LOCUS       NM_001500               1665 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens GDP-mannose 4,6-dehydratase (GMDS), transcript variant
            1, mRNA.
ACCESSION   NM_001500
VERSION     NM_001500.4
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 1665)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1665)
  AUTHORS   Eisemann,T., Langelier,M.F. and Pascal,J.M.
  TITLE     Structural and functional analysis of parameters governing
            tankyrase-1 interaction with telomeric repeat-binding factor 1 and
            GDP-mannose 4,6-dehydratase
  JOURNAL   J Biol Chem 294 (40), 14574-14590 (2019)
   PUBMED   31375564
  REMARK    GeneRIF: we present an analysis of the sequence and structural
            features governing TNKS interactions with two model binding
            partners: the PARylated partner telomeric repeat-binding factor 1
            (TRF1) and the non-PARylated partner GDP-mannose 4,6-dehydratase
            (GMD).
REFERENCE   3  (bases 1 to 1665)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1665)
  AUTHORS   Wei,X., Zhang,K., Qin,H., Zhu,J., Qin,Q., Yu,Y. and Wang,H.
  TITLE     GMDS knockdown impairs cell proliferation and survival in human
            lung adenocarcinoma
  JOURNAL   BMC Cancer 18 (1), 600 (2018)
   PUBMED   29843634
  REMARK    GeneRIF: Study findings suggest that GMDS upregulation is critical
            for cell proliferation and survival in human lung adenocarcinoma
            and might serve as a potential biomarker for lung adenocarcinoma
            diagnosis and treatment.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1665)
  AUTHORS   Zhong,Q., Pevzner,S.J., Hao,T., Wang,Y., Mosca,R., Menche,J.,
            Taipale,M., Tasan,M., Fan,C., Yang,X., Haley,P., Murray,R.R.,
            Mer,F., Gebreab,F., Tam,S., MacWilliams,A., Dricot,A., Reichert,P.,
            Santhanam,B., Ghamsari,L., Calderwood,M.A., Rolland,T.,
            Charloteaux,B., Lindquist,S., Barabasi,A.L., Hill,D.E., Aloy,P.,
            Cusick,M.E., Xia,Y., Roth,F.P. and Vidal,M.
  TITLE     An inter-species protein-protein interaction network across vast
            evolutionary distance
  JOURNAL   Mol Syst Biol 12 (4), 865 (2016)
   PUBMED   27107014
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1665)
  AUTHORS   Persson,B., Kallberg,Y., Bray,J.E., Bruford,E., Dellaporta,S.L.,
            Favia,A.D., Duarte,R.G., Jornvall,H., Kavanagh,K.L., Kedishvili,N.,
            Kisiela,M., Maser,E., Mindnich,R., Orchard,S., Penning,T.M.,
            Thornton,J.M., Adamski,J. and Oppermann,U.
  TITLE     The SDR (short-chain dehydrogenase/reductase and related enzymes)
            nomenclature initiative
  JOURNAL   Chem Biol Interact 178 (1-3), 94-98 (2009)
   PUBMED   19027726
REFERENCE   7  (bases 1 to 1665)
  AUTHORS   Roos,C., Kolmer,M., Mattila,P. and Renkonen,R.
  TITLE     Composition of Drosophila melanogaster proteome involved in
            fucosylated glycan metabolism
  JOURNAL   J Biol Chem 277 (5), 3168-3175 (2002)
   PUBMED   11698403
REFERENCE   8  (bases 1 to 1665)
  AUTHORS   Eshel,R., Besser,M., Zanin,A., Sagi-Assif,O. and Witz,I.P.
  TITLE     The FX enzyme is a functional component of lymphocyte activation
  JOURNAL   Cell Immunol 213 (2), 141-148 (2001)
   PUBMED   11831876
  REMARK    GeneRIF: FX takes part in the cascade of events leading to the
            extravasation of activated lymphocytes.
REFERENCE   9  (bases 1 to 1665)
  AUTHORS   Ohyama,C., Smith,P.L., Angata,K., Fukuda,M.N., Lowe,J.B. and
            Fukuda,M.
  TITLE     Molecular cloning and expression of GDP-D-mannose-4,6-dehydratase,
            a key enzyme for fucose metabolism defective in Lec13 cells
  JOURNAL   J Biol Chem 273 (23), 14582-14587 (1998)
   PUBMED   9603974
REFERENCE   10 (bases 1 to 1665)
  AUTHORS   Sullivan,F.X., Kumar,R., Kriz,R., Stahl,M., Xu,G.Y., Rouse,J.,
            Chang,X.J., Boodhoo,A., Potvin,B. and Cumming,D.A.
  TITLE     Molecular cloning of human GDP-mannose 4,6-dehydratase and
            reconstitution of GDP-fucose biosynthesis in vitro
  JOURNAL   J Biol Chem 273 (14), 8193-8202 (1998)
   PUBMED   9525924
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BQ923510.1, AF042377.1 and BM665440.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001500.3.
            
            Summary: GDP-mannose 4,6-dehydratase (GMD; EC 4.2.1.47) catalyzes
            the conversion of GDP-mannose to GDP-4-keto-6-deoxymannose, the
            first step in the synthesis of GDP-fucose from GDP-mannose, using
            NADP+ as a cofactor. The second and third steps of the pathway are
            catalyzed by a single enzyme, GDP-keto-6-deoxymannose
            3,5-epimerase, 4-reductase, designated FX in humans (MIM
            137020).[supplied by OMIM, Aug 2009].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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 :: BC000117.1, SRR1163658.430804.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155751 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380815.5/ ENSP00000370194.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-108               BQ923510.1         30-137
            109-1627            AF042377.1         1-1519
            1628-1665           BM665440.1         22-59               c
FEATURES             Location/Qualifiers
     source          1..1665
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p25.3"
     gene            1..1665
                     /gene="GMDS"
                     /gene_synonym="GMD; SDR3E1"
                     /note="GDP-mannose 4,6-dehydratase"
                     /db_xref="GeneID:2762"
                     /db_xref="HGNC:HGNC:4369"
                     /db_xref="MIM:602884"
     exon            1..285
                     /gene="GMDS"
                     /gene_synonym="GMD; SDR3E1"
                     /inference="alignment:Splign:2.1.0"
     CDS             184..1302
                     /gene="GMDS"
                     /gene_synonym="GMD; SDR3E1"
                     /EC_number="4.2.1.47"
                     /note="isoform 1 is encoded by transcript variant 1; short
                     chain dehydrogenase/reductase family 3E, member 1;
                     GDP-D-mannose dehydratase"
                     /codon_start=1
                     /product="GDP-mannose 4,6 dehydratase isoform 1"
                     /protein_id="NP_001491.1"
                     /db_xref="CCDS:CCDS4474.1"
                     /db_xref="GeneID:2762"
                     /db_xref="HGNC:HGNC:4369"
                     /db_xref="MIM:602884"
                     /translation="MAHAPARCPSARGSGDGEMGKPRNVALITGITGQDGSYLAEFLL
                     EKGYEVHGIVRRSSSFNTGRIEHLYKNPQAHIEGNMKLHYGDLTDSTCLVKIINEVKP
                     TEIYNLGAQSHVKISFDLAEYTADVDGVGTLRLLDAVKTCGLINSVKFYQASTSELYG
                     KVQEIPQKETTPFYPRSPYGAAKLYAYWIVVNFREAYNLFAVNGILFNHESPRRGANF
                     VTRKISRSVAKIYLGQLECFSLGNLDAKRDWGHAKDYVEAMWLMLQNDEPEDFVIATG
                     EVHSVREFVEKSFLHIGKTIVWEGKNENEVGRCKETGKVHVTVDLKYYRPTEVDFLQG
                     DCTKAKQKLNWKPRVAFDELVREMVHADVELMRTNPNA"
     exon            286..330
                     /gene="GMDS"
                     /gene_synonym="GMD; SDR3E1"
                     /inference="alignment:Splign:2.1.0"
     exon            331..418
                     /gene="GMDS"
                     /gene_synonym="GMD; SDR3E1"
                     /inference="alignment:Splign:2.1.0"
     exon            419..528
                     /gene="GMDS"
                     /gene_synonym="GMD; SDR3E1"
                     /inference="alignment:Splign:2.1.0"
     exon            529..721
                     /gene="GMDS"
                     /gene_synonym="GMD; SDR3E1"
                     /inference="alignment:Splign:2.1.0"
     exon            722..826
                     /gene="GMDS"
                     /gene_synonym="GMD; SDR3E1"
                     /inference="alignment:Splign:2.1.0"
     exon            827..954
                     /gene="GMDS"
                     /gene_synonym="GMD; SDR3E1"
                     /inference="alignment:Splign:2.1.0"
     exon            955..1073
                     /gene="GMDS"
                     /gene_synonym="GMD; SDR3E1"
                     /inference="alignment:Splign:2.1.0"
     exon            1074..1170
                     /gene="GMDS"
                     /gene_synonym="GMD; SDR3E1"
                     /inference="alignment:Splign:2.1.0"
     exon            1171..1239
                     /gene="GMDS"
                     /gene_synonym="GMD; SDR3E1"
                     /inference="alignment:Splign:2.1.0"
     exon            1240..1665
                     /gene="GMDS"
                     /gene_synonym="GMD; SDR3E1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1637..1642
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GMDS"
                     /gene_synonym="GMD; SDR3E1"
                     /note="hexamer: ATTAAA"
     polyA_site      1665
                     /gene="GMDS"
                     /gene_synonym="GMD; SDR3E1"
                     /note="major polyA site"
ORIGIN      
        1 ctccctgcac ggcctcccgt gcgcccctgt cagactgtgg cggccggtcg cgcggtgcgc
       61 tctccctccc tgcccgcagc ctggagaggc gcttcgtgct gcacaccccc gcgttcctgc
      121 cggcaccgcg cctgccctct gccgcgctcc gccctgccgc cgaccgcacg cccgccgcgg
      181 gacatggcac acgcaccggc acgctgcccc agcgcccggg gctccgggga cggcgagatg
      241 ggcaagccca ggaacgtggc gctcatcacc ggtatcacag gccaggatgg ttcctacctg
      301 gctgagttcc tgctggagaa aggctatgag gtccatggaa ttgtacggcg gtccagttca
      361 tttaatacgg gtcgaattga gcatctgtat aagaatcccc aggctcacat tgaaggaaac
      421 atgaagttgc actatggcga tctcactgac agtacctgcc ttgtgaagat cattaatgaa
      481 gtaaagccca cagagatcta caaccttgga gcccagagcc acgtcaaaat ttcctttgac
      541 ctcgctgagt acactgcgga cgttgacgga gttggcactc tacgacttct agatgcagtt
      601 aagacttgtg gccttatcaa ctctgtgaag ttctaccaag cctcaacaag tgaactttat
      661 gggaaagtgc aggaaatacc ccagaaggag accacccctt tctatccccg gtcaccctat
      721 ggggcagcaa aactctatgc ctattggatt gtggtgaact tccgtgaggc gtataatctc
      781 tttgcagtga acggcattct cttcaatcat gagagtccca gaagaggagc taatttcgtt
      841 actcgaaaaa ttagccggtc agtagctaag atttaccttg gacaactgga atgtttcagt
      901 ttgggaaatc tggatgccaa acgagattgg ggccatgcca aggactatgt ggaggctatg
      961 tggttgatgt tgcagaatga tgagccggag gacttcgtta tagctactgg ggaggtccat
     1021 agtgtccggg aatttgtcga gaaatcattc ttgcacattg gaaaaaccat tgtgtgggaa
     1081 ggaaagaatg aaaatgaagt gggcagatgt aaagagaccg gcaaagttca cgtgactgtg
     1141 gatctcaagt actaccggcc aactgaagtg gactttctgc agggcgactg caccaaagcg
     1201 aaacagaagc tgaactggaa gccccgggtc gctttcgatg agctggtgag ggagatggtg
     1261 cacgccgacg tggagctcat gaggacaaac cccaatgcct gagcagcgcc tcggagcccg
     1321 gcccgccctc cggctacaat ccccgcagag tctccggtgc agacgcgctg cggggatggg
     1381 gagcggcgtg ccaatctgcg ggtcccctgc ggcccctgct gccgctgcgc tgtcccggcc
     1441 gcaagagcgg ggccgccccg ccgaggtttg tagcagccgg gatgtgaccc tccagggttt
     1501 gggtcgcttt gcgtttgtcg aagcctcctc tgaatggctt tgtgaaatca agatgtttta
     1561 atcacattca ctttacttga aattatgttg ttacacaaca aattgtgggg ccttcaaatt
     1621 gtttttctct tttcatatta aaaatggtct ttctgtgaac tagca
//
