LOCUS       NM_001205019            4515 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens glycerol kinase (GK), transcript variant 4, mRNA.
ACCESSION   NM_001205019
VERSION     NM_001205019.2
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 4515)
  AUTHORS   Ying,F., Chen,X. and Lv,L.
  TITLE     Glycerol kinase enzyme is a prognostic predictor in esophageal
            carcinoma and is associated with immune cell infiltration
  JOURNAL   Sci Rep 14 (1), 3922 (2024)
   PUBMED   38365953
  REMARK    GeneRIF: Glycerol kinase enzyme is a prognostic predictor in
            esophageal carcinoma and is associated with immune cell
            infiltration.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4515)
  AUTHORS   Rani,R.M., Syngkli,S., Nongkhlaw,J. and Das,B.
  TITLE     Expression and characterisation of human glycerol kinase: the role
            of solubilising agents and molecular chaperones
  JOURNAL   Biosci Rep 43 (4) (2023)
   PUBMED   37021775
  REMARK    GeneRIF: Expression and characterisation of human glycerol kinase:
            the role of solubilising agents and molecular chaperones.
            Erratum:[Biosci Rep. 2023 Oct 31;43(10):BSR-2022-2258_COR. doi:
            10.1042/BSR-2022-2258_COR.. PMID: 37860917]
REFERENCE   3  (bases 1 to 4515)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   4  (bases 1 to 4515)
  AUTHORS   Miao,L., Su,F., Yang,Y., Liu,Y., Wang,L., Zhan,Y., Yin,R., Yu,M.,
            Li,C., Yang,X. and Ge,C.
  TITLE     Glycerol kinase enhances hepatic lipid metabolism by repressing
            nuclear receptor subfamily 4 group A1 in the nucleus
  JOURNAL   Biochem Cell Biol 98 (3), 370-377 (2020)
   PUBMED   31813231
  REMARK    GeneRIF: Glycerol kinase enhances hepatic lipid metabolism by
            repressing nuclear receptor subfamily 4 group A1 in the nucleus.
REFERENCE   5  (bases 1 to 4515)
  AUTHORS   Korkut,S., Bastug,O., Raygada,M., Hatipoglu,N., Kurtoglu,S.,
            Kendirci,M., Lyssikatos,C. and Stratakis,C.A.
  TITLE     Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency
            in Two Neonates
  JOURNAL   J Clin Res Pediatr Endocrinol 8 (4), 468-471 (2016)
   PUBMED   27087023
  REMARK    GeneRIF: Both patients were found to have Xp21.2 deletions
            involving all coding seqeunces of the glycerol kinase (GK) gene.
REFERENCE   6  (bases 1 to 4515)
  AUTHORS   Sargent,C.A., Young,C., Marsh,S., Ferguson-Smith,M.A. and
            Affara,N.A.
  TITLE     The glycerol kinase gene family: structure of the Xp gene, and
            related intronless retroposons
  JOURNAL   Hum Mol Genet 3 (8), 1317-1324 (1994)
   PUBMED   7987308
REFERENCE   7  (bases 1 to 4515)
  AUTHORS   Achermann,J.C. and Vilain,E.J.
  TITLE     NR0B1-Related Adrenal Hypoplasia Congenita
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301604
REFERENCE   8  (bases 1 to 4515)
  AUTHORS   Love,D.R., Bloomfield,J.F., Kenwrick,S.J., Yates,J.R. and
            Davies,K.E.
  TITLE     Physical mapping distal to the DMD locus
  JOURNAL   Genomics 8 (1), 106-112 (1990)
   PUBMED   2081587
REFERENCE   9  (bases 1 to 4515)
  AUTHORS   Pillers,D.A., Weleber,R.G., Powell,B.R., Hanna,C.E., Magenis,R.E.
            and Buist,N.R.
  TITLE     Aland Island eye disease (Forsius-Eriksson ocular albinism) and an
            Xp21 deletion in a patient with Duchenne muscular dystrophy,
            glycerol kinase deficiency, and congenital adrenal hypoplasia
  JOURNAL   Am J Med Genet 36 (1), 23-28 (1990)
   PUBMED   2159212
REFERENCE   10 (bases 1 to 4515)
  AUTHORS   Kaneko,M., Kurokawa,M. and Ishibashi,S.
  TITLE     Binding and function of mitochondrial glycerol kinase in comparison
            with those of mitochondrial hexokinase
  JOURNAL   Arch Biochem Biophys 237 (1), 135-141 (1985)
   PUBMED   2982325
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC042421.1, AK313215.1,
            AK294938.1, AA689298.1, AC112496.2 and AW300142.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 6, 2020 this sequence version replaced NM_001205019.1.
            
            Summary: The protein encoded by this gene belongs to the FGGY
            kinase family. This protein is a key enzyme in the regulation of
            glycerol uptake and metabolism. It catalyzes the phosphorylation of
            glycerol by ATP, yielding ADP and glycerol-3-phosphate. Mutations
            in this gene are associated with glycerol kinase deficiency (GKD).
            Alternatively spliced transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Mar
            2011].
            
            Transcript Variant: This variant (4) contains an additional
            in-frame coding exon at the 3' end compared to variant 1. This
            results in a longer isoform (d) with a protein segment not found in
            isoform a. The exon combination used for this variant is inferred,
            however, there is cross-species evidence for the existence of such
            a variant in mouse (AK044308:BAC31861) and cow
            (BC122692.1:AAI22693.1).
            
            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 :: SRR14038192.1056237.1,
                                           SRR1803617.174908.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000427190.6/ ENSP00000401720.2
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-351               BC042421.1         66-416
            352-844             AK313215.1         352-844
            845-1352            AK294938.1         944-1451
            1353-1697           BC042421.1         1418-1762
            1698-2133           AK294938.1         1797-2232
            2134-3215           BC042421.1         2111-3192
            3216-3661           AA689298.1         23-468              c
            3662-4493           AC112496.2         126492-127323       c
            4494-4515           AW300142.1         12-33               c
FEATURES             Location/Qualifiers
     source          1..4515
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp21.2"
     gene            1..4515
                     /gene="GK"
                     /gene_synonym="GK1; GKD"
                     /note="glycerol kinase"
                     /db_xref="GeneID:2710"
                     /db_xref="HGNC:HGNC:4289"
                     /db_xref="MIM:300474"
     exon            1..193
                     /gene="GK"
                     /gene_synonym="GK1; GKD"
                     /inference="alignment:Splign:2.1.0"
     CDS             116..1795
                     /gene="GK"
                     /gene_synonym="GK1; GKD"
                     /EC_number="2.7.1.30"
                     /note="isoform d is encoded by transcript variant 4;
                     ATP:glycerol 3-phosphotransferase; glycerokinase"
                     /codon_start=1
                     /product="glycerol kinase isoform d"
                     /protein_id="NP_001191948.1"
                     /db_xref="CCDS:CCDS75963.1"
                     /db_xref="GeneID:2710"
                     /db_xref="HGNC:HGNC:4289"
                     /db_xref="MIM:300474"
                     /translation="MAASKKAVLGPLVGAVDQGTSSTRFLVFNSKTAELLSHHQVEIK
                     QEFPREGWVEQDPKEILHSVYECIEKTCEKLGQLNIDISNIKAIGVSNQRETTVVWDK
                     ITGEPLYNAVVWLDLRTQSTVESLSKRIPGNNNFVKSKTGLPLSTYFSAVKLRWLLDN
                     VRKVQKAVEEKRALFGTIDSWLIWSLTGGVNGGVHCTDVTNASRTMLFNIHSLEWDKQ
                     LCEFFGIPMEILPNVRSSSEIYGLMKISHSVKAGALEGVPISGCLGDQSAALVGQMCF
                     QIGQAKNTYGTGCFLLCNTGHKCVFSDHGLLTTVAYKLGRDKPVYYALEGSVAIAGAV
                     IRWLRDNLGIIKTSEEIEKLAKEVGTSYGCYFVPAFSGLYAPYWEPSARGIICGLTQF
                     TNKCHIAFAALEAVCFQTREILDAMNRDCGIPLSHLQVDGGMTSNKILMQLQADILYI
                     PVVKPSMPETTALGAAMAAGAAEGVGVWSLEPEDLSAVTMERFEPQINAEESEIRYST
                     WKKAVMKSMGWVTTQSPESGDPSIFCSLPLGFFIVSSMVMLIGARYISGIP"
     exon            194..267
                     /gene="GK"
                     /gene_synonym="GK1; GKD"
                     /inference="alignment:Splign:2.1.0"
     exon            268..374
                     /gene="GK"
                     /gene_synonym="GK1; GKD"
                     /inference="alignment:Splign:2.1.0"
     exon            375..452
                     /gene="GK"
                     /gene_synonym="GK1; GKD"
                     /inference="alignment:Splign:2.1.0"
     exon            453..529
                     /gene="GK"
                     /gene_synonym="GK1; GKD"
                     /inference="alignment:Splign:2.1.0"
     exon            530..667
                     /gene="GK"
                     /gene_synonym="GK1; GKD"
                     /inference="alignment:Splign:2.1.0"
     exon            668..777
                     /gene="GK"
                     /gene_synonym="GK1; GKD"
                     /inference="alignment:Splign:2.1.0"
     exon            778..844
                     /gene="GK"
                     /gene_synonym="GK1; GKD"
                     /inference="alignment:Splign:2.1.0"
     exon            845..862
                     /gene="GK"
                     /gene_synonym="GK1; GKD"
                     /inference="alignment:Splign:2.1.0"
     exon            863..898
                     /gene="GK"
                     /gene_synonym="GK1; GKD"
                     /inference="alignment:Splign:2.1.0"
     exon            899..966
                     /gene="GK"
                     /gene_synonym="GK1; GKD"
                     /inference="alignment:Splign:2.1.0"
     exon            967..1009
                     /gene="GK"
                     /gene_synonym="GK1; GKD"
                     /inference="alignment:Splign:2.1.0"
     exon            1010..1090
                     /gene="GK"
                     /gene_synonym="GK1; GKD"
                     /inference="alignment:Splign:2.1.0"
     exon            1091..1169
                     /gene="GK"
                     /gene_synonym="GK1; GKD"
                     /inference="alignment:Splign:2.1.0"
     exon            1170..1266
                     /gene="GK"
                     /gene_synonym="GK1; GKD"
                     /inference="alignment:Splign:2.1.0"
     exon            1267..1351
                     /gene="GK"
                     /gene_synonym="GK1; GKD"
                     /inference="alignment:Splign:2.1.0"
     exon            1352..1472
                     /gene="GK"
                     /gene_synonym="GK1; GKD"
                     /inference="alignment:Splign:2.1.0"
     exon            1473..1616
                     /gene="GK"
                     /gene_synonym="GK1; GKD"
                     /inference="alignment:Splign:2.1.0"
     exon            1617..1697
                     /gene="GK"
                     /gene_synonym="GK1; GKD"
                     /inference="alignment:Splign:2.1.0"
     exon            1698..1784
                     /gene="GK"
                     /gene_synonym="GK1; GKD"
                     /inference="alignment:Splign:2.1.0"
     exon            1785..4515
                     /gene="GK"
                     /gene_synonym="GK1; GKD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2740..2745
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GK"
                     /gene_synonym="GK1; GKD"
                     /note="hexamer: AATAAA"
     polyA_site      2760
                     /gene="GK"
                     /gene_synonym="GK1; GKD"
                     /note="major polyA site"
     regulatory      3639..3644
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GK"
                     /gene_synonym="GK1; GKD"
                     /note="hexamer: AATAAA"
     polyA_site      3667
                     /gene="GK"
                     /gene_synonym="GK1; GKD"
     regulatory      4499..4504
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GK"
                     /gene_synonym="GK1; GKD"
                     /note="hexamer: AACAAA"
     polyA_site      4515
                     /gene="GK"
                     /gene_synonym="GK1; GKD"
ORIGIN      
        1 gcgttcagcg gacgcgcgcg gcctcgatct ctggactcgt cacctgcccc tccccctccc
       61 gccgccgtca cccaggaaac cggccgcaat cgccggccga cctgaagctg gtttcatggc
      121 agcctcaaag aaggcagttt tggggccatt ggtgggggcg gtggaccagg gcaccagttc
      181 gacgcgcttt ttggttttca attcaaaaac agctgaacta cttagtcatc atcaagtaga
      241 aataaaacaa gagttcccaa gagaaggatg ggtggaacag gaccctaagg aaattctaca
      301 ttctgtctat gagtgtatag agaaaacatg tgagaaactt ggacagctca atattgatat
      361 ttccaacata aaagctattg gtgtcagcaa ccagagggaa accactgtag tctgggacaa
      421 gataactgga gagcctctct acaatgctgt ggtgtggctt gatctaagaa cccagtctac
      481 cgttgagagt cttagtaaaa gaattccagg aaataataac tttgtcaagt ccaagacagg
      541 ccttccactt agcacttact tcagtgcagt gaaacttcgt tggctccttg acaatgtgag
      601 aaaagttcaa aaggccgttg aagaaaaacg agctcttttt gggactattg attcatggct
      661 tatttggagt ttgacaggag gagtcaatgg aggtgtccac tgtacagatg taacaaatgc
      721 aagtaggact atgcttttca acattcattc tttggaatgg gataaacaac tctgcgaatt
      781 ttttggaatt ccaatggaaa ttcttccaaa tgtccggagt tcttctgaga tctatggcct
      841 aatgaaaatc tctcatagcg tgaaagctgg ggccttggaa ggtgtgccaa tatctgggtg
      901 tttaggggac cagtctgctg cattggtggg acaaatgtgc ttccagattg gacaagccaa
      961 aaatacgtat ggaacaggat gtttcttact atgtaataca ggccataagt gtgtattttc
     1021 tgatcatggc cttctcacca cagtggctta caaacttggc agagacaaac cagtatatta
     1081 tgctttggaa ggttctgtag ctatagctgg tgctgttatt cgctggctaa gagacaatct
     1141 tggaattata aagacctcag aagaaattga aaaacttgct aaagaagtag gtacttctta
     1201 tggctgctac ttcgtcccag cattttcggg gttatatgca ccttattggg agcccagcgc
     1261 aagagggata atctgtggac tcactcagtt caccaataaa tgccatattg cttttgctgc
     1321 attagaagct gtttgtttcc aaactcgaga gattttggat gccatgaatc gagactgtgg
     1381 aattccactc agtcatttgc aggtagatgg aggaatgacc agcaacaaaa ttcttatgca
     1441 gctacaagca gacattctgt atataccagt agtgaagccc tcaatgcccg aaaccactgc
     1501 actgggtgcg gctatggcgg caggggctgc agaaggagtc ggcgtatgga gtctcgaacc
     1561 cgaggatttg tctgccgtca cgatggagcg gtttgaacct cagattaatg cggaggaaag
     1621 tgaaattcgt tattctacat ggaagaaagc tgtgatgaag tcaatgggtt gggttacaac
     1681 tcaatctcca gaaagtggtg accctagtat cttctgtagt ctgcccttgg gcttttttat
     1741 agtgagtagc atggtaatgt taatcggagc aaggtacatc tcaggtattc cataaaacct
     1801 accaactcat ggattcccaa gatgtgagct ttttacataa tgaaagaacc cagcaattct
     1861 gtctcttaat gcaatgacac tattcataga ctttgatttt atttataagc cacttgctgc
     1921 atgaccctcc aagtagacct gtggcttaaa ataaagaaaa tgcagcaaaa agaatgctat
     1981 agaaatattt ggtggttttt ttttttttta aacatccaca gttaaggttg ggccagctac
     2041 ctttggggct gaccccctcc attgccataa catcctgctc cattccctct aagatgtagg
     2101 aagaattcgg atccttacca ttggaatctt ccatcgaaca tactcaaaca cttttggacc
     2161 aggatttgag tctctgcatg acatatactt gattaaaagg ttattactaa cctgttaaaa
     2221 atcagcagct ctttgctttt aacagacacc ctaaaagtct tcttttctac atagttgaag
     2281 acagcaacat cttcactgaa tgtttgaata gaaacctcta ctaaattatt aaaatagaca
     2341 tttagtgttc tcacagcttg gatatttttc tgaaaagtta tttgccaaaa ctgaaatcct
     2401 tcagatgttt tccatggtcc cactaattat aatgactttc tgtctggatc ttataggaaa
     2461 agatactttc ttttttcttc catctttcct ttttatattt tttactttgt atgtataaca
     2521 tacatgccta tatattttat acactgaggg tagcccattt ataaattaag agcacattat
     2581 attcagaagg ttctaacagg gctggtctta agtgaaccac tgtgtatata aatatgttgg
     2641 aaaacagctg tatacatttt tgggcaacgg ttatgcataa tatttaccag gagaattttt
     2701 ttcttaacaa gccaacattt aaaatttatg ttttatgtca ataaaagaaa atatacttta
     2761 ttgtgacttc aactatattt cttatccctt acatttttat ttaattgtct tagcttaaaa
     2821 aaagaagaaa ctgtggaata ctacagtaaa tattgttttc aaacacaagc aataattcaa
     2881 atagttattt ttcttttgaa ttaattttag acatattttg gatcctattg aggggataag
     2941 aggatgtcaa aaaagttaaa tacctaagta gaaaaaaata tagaaataaa gccaagaatc
     3001 tctttcagtt caaatgttat caattgttaa taagaaattg ctatctggga tgacagaatt
     3061 acctctgctt agtatctcat tataactgaa agaaggttta tcattacaaa taccttccaa
     3121 tgaaaccaag aatttctcaa aatatttaat gtcacatatt ataagaagtt acctaatcct
     3181 gcttcttaac atcaattttt aaaaatatct taaaattact ttgttttgta gtaaacagtg
     3241 aagaaaagat tgcctcctaa ttattttttt caatgagtgc tgaatgggaa aacatttata
     3301 tcttactata aaaggttctg ttttgtttgg aatcaatggt agctttattg actgttctga
     3361 ttgtgctgtt tctaatttat tgaatctgct aggttttatt gatgcagcca ccacttaagt
     3421 gacataaata ttatagaaag gtactgtgaa atgatcactt tgtggcaggg gtacttttaa
     3481 acataaatgt ttctacaaaa gtaggttgag ttcattgtaa ataattgtga aagccactgt
     3541 tcaaataatt ttaagattac attaattttt ctataaattg gaagatttat aaatgtttga
     3601 aattgtacac attgatattt aatgacaaat ttacttaaaa taaattgacc ccttgttctt
     3661 acttgcattt ctcatttaca gactagaact tagttgaaag ttaaattaag aaagatgttt
     3721 cagaggccgg gcacggtggc tgacgcctgt aatcccagca ctttgggagg ccgaggtggg
     3781 cagatcacct gaggtcagga gttcgggact agcctaaccg acatggagaa accctatctc
     3841 tactaaaaaa aaaaaaagat gtttcaggac atgtgaaact tggctgttag cgcttgatag
     3901 ggcacactct gaagagttaa ccaacagcca aagaagtaat ttctgtaatg atgaacactt
     3961 taatcattct attagaagaa actacactgt cccatctcag catttgcaaa aaataatgtt
     4021 ggtaaggtca gcagccatta tcaacagggc cttgcatggc taactttgac caccattttt
     4081 ctctcaacct gataggcaac acctcaatcc tttgttctcc aactaatcag taaaataagt
     4141 aatgcatctc tgcttctgta atgatatctt agaattttta gtatgtttct tttgaagtgc
     4201 ccaaagccca attctttggg atatcttttg ggtatctggt atcatgtggg agtgaagaaa
     4261 gaaagttttt ggagaaacca acaaatgaaa gctgtgatag cacagaagct aatggcattg
     4321 acagtggagt aggtagtatt taatctgtag tgtttacaac atagtagata gaagtacaaa
     4381 aattttttta actataactc tttaatagct tgttttatct agtaatattt aaataatgaa
     4441 gtttccttga tcctttgctt ttgcaaccta acaactttaa taataagttc acacaataaa
     4501 caaattagta gaaaa
//
