LOCUS       NM_000154               1397 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens galactokinase 1 (GALK1), transcript variant 1, mRNA.
ACCESSION   NM_000154
VERSION     NM_000154.2
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 1397)
  AUTHORS   Davalieva,K., Kiprijanovska,S., Ivanovski,O., Trifunovski,A.,
            Saidi,S., Dimovski,A. and Popov,Z.
  TITLE     Proteomics Profiling of Bladder Cancer Tissues from Early to
            Advanced Stages Reveals NNMT and GALK1 as Biomarkers for Early
            Detection and Prognosis of BCa
  JOURNAL   Int J Mol Sci 24 (19), 14938 (2023)
   PUBMED   37834386
  REMARK    GeneRIF: Proteomics Profiling of Bladder Cancer Tissues from Early
            to Advanced Stages Reveals NNMT and GALK1 as Biomarkers for Early
            Detection and Prognosis of BCa.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1397)
  AUTHORS   Rubio-Gozalbo,M.E., Derks,B., Das,A.M., Meyer,U., Moslinger,D.,
            Couce,M.L., Empain,A., Ficicioglu,C., Julia Palacios,N., De Los
            Santos De Pelegrin,M.M., Rivera,I.A., Scholl-Burgi,S., Bosch,A.M.,
            Cassiman,D., Demirbas,D., Gautschi,M., Knerr,I., Labrune,P.,
            Skouma,A., Verloo,P., Wortmann,S.B., Treacy,E.P., Timson,D.J. and
            Berry,G.T.
  TITLE     Galactokinase deficiency: lessons from the GalNet registry
  JOURNAL   Genet Med 23 (1), 202-210 (2021)
   PUBMED   32807972
  REMARK    GeneRIF: Galactokinase deficiency: lessons from the GalNet
            registry.
REFERENCE   3  (bases 1 to 1397)
  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   4  (bases 1 to 1397)
  AUTHORS   McAuley,M., Huang,M. and Timson,D.J.
  TITLE     Modulation of the mobility of a key region in human galactokinase:
            Impacts on catalysis and stability
  JOURNAL   Bioorg Chem 81, 649-657 (2018)
   PUBMED   30253338
  REMARK    GeneRIF: Focussing on four residues (Leu-231, Gln-242, Glu-244 and
            Glu-245) this study conducted molecular dynamics simulations to
            explore the effects of changing these residues to glycine or
            serine. The four serine variants were expressed as recombinant
            proteins. All had altered steady state enzyme kinetic parameters
            with alpha-d-galactose as a substrate.
REFERENCE   5  (bases 1 to 1397)
  AUTHORS   P,S., Ebrahimi,E.A., Ghazala,S.A., D,T.K., R,S., Priya Doss,C. G
            and Zayed,H.
  TITLE     Structural analysis of missense mutations in galactokinase 1
            (GALK1) leading to galactosemia type-2
  JOURNAL   J Cell Biochem 119 (9), 7585-7598 (2018)
   PUBMED   29893426
  REMARK    GeneRIF: Molecular docking analysis revealed a decrease in
            interaction between the protein and ATP in all the 3 mutations
            (P28T, A198V, and L139P), and molecular dynamic simulations of 50
            ns showed a loss of stability and compactness in the mutant
            proteins. Also P28T and A198V were predicted to alter the structure
            and function of GALK protein when compared to the mutant L139P.
REFERENCE   6  (bases 1 to 1397)
  AUTHORS   Kalaydjieva,L., Perez-Lezaun,A., Angelicheva,D., Onengut,S.,
            Dye,D., Bosshard,N.U., Jordanova,A., Savov,A., Yanakiev,P.,
            Kremensky,I., Radeva,B., Hallmayer,J., Markov,A., Nedkova,V.,
            Tournev,I., Aneva,L. and Gitzelmann,R.
  TITLE     A founder mutation in the GK1 gene is responsible for galactokinase
            deficiency in Roma (Gypsies)
  JOURNAL   Am J Hum Genet 65 (5), 1299-1307 (1999)
   PUBMED   10521295
REFERENCE   7  (bases 1 to 1397)
  AUTHORS   Bergsma,D.J., Ai,Y., Skach,W.R., Nesburn,K., Anoia,E., Van Horn,S.
            and Stambolian,D.
  TITLE     Fine structure of the human galactokinase GALK1 gene
  JOURNAL   Genome Res 6 (10), 980-985 (1996)
   PUBMED   8908517
REFERENCE   8  (bases 1 to 1397)
  AUTHORS   Ai,Y., Basu,M., Bergsma,D.J. and Stambolian,D.
  TITLE     Comparison of the enzymatic activities of human galactokinase GALK1
            and a related human galactokinase protein GK2
  JOURNAL   Biochem Biophys Res Commun 212 (2), 687-691 (1995)
   PUBMED   7542884
REFERENCE   9  (bases 1 to 1397)
  AUTHORS   Stambolian,D., Ai,Y., Sidjanin,D., Nesburn,K., Sathe,G.,
            Rosenberg,M. and Bergsma,D.J.
  TITLE     Cloning of the galactokinase cDNA and identification of mutations
            in two families with cataracts
  JOURNAL   Nat Genet 10 (3), 307-312 (1995)
   PUBMED   7670469
REFERENCE   10 (bases 1 to 1397)
  AUTHORS   Shin-Buehring,Y.S., Stuempfig,L., Pouget,E., Rahm,P. and Schaub,J.
  TITLE     Characterization of galactose-1-phosphate uridyl-transferase and
            galactokinase in human organs from the fetus and adult
  JOURNAL   Clin Chim Acta 112 (3), 257-265 (1981)
   PUBMED   6263522
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC087749.12.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_000154.1.
            
            Summary: Galactokinase is a major enzyme for the metabolism of
            galactose and its deficiency causes congenital cataracts during
            infancy and presenile cataracts in the adult population. [provided
            by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript. Both variants 1 and 2 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 :: SRR7346977.228710.1,
                                           DRR138519.405707.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000588479.6/ ENSP00000465930.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-221               AC087749.12        209459-209679       c
            222-411             AC087749.12        208384-208573       c
            412-531             AC087749.12        207807-207926       c
            532-667             AC087749.12        207501-207636       c
            668-849             AC087749.12        207191-207372       c
            850-1000            AC087749.12        202936-203086       c
            1001-1163           AC087749.12        202697-202859       c
            1164-1397           AC087749.12        202381-202614       c
FEATURES             Location/Qualifiers
     source          1..1397
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     gene            1..1397
                     /gene="GALK1"
                     /gene_synonym="GALK; GK1; HEL-S-19"
                     /note="galactokinase 1"
                     /db_xref="GeneID:2584"
                     /db_xref="HGNC:HGNC:4118"
                     /db_xref="MIM:604313"
     exon            1..221
                     /gene="GALK1"
                     /gene_synonym="GALK; GK1; HEL-S-19"
                     /inference="alignment:Splign:2.1.0"
     CDS             57..1235
                     /gene="GALK1"
                     /gene_synonym="GALK; GK1; HEL-S-19"
                     /EC_number="2.7.1.6"
                     /note="galactose kinase; epididymis secretory protein Li
                     19"
                     /codon_start=1
                     /product="galactokinase"
                     /protein_id="NP_000145.1"
                     /db_xref="CCDS:CCDS11728.1"
                     /db_xref="GeneID:2584"
                     /db_xref="HGNC:HGNC:4118"
                     /db_xref="MIM:604313"
                     /translation="MAALRQPQVAELLAEARRAFREEFGAEPELAVSAPGRVNLIGEH
                     TDYNQGLVLPMALELMTVLVGSPRKDGLVSLLTTSEGADEPQRLQFPLPTAQRSLEPG
                     TPRWANYVKGVIQYYPAAPLPGFSAVVVSSVPLGGGLSSSASLEVATYTFLQQLCPDS
                     GTIAARAQVCQQAEHSFAGMPCGIMDQFISLMGQKGHALLIDCRSLETSLVPLSDPKL
                     AVLITNSNVRHSLASSEYPVRRRQCEEVARALGKESLREVQLEELEAARDLVSKEGFR
                     RARHVVGEIRRTAQAAAALRRGDYRAFGRLMVESHRSLRDDYEVSCPELDQLVEAALA
                     VPGVYGSRMTGGGFGGCTVTLLEASAAPHAMRHIQEHYGGTATFYLSQAADGAKVLCL
                     "
     exon            222..411
                     /gene="GALK1"
                     /gene_synonym="GALK; GK1; HEL-S-19"
                     /inference="alignment:Splign:2.1.0"
     exon            412..531
                     /gene="GALK1"
                     /gene_synonym="GALK; GK1; HEL-S-19"
                     /inference="alignment:Splign:2.1.0"
     exon            532..667
                     /gene="GALK1"
                     /gene_synonym="GALK; GK1; HEL-S-19"
                     /inference="alignment:Splign:2.1.0"
     exon            668..849
                     /gene="GALK1"
                     /gene_synonym="GALK; GK1; HEL-S-19"
                     /inference="alignment:Splign:2.1.0"
     exon            850..1000
                     /gene="GALK1"
                     /gene_synonym="GALK; GK1; HEL-S-19"
                     /inference="alignment:Splign:2.1.0"
     exon            1001..1163
                     /gene="GALK1"
                     /gene_synonym="GALK; GK1; HEL-S-19"
                     /inference="alignment:Splign:2.1.0"
     exon            1164..1397
                     /gene="GALK1"
                     /gene_synonym="GALK; GK1; HEL-S-19"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1329..1334
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GALK1"
                     /gene_synonym="GALK; GK1; HEL-S-19"
                     /note="hexamer: AATAAA"
     polyA_site      1347
                     /gene="GALK1"
                     /gene_synonym="GALK; GK1; HEL-S-19"
                     /note="major polyA site"
ORIGIN      
        1 atcccgcgcc gacggggctg tgccggagca gctgtgcaga gctgcaggcg cgcgtcatgg
       61 ctgctttgag acagccccag gtcgcggagc tgctggccga ggcccggcga gccttccggg
      121 aggagttcgg ggccgagccc gagctggccg tgtcagcgcc gggccgcgtc aacctcatcg
      181 gggaacacac ggactacaac cagggcctgg tgctgcctat ggctctggag ctcatgacgg
      241 tgctggtggg cagcccccgc aaggatgggc tggtgtctct cctcaccacc tctgagggtg
      301 ccgatgagcc ccagcggctg cagtttccac tgcccacagc ccagcgctcg ctggagcctg
      361 ggactcctcg gtgggccaac tatgtcaagg gagtgattca gtactaccca gctgcccccc
      421 tccctggctt cagtgcagtg gtggtcagct cagtgcccct ggggggtggc ctgtccagct
      481 cagcatcctt ggaagtggcc acgtacacct tcctccagca gctctgtcca gactcgggca
      541 caatagctgc ccgcgcccag gtgtgtcagc aggccgagca cagcttcgca gggatgccct
      601 gtggcatcat ggaccagttc atctcactta tgggacagaa aggccacgcg ctgctcattg
      661 actgcaggtc cttggagacc agcctggtgc cactctcgga ccccaagctg gccgtgctca
      721 tcaccaactc taatgtccgc cactccctgg cctccagcga gtaccctgtg cggcggcgcc
      781 aatgtgaaga agtggcccgg gcgctgggca aggaaagcct ccgggaggta caactggaag
      841 agctagaggc tgccagggac ctggtgagca aagagggctt ccggcgggcc cggcacgtgg
      901 tgggggagat tcggcgcacg gcccaggcag cggccgccct gagacgtggc gactacagag
      961 cctttggccg cctcatggtg gagagccacc gctcactcag agacgactat gaggtgagct
     1021 gcccagagct ggaccagctg gtggaggctg cgcttgctgt gcctggggtt tatggcagcc
     1081 gcatgacggg cggtggcttc ggtggctgca cggtgacact gctggaggcc tccgctgctc
     1141 cccacgccat gcggcacatc caggagcact acggcgggac tgccaccttc tacctctctc
     1201 aagcagccga tggagccaag gtgctgtgct tgtgaggcac ccccaggaca gcacacggtg
     1261 agggtgcggg gcctgcaggc cagtcccacg gctctgtgcc cggtgccatc ttccatatcc
     1321 gggtgctcaa taaacttgtg cctccaatgt ggtacctgcc tcctctagag gtgggtgtat
     1381 gcttgggtgt cagagaa
//
