LOCUS       NM_003313               1345 bp    mRNA    linear   PRI 28-APR-2024
DEFINITION  Homo sapiens GDP-L-fucose synthase (GFUS), transcript variant 2,
            mRNA.
ACCESSION   NM_003313
VERSION     NM_003313.4
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   Xu,E.W., Yang,J. and Zhang,L.
  TITLE     [TSTA3 gene promotes esophageal cancer invasion through MAPK-ERK
            pathway and downstream MMP2/9]
  JOURNAL   Zhonghua Bing Li Xue Za Zhi 51 (1), 50-52 (2022)
   PUBMED   34979755
  REMARK    GeneRIF: [TSTA3 gene promotes esophageal cancer invasion through
            MAPK-ERK pathway and downstream MMP2/9].
REFERENCE   2  (bases 1 to 1345)
  AUTHORS   Leal Quirino,M.W., Albuquerque,A.P.B., de Souza,M.F.D.,
            Filho,A.F.D.S., Martins,M.R., Pitta,M.G.D.R., Pereira,M.C. and de
            Melo,M.J.B.
  TITLE     FUCA2 and TSTA3 expression in gastric cancer: candidate biomarkers
            of malignant transformation
  JOURNAL   Folia Histochem Cytobiol 60 (4), 335-343 (2022)
   PUBMED   36583336
  REMARK    GeneRIF: FUCA2 and TSTA3 expression in gastric cancer: candidate
            biomarkers of malignant transformation.
REFERENCE   3  (bases 1 to 1345)
  AUTHORS   Zhang,L., Gao,Y., Zhang,X., Guo,M., Yang,J., Cui,H., Kong,P.,
            Niu,X., Bi,Y., Xu,J., Yan,T., Ma,Y., Yang,J., Qian,Y., Wang,F.,
            Li,H., Liu,F., Cheng,X. and Cui,Y.
  TITLE     TSTA3 facilitates esophageal squamous cell carcinoma progression
            through regulating fucosylation of LAMP2 and ERBB2
  JOURNAL   Theranostics 10 (24), 11339-11358 (2020)
   PUBMED   33042286
  REMARK    GeneRIF: TSTA3 facilitates esophageal squamous cell carcinoma
            progression through regulating fucosylation of LAMP2 and ERBB2.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1345)
  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   5  (bases 1 to 1345)
  AUTHORS   Yang,J., Kong,P., Yang,J., Jia,Z., Hu,X., Wang,Z., Cui,H., Bi,Y.,
            Qian,Y., Li,H., Wang,F., Yang,B., Yan,T., Ma,Y., Zhang,L.,
            Cheng,C., Song,B., Li,Y., Xu,E., Liu,H., Gao,W., Wang,J., Liu,Y.,
            Zhai,Y., Chang,L., Wang,Y., Zhang,Y., Shi,R., Liu,J., Wang,Q.,
            Cheng,X. and Cui,Y.
  TITLE     High TSTA3 Expression as a Candidate Biomarker for Poor Prognosis
            of Patients With ESCC
  JOURNAL   Technol Cancer Res Treat 17, 1533033818781405 (2018)
   PUBMED   29950151
  REMARK    GeneRIF: tissue-specific transplantation antigen P35B may serve as
            a novel biomarker for prognosis of patients with esophageal
            squamous cell carcinoma.
REFERENCE   6  (bases 1 to 1345)
  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   7  (bases 1 to 1345)
  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
REFERENCE   8  (bases 1 to 1345)
  AUTHORS   Tonetti,M., Sturla,L., Bisso,A., Benatti,U. and De Flora,A.
  TITLE     Synthesis of GDP-L-fucose by the human FX protein
  JOURNAL   J Biol Chem 271 (44), 27274-27279 (1996)
   PUBMED   8910301
REFERENCE   9  (bases 1 to 1345)
  AUTHORS   Camardella,L., Carratore,V., Ciardiello,M.A., Damonte,G.,
            Benatti,U. and De Flora,A.
  TITLE     Primary structure of human erythrocyte nicotinamide adenine
            dinucleotide phosphate (NADP[H])-binding protein FX: identification
            with the mouse tum- transplantation antigen P35B
  JOURNAL   Blood 85 (1), 264-267 (1995)
   PUBMED   7803801
REFERENCE   10 (bases 1 to 1345)
  AUTHORS   Dyson,P.J., de Smet,C., Knight,A.M., Simon-Chazottes,D.,
            Guenet,J.L. and Boon,T.
  TITLE     Mapping of the genes encoding tum- transplantation antigens P91A,
            P35B, and P198
  JOURNAL   Immunogenetics 35 (5), 316-323 (1992)
   PUBMED   1348494
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB132195.1, BC093061.1 and
            BF223661.1.
            
            On Nov 23, 2018 this sequence version replaced NM_003313.3.
            
            Summary: Tissue specific transplantation antigen P35B is a
            NADP(H)-binding protein. It catalyze the two-step epimerase and the
            reductase reactions in GDP-D-mannose metabolism, converting
            GDP-4-keto-6-D-deoxymannose to GDP-L-fucose. GDP-L-fucose is the
            substrate of several fucosyltransferases involved in the expression
            of many glycoconjugates, including blood group ABH antigens and
            developmental adhesion antigens. Mutations in this gene may cause
            leukocyte adhesion deficiency, type II. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and uses a downstream translation
            start site compared to variant 1. The encoded isoform (2) has a
            shorter N-terminus compared to 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 :: HM005668.1, SRR5189658.121101.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000425753.7/ ENSP00000398803.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-10                CB132195.1         15-24
            11-1340             BC093061.1         1-1330
            1341-1345           BF223661.1         6-10                c
FEATURES             Location/Qualifiers
     source          1..1345
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     gene            1..1345
                     /gene="GFUS"
                     /gene_synonym="FX; P35B; SDR4E1; TSTA3"
                     /note="GDP-L-fucose synthase"
                     /db_xref="GeneID:7264"
                     /db_xref="HGNC:HGNC:12390"
                     /db_xref="MIM:137020"
     exon            1..76
                     /gene="GFUS"
                     /gene_synonym="FX; P35B; SDR4E1; TSTA3"
                     /inference="alignment:Splign:2.1.0"
     exon            77..233
                     /gene="GFUS"
                     /gene_synonym="FX; P35B; SDR4E1; TSTA3"
                     /inference="alignment:Splign:2.1.0"
     CDS             88..1053
                     /gene="GFUS"
                     /gene_synonym="FX; P35B; SDR4E1; TSTA3"
                     /EC_number="1.1.1.271"
                     /note="isoform 2 is encoded by transcript variant 2;
                     GDP-4-keto-6-deoxy-D-mannose epimerase-reductase; 3-5
                     epimerase/4-reductase; short chain dehydrogenase/reductase
                     family 4E, member 1; tissue specific transplantation
                     antigen P35B; tissue specific transplantation antigen 3;
                     red cell NADP(H)-binding protein;
                     GDP-4-keto-6-deoxy-D-mannose-3,5-epimerase-4-reductase;
                     testis tissue sperm-binding protein Li 45a"
                     /codon_start=1
                     /product="GDP-L-fucose synthase isoform 2"
                     /protein_id="NP_003304.1"
                     /db_xref="CCDS:CCDS6408.1"
                     /db_xref="GeneID:7264"
                     /db_xref="HGNC:HGNC:12390"
                     /db_xref="MIM:137020"
                     /translation="MGEPQGSMRILVTGGSGLVGKAIQKVVADGAGLPGEDWVFVSSK
                     DADLTDTAQTRALFEKVQPTHVIHLAAMVGGLFRNIKYNLDFWRKNVHMNDNVLHSAF
                     EVGARKVVSCLSTCIFPDKTTYPIDETMIHNGPPHNSNFGYSYAKRMIDVQNRAYFQQ
                     YGCTFTAVIPTNVFGPHDNFNIEDGHVLPGLIHKVHLAKSSGSALTVWGTGNPRRQFI
                     YSLDLAQLFIWVLREYNEVEPIILSVGEEDEVSIKEAAEAVVEAMDFHGEVTFDTTKS
                     DGQFKKTASNSKLRTYLPDFRFTPFKQAVKETCAWFTDNYEQARK"
     exon            234..348
                     /gene="GFUS"
                     /gene_synonym="FX; P35B; SDR4E1; TSTA3"
                     /inference="alignment:Splign:2.1.0"
     exon            349..477
                     /gene="GFUS"
                     /gene_synonym="FX; P35B; SDR4E1; TSTA3"
                     /inference="alignment:Splign:2.1.0"
     exon            478..551
                     /gene="GFUS"
                     /gene_synonym="FX; P35B; SDR4E1; TSTA3"
                     /inference="alignment:Splign:2.1.0"
     exon            552..685
                     /gene="GFUS"
                     /gene_synonym="FX; P35B; SDR4E1; TSTA3"
                     /inference="alignment:Splign:2.1.0"
     exon            686..750
                     /gene="GFUS"
                     /gene_synonym="FX; P35B; SDR4E1; TSTA3"
                     /inference="alignment:Splign:2.1.0"
     exon            751..817
                     /gene="GFUS"
                     /gene_synonym="FX; P35B; SDR4E1; TSTA3"
                     /inference="alignment:Splign:2.1.0"
     exon            818..897
                     /gene="GFUS"
                     /gene_synonym="FX; P35B; SDR4E1; TSTA3"
                     /inference="alignment:Splign:2.1.0"
     exon            898..997
                     /gene="GFUS"
                     /gene_synonym="FX; P35B; SDR4E1; TSTA3"
                     /inference="alignment:Splign:2.1.0"
     exon            998..1345
                     /gene="GFUS"
                     /gene_synonym="FX; P35B; SDR4E1; TSTA3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1324..1329
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GFUS"
                     /gene_synonym="FX; P35B; SDR4E1; TSTA3"
                     /note="hexamer: AATAAA"
     polyA_site      1345
                     /gene="GFUS"
                     /gene_synonym="FX; P35B; SDR4E1; TSTA3"
                     /note="major polyA site"
ORIGIN      
        1 acctggctcc gcgggcagcc ggagcgcacc cggccggaag ccgctgtcgg ggagccggcg
       61 gtggggctgg acgcaggtgc aactgacatg ggtgaacccc agggatccat gcggattcta
      121 gtgacagggg gctctgggct ggtaggcaaa gccatccaga aggtggtagc agatggagct
      181 ggacttcctg gagaggactg ggtgtttgtc tcctctaaag acgccgatct cacggataca
      241 gcacagaccc gcgccctgtt tgagaaggtc caacccacac acgtcatcca tcttgctgca
      301 atggtggggg gcctgttccg gaatatcaaa tacaatttgg acttctggag gaaaaacgtg
      361 cacatgaacg acaacgtcct gcactcggcc tttgaggtgg gcgcccgcaa ggtggtgtcc
      421 tgcctgtcca cctgtatctt ccctgacaag acgacctacc cgatagatga gaccatgatc
      481 cacaatgggc ctccccacaa cagcaatttt gggtactcgt atgccaagag gatgatcgac
      541 gtgcagaaca gggcctactt ccagcagtac ggctgcacct tcaccgctgt catccccacc
      601 aacgtcttcg ggccccacga caacttcaac atcgaggatg gccacgtgct gcctggcctc
      661 atccacaagg tgcacctggc caagagcagc ggctcggccc tgacggtgtg gggtacaggg
      721 aatccgcgga ggcagttcat atactcgctg gacctggccc agctctttat ctgggtcctg
      781 cgggagtaca atgaagtgga gcccatcatc ctctccgtgg gcgaggaaga tgaggtctcc
      841 atcaaggagg cagccgaggc ggtggtggag gccatggact tccatgggga agtcaccttt
      901 gatacaacca agtcggatgg gcagtttaag aagacagcca gtaacagcaa gctgaggacc
      961 tacctgcccg acttccggtt cacacccttc aagcaggcgg tgaaggagac ctgtgcttgg
     1021 ttcactgaca actacgagca ggcccggaag tgaagctgga agacaggatc aggtgccagc
     1081 ggaccatcgg ctggcagagc ccagcggcca ccacccgtca accctgccag gagctgaggg
     1141 caccacccag caacctgggc ctgcattcca tccgctctgc agccccaagc atctttccag
     1201 tggggccccc attcacgttg gtcctcaggg aaaccagggt cccgggcagg cccggcgctt
     1261 tgctccccac accagccccc tgcgcgtgtc cactctgatc ctgcatccca ctccctggga
     1321 gccaataaag tgcattttca caggc
//
