LOCUS       NM_138801               2277 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens galactose mutarotase (GALM), mRNA.
ACCESSION   NM_138801
VERSION     NM_138801.3
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 2277)
  AUTHORS   Wada,Y., Kikuchi,A., Arai-Ichinoi,N., Sakamoto,O., Takezawa,Y.,
            Iwasawa,S., Niihori,T., Nyuzuki,H., Nakajima,Y., Ogawa,E.,
            Ishige,M., Hirai,H., Sasai,H., Fujiki,R., Shirota,M., Funayama,R.,
            Yamamoto,M., Ito,T., Ohara,O., Nakayama,K., Aoki,Y., Koshiba,S.,
            Fukao,T. and Kure,S.
  TITLE     Biallelic GALM pathogenic variants cause a novel type of
            galactosemia
  JOURNAL   Genet Med 21 (6), 1286-1294 (2019)
   PUBMED   30451973
  REMARK    Erratum:[Genet Med. 2020 Jul;22(7):1281. doi:
            10.1038/s41436-020-0836-z.. PMID: 32499603]
REFERENCE   2  (bases 1 to 2277)
  AUTHORS   Liu,X., Cannon,D.M., Akula,N., Moya,P.R., Knudsen,G.M.,
            Arentzen,T.E., Steele,J., Laje,G., Drevets,W.C. and McMahon,F.J.
  TITLE     A non-synonymous polymorphism in galactose mutarotase (GALM) is
            associated with serotonin transporter binding potential in the
            human thalamus: results of a genome-wide association study
  JOURNAL   Mol Psychiatry 16 (6), 584-585 (2011)
   PUBMED   21339755
  REMARK    GeneRIF: This study demonistrated that polymorphism in galactose
            mutarotase (GALM) is associated with serotonin transporter binding
            potential in the human thalamus.
REFERENCE   3  (bases 1 to 2277)
  AUTHORS   Gonzales,P.A., Pisitkun,T., Hoffert,J.D., Tchapyjnikov,D.,
            Star,R.A., Kleta,R., Wang,N.S. and Knepper,M.A.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   4  (bases 1 to 2277)
  AUTHORS   Pai,T., Chen,Q., Zhang,Y., Zolfaghari,R. and Ross,A.C.
  TITLE     Galactomutarotase and other galactose-related genes are rapidly
            induced by retinoic acid in human myeloid cells
  JOURNAL   Biochemistry 46 (51), 15198-15207 (2007)
   PUBMED   18052213
REFERENCE   5  (bases 1 to 2277)
  AUTHORS   Thoden,J.B., Timson,D.J., Reece,R.J. and Holden,H.M.
  TITLE     Molecular structure of human galactose mutarotase
  JOURNAL   J Biol Chem 279 (22), 23431-23437 (2004)
   PUBMED   15026423
  REMARK    GeneRIF: The enzyme is a monomer and has a similar structure to the
            Lactococcus lactis mutarotase.
REFERENCE   6  (bases 1 to 2277)
  AUTHORS   Timson,D.J. and Reece,R.J.
  TITLE     Identification and characterisation of human aldose 1-epimerase
  JOURNAL   FEBS Lett 543 (1-3), 21-24 (2003)
   PUBMED   12753898
  REMARK    GeneRIF: Identification and characterisation of human aldose
            1-epimerase.
            GeneRIF: Gene encodes a functional aldose 1-epimerase (mutarotase).
            The enzyme exhibits (approx. four-fold) preference for galactose
            over glucose.  Mutation E307A results in no detactable activity.
REFERENCE   7  (bases 1 to 2277)
  AUTHORS   Sun,N.C., Chang,C.C. and Chu,E.H.
  TITLE     Mutant hamster cells exhibiting a pleiotropic effect on
            carbohydrate metabolism
  JOURNAL   Proc Natl Acad Sci U S A 72 (2), 469-473 (1975)
   PUBMED   164654
REFERENCE   8  (bases 1 to 2277)
  AUTHORS   Chu,E.H., Chang,C.C. and Sun,N.C.
  TITLE     Synteny of the human genes for Gal-1-PT, ACP1, MDH-1, and Gal+-Act
            and assignment to chromosome 2
  JOURNAL   Cytogenet Cell Genet 14 (3-6), 273-276 (1975)
   PUBMED   1192801
REFERENCE   9  (bases 1 to 2277)
  AUTHORS   Sacks,W.
  TITLE     Isolation and properties of mutarotase in erythrocytes
  JOURNAL   Arch Biochem Biophys 123 (3), 507-513 (1968)
   PUBMED   5661008
REFERENCE   10 (bases 1 to 2277)
  AUTHORS   Sacks,W.
  TITLE     Mutarotase in erythrocytes: isolation and properties
  JOURNAL   Science 158 (3800), 498-499 (1967)
   PUBMED   4963341
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC019263.1 and AC074366.6.
            
            On Nov 22, 2018 this sequence version replaced NM_138801.2.
            
            Summary: This gene encodes an enzyme that catalyzes the
            epimerization of hexose sugars such as glucose and galactose. The
            encoded protein is expressed in the cytoplasm and has a preference
            for galactose. The encoded protein may be required for normal
            galactose metabolism by maintaining the equilibrium of alpha and
            beta anomers of galactose.[provided by RefSeq, Mar 2009].
            
            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 :: SRR5189661.147495.1,
                                           SRR5189655.159073.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000272252.10/ ENSP00000272252.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1296              BC019263.1         18-1313
            1297-2277           AC074366.6         84602-85582
FEATURES             Location/Qualifiers
     source          1..2277
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p22.1"
     gene            1..2277
                     /gene="GALM"
                     /gene_synonym="BLOCK25; GALAC4; GLAT; HEL-S-63p; IBD1"
                     /note="galactose mutarotase"
                     /db_xref="GeneID:130589"
                     /db_xref="HGNC:HGNC:24063"
                     /db_xref="MIM:137030"
     exon            1..238
                     /gene="GALM"
                     /gene_synonym="BLOCK25; GALAC4; GLAT; HEL-S-63p; IBD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             49..1077
                     /gene="GALM"
                     /gene_synonym="BLOCK25; GALAC4; GLAT; HEL-S-63p; IBD1"
                     /EC_number="5.1.3.3"
                     /note="galactomutarotase; aldose 1-epimerase; epididymis
                     secretory sperm binding protein Li 63p; galactose enzyme
                     activator; aldose mutarotase"
                     /codon_start=1
                     /product="galactose mutarotase"
                     /protein_id="NP_620156.1"
                     /db_xref="CCDS:CCDS1797.1"
                     /db_xref="GeneID:130589"
                     /db_xref="HGNC:HGNC:24063"
                     /db_xref="MIM:137030"
                     /translation="MASVTRAVFGELPSGGGTVEKFQLQSDLLRVDIISWGCTITALE
                     VKDRQGRASDVVLGFAELEGYLQKQPYFGAVIGRVANRIAKGTFKVDGKEYHLAINKE
                     PNSLHGGVRGFDKVLWTPRVLSNGVQFSRISPDGEEGYPGELKVWVTYTLDGGELIVN
                     YRAQASQATPVNLTNHSYFNLAGQASPNINDHEVTIEADTYLPVDETLIPTGEVAPVQ
                     GTAFDLRKPVELGKHLQDFHLNGFDHNFCLKGSKEKHFCARVHHAASGRVLEVYTTQP
                     GVQFYTGNFLDGTLKGKNGAVYPKHSGFCLETQNWPDAVNQPRFPPVLLRPGEEYDHT
                     TWFKFSVA"
     exon            239..393
                     /gene="GALM"
                     /gene_synonym="BLOCK25; GALAC4; GLAT; HEL-S-63p; IBD1"
                     /inference="alignment:Splign:2.1.0"
     exon            394..600
                     /gene="GALM"
                     /gene_synonym="BLOCK25; GALAC4; GLAT; HEL-S-63p; IBD1"
                     /inference="alignment:Splign:2.1.0"
     exon            601..682
                     /gene="GALM"
                     /gene_synonym="BLOCK25; GALAC4; GLAT; HEL-S-63p; IBD1"
                     /inference="alignment:Splign:2.1.0"
     exon            683..824
                     /gene="GALM"
                     /gene_synonym="BLOCK25; GALAC4; GLAT; HEL-S-63p; IBD1"
                     /inference="alignment:Splign:2.1.0"
     exon            825..999
                     /gene="GALM"
                     /gene_synonym="BLOCK25; GALAC4; GLAT; HEL-S-63p; IBD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1000..2277
                     /gene="GALM"
                     /gene_synonym="BLOCK25; GALAC4; GLAT; HEL-S-63p; IBD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2253..2258
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GALM"
                     /gene_synonym="BLOCK25; GALAC4; GLAT; HEL-S-63p; IBD1"
                     /note="hexamer: AATAAA"
     polyA_site      2277
                     /gene="GALM"
                     /gene_synonym="BLOCK25; GALAC4; GLAT; HEL-S-63p; IBD1"
                     /note="major polyA site"
ORIGIN      
        1 gctggagttt gaagagcggg cagtggctgc acacgccaaa ctttccctat ggcttcggtg
       61 accagggccg tgtttggaga gctgccctcg ggaggaggga cagtggagaa gttccagctg
      121 cagtcagacc tcttgagagt ggacatcatc tcctggggct gcacgatcac agccctagag
      181 gtcaaagaca ggcaggggag agcctcggac gtggtgcttg gcttcgccga gttggaagga
      241 tacctccaaa agcagccata ctttggagca gttattggga gggtggccaa ccgaatcgcc
      301 aaaggaacct tcaaggtgga tgggaaggag tatcacctgg ccattaacaa ggaacccaac
      361 agtctgcatg gaggagtcag agggtttgat aaagtgctct ggacccctcg ggtgctgtca
      421 aatggcgtcc agttctcgcg catcagtcca gatggtgaag aaggctaccc cggagagtta
      481 aaagtctggg tgacatacac cctggatggc ggagagctca tagtcaacta cagagcacaa
      541 gccagtcagg ccacaccagt caacctgacc aaccattctt acttcaacct ggcaggccag
      601 gcttccccaa atataaatga ccatgaagtc accatagaag cggatactta tttgcctgtg
      661 gatgaaaccc tgattcctac aggagaagtt gccccagtgc aaggcactgc attcgacctg
      721 agaaagccag tggagcttgg aaaacacctg caggacttcc atctcaatgg ttttgaccac
      781 aatttctgtc tgaagggatc taaagaaaag catttttgtg caagggtgca tcatgctgca
      841 agcgggcggg tactagaagt atacaccacc cagcccgggg tccagtttta cacgggcaac
      901 ttcctggatg gcacattaaa gggcaagaat ggagctgtct atcccaagca ctccggtttc
      961 tgcctggaga ctcagaactg gcctgatgca gtcaatcagc cccgcttccc tcctgtgctg
     1021 ctgaggcctg gtgaggagta tgaccacacc acctggttca agttttctgt ggcttaagga
     1081 agtgtgaaga tatgatccag tccagggcta ggctcagcca cctgtctcct gtccagaaaa
     1141 aaggtgaaga ttaagaagct ttcagaatga ttctatggat taaaatcata caaatggtgg
     1201 ctgttctgag aatcagtctg ggtattgatt tccttttcca gtgactggct ccaggccatg
     1261 tctaatgacc agctcgattc cctgtgcagt tcagagggca agtgaaccca accaacaatg
     1321 tcgtcatcta agccctgacc ctagccaggg actcccatgc tgctgttggc tccatctctc
     1381 cacactgcct ctttcttttc aactttttgc ccttcctttc tttaaagcta ttctcacatt
     1441 gcttttattt cctcctcctt cacctccaac cactgtcagc agcactctgg agttttcaaa
     1501 tgtcacatta gcctcaccct gcatgctagg agatggacct gtctctatac agcagtagat
     1561 gattgataag tgaggaaact gaggcttaca gaggttgaag accaacaagc taataaataa
     1621 aaagttgagg ccgggcacgg tggctcacgc ctgtaatccc agcactttgg aaggccgagg
     1681 caggcggatc acgaggtcag gagatcgaga ccatcctggc taacacggtg aaaccccgtc
     1741 tctacataaa aaattagctg ggtgtggtag cacgcacctg tagtcccagc tacttgggag
     1801 gctgaagcag gagaatcgct tgaacctggg aggtggaggt tgcagtgagc cgagatcatg
     1861 ccactgcact gggcaacaga gcaaaactcg atctcaaaaa aaaaaaaaaa aaaaaggaaa
     1921 aaaaagcagc tctctctctc gggagaggga ggggacttcc gagaggaaaa ggcctgcaag
     1981 agcctttggg ttaactgaga aagcacagcc cggccaacgc ttgggaagaa agacaggcaa
     2041 gcactggaaa caggagctat tagggtgagg agagagcctt gcctttcaca gcacagtgag
     2101 gatgacattg caccagggac agagattgta tgtgacaagg ctggggctcc ttctttccta
     2161 gacaatcaaa gtatcagtga tgggttttgg ttggtgattt tgaaaaaaaa aaaaaaaagt
     2221 atgttatact agtgtatgct gtactgaatt gaaataaaac caaaatctgc atcttca
//
