LOCUS       NM_001001556            5290 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens galactokinase 2 (GALK2), transcript variant 2, mRNA.
ACCESSION   NM_001001556
VERSION     NM_001001556.3
KEYWORDS    RefSeq.
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 5290)
  AUTHORS   Agnew,A. and Timson,D.
  TITLE     Mechanistic studies on human N-acetylgalactosamine kinase
  JOURNAL   J Enzyme Inhib Med Chem 25 (3), 370-376 (2010)
   PUBMED   19874134
  REMARK    GeneRIF: GALK2 has an ordered ternary complex mechanism in which
            ATP is the first substrate to bind
            GeneRIF: Kinetic studies suggest an ordered ternary complex
            mechanism in which ATP is the first substrate to bind.
REFERENCE   2  (bases 1 to 5290)
  AUTHORS   Thoden,J.B. and Holden,H.M.
  TITLE     The molecular architecture of human N-acetylgalactosamine kinase
  JOURNAL   J Biol Chem 280 (38), 32784-32791 (2005)
   PUBMED   16006554
  REMARK    GeneRIF: geometry and substrate specificity of the GalNAc kinase
            active site before and after catalysis
REFERENCE   3  (bases 1 to 5290)
  AUTHORS   Pastuszak,I., O'Donnell,J. and Elbein,A.D.
  TITLE     Identification of the GalNAc kinase amino acid sequence
  JOURNAL   J Biol Chem 271 (39), 23653-23656 (1996)
   PUBMED   8798585
REFERENCE   4  (bases 1 to 5290)
  AUTHORS   Pastuszak,I., Drake,R. and Elbein,A.D.
  TITLE     Kidney N-acetylgalactosamine (GalNAc)-1-phosphate kinase, a new
            pathway of GalNAc activation
  JOURNAL   J Biol Chem 271 (34), 20776-20782 (1996)
   PUBMED   8702831
REFERENCE   5  (bases 1 to 5290)
  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   6  (bases 1 to 5290)
  AUTHORS   Lee,R.T., Peterson,C.L., Calman,A.F., Herskowitz,I. and
            O'Donnell,J.J.
  TITLE     Cloning of a human galactokinase gene (GK2) on chromosome 15 by
            complementation in yeast
  JOURNAL   Proc Natl Acad Sci U S A 89 (22), 10887-10891 (1992)
   PUBMED   1438294
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC390737.1, AF461816.1,
            AL832745.1, BX096260.1, BX455251.2, CA841825.1 and AC022306.6.
            
            On May 31, 2019 this sequence version replaced NM_001001556.2.
            
            Summary: This gene encodes a highly efficient N-acetylgalactosamine
            (GalNAc) kinase, which has galactokinase activity when galactose is
            present at high concentrations. The encoded protein is a member of
            the GHMP kinase family. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jun 2017].
            
            Transcript Variant: This variant (2) has an alternate 5' exon, as
            compared to variant 1. The encoded isoform (2) has a shorter and
            alternate N-terminus, as compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.89466.1,
                                           SRR1660809.263349.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 DC390737.1         119-123
            6-1938              AF461816.1         1-1933
            1939-2079           AL832745.1         1936-2076
            2080-2390           BX096260.1         43-353
            2391-2746           AL832745.1         2387-2742
            2747-3174           BX455251.2         33-460              c
            3175-3213           CA841825.1         1-39                c
            3214-5290           AC022306.6         83223-85299
FEATURES             Location/Qualifiers
     source          1..5290
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.1-q21.2"
     gene            1..5290
                     /gene="GALK2"
                     /gene_synonym="GK2"
                     /note="galactokinase 2"
                     /db_xref="GeneID:2585"
                     /db_xref="HGNC:HGNC:4119"
                     /db_xref="MIM:137028"
     exon            1..243
                     /gene="GALK2"
                     /gene_synonym="GK2"
                     /inference="alignment:Splign:2.1.0"
     CDS             224..1567
                     /gene="GALK2"
                     /gene_synonym="GK2"
                     /EC_number="2.7.1.157"
                     /note="isoform 2 is encoded by transcript variant 2;
                     N-acetylgalactosamine kinase; galNAc kinase"
                     /codon_start=1
                     /product="N-acetylgalactosamine kinase isoform 2"
                     /protein_id="NP_001001556.1"
                     /db_xref="CCDS:CCDS32236.1"
                     /db_xref="GeneID:2585"
                     /db_xref="HGNC:HGNC:4119"
                     /db_xref="MIM:137028"
                     /translation="MPVLYDRLLKLKEMFNSKFGSIPKFYVRAPGRVNIIGEHIDYCG
                     YSVLPMAVEQDVLIAVEPVKTYALQLANTNPLYPDFSTSANNIQIDKTKPLWHNYFLC
                     GLKGIQEHFGLSNLTGMNCLVDGNIPPSSGLSSSSALVCCAGLVTLTVLGRNLSKVEL
                     AEICAKSERYIGTEGGGMDQSISFLAEEGTAKLIEFSPLRATDVKLPSGAVFVIANSC
                     VEMNKAATSHFNIRVMECRLAAKLLAKYKSLQWDKVLRLEEVQAKLGISLEEMLLVTE
                     DALHPEPYNPEEICRCLGISLEELRTQILSPNTQDVLIFKLYQRAKHVYSEAARVLQF
                     KKICEEAPENMVQLLGELMNQSHMSCRDMYECSCPELDQLVDICRKFGAQGSRLTGAG
                     WGGCTVSMVPADKLPSFLANVHKAYYQRSDGSLAPEKQSLFATKPGGGALVLLEA"
     exon            244..332
                     /gene="GALK2"
                     /gene_synonym="GK2"
                     /inference="alignment:Splign:2.1.0"
     exon            333..456
                     /gene="GALK2"
                     /gene_synonym="GK2"
                     /inference="alignment:Splign:2.1.0"
     exon            457..547
                     /gene="GALK2"
                     /gene_synonym="GK2"
                     /inference="alignment:Splign:2.1.0"
     exon            548..694
                     /gene="GALK2"
                     /gene_synonym="GK2"
                     /inference="alignment:Splign:2.1.0"
     exon            695..793
                     /gene="GALK2"
                     /gene_synonym="GK2"
                     /inference="alignment:Splign:2.1.0"
     exon            794..946
                     /gene="GALK2"
                     /gene_synonym="GK2"
                     /inference="alignment:Splign:2.1.0"
     exon            947..1157
                     /gene="GALK2"
                     /gene_synonym="GK2"
                     /inference="alignment:Splign:2.1.0"
     exon            1158..1359
                     /gene="GALK2"
                     /gene_synonym="GK2"
                     /inference="alignment:Splign:2.1.0"
     exon            1360..5290
                     /gene="GALK2"
                     /gene_synonym="GK2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1914..1919
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GALK2"
                     /gene_synonym="GK2"
                     /note="hexamer: ATTAAA"
     polyA_site      1938
                     /gene="GALK2"
                     /gene_synonym="GK2"
                     /note="major polyA site"
     regulatory      5272..5277
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GALK2"
                     /gene_synonym="GK2"
                     /note="hexamer: AAGAAA"
     polyA_site      5290
                     /gene="GALK2"
                     /gene_synonym="GK2"
ORIGIN      
        1 gaagtggttg gtgccttagc aactaaagct ggcaactggg acatcgtccg gtgctgcagg
       61 tctcagccga agggcgtcgg aaactgcgct cgcatcgagc agtttccagc ctcctgggta
      121 aaggagcagt ctcctccctt gcttgggact ctggacgcat ctcattccgg tgaaagtaag
      181 ggacagctta ggaccagaag cctttcgcgg agaaaaggct gacatgcccg tcctatatga
      241 caggttactg aagctaaagg agatgtttaa ctccaagttt ggatctattc ccaagtttta
      301 tgttcgagca ccaggaagag tcaacataat aggagagcat atagattatt gtggatattc
      361 tgttcttcct atggctgtag aacaagatgt gctaatagct gtagaacctg tgaaaacgta
      421 cgctctccaa ctggccaata caaatccctt gtatccggac ttcagtacta gtgctaataa
      481 catccagatt gataaaacca agcctttgtg gcacaactat ttcttatgtg gacttaaagg
      541 aattcaggaa cactttggtc ttagtaacct gactggaatg aactgcctgg tagatggaaa
      601 tatcccacca agttctggcc tctccagctc cagtgctttg gtctgttgtg ctggcttggt
      661 gacgctcaca gtgctgggaa ggaatctatc caaggtggaa cttgcagaaa tctgtgccaa
      721 gagtgagcgt tacattggca ctgaaggagg aggcatggac cagtctatat catttcttgc
      781 agaagaagga actgccaagt tgatagaatt tagtcctctg agggcaaccg atgtaaaact
      841 cccaagtgga gcagtgtttg tgattgccaa cagttgtgtg gagatgaata aggcagcaac
      901 ttcccatttc aatatcaggg tgatggagtg tcggctggct gcgaagctcc tggctaaata
      961 caaaagcttg caatgggaca aagtactgag gctggaggag gtgcaggcta aactagggat
     1021 tagtctagaa gaaatgctgt tggtcacaga agatgccctt catcctgaac cctataaccc
     1081 tgaggagatc tgcaggtgtc tgggaattag cctggaggaa ctccgaaccc aaatcctgag
     1141 tccaaacact caagatgtgc tcatcttcaa actctatcag cgggcaaagc atgtgtacag
     1201 cgaggctgcg cgagtgctcc agtttaagaa gatatgtgaa gaagcacctg aaaacatggt
     1261 ccagctgctg ggagagttga tgaaccagag ccacatgagc tgccgggaca tgtatgagtg
     1321 cagctgcccc gagctggatc agctggtgga catctgtcgg aagtttgggg ctcaagggtc
     1381 acgacttact ggagcaggat ggggaggctg cacagtatca atggtacctg cggacaagct
     1441 gcccagcttt ctagcaaatg tgcacaaagc ttattaccag aggagtgatg gaagcttagc
     1501 accggagaag caaagtttgt ttgctaccaa acctggaggt ggggctttgg ttttgcttga
     1561 ggcctgaaaa aatgtaaaaa gtctgagaga aactacttag ggcacttagg aattggcagg
     1621 actttctgtg ccacagtaaa ttaatcttcc ttctgttttg tattatgatg aacggttgct
     1681 attatatcaa gatatatttt caaagaaatg gttgaaagct ctctatgctt cataatgatt
     1741 ctttttccat cttaaaatat ggttttacta ttaagagcca agatcatgct tggacagatc
     1801 ttttaagaat aacttactga gatttattga tttgaagatt ttaaagatga atggtaaaac
     1861 acactcttaa tactgattac atggattgga cttgaattaa atatattgtt acaattaaac
     1921 tgataccact gaattgtatg cattattctt gaatagagtt catttctggt ttctcttagt
     1981 attcttcttc ctcaaagttg tagttgtctg ttgatgatgg tgatgatgat gatgatgacg
     2041 atagtgatgc cacacattct ctctcaattt cagcttcgga acgctatgaa aataatacat
     2101 gattaaagtt tcacagatct tcttggacat tgtataattg aatttgaatg tgagatttct
     2161 ccagttatca agagactaag gatttttttt tttttttgac aaaaggagga tacaggaaga
     2221 aaattcagac tcatttgaat atttgtaaac catgtaatat ataaataacc actttcaatt
     2281 cttttggccc tgagctatct ccattactta atagaaaaac ttagataaaa aacactttaa
     2341 gactcttcta ttcacattga aataaagaat tatctagatg ataattcaga taattcagtt
     2401 tgttcataga attactttct tatcactctt tttctactac tttttctcaa atacctctct
     2461 aatccaagag gcacttccaa gaaattccac acattcctta tatccctttt ttgcttgtct
     2521 agcaaagctt gtttgtatat atgcacccca ttgtaaagca ggtatgcagg tatgtgggtg
     2581 aaagtgacta tgaaaagact taatgaattc tgggatttgt aatggtattg atgggtatct
     2641 ctgtatgtat atcaagagtg ggcagaaatg tttggctggt gatggcaaat gactggcttt
     2701 ctcttgtgga tggactatag gaagcacttt ctgaattatg taatgatttg gaccaaaaag
     2761 tattttgctg aaatactcag gtaattgaga tagcaatggt tttatggcat gaattatcca
     2821 aaaaaatatc agaattactt attattctgt gatttcatta gctcattaat gtttaactca
     2881 cagattgggc atcaccatct agaatttcag tttaagggag gcctgcgcaa agctagtttt
     2941 atttcttaaa ggataacagt catacataga atactaggaa agccaatatt ctatttaaaa
     3001 ataaacttct gatgcatttt cattcttagc agaaaggtaa atgcttgaga aagcttgagt
     3061 caaatttgtt aaaagaattt tgagttctat aaatccaaaa atctgaaacc tgaatttatt
     3121 taaatttata atcctttatt ttttaatacc gtgccatttt ccacaaagga tttgtggttg
     3181 gtatataatt ctttaaagat acctggatca gtgtaaaaaa aaaaaaaaaa aggcacctgt
     3241 cattgttttg ctgttccatt tacaattttc accaggtgat ttcttcttca caaaaggtga
     3301 gtaaaaattt ccaatgtgca ctcttctttg ggggacacac atggtcattc taagcgaggg
     3361 atctattcta tatttgtttt gatttctctc gataaaaaga actatgtttc agtcttacta
     3421 tcactgtgtg gtatctagat attatgagag atgctaaact tacctggaag ggatagggcc
     3481 ggggccatta gaaaaaagat catgcagtaa atggactttg agcatggccc taaaagatga
     3541 gtagagttta aaagctgtgg agtgcacact gcagatgagc aaagcctatg ggtataggca
     3601 aacatggtgt gtgtaggagg ctcagtgaga gtgaaggctt tgctttggta tgtagtgaag
     3661 aataagattg actacactgg ctggagctag cttttgaaga gtcaaatcca ggcagcattt
     3721 agatcagggg ttatagccca gcagcccatg ggccacatct ggtctgcaga tgtatatagt
     3781 ttggcccaca gaatgactaa aaacttgggc tccaaatcag gagattgtac aagcagtatc
     3841 agatattctg gattactcag aatctggatt actgagtggt ggaatatctg atactacttg
     3901 tccaacattt ctacagggca tcaatgaact agggctgaga tagtagctgc cttgttagat
     3961 gaggcatggc tatccagtgc gctacagttt ccacaactgc ttgtataata gtttccctga
     4021 cactcaaatc atttaccact taccagctga ggtcacttgc cctttatcag gacacttgca
     4081 ctgttgtttt cctattctaa ttaggtattt ctctgtgccc atgtccctat caatagtagg
     4141 gaagatagac caaaaaaaaa aaaaaagaga gaaagaatga atatttttgt gtgtggatgt
     4201 aaaaaatagt ccttagctgg gagtggtggc atgtgcctgc tgtcccagct actcaggagg
     4261 ctgaggcagg aggatcactt gagctgagga cttcaaagct acagtgagcc atgactgcag
     4321 cactgcactc cagcctggga gacaggtgac agagtgagac cctgtttcaa caacaacaac
     4381 aaaaatgaat agtcctgttt gcttattata ctgtcctgtt tgtatattat acaacaccca
     4441 ggtgtttcac tctttctatc acttttctgc cccatgtagg aatttgattt gatccatttt
     4501 tgacattata ctagcagcca atgggattgc tctagatttt tgaatggaag ccttgacatg
     4561 ctgaaagtaa aaggctctcc tctatccctg acctccaatt gtccagcatt cagacatatt
     4621 gtacactagt ctctacatgt tcttgtctgt tgggagagaa gaagcccttc agacttaaca
     4681 agaatgccca taagtaaaga gaagcaaaag agaagatgac aaggaaaatc agaaagatgg
     4741 aacaggctcc tttcttttct ttctttctca tacttgagtc ctgtttagaa ccttatcata
     4801 ttctgccttg ataattgagg gcagggacca ttcatctaac acagctgttg gtacccaata
     4861 tgattttgtt gaattattaa tgaaaaactt acaattttaa acatcagtga ttattagttt
     4921 gtaattctaa ctgcatttgg agcttttcag ttacataaac tgttcctggt cagaagctgg
     4981 aaatggggaa tgtgaacatg agttgtcact aaatatgtaa aacagatttt cttacatgtg
     5041 catgtagatg attaagtaac aagaatgtat cctctcctgc cactgtaatt tgggtgtgcc
     5101 accatacatt gcttatgaaa tattgtccag tctatataaa agaagctaga gagagaattc
     5161 tcaattattt tcagaaagaa aacctaccag tttatgtagg aacttctcaa agtcctgttt
     5221 cacttcatga ggtttcttgg tagcctttgc ttggagtcta atcatggaat aaagaaaatc
     5281 agtaaccaaa
//
