1345
                     /gene="DHPS"
                     /gene_synonym="DHS; DS; MIG13; NEDSSWI"
                     /note="deoxyhypusine synthase"
                     /db_xref="GeneID:1725"
                     /db_xref="HGNC:HGNC:2869"
                     /db_xref="MIM:600944"
     exon            1..321
                     /gene="DHPS"
                     /gene_synonym="DHS; DS; MIG13; NEDSSWI"
                     /inference="alignment:Splign:2.1.0"
     CDS             115..1224
                     /gene="DHPS"
                     /gene_synonym="DHS; DS; MIG13; NEDSSWI"
                     /EC_number="2.5.1.46"
                     /note="isoform a is encoded by transcript variant 1;
                     migration-inducing gene 13"
                     /codon_start=1
                     /product="deoxyhypusine synthase isoform a"
                     /protein_id="NP_001921.1"
                     /db_xref="CCDS:CCDS12276.1"
                     /db_xref="GeneID:1725"
                     /db_xref="HGNC:HGNC:2869"
                     /db_xref="MIM:600944"
                     /translation="MEGSLEREAPAGALAAVLKHSSTLPPESTQVRGYDFNRGVNYRA
                     LLEAFGTTGFQATNFGRAVQQVNAMIEKKLEPLSQDEDQHADLTQSRRPLTSCTIFLG
                     YTSNLISSGIRETIRYLVQHNMVDVLVTTAGGVEEDLIKCLAPTYLGEFSLRGKELRE
                     NGINRIGNLLVPNENYCKFEDWLMPILDQMVMEQNTEGVKWTPSKMIARLGKEINNPE
                     SVYYWAQKNHIPVFSPALTDGSLGDMIFFHSYKNPGLVLDIVEDLRLINTQAIFAKCT
                     GMIILGGGVVKHHIANANLMRNGADYAVYINTAQEFDGSDSGARPDEAVSWGKIRVDA
                     QPVKVYADASLVFPLLVAETFAQKMDAFMHEKNED"
     exon            322..486
                     /gene="DHPS"
                     /gene_synonym="DHS; DS; MIG13; NEDSSWI"
                     /inference="alignment:Splign:2.1.0"
     exon            487..608
                     /gene="DHPS"
                     /gene_synonym="DHS; DS; MIG13; NEDSSWI"
                     /inference="alignment:Splign:2.1.0"
     exon            609..705
                     /gene="DHPS"
                     /gene_synonym="DHS; DS; MIG13; NEDSSWI"
                     /inference="alignment:Splign:2.1.0"
     exon            706..792
                     /gene="DHPS"
                     /gene_synonym="DHS; DS; MIG13; NEDSSWI"
                     /inference="alignment:Splign:2.1.0"
     exon            793..898
                     /gene="DHPS"
                     /gene_synonym="DHS; DS; MIG13; NEDSSWI"
                     /inference="alignment:Splign:2.1.0"
     exon            899..1002
                     /gene="DHPS"
                     /gene_synonym="DHS; DS; MIG13; NEDSSWI"
                     /inference="alignment:Splign:2.1.0"
     exon            1003..1128
                     /gene="DHPS"
                     /gene_synonym="DHS; DS; MIG13; NEDSSWI"
                     /inference="alignment:Splign:2.1.0"
     exon            1129..1345
                     /gene="DHPS"
                     /gene_synonym="DHS; DS; MIG13; NEDSSWI"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1319..1324
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DHPS"
                     /gene_synonym="DHS; DS; MIG13; NEDSSWI"
                     /note="hexamer: AATAAG"
     polyA_site      1345
                     /gene="DHPS"
                     /gene_synonym="DHS; DS; MIG13; NEDSSWI"
                     /note="major polyA site"
ORIGIN      
        1 gttccctact tcctgtgctc ttgcggagac gcgcgcgtcg gggtttaacg cgtttctggg
       61 ccgccgtaag cccggcctag gggcagcttt gactcgagag ccggctatag gcgcatggaa
      121 ggttccctgg aacgggaggc gccagcgggg gcgctggccg ccgtgctaaa gcacagctcg
      181 acgttgccgc ccgaaagcac ccaggtccgg ggctacgact tcaaccgcgg tgtgaattac
      241 cgcgcactgc tggaggcctt cggcaccacc ggcttccaag caaccaactt cgggcgcgct
      301 gtacagcaag tcaatgccat gatcgagaag aagctggaac cactgtcaca ggatgaagac
      361 cagcacgcgg acctgaccca gagccgccgc ccacttacca gctgcaccat tttcctggga
      421 tatacatcca acctcatcag ttcaggcatc cgtgagacca ttcgctacct tgtgcagcac
      481 aacatggtgg acgtattggt gaccacagct ggcggcgtgg aggaagacct catcaagtgc
      541 ctggcgccca catacttggg cgagtttagc ctcaggggga aggagctccg ggagaacggg
      601 atcaatagga tcggaaacct gctggtgccc aatgagaatt actgcaagtt tgaggactgg
      661 ctgatgccca ttctggacca gatggtgatg gagcagaaca cagagggtgt aaagtggacg
      721 ccttctaaga tgatcgcccg gctgggcaag gagatcaaca acccagagtc cgtgtattac
      781 tgggcccaga agaaccacat ccctgtgttt agtcccgcac ttacagacgg ctcgctgggc
      841 gacatgatct tcttccattc ctacaagaac ccgggcctgg tcctggacat cgttgaggac
      901 ctgaggctca tcaacacaca ggccatcttt gccaagtgca ctgggatgat cattctgggc
      961 gggggcgtgg tcaagcacca cattgccaat gccaacctca tgcggaacgg ggccgactac
     1021 gctgtttaca tcaacacagc ccaggagttt gatggctctg actcaggtgc ccgaccagac
     1081 gaggctgtct cctggggcaa gatccgggtg gatgcacagc ccgtcaaggt ctatgctgac
     1141 gcctccctgg tcttccccct gcttgtggct gaaacctttg cccagaagat ggatgccttc
     1201 atgcatgaga agaacgagga ctgagcggct gcggtcccag gaaggtctta ccccctcttc
     1261 tatttattaa tttgcagacc cagcccctcc cctacttttt ggtcagctac gtctctagaa
     1321 taagatggta tctgaagtcc ttcca
//
