LOCUS       NM_001369135            1884 bp    mRNA    linear   ROD 02-MAY-2024
DEFINITION  Mus musculus galactose-1-phosphate uridyl transferase (Galt),
            transcript variant 3, mRNA.
ACCESSION   NM_001369135
VERSION     NM_001369135.1
KEYWORDS    RefSeq.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 1884)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 1884)
  AUTHORS   Welsink-Karssies,M.M., Schrantee,A., Caan,M.W.A., Hollak,C.E.M.,
            Janssen,M.C.H., Oussoren,E., de Vries,M.C., Roosendaal,S.D.,
            Engelen,M. and Bosch,A.M.
  TITLE     Gray and white matter are both affected in classical galactosemia:
            An explorative study on the association between neuroimaging and
            clinical outcome
  JOURNAL   Mol Genet Metab 131 (4), 370-379 (2020)
   PUBMED   33199205
  REMARK    GeneRIF: Gray and white matter are both affected in classical
            galactosemia: An explorative study on the association between
            neuroimaging and clinical outcome.
REFERENCE   3  (bases 1 to 1884)
  AUTHORS   Balakrishnan,B., Siddiqi,A., Mella,J., Lupo,A., Li,E., Hollien,J.,
            Johnson,J. and Lai,K.
  TITLE     Salubrinal enhances eIF2alpha phosphorylation and improves
            fertility in a mouse model of Classic Galactosemia
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1865 (11), 165516 (2019)
   PUBMED   31362041
REFERENCE   4  (bases 1 to 1884)
  AUTHORS   Halperin,J., Devi,Y.S., Elizur,S., Stocco,C., Shehu,A.,
            Rebourcet,D., Unterman,T.G., Leslie,N.D., Le,J., Binart,N. and
            Gibori,G.
  TITLE     Prolactin signaling through the short form of its receptor
            represses forkhead transcription factor FOXO3 and its target gene
            galt causing a severe ovarian defect
  JOURNAL   Mol Endocrinol 22 (2), 513-522 (2008)
   PUBMED   17975019
  REMARK    GeneRIF: Data show that PRL signals through the short form of PRL
            receptor RL, and causes, iin the absence of RL, a severe ovarian
            pathology by repressing the expression of FOXO3 and that of its
            target gene Galt.
            Erratum:[Mol Endocrinol. 2008 Dec;22(12):2766]
REFERENCE   5  (bases 1 to 1884)
  AUTHORS   Wehrli,S., Reynolds,R. and Segal,S.
  TITLE     Evidence for function of UDP galactose pyrophosphorylase in mice
            with absent galactose-1-phosphate uridyltransferase
  JOURNAL   Mol Genet Metab 91 (2), 191-194 (2007)
   PUBMED   17433749
  REMARK    GeneRIF: The finding is consistent with the function of UDP
            galactose pyrophosphorylase as an alternate pathway of galactose
            metabolism.
REFERENCE   6  (bases 1 to 1884)
  AUTHORS   Leslie,N., Yager,C., Reynolds,R. and Segal,S.
  TITLE     UDP-galactose pyrophosphorylase in mice with galactose-1-phosphate
            uridyltransferase deficiency
  JOURNAL   Mol Genet Metab 85 (1), 21-27 (2005)
   PUBMED   15862277
  REMARK    GeneRIF: Effects of GALT deficiency and dietary galactose on
            UDP-glucose pyrophosphorylase and UDP-galactose pyrophosphorylase
            activity and uridine diphosphate glucose expression in liver of
            mice with homozygous deletion of the critical regions of galt.
REFERENCE   7  (bases 1 to 1884)
  AUTHORS   Leslie,N.D., Yager,K.L., McNamara,P.D. and Segal,S.
  TITLE     A mouse model of galactose-1-phosphate uridyl transferase
            deficiency
  JOURNAL   Biochem Mol Med 59 (1), 7-12 (1996)
   PUBMED   8902187
REFERENCE   8  (bases 1 to 1884)
  AUTHORS   Pilz,A., Fountain,J., Peters,J. and Abbott,C.
  TITLE     Linkage mapping of the Aldo-2, Pax-5, Ambp, and D4h9S3E loci on
            mouse chromosome 4 in the region of homology with human chromosome
            9
  JOURNAL   Genomics 18 (3), 705-708 (1993)
   PUBMED   7508415
REFERENCE   9  (bases 1 to 1884)
  AUTHORS   Nadeau,J.H.
  TITLE     Length of the chromosomal segment marked by galactose-1-phosphate
            uridyl transferase and soluble aconitase and conserved since
            divergence of lineages leading to mouse and man
  JOURNAL   Genet Res 52 (2), 141-144 (1988)
   PUBMED   2850257
REFERENCE   10 (bases 1 to 1884)
  AUTHORS   Nadeau,J.H. and Eicher,E.M.
  TITLE     Conserved linkage of soluble aconitase and galactose-1-phosphate
            uridyl transferase in mouse and man: assignment of these genes to
            mouse chromosome 4
  JOURNAL   Cytogenet Cell Genet 34 (4), 271-281 (1982)
   PUBMED   6297853
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL807796.17.
            
            Summary: The protein encoded by this gene is the second enzyme in
            the Leloir pathway, the metabolic pathway for D-galactose
            catabolism. It catalyzes the conversion of galactose-1-phosphate
            and uridine diphosphate-glucose to glucose-1-phosphate and uridine
            diphosphate galactose. Deficiency of this enzyme causes the genetic
            metabolic disorder galactosemia. Mice lacking this protein
            accumulate high levels of galactose and galactose-1 phosphate but
            are viable and fertile. This protein is negatively regulated
            through signaling by the polypeptide hormone prolactin,
            specifically via the short isoform of the prolactin receptor and
            the transcription factor Forkhead box O3. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Oct
            2014].
            
            Transcript Variant: This variant (3) encodes the longest isoform
            (3).
            
            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.
            
            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 :: SRR7345562.1002504.1,
                                           SRR13422589.31017.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-166               AL807796.17        112103-112268
            167-336             AL807796.17        112547-112716
            337-412             AL807796.17        112933-113008
            413-461             AL807796.17        113099-113147
            462-591             AL807796.17        113268-113397
            592-648             AL807796.17        113525-113581
            649-771             AL807796.17        113742-113864
            772-904             AL807796.17        114046-114178
            905-988             AL807796.17        114281-114364
            989-1143            AL807796.17        114670-114824
            1144-1884           AL807796.17        115089-115829
FEATURES             Location/Qualifiers
     source          1..1884
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="4"
                     /map="4 22.07 cM"
     gene            1..1884
                     /gene="Galt"
                     /note="galactose-1-phosphate uridyl transferase"
                     /db_xref="GeneID:14430"
                     /db_xref="MGI:MGI:95638"
     exon            1..166
                     /gene="Galt"
                     /inference="alignment:Splign:2.1.0"
     CDS             112..1224
                     /gene="Galt"
                     /EC_number="2.7.7.12"
                     /note="isoform 3 is encoded by transcript variant 3;
                     gal-1-P uridylyltransferase;
                     UDP-glucose--hexose-1-phosphate uridylyltransferase;
                     galactose-1-phosphate uridylyltransferase"
                     /codon_start=1
                     /product="galactose-1-phosphate uridylyltransferase
                     isoform 3"
                     /protein_id="NP_001356064.1"
                     /db_xref="GeneID:14430"
                     /db_xref="MGI:MGI:95638"
                     /translation="MAATFRASGNCWAAWTRYEHQHIRYNPLQDEWVLVSAHRMKRPW
                     QGQVEPQLLKTVPRHDPLNPLCPGATRANGEVNPHYDGTFLFDNDFPALQPDAPDPGP
                     SDHPLFRAEAARGVCKVMCFHPWSDVTLPLMSVPEIRAVIDAWASVTEELGAQYPWVQ
                     IFENKGAMMGCSNPHPHCQVWASSFLPDIAQREERSQQTYHSQHGKPLLLEYGHQELL
                     RKERLVLTSEHWIVLVPFWAVWPFQTLLLPRRHVRRLPELNPAERDDLASIMKKLLTK
                     YDNLFETSFPYSMGWHGAPTGLKTGATCDHWQLHAHYYPPLLRSATVRKFMVGYEMLA
                     QAQRDLTPEQAAERLRALPEVHYCLAQKDKETAAIA"
     exon            167..336
                     /gene="Galt"
                     /inference="alignment:Splign:2.1.0"
     exon            337..412
                     /gene="Galt"
                     /inference="alignment:Splign:2.1.0"
     exon            413..461
                     /gene="Galt"
                     /inference="alignment:Splign:2.1.0"
     exon            462..591
                     /gene="Galt"
                     /inference="alignment:Splign:2.1.0"
     exon            592..648
                     /gene="Galt"
                     /inference="alignment:Splign:2.1.0"
     exon            649..771
                     /gene="Galt"
                     /inference="alignment:Splign:2.1.0"
     exon            772..904
                     /gene="Galt"
                     /inference="alignment:Splign:2.1.0"
     exon            905..988
                     /gene="Galt"
                     /inference="alignment:Splign:2.1.0"
     exon            989..1143
                     /gene="Galt"
                     /inference="alignment:Splign:2.1.0"
     exon            1144..1884
                     /gene="Galt"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1299..1304
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Galt"
                     /note="hexamer: AATAAA"
     polyA_site      1323
                     /gene="Galt"
                     /note="major polyA site"
     polyA_site      1459
                     /gene="Galt"
     regulatory      1756..1761
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Galt"
                     /note="hexamer: AAGAAA"
     polyA_site      1784
                     /gene="Galt"
     polyA_site      1880
                     /gene="Galt"
ORIGIN      
        1 agacatggaa tggggcgctc accttgtgta ccttaggtca attcgtgtgg cctcacgtcg
       61 catagcggag ccgatcctga gcagcgccag caggcttcag aggcggacgc catggcagcg
      121 accttccggg cgagcggtaa ttgctgggcg gcctggaccc gctacgaaca ccagcatatt
      181 cgctacaacc cgctccagga cgagtgggtg ttagtgtcgg ctcatcgcat gaagcggccc
      241 tggcaaggac aagtggagcc ccagcttctg aagacagtgc cccgccacga cccactcaac
      301 cctctgtgtc ccggggccac acgagctaat ggggaggtga atccccacta tgatggtacc
      361 tttctgtttg acaatgactt cccggctctg cagcccgatg ctccggatcc aggacccagt
      421 gaccaccctc tcttccgagc agaggccgcc agaggagttt gtaaggtcat gtgcttccac
      481 ccctggtcgg atgtgacgct gccactcatg tctgtccctg agatccgagc tgtcatcgat
      541 gcatgggcct cagtcacaga ggagctgggt gcccagtacc cttgggtgca gatctttgaa
      601 aataaaggag ccatgatggg ctgttctaac ccccatcccc actgccaggt ttgggctagc
      661 agcttcctgc cagatatcgc ccagcgtgaa gagcgatccc agcagaccta tcacagccag
      721 catggaaaac ctttgttatt ggaatatggt caccaagagc tcctcaggaa ggaacgtctg
      781 gtcctaacca gtgagcactg gatagttctg gtccccttct gggcagtgtg gcctttccag
      841 acacttctgc tgccccggcg gcacgtgcgg cggctacctg agctgaaccc cgctgagcgt
      901 gatgatctcg cctccatcat gaagaagctc ttgaccaagt acgacaatct atttgagaca
      961 tcctttccct actccatggg ctggcatggg gctcccacgg gattaaagac tggagccacc
     1021 tgtgaccact ggcagctcca cgcccactac taccccccac ttctgcgatc cgcaactgtc
     1081 cggaagttca tggttggcta tgaaatgctt gcccaggccc agcgtgacct cactcccgaa
     1141 caggccgcag aaagattaag ggcgcttccc gaggtacact attgcctggc gcagaaagac
     1201 aaggaaacgg cagccattgc ttgactgtga ccacatcagg gccttgaatc tttgtacctg
     1261 acagacctgg gacctggagt tcgggcagat gtgacatcaa taaaactgcg tctcacattt
     1321 taaccatgtt ttctgacacc agaggagtag tgtggactct tacattccgg agtttgggta
     1381 aaggctaagt gtgactccaa acactcttgc ctacggactt tgaaaaattt ggtgcaagaa
     1441 tccccttcac caagccagac atgatggtgt gtgcctgtga ttccaccaca ttggcagctg
     1501 cattaggatt gcgaatttga ggccagtgtg ggttacttag caagacctag tctctgaaac
     1561 cgaagccatg ctggatctca tgttacaggt ctgtaatcct ggctccccag gacactgagg
     1621 caggaggatt gcaaattcaa ggctagtcag ggtagcttgg tgagactgtc tggtacaaag
     1681 gacctgtgaa ataggtcagt ggtagagtgg gtgtctgaca catgtaaggc cctgtgttca
     1741 gccctaacta tagagaagaa aatcctacct ctgctcaatg ttcactattg tctccaatcc
     1801 tcttcacttg tgatatggat agcatgctaa tttaggaggc tgtttaaaaa aatcttatgt
     1861 tcttagcttg gcagcgtcaa ccgg
//
