LOCUS       NM_001008216            1516 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens UDP-galactose-4-epimerase (GALE), transcript variant
            2, mRNA.
ACCESSION   NM_001008216
VERSION     NM_001008216.2
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 1516)
  AUTHORS   Marin-Quilez,A., Di Buduo,C.A., Benito,R., Balduini,A., Rivera,J.
            and Bastida,J.M.
  TITLE     GALE variants associated with syndromic manifestations,
            macrothrombocytopenia, bleeding, and platelet dysfunction
  JOURNAL   Platelets 34 (1), 2176699 (2023)
   PUBMED   36846897
  REMARK    GeneRIF: GALE variants associated with syndromic manifestations,
            macrothrombocytopenia, bleeding, and platelet dysfunction.
REFERENCE   2  (bases 1 to 1516)
  AUTHORS   Marin-Quilez,A., Di Buduo,C.A., Diaz-Ajenjo,L., Abbonante,V.,
            Vuelta,E., Soprano,P.M., Miguel-Garcia,C., Santos-Minguez,S.,
            Serramito-Gomez,I., Ruiz-Sala,P., Penarrubia,M.J., Pardal,E.,
            Hernandez-Rivas,J.M., Gonzalez-Porras,J.R., Garcia-Tunon,I.,
            Benito,R., Rivera,J., Balduini,A. and Bastida,J.M.
  TITLE     Novel variants in GALE cause syndromic macrothrombocytopenia by
            disrupting glycosylation and thrombopoiesis
  JOURNAL   Blood 141 (4), 406-421 (2023)
   PUBMED   36395340
  REMARK    GeneRIF: Novel variants in GALE cause syndromic
            macrothrombocytopenia by disrupting glycosylation and
            thrombopoiesis.
REFERENCE   3  (bases 1 to 1516)
  AUTHORS   Markovitz,R., Owen,N., Satter,L.F., Kirk,S., Mahoney,D.H.,
            Bertuch,A.A. and Scaglia,F.
  TITLE     Expansion of the clinical phenotype of GALE deficiency
  JOURNAL   Am J Med Genet A 185 (10), 3118-3121 (2021)
   PUBMED   34159722
  REMARK    GeneRIF: Expansion of the clinical phenotype of GALE deficiency.
REFERENCE   4  (bases 1 to 1516)
  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 1516)
  AUTHORS   de Souza,M.F.D., da Silva Filho,A.F., de Barros Albuquerque,A.P.,
            Quirino,M.W.L., de Souza Albuquerque,M.S., Cordeiro,M.F.,
            Martins,M.R., da Rocha Pitta,I., Lucena-Araujo,A.R., da Rocha
            Pitta,M.G. and de Melo Rego,M.J.B.
  TITLE     Overexpression of UDP-Glucose 4-Epimerase Is Associated with
            Differentiation Grade of Gastric Cancer
  JOURNAL   Dis Markers 2019, 6325326 (2019)
   PUBMED   31827638
  REMARK    GeneRIF: High GALE expression is associated with differentiation
            Grade of Gastric Cancer.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1516)
  AUTHORS   Fridovich-Keil,J., Bean,L., He,M. and Schroer,R.
  TITLE     Epimerase Deficiency Galactosemia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   21290786
REFERENCE   7  (bases 1 to 1516)
  AUTHORS   Schulpis,K.H., Papaconstantinou,E.D., Koidou,A., Michelakakis,H.,
            Tzamouranis,J., Patsouras,A. and Shin,Y.
  TITLE     UDP galactose-4-epimerase deficiency in a 5.5-year-old girl with
            unilateral cataract
  JOURNAL   J Inherit Metab Dis 16 (5), 903-904 (1993)
   PUBMED   8295413
REFERENCE   8  (bases 1 to 1516)
  AUTHORS   Henderson,M.J., Holton,J.B. and MacFaul,R.
  TITLE     Further observations in a case of uridine diphosphate
            galactose-4-epimerase deficiency with a severe clinical
            presentation
  JOURNAL   J Inherit Metab Dis 6 (1), 17-20 (1983)
   PUBMED   6408303
REFERENCE   9  (bases 1 to 1516)
  AUTHORS   Holton,J.B., Gillett,M.G., MacFaul,R. and Young,R.
  TITLE     Galactosaemia: a new severe variant due to uridine diphosphate
            galactose-4-epimerase deficiency
  JOURNAL   Arch Dis Child 56 (11), 885-887 (1981)
   PUBMED   7305435
REFERENCE   10 (bases 1 to 1516)
  AUTHORS   Benn,P.A., Shows,T.B., D'Ancona,G.G., Croce,C.M., Orkwiszewski,K.G.
            and Mellman,W.J.
  TITLE     Assignment of a gene for uridine diphosphate galactose-4-epimerase
            to human chromosome 1 by somatic cell hybridization, with evidence
            for a regional assignment to 1pter yields 1p21
  JOURNAL   Cytogenet Cell Genet 24 (3), 138-142 (1979)
   PUBMED   477411
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL530475.3 and BC050685.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001008216.1.
            
            Summary: This gene encodes UDP-galactose-4-epimerase which
            catalyzes two distinct but analogous reactions: the epimerization
            of UDP-glucose to UDP-galactose, and the epimerization of
            UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The
            bifunctional nature of the enzyme has the important metabolic
            consequence that mutant cells (or individuals) are dependent not
            only on exogenous galactose, but also on exogenous
            N-acetylgalactosamine as a necessary precursor for the synthesis of
            glycoproteins and glycolipids. Mutations in this gene result in
            epimerase-deficiency galactosemia, also referred to as galactosemia
            type 3, a disease characterized by liver damage, early-onset
            cataracts, deafness and cognitive disability, with symptoms ranging
            from mild ('peripheral' form) to severe ('generalized' form).
            Multiple alternatively spliced transcripts encoding the same
            protein have been identified. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1, 2 and 3 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 :: SRR3476690.346090.1,
                                           SRR5189658.83711.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154405 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000617979.5/ ENSP00000483375.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-26                AL530475.3         51-76
            27-1516             BC050685.2         1-1490
FEATURES             Location/Qualifiers
     source          1..1516
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.11"
     gene            1..1516
                     /gene="GALE"
                     /gene_synonym="SDR1E1; THC13"
                     /note="UDP-galactose-4-epimerase"
                     /db_xref="GeneID:2582"
                     /db_xref="HGNC:HGNC:4116"
                     /db_xref="MIM:606953"
     exon            1..43
                     /gene="GALE"
                     /gene_synonym="SDR1E1; THC13"
                     /inference="alignment:Splign:2.1.0"
     exon            44..114
                     /gene="GALE"
                     /gene_synonym="SDR1E1; THC13"
                     /inference="alignment:Splign:2.1.0"
     exon            115..240
                     /gene="GALE"
                     /gene_synonym="SDR1E1; THC13"
                     /inference="alignment:Splign:2.1.0"
     CDS             120..1166
                     /gene="GALE"
                     /gene_synonym="SDR1E1; THC13"
                     /EC_number="5.1.3.2"
                     /EC_number="5.1.3.7"
                     /note="galactowaldenase; UDP-GalNAc 4-epimerase;
                     UDP-GlcNAc 4-epimerase; UDP-N-acetylglucosamine
                     4-epimerase; UDP-N-acetylgalactosamine 4-epimerase; UDP
                     galactose-4'-epimerase; galactose-4-epimerase, UDP-; short
                     chain dehydrogenase/reductase family 1E, member 1;
                     epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="UDP-glucose 4-epimerase"
                     /protein_id="NP_001008217.1"
                     /db_xref="CCDS:CCDS242.1"
                     /db_xref="GeneID:2582"
                     /db_xref="HGNC:HGNC:4116"
                     /db_xref="MIM:606953"
                     /translation="MAEKVLVTGGAGYIGSHTVLELLEAGYLPVVIDNFHNAFRGGGS
                     LPESLRRVQELTGRSVEFEEMDILDQGALQRLFKKYSFMAVIHFAGLKAVGESVQKPL
                     DYYRVNLTGTIQLLEIMKAHGVKNLVFSSSATVYGNPQYLPLDEAHPTGGCTNPYGKS
                     KFFIEEMIRDLCQADKTWNAVLLRYFNPTGAHASGCIGEDPQGIPNNLMPYVSQVAIG
                     RREALNVFGNDYDTEDGTGVRDYIHVVDLAKGHIAALRKLKEQCGCRIYNLGTGTGYS
                     VLQMVQAMEKASGKKIPYKVVARREGDVAACYANPSLAQEELGWTAALGLDRMCEDLW
                     RWQKQNPSGFGTQA"
     exon            241..356
                     /gene="GALE"
                     /gene_synonym="SDR1E1; THC13"
                     /inference="alignment:Splign:2.1.0"
     exon            357..470
                     /gene="GALE"
                     /gene_synonym="SDR1E1; THC13"
                     /inference="alignment:Splign:2.1.0"
     exon            471..647
                     /gene="GALE"
                     /gene_synonym="SDR1E1; THC13"
                     /inference="alignment:Splign:2.1.0"
     exon            648..761
                     /gene="GALE"
                     /gene_synonym="SDR1E1; THC13"
                     /inference="alignment:Splign:2.1.0"
     exon            762..828
                     /gene="GALE"
                     /gene_synonym="SDR1E1; THC13"
                     /inference="alignment:Splign:2.1.0"
     exon            829..914
                     /gene="GALE"
                     /gene_synonym="SDR1E1; THC13"
                     /inference="alignment:Splign:2.1.0"
     exon            915..992
                     /gene="GALE"
                     /gene_synonym="SDR1E1; THC13"
                     /inference="alignment:Splign:2.1.0"
     exon            993..1107
                     /gene="GALE"
                     /gene_synonym="SDR1E1; THC13"
                     /inference="alignment:Splign:2.1.0"
     exon            1108..1516
                     /gene="GALE"
                     /gene_synonym="SDR1E1; THC13"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1490..1495
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GALE"
                     /gene_synonym="SDR1E1; THC13"
                     /note="hexamer: AATAAA"
     polyA_site      1516
                     /gene="GALE"
                     /gene_synonym="SDR1E1; THC13"
                     /note="major polyA site"
ORIGIN      
        1 gcggtgcctc tgcagcaagc gtggggcgcg ggaacccgag caggactctc cagtcctcag
       61 tcaccttgga caaagaagtg tggatcctca gattccatct tttccaactc caaggtgcca
      121 tggcagagaa ggtgctggta acaggtgggg ctggctacat tggcagccac acggtgctgg
      181 agctgctgga ggctggctac ttgcctgtgg tcatcgataa cttccataat gccttccgtg
      241 gagggggctc cctgcctgag agcctgcggc gggtccagga gctgacaggc cgctctgtgg
      301 agtttgagga gatggacatt ttggaccagg gagccctaca gcgtctcttc aaaaagtaca
      361 gctttatggc ggtcatccac tttgcggggc tcaaggccgt gggcgagtcg gtgcagaagc
      421 ctctggatta ttacagagtt aacctgaccg ggaccatcca gcttctggag atcatgaagg
      481 cccacggggt gaagaacctg gtgttcagca gctcagccac tgtgtacggg aacccccagt
      541 acctgcccct tgatgaggcc caccccacgg gtggttgtac caacccttac ggcaagtcca
      601 agttcttcat cgaggaaatg atccgggacc tgtgccaggc agacaagact tggaacgcag
      661 tgctgctgcg ctatttcaac cccacaggtg cccatgcctc tggctgcatt ggtgaggatc
      721 cccagggcat acccaacaac ctcatgcctt atgtctccca ggtggcgatc gggcgacggg
      781 aggccctgaa tgtctttggc aatgactatg acacagagga tggcacaggt gtccgggatt
      841 acatccatgt cgtggatctg gccaagggcc acattgcagc cttaaggaag ctgaaagaac
      901 agtgtggctg ccggatctac aacctgggca cgggcacagg ctattcagtg ctgcagatgg
      961 tccaggctat ggagaaggcc tctgggaaga agatcccgta caaggtggtg gcacggcggg
     1021 aaggtgatgt ggcagcctgt tacgccaacc ccagcctggc ccaagaggag ctggggtgga
     1081 cagcagcctt agggctggac aggatgtgtg aggatctctg gcgctggcag aagcagaatc
     1141 cttcaggctt tggcacgcaa gcctgaggac cctcccctac caaggaccag gaaaagcagc
     1201 agctgcctgc tctccagcct ctggcaggaa ctcagggccc tggagctgct ggggccaagc
     1261 caaggcctcc cctacctcaa accccagctg ggcccgctta gcccaccagg catgaggcca
     1321 agggctccac tgaccaggag gccgaggtct ctaactctta tcttccacag ggtccaagag
     1381 ttcatcagga cccccaagag tgagtgaggg ggcaaggctc tggcacaaaa cctcctcctc
     1441 ccaggcactc atttatattg ctctgaaaga gctttccaaa gtatttaaaa ataaaaacaa
     1501 gttttcttac actggg
//
