LOCUS       NM_002044               5176 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens galactokinase 2 (GALK2), transcript variant 1, mRNA.
ACCESSION   NM_002044
VERSION     NM_002044.4
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 5176)
  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 5176)
  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 5176)
  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 5176)
  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 5176)
  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 5176)
  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 DB457948.1, BC005141.2,
            AL832745.1, BX096260.1, BX455251.2, CA841825.1 and AC022306.6.
            
            On Nov 23, 2018 this sequence version replaced NM_002044.3.
            
            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 (1) encodes the longest isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.68875.1,
                                           SRR1803612.51208.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000560031.6/ ENSP00000453129.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-96                DB457948.1         232-327
            97-1296             BC005141.2         96-1295
            1297-1965           AL832745.1         1408-2076
            1966-2276           BX096260.1         43-353
            2277-2632           AL832745.1         2387-2742
            2633-3060           BX455251.2         33-460              c
            3061-3099           CA841825.1         1-39                c
            3100-5176           AC022306.6         83223-85299
FEATURES             Location/Qualifiers
     source          1..5176
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.1-q21.2"
     gene            1..5176
                     /gene="GALK2"
                     /gene_synonym="GK2"
                     /note="galactokinase 2"
                     /db_xref="GeneID:2585"
                     /db_xref="HGNC:HGNC:4119"
                     /db_xref="MIM:137028"
     exon            1..129
                     /gene="GALK2"
                     /gene_synonym="GK2"
                     /inference="alignment:Splign:2.1.0"
     CDS             77..1453
                     /gene="GALK2"
                     /gene_synonym="GK2"
                     /EC_number="2.7.1.157"
                     /note="isoform 1 is encoded by transcript variant 1;
                     N-acetylgalactosamine kinase; galNAc kinase"
                     /codon_start=1
                     /product="N-acetylgalactosamine kinase isoform 1"
                     /protein_id="NP_002035.1"
                     /db_xref="CCDS:CCDS42034.1"
                     /db_xref="GeneID:2585"
                     /db_xref="HGNC:HGNC:4119"
                     /db_xref="MIM:137028"
                     /translation="MATESPATRRVQVAEHPRLLKLKEMFNSKFGSIPKFYVRAPGRV
                     NIIGEHIDYCGYSVLPMAVEQDVLIAVEPVKTYALQLANTNPLYPDFSTSANNIQIDK
                     TKPLWHNYFLCGLKGIQEHFGLSNLTGMNCLVDGNIPPSSGLSSSSALVCCAGLVTLT
                     VLGRNLSKVELAEICAKSERYIGTEGGGMDQSISFLAEEGTAKLIEFSPLRATDVKLP
                     SGAVFVIANSCVEMNKAATSHFNIRVMECRLAAKLLAKYKSLQWDKVLRLEEVQAKLG
                     ISLEEMLLVTEDALHPEPYNPEEICRCLGISLEELRTQILSPNTQDVLIFKLYQRAKH
                     VYSEAARVLQFKKICEEAPENMVQLLGELMNQSHMSCRDMYECSCPELDQLVDICRKF
                     GAQGSRLTGAGWGGCTVSMVPADKLPSFLANVHKAYYQRSDGSLAPEKQSLFATKPGG
                     GALVLLEA"
     exon            130..218
                     /gene="GALK2"
                     /gene_synonym="GK2"
                     /inference="alignment:Splign:2.1.0"
     exon            219..342
                     /gene="GALK2"
                     /gene_synonym="GK2"
                     /inference="alignment:Splign:2.1.0"
     exon            343..433
                     /gene="GALK2"
                     /gene_synonym="GK2"
                     /inference="alignment:Splign:2.1.0"
     exon            434..580
                     /gene="GALK2"
                     /gene_synonym="GK2"
                     /inference="alignment:Splign:2.1.0"
     exon            581..679
                     /gene="GALK2"
                     /gene_synonym="GK2"
                     /inference="alignment:Splign:2.1.0"
     exon            680..832
                     /gene="GALK2"
                     /gene_synonym="GK2"
                     /inference="alignment:Splign:2.1.0"
     exon            833..1043
                     /gene="GALK2"
                     /gene_synonym="GK2"
                     /inference="alignment:Splign:2.1.0"
     exon            1044..1245
                     /gene="GALK2"
                     /gene_synonym="GK2"
                     /inference="alignment:Splign:2.1.0"
     exon            1246..5176
                     /gene="GALK2"
                     /gene_synonym="GK2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1800..1805
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GALK2"
                     /gene_synonym="GK2"
                     /note="hexamer: ATTAAA"
     polyA_site      1824
                     /gene="GALK2"
                     /gene_synonym="GK2"
                     /note="major polyA site"
     regulatory      5158..5163
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GALK2"
                     /gene_synonym="GK2"
                     /note="hexamer: AAGAAA"
     polyA_site      5176
                     /gene="GALK2"
                     /gene_synonym="GK2"
ORIGIN      
        1 acagaagtct cgtgattgct ctgggagctt tgcttagaca cttgaaacta caggagaaag
       61 aaggatctag cgaaatatgg ctacagagag ccctgctacg cgtcgggtcc aggtggcaga
      121 acatcctagg ttactgaagc taaaggagat gtttaactcc aagtttggat ctattcccaa
      181 gttttatgtt cgagcaccag gaagagtcaa cataatagga gagcatatag attattgtgg
      241 atattctgtt cttcctatgg ctgtagaaca agatgtgcta atagctgtag aacctgtgaa
      301 aacgtacgct ctccaactgg ccaatacaaa tcccttgtat ccggacttca gtactagtgc
      361 taataacatc cagattgata aaaccaagcc tttgtggcac aactatttct tatgtggact
      421 taaaggaatt caggaacact ttggtcttag taacctgact ggaatgaact gcctggtaga
      481 tggaaatatc ccaccaagtt ctggcctctc cagctccagt gctttggtct gttgtgctgg
      541 cttggtgacg ctcacagtgc tgggaaggaa tctatccaag gtggaacttg cagaaatctg
      601 tgccaagagt gagcgttaca ttggcactga aggaggaggc atggaccagt ctatatcatt
      661 tcttgcagaa gaaggaactg ccaagttgat agaatttagt cctctgaggg caaccgatgt
      721 aaaactccca agtggagcag tgtttgtgat tgccaacagt tgtgtggaga tgaataaggc
      781 agcaacttcc catttcaata tcagggtgat ggagtgtcgg ctggctgcga agctcctggc
      841 taaatacaaa agcttgcaat gggacaaagt actgaggctg gaggaggtgc aggctaaact
      901 agggattagt ctagaagaaa tgctgttggt cacagaagat gcccttcatc ctgaacccta
      961 taaccctgag gagatctgca ggtgtctggg aattagcctg gaggaactcc gaacccaaat
     1021 cctgagtcca aacactcaag atgtgctcat cttcaaactc tatcagcggg caaagcatgt
     1081 gtacagcgag gctgcgcgag tgctccagtt taagaagata tgtgaagaag cacctgaaaa
     1141 catggtccag ctgctgggag agttgatgaa ccagagccac atgagctgcc gggacatgta
     1201 tgagtgcagc tgccccgagc tggatcagct ggtggacatc tgtcggaagt ttggggctca
     1261 agggtcacga cttactggag caggatgggg aggctgcaca gtatcaatgg tacctgcgga
     1321 caagctgccc agctttctag caaatgtgca caaagcttat taccagagga gtgatggaag
     1381 cttagcaccg gagaagcaaa gtttgtttgc taccaaacct ggaggtgggg ctttggtttt
     1441 gcttgaggcc tgaaaaaatg taaaaagtct gagagaaact acttagggca cttaggaatt
     1501 ggcaggactt tctgtgccac agtaaattaa tcttccttct gttttgtatt atgatgaacg
     1561 gttgctatta tatcaagata tattttcaaa gaaatggttg aaagctctct atgcttcata
     1621 atgattcttt ttccatctta aaatatggtt ttactattaa gagccaagat catgcttgga
     1681 cagatctttt aagaataact tactgagatt tattgatttg aagattttaa agatgaatgg
     1741 taaaacacac tcttaatact gattacatgg attggacttg aattaaatat attgttacaa
     1801 ttaaactgat accactgaat tgtatgcatt attcttgaat agagttcatt tctggtttct
     1861 cttagtattc ttcttcctca aagttgtagt tgtctgttga tgatggtgat gatgatgatg
     1921 atgacgatag tgatgccaca cattctctct caatttcagc ttcggaacgc tatgaaaata
     1981 atacatgatt aaagtttcac agatcttctt ggacattgta taattgaatt tgaatgtgag
     2041 atttctccag ttatcaagag actaaggatt tttttttttt tttgacaaaa ggaggataca
     2101 ggaagaaaat tcagactcat ttgaatattt gtaaaccatg taatatataa ataaccactt
     2161 tcaattcttt tggccctgag ctatctccat tacttaatag aaaaacttag ataaaaaaca
     2221 ctttaagact cttctattca cattgaaata aagaattatc tagatgataa ttcagataat
     2281 tcagtttgtt catagaatta ctttcttatc actctttttc tactactttt tctcaaatac
     2341 ctctctaatc caagaggcac ttccaagaaa ttccacacat tccttatatc ccttttttgc
     2401 ttgtctagca aagcttgttt gtatatatgc accccattgt aaagcaggta tgcaggtatg
     2461 tgggtgaaag tgactatgaa aagacttaat gaattctggg atttgtaatg gtattgatgg
     2521 gtatctctgt atgtatatca agagtgggca gaaatgtttg gctggtgatg gcaaatgact
     2581 ggctttctct tgtggatgga ctataggaag cactttctga attatgtaat gatttggacc
     2641 aaaaagtatt ttgctgaaat actcaggtaa ttgagatagc aatggtttta tggcatgaat
     2701 tatccaaaaa aatatcagaa ttacttatta ttctgtgatt tcattagctc attaatgttt
     2761 aactcacaga ttgggcatca ccatctagaa tttcagttta agggaggcct gcgcaaagct
     2821 agttttattt cttaaaggat aacagtcata catagaatac taggaaagcc aatattctat
     2881 ttaaaaataa acttctgatg cattttcatt cttagcagaa aggtaaatgc ttgagaaagc
     2941 ttgagtcaaa tttgttaaaa gaattttgag ttctataaat ccaaaaatct gaaacctgaa
     3001 tttatttaaa tttataatcc tttatttttt aataccgtgc cattttccac aaaggatttg
     3061 tggttggtat ataattcttt aaagatacct ggatcagtgt aaaaaaaaaa aaaaaaaggc
     3121 acctgtcatt gttttgctgt tccatttaca attttcacca ggtgatttct tcttcacaaa
     3181 aggtgagtaa aaatttccaa tgtgcactct tctttggggg acacacatgg tcattctaag
     3241 cgagggatct attctatatt tgttttgatt tctctcgata aaaagaacta tgtttcagtc
     3301 ttactatcac tgtgtggtat ctagatatta tgagagatgc taaacttacc tggaagggat
     3361 agggccgggg ccattagaaa aaagatcatg cagtaaatgg actttgagca tggccctaaa
     3421 agatgagtag agtttaaaag ctgtggagtg cacactgcag atgagcaaag cctatgggta
     3481 taggcaaaca tggtgtgtgt aggaggctca gtgagagtga aggctttgct ttggtatgta
     3541 gtgaagaata agattgacta cactggctgg agctagcttt tgaagagtca aatccaggca
     3601 gcatttagat caggggttat agcccagcag cccatgggcc acatctggtc tgcagatgta
     3661 tatagtttgg cccacagaat gactaaaaac ttgggctcca aatcaggaga ttgtacaagc
     3721 agtatcagat attctggatt actcagaatc tggattactg agtggtggaa tatctgatac
     3781 tacttgtcca acatttctac agggcatcaa tgaactaggg ctgagatagt agctgccttg
     3841 ttagatgagg catggctatc cagtgcgcta cagtttccac aactgcttgt ataatagttt
     3901 ccctgacact caaatcattt accacttacc agctgaggtc acttgccctt tatcaggaca
     3961 cttgcactgt tgttttccta ttctaattag gtatttctct gtgcccatgt ccctatcaat
     4021 agtagggaag atagaccaaa aaaaaaaaaa aagagagaaa gaatgaatat ttttgtgtgt
     4081 ggatgtaaaa aatagtcctt agctgggagt ggtggcatgt gcctgctgtc ccagctactc
     4141 aggaggctga ggcaggagga tcacttgagc tgaggacttc aaagctacag tgagccatga
     4201 ctgcagcact gcactccagc ctgggagaca ggtgacagag tgagaccctg tttcaacaac
     4261 aacaacaaaa atgaatagtc ctgtttgctt attatactgt cctgtttgta tattatacaa
     4321 cacccaggtg tttcactctt tctatcactt ttctgcccca tgtaggaatt tgatttgatc
     4381 catttttgac attatactag cagccaatgg gattgctcta gatttttgaa tggaagcctt
     4441 gacatgctga aagtaaaagg ctctcctcta tccctgacct ccaattgtcc agcattcaga
     4501 catattgtac actagtctct acatgttctt gtctgttggg agagaagaag cccttcagac
     4561 ttaacaagaa tgcccataag taaagagaag caaaagagaa gatgacaagg aaaatcagaa
     4621 agatggaaca ggctcctttc ttttctttct ttctcatact tgagtcctgt ttagaacctt
     4681 atcatattct gccttgataa ttgagggcag ggaccattca tctaacacag ctgttggtac
     4741 ccaatatgat tttgttgaat tattaatgaa aaacttacaa ttttaaacat cagtgattat
     4801 tagtttgtaa ttctaactgc atttggagct tttcagttac ataaactgtt cctggtcaga
     4861 agctggaaat ggggaatgtg aacatgagtt gtcactaaat atgtaaaaca gattttctta
     4921 catgtgcatg tagatgatta agtaacaaga atgtatcctc tcctgccact gtaatttggg
     4981 tgtgccacca tacattgctt atgaaatatt gtccagtcta tataaaagaa gctagagaga
     5041 gaattctcaa ttattttcag aaagaaaacc taccagttta tgtaggaact tctcaaagtc
     5101 ctgtttcact tcatgaggtt tcttggtagc ctttgcttgg agtctaatca tggaataaag
     5161 aaaatcagta accaaa
//
