LOCUS       NM_003838               4692 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens fucose-1-phosphate guanylyltransferase (FPGT),
            transcript variant 1, mRNA.
ACCESSION   NM_003838
VERSION     NM_003838.5
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 4692)
  AUTHORS   Yang,X., Coulombe-Huntington,J., Kang,S., Sheynkman,G.M., Hao,T.,
            Richardson,A., Sun,S., Yang,F., Shen,Y.A., Murray,R.R., Spirohn,K.,
            Begg,B.E., Duran-Frigola,M., MacWilliams,A., Pevzner,S.J.,
            Zhong,Q., Wanamaker,S.A., Tam,S., Ghamsari,L., Sahni,N., Yi,S.,
            Rodriguez,M.D., Balcha,D., Tan,G., Costanzo,M., Andrews,B.,
            Boone,C., Zhou,X.J., Salehi-Ashtiani,K., Charloteaux,B., Chen,A.A.,
            Calderwood,M.A., Aloy,P., Roth,F.P., Hill,D.E., Iakoucheva,L.M.,
            Xia,Y. and Vidal,M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   2  (bases 1 to 4692)
  AUTHORS   Quirk,S. and Seley-Radtke,K.L.
  TITLE     Purification, crystallization and preliminary X-ray
            characterization of the human GTP fucose pyrophosphorylase
  JOURNAL   Acta Crystallogr Sect F Struct Biol Cryst Commun 62 (Pt 4), 392-394
            (2006)
   PUBMED   16582493
  REMARK    GeneRIF: A complete native data set has been collected as a first
            step in determining the three-dimensional structure of this enzyme.
REFERENCE   3  (bases 1 to 4692)
  AUTHORS   Quirk,S. and Seley,K.L.
  TITLE     Identification of catalytic amino acids in the human GTP fucose
            pyrophosphorylase active site
  JOURNAL   Biochemistry 44 (39), 13172-13178 (2005)
   PUBMED   16185085
  REMARK    GeneRIF: identified five amino acid residues that are critical for
            catalysis.
REFERENCE   4  (bases 1 to 4692)
  AUTHORS   Quirk,S. and Seley,K.L.
  TITLE     Substrate discrimination by the human GTP fucose pyrophosphorylase
  JOURNAL   Biochemistry 44 (32), 10854-10863 (2005)
   PUBMED   16086588
  REMARK    GeneRIF: the nature of the purine base is the major determinant in
            substrate specificity, followed by the nature of the hexose-1-P,
            and finally by the ribose moiety. Binding is enthalpy-driven and
            does not involve proton transfer
REFERENCE   5  (bases 1 to 4692)
  AUTHORS   Pastuszak,I., Ketchum,C., Hermanson,G., Sjoberg,E.J., Drake,R. and
            Elbein,A.D.
  TITLE     GDP-L-fucose pyrophosphorylase. Purification, cDNA cloning, and
            properties of the enzyme
  JOURNAL   J Biol Chem 273 (46), 30165-30174 (1998)
   PUBMED   9804772
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC098692.3.
            
            On Jul 1, 2020 this sequence version replaced NM_003838.4.
            
            Summary: L-fucose is a key sugar in glycoproteins and other complex
            carbohydrates since it may be involved in many of the functional
            roles of these macromolecules, such as in cell-cell recognition.
            The fucosyl donor for these fucosylated oligosaccharides is
            GDP-beta-L-fucose. There are two alternate pathways for the
            biosynthesis of GDP-fucose; the major pathway converts
            GDP-alpha-D-mannose to GDP-beta-L-fucose. The protein encoded by
            this gene participates in an alternate pathway that is present in
            certain mammalian tissues, such as liver and kidney, and appears to
            function as a salvage pathway to reutilize L-fucose arising from
            the turnover of glycoproteins and glycolipids. This pathway
            involves the phosphorylation of L-fucose to form
            beta-L-fucose-1-phosphate, and then condensation of the
            beta-L-fucose-1-phosphate with GTP by fucose-1-phosphate
            guanylyltransferase to form GDP-beta-L-fucose. Alternative splicing
            results in multiple transcript variants. Read-through transcription
            also exists between this gene and the neighboring downstream TNNI3
            interacting kinase (TNNI3K) gene. [provided by RefSeq, Dec 2010].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF017445.1, BC032308.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370898.9/ ENSP00000359935.4
            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
            1-119               AC098692.3         33854-33972
            120-287             AC098692.3         35276-35443
            288-380             AC098692.3         36930-37022
            381-4692            AC098692.3         40003-44314
FEATURES             Location/Qualifiers
     source          1..4692
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.1"
     gene            1..4692
                     /gene="FPGT"
                     /gene_synonym="GFPP"
                     /note="fucose-1-phosphate guanylyltransferase"
                     /db_xref="GeneID:8790"
                     /db_xref="HGNC:HGNC:3825"
                     /db_xref="MIM:603609"
     exon            1..119
                     /gene="FPGT"
                     /gene_synonym="GFPP"
                     /inference="alignment:Splign:2.1.0"
     CDS             38..1822
                     /gene="FPGT"
                     /gene_synonym="GFPP"
                     /EC_number="2.7.7.30"
                     /note="isoform 1 is encoded by transcript variant 1;
                     GDP-beta-L-fucose pyrophosphorylase; fucose-1-phosphate
                     guanyltransferase; GDP-L-fucose diphosphorylase"
                     /codon_start=1
                     /product="fucose-1-phosphate guanylyltransferase isoform
                     1"
                     /protein_id="NP_003829.4"
                     /db_xref="CCDS:CCDS663.3"
                     /db_xref="GeneID:8790"
                     /db_xref="HGNC:HGNC:3825"
                     /db_xref="MIM:603609"
                     /translation="MAAARDPPEVSLREATQRKLRRFSELRGKLVARGEFWDIVAITA
                     ADEKQELAYNQQLSEKLKRKELPLGVQYHVFVDPAGAKIGNGGSTLCALQCLEKLYGD
                     KWNSFTILLIHSGGYSQRLPNASALGKIFTALPLGNPIYQMLELKLAMYIDFPLNMNP
                     GILVTCADDIELYSIGEFEFIRFDKPGFTALAHPSSLTIGTTHGVFVLDPFDDLKHRD
                     LEYRSCHRFLHKPSIEKMYQFNAVCRPGNFCQQDFAGGDIADLKLDSDYVYTDSLFYM
                     DHKSAKMLLAFYEKIGTLSCEIDAYGDFLQALGPGATVEYTRNTSNVIKEESELVEMR
                     QRIFHLLKGTSLNVVVLNNSKFYHIGTTEEYLFYFTSDNSLKSELGLQSITFSIFPDI
                     PECSGKTSCIIQSILDSRCSVAPGSVVEYSRLGPDVSVGENCIISGSYILTKAALPAH
                     SFVCSLSLKMNRCLKYATMAFGVQDNLKKSVKTLSDIKLLQFFGVCFLSCLDVWNLKV
                     TEELFSGNKTCLSLWTARIFPVCSSLSDSVITSLKMLNAVKNKSAFSLNSYKLLSIEE
                     MLIYKDVEDMITYREQIFLEISLKSSLM"
     exon            120..287
                     /gene="FPGT"
                     /gene_synonym="GFPP"
                     /inference="alignment:Splign:2.1.0"
     exon            288..380
                     /gene="FPGT"
                     /gene_synonym="GFPP"
                     /inference="alignment:Splign:2.1.0"
     exon            381..4692
                     /gene="FPGT"
                     /gene_synonym="GFPP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3196..3201
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FPGT"
                     /gene_synonym="GFPP"
                     /note="hexamer: AATAAA"
     polyA_site      3231
                     /gene="FPGT"
                     /gene_synonym="GFPP"
                     /note="major polyA site"
     regulatory      4672..4677
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FPGT"
                     /gene_synonym="GFPP"
                     /note="hexamer: AATAAA"
     polyA_site      4692
                     /gene="FPGT"
                     /gene_synonym="GFPP"
                     /note="major polyA site"
ORIGIN      
        1 gcgtgctgtg cggcgcggtc tcagggaagg tggggctatg gcagctgcta gggaccctcc
       61 ggaagtatcg ctgcgagaag ccacccagcg aaaattgcgg aggttttccg agctaagagg
      121 caaacttgta gcacgtggag aattctggga catagttgca ataacagcgg ctgatgaaaa
      181 acaggaactt gcttacaacc aacagctgtc agaaaagctg aaaagaaagg agttacccct
      241 tggagttcaa tatcacgttt ttgtggatcc tgctggagcc aaaattggaa atggaggatc
      301 aacactttgt gcccttcaat gtttggaaaa gctatatgga gataaatgga attcttttac
      361 catcttatta attcactctg gtggctacag tcaacgactt ccaaatgcaa gtgctctggg
      421 aaaaattttc actgctttac ctcttggtaa ccccatttat cagatgctag aattaaaact
      481 agccatgtac attgatttcc ccttaaatat gaatcctgga attctggtta cctgtgcaga
      541 tgatattgaa ctttatagta ttggagaatt tgagtttatt aggtttgaca aacctggctt
      601 tactgcttta gctcatcctt ctagtttgac gataggtacc acacatggag tatttgtctt
      661 agatcctttt gatgatttaa aacatagaga ccttgaatac aggtcttgcc atcgtttcct
      721 tcataagccc agcatagaaa agatgtatca gtttaatgct gtgtgtagac ctggaaattt
      781 ttgtcaacag gactttgctg ggggtgacat tgccgatctt aaattagact ctgactatgt
      841 ctacacagat agcctatttt atatggatca taaatcagca aaaatgttac ttgcttttta
      901 tgaaaaaata ggcacactga gctgtgaaat agatgcctat ggtgactttc tgcaggcttt
      961 gggacctgga gcaactgtgg agtacaccag aaacacatca aatgtcatta aagaagagtc
     1021 agagttggta gaaatgaggc agagaatatt tcatcttctt aaaggaacat cactaaatgt
     1081 tgttgttctt aataactcca aattttatca cattggaaca accgaagaat atttgtttta
     1141 ctttacctca gataacagtt taaagtcaga gctcggctta cagtccataa cttttagtat
     1201 ctttccagat ataccagaat gctctggcaa aacatcctgt atcattcaaa gcatactgga
     1261 ttcaagatgt tctgtggcac ctggctcagt tgtggagtat tccagattgg ggcctgatgt
     1321 ttcagttggg gaaaactgca ttattagtgg ttcttacatc ctaacaaaag ctgccctccc
     1381 cgcacattct tttgtatgtt ccttaagctt aaagatgaat agatgcttaa agtatgcaac
     1441 tatggcattt ggagtgcaag acaacttgaa aaagagtgtg aaaacattgt cagatataaa
     1501 gttacttcaa ttctttggag tctgtttcct gtcatgctta gatgtttgga atcttaaagt
     1561 tacagaggaa ctgttctctg gtaacaagac atgtctgagt ttgtggactg cacgcatttt
     1621 cccagtttgt tcttctttga gtgactcagt tataacatcc ctaaagatgt taaatgctgt
     1681 taagaacaag tcagcattca gcctgaatag ctataagttg ctgtccattg aagaaatgct
     1741 tatctacaaa gatgtagaag atatgataac ttacagggaa caaatttttc tagaaatcag
     1801 tttaaaaagc agtttgatgt agagatattt taaatattgt acactttgcc tttttgagta
     1861 acattccaga gataggtatt ttttgtaggc tgtttcactg aactcagtta atgaaaactg
     1921 tattaacata attgttgtag cataatatta atagtgcaaa agtacatata agtcattttg
     1981 atgaaaaata ttccaagact aagttgagaa aagagatact attttggatg tgtatcagta
     2041 tttttgtttt taataatgat tgatttgtgg agcattgttt tttcacataa ttagttttaa
     2101 aggtaatttt ctaagcatac ctttggaatt tttccatctt ttttgaggct tttggtccag
     2161 tgaagttcta agtattcact ggcacttctc tcctcaactg taattctatt tttaataata
     2221 aaaatggcat actgtagggt cttcagagta gtgtaggaat actgtagaaa tactttttca
     2281 gaaacgaatc catagctgac aaattcactc agtgcccaat atattgtgat tattttcgtt
     2341 gataaagaac tagatacaaa gacctctgaa attgatgata aaatttgtat ctcattaatt
     2401 ttatcaaaat gaaactaaaa gtacatatgt attatacact tgaacatgtg tttgtatatc
     2461 tttaaaattt tcctttatgt tccattccat aggaaaacac acatatgcac acaaaactca
     2521 gttatctgtg gggaaagtgg tagtaataat tgagattcat caataatcat ataatttcac
     2581 tatagacatt acttgcatta tctcctatca gtccttctaa caaaacttca attaccagat
     2641 gaactgactt tagttttcat cttatttttt gtccacatgc tggtgatgct gagaaacaat
     2701 aattggccca aatgcagaca tcaagaagca ggcaggaaaa tggaaaaact gagataatac
     2761 acaggtgata aacagtttcg agaaaataaa aattggctag aatctcaagt tatgtgtttc
     2821 tatattggta taagcatata agtgaaaagt cttataagtg taatagagaa aagatttgtc
     2881 agtgtgtttt tttaaatgaa ataactagtc tgtgctactt tatgtcaata taaaaattgg
     2941 taaactagaa gtaacttgtc cacaaccctc agttatgata cttatgtgcg tgtttttttt
     3001 tccaaagttt ttcccaagga gaagatacaa atatatggta gctattgttt aaaaatgatt
     3061 gatttacttg cagatttttc agaggatgtt atgtctttgt cattcattaa atgttcaaaa
     3121 ttgtagtttt accaaatctg aagtgccatc agttataaga atcaccatta ttttatgttc
     3181 cattaagaaa aacacaataa aacatgacac tgcttttttt gttacttgaa attttcatat
     3241 ttattggaga gctcttttag atgtttttaa atacagattt ttatttaacc ctcttgcata
     3301 tacatataaa ataacaaaaa aataaaatat tgagatatca tcaagaaatt tctacagctt
     3361 cacattcaaa ctcttcagca ctttcagagc tattgatatg catatgtcca cctagtacca
     3421 tcttctctgc tttcagaatt attggtaagg ctgcatttcc tgagtgctct accacactta
     3481 tgtctggatt ttttttaccc agctacagac ccacactcct gcaagatttg atacccttct
     3541 atttggcaaa actcagtttc acttttcttt cagtttaatc acaggtcctt agaagatcgg
     3601 acctgtgatt ctattcaaag tcagaaagag atttctcaca aattgacgtc atattaacat
     3661 gtcaatatga aaattaattg tttggtaaac cagaagtgac ctgtctgaag ccctcaattg
     3721 tggtatttgt gtgtttgttt tttctttttc aagattcttt ttaaagaaaa tatatggtag
     3781 ctgttgttta acatttatct acttacagag cgttcagagg atgttatatg tttattaagt
     3841 gctcaatact gtattttaac ctaatctgaa ttttaatcat aatcctgtac aatgcatgga
     3901 ttctggttgc tttgaaatgg ttctgttcaa aggacttatc aatgtctctt gctttgagat
     3961 gtattgcttg gtgtgtagta gcacaaacgt accaccaata atgtacctaa ttcaactgaa
     4021 gtgacagtca tatacgcaga tatgaccaag ttcacatgtg agcaagtaac aactccatga
     4081 ctattgctgc ctggctaata gctattatac tatcatttgt aaggcacatt ctgttttctg
     4141 gggtgtcgaa atgtggataa aaaaagatga attaggaatg attctaacct aagtatgtgt
     4201 tttaataaaa ggatctaggc aaaaaaaaaa aaagtaagtc actcctaaat ttaatccctg
     4261 aataatgcag tgtacatgat gatagaggag aagtgtgttt ttgataagaa gtgactaaat
     4321 tttgtgacaa tcttaatttt ttaggctttt catttagtct tccaataaag ataatttttt
     4381 tctgagtttt atcagcagta gaaaaataag acctacatgg ataagtttga aattaaacat
     4441 tttgtctcat tttataattt ttatttttat gaaatcatgg cacttacatc atatactcag
     4501 gtgtgtaaaa gcctgctatt tgtaactata atccataaac ttattgatga tttaataact
     4561 atcaacaagg gcatgggaaa aattcaacat ttgataataa tcttttacct taggcattta
     4621 ttctctaagc aaagcagaaa taaaggatat gtatcagtgt atactgattg aaataaagct
     4681 ttaaaaatcc aa
//
