LOCUS       NM_000151               4164 bp    mRNA    linear   PRI 04-DEC-2024
DEFINITION  Homo sapiens glucose-6-phosphatase catalytic subunit 1 (G6PC1),
            transcript variant 1, mRNA.
ACCESSION   NM_000151
VERSION     NM_000151.4
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 4164)
  AUTHORS   Han,A., Liu,T., Du,P., Wang,M., Liu,J. and Chen,L.
  TITLE     The FOXO1/G6PC axis promotes gastric cancer progression and
            mediates 5-fluorouracil resistance by targeting the PI3K/AKT/mTOR
            signaling pathway
  JOURNAL   Mol Carcinog 63 (4), 688-700 (2024)
   PUBMED   38224261
  REMARK    GeneRIF: The FOXO1/G6PC axis promotes gastric cancer progression
            and mediates 5-fluorouracil resistance by targeting the
            PI3K/AKT/mTOR signaling pathway.
REFERENCE   2  (bases 1 to 4164)
  AUTHORS   Li,X., Ploner,A., Wang,Y., Mak,J.K.L., Lu,Y., Magnusson,P.K.E.,
            Jylhava,J. and Hagg,S.
  TITLE     Rare functional variants in the CRP and G6PC genes modify the
            relationship between obesity and serum C-reactive protein in white
            British population
  JOURNAL   Mol Genet Genomic Med 11 (12), e2255 (2023)
   PUBMED   37493001
  REMARK    GeneRIF: Rare functional variants in the CRP and G6PC genes modify
            the relationship between obesity and serum C-reactive protein in
            white British population.
REFERENCE   3  (bases 1 to 4164)
  AUTHORS   Hawes,E.M., Boortz,K.A., Oeser,J.K., O'Rourke,M.L. and O'Brien,R.M.
  TITLE     G6PC1 and G6PC2 influence G6P flux but not HSD11B1 activity
  JOURNAL   J Mol Endocrinol 71 (4), e230070 (2023)
   PUBMED   37855366
  REMARK    GeneRIF: G6PC1 and G6PC2 influence G6P flux but not HSD11B1
            activity.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4164)
  AUTHORS   Khandelwal,R., Sharma,A.K., Biswa,B.B. and Sharma,Y.
  TITLE     Extracellular secretagogin is internalized into the cells through
            endocytosis
  JOURNAL   FEBS J 289 (11), 3183-3204 (2022)
   PUBMED   34967502
REFERENCE   5  (bases 1 to 4164)
  AUTHORS   Zhu,K., Deng,C., Du,P., Liu,T., Piao,J., Piao,Y., Yang,M. and
            Chen,L.
  TITLE     G6PC indicated poor prognosis in cervical cancer and promoted
            cervical carcinogenesis in vitro and in vivo
  JOURNAL   Reprod Biol Endocrinol 20 (1), 50 (2022)
   PUBMED   35277194
  REMARK    GeneRIF: G6PC indicated poor prognosis in cervical cancer and
            promoted cervical carcinogenesis in vitro and in vivo.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4164)
  AUTHORS   Bali,D.S., El-Gharbawy,A., Austin,S., Pendyal,S. and Kishnani,P.S.
  TITLE     Glycogen Storage Disease Type I
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301489
REFERENCE   7  (bases 1 to 4164)
  AUTHORS   Burchell,A. and Waddell,I.D.
  TITLE     Diagnosis of a novel glycogen storage disease: type 1aSP
  JOURNAL   J Inherit Metab Dis 13 (3), 247-249 (1990)
   PUBMED   2172641
REFERENCE   8  (bases 1 to 4164)
  AUTHORS   Hill,A., Waddell,I.D., Hopwood,D. and Burchell,A.
  TITLE     The microsomal glucose-6-phosphatase enzyme of human gall-bladder
  JOURNAL   J Pathol 158 (1), 53-56 (1989)
   PUBMED   2547044
REFERENCE   9  (bases 1 to 4164)
  AUTHORS   Narisawa,K., Igarashi,Y., Otomo,H. and Tada,K.
  TITLE     A new variant of glycogen storage disease type I probably due to a
            defect in the glucose-6-phosphate transport system
  JOURNAL   Biochem Biophys Res Commun 83 (4), 1360-1364 (1978)
   PUBMED   212064
REFERENCE   10 (bases 1 to 4164)
  AUTHORS   Barham,S.S., Berlin,J.D. and Brackeen,R.B.
  TITLE     The fine structural localization of testicular phosphatases in man:
            the control testis
  JOURNAL   Cell Tissue Res 166 (4), 497-510 (1976)
   PUBMED   175958
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U01120.1, AC016889.28 and
            AW614228.1.
            
            On May 17, 2019 this sequence version replaced NM_000151.3.
            
            Summary: Glucose-6-phosphatase (G6Pase) is a multi-subunit integral
            membrane protein of the endoplasmic reticulum that is composed of a
            catalytic subunit and transporters for G6P, inorganic phosphate,
            and glucose. This gene (G6PC) is one of the three
            glucose-6-phosphatase catalytic-subunit-encoding genes in human:
            G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the
            hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate
            and is a key enzyme in glucose homeostasis, functioning in
            gluconeogenesis and glycogenolysis. Mutations in this gene cause
            glycogen storage disease type I (GSD1). This disease, also known as
            von Gierke disease, is a metabolic disorder characterized by severe
            hypoglycemia associated with the accumulation of glycogen and fat
            in the liver and kidneys.[provided by RefSeq, Feb 2011].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: U01120.1, SRR5189664.10415.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2144835
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000253801.7/
                                                ENSP00000253801.1
            RefSeq Select criteria           :: based on conservation,
                                                expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-651               U01120.1           2-652
            652-3979            AC016889.28        176538-179865
            3980-4159           AW614228.1         9-188               c
            4160-4164           AC016889.28        180046-180050
FEATURES             Location/Qualifiers
     source          1..4164
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     gene            1..4164
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
                     /note="glucose-6-phosphatase catalytic subunit 1"
                     /db_xref="GeneID:2538"
                     /db_xref="HGNC:HGNC:4056"
                     /db_xref="MIM:613742"
     exon            1..308
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
                     /inference="alignment:Splign:2.1.0"
     CDS             79..1152
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
                     /EC_number="3.1.3.9"
                     /note="isoform 1 is encoded by transcript variant 1;
                     G-6-Pase; G6Pase-alpha; glucose-6-phosphatase alpha"
                     /codon_start=1
                     /product="glucose-6-phosphatase catalytic subunit 1
                     isoform 1"
                     /protein_id="NP_000142.2"
                     /db_xref="CCDS:CCDS11446.1"
                     /db_xref="GeneID:2538"
                     /db_xref="HGNC:HGNC:4056"
                     /db_xref="MIM:613742"
                     /translation="MEEGMNVLHDFGIQSTHYLQVNYQDSQDWFILVSVIADLRNAFY
                     VLFPIWFHLQEAVGIKLLWVAVIGDWLNLVFKWILFGQRPYWWVLDTDYYSNTSVPLI
                     KQFPVTCETGPGSPSGHAMGTAGVYYVMVTSTLSIFQGKIKPTYRFRCLNVILWLGFW
                     AVQLNVCLSRIYLAAHFPHQVVAGVLSGIAVAETFSHIHSIYNASLKKYFLITFFLFS
                     FAIGFYLLLKGLGVDLLWTLEKAQRWCEQPEWVHIDTTPFASLLKNLGTLFGLGLALN
                     SSMYRESCKGKLSKWLPFRLSSIVASLVLLHVFDSLKPPSQVELVFYVLSFCKSAVVP
                     LASVSVIPYCLAQVLGQPHKKSL"
     exon            309..418
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
                     /inference="alignment:Splign:2.1.0"
     exon            419..524
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
                     /inference="alignment:Splign:2.1.0"
     exon            525..640
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
                     /inference="alignment:Splign:2.1.0"
     exon            641..4164
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2900
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
                     /note="major polyA site"
     regulatory      3030..3035
                     /regulatory_class="polyA_signal_sequence"
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
                     /note="hexamer: ATTAAA"
     regulatory      3053..3058
                     /regulatory_class="polyA_signal_sequence"
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
                     /note="hexamer: AATAAA"
     polyA_site      3054
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
                     /note="major polyA site"
     polyA_site      3076
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
     regulatory      4133..4138
                     /regulatory_class="polyA_signal_sequence"
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
                     /note="hexamer: GATAAA"
     polyA_site      4164
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
ORIGIN      
        1 agcagagcaa tcaccaccaa gcctggaata actgcaaggg ctctgctgac atcttcctga
       61 ggtgccaagg aaatgaggat ggaggaagga atgaatgttc tccatgactt tgggatccag
      121 tcaacacatt acctccaggt gaattaccaa gactcccagg actggttcat cttggtgtcc
      181 gtgatcgcag acctcaggaa tgccttctac gtcctcttcc ccatctggtt ccatcttcag
      241 gaagctgtgg gcattaaact cctttgggta gctgtgattg gagactggct caacctcgtc
      301 tttaagtgga ttctctttgg acagcgtcca tactggtggg ttttggatac tgactactac
      361 agcaacactt ccgtgcccct gataaagcag ttccctgtaa cctgtgagac tggaccaggg
      421 agcccctctg gccatgccat gggcacagca ggtgtatact acgtgatggt cacatctact
      481 ctttccatct ttcagggaaa gataaagccg acctacagat ttcggtgctt gaatgtcatt
      541 ttgtggttgg gattctgggc tgtgcagctg aatgtctgtc tgtcacgaat ctaccttgct
      601 gctcattttc ctcatcaagt tgttgctgga gtcctgtcag gcattgctgt tgcagaaact
      661 ttcagccaca tccacagcat ctataatgcc agcctcaaga aatattttct cattaccttc
      721 ttcctgttca gcttcgccat cggattttat ctgctgctca agggactggg tgtagacctc
      781 ctgtggactc tggagaaagc ccagaggtgg tgcgagcagc cagaatgggt ccacattgac
      841 accacaccct ttgccagcct cctcaagaac ctgggcacgc tctttggcct ggggctggct
      901 ctcaactcca gcatgtacag ggagagctgc aaggggaaac tcagcaagtg gctcccattc
      961 cgcctcagct ctattgtagc ctccctcgtc ctcctgcacg tctttgactc cttgaaaccc
     1021 ccatcccaag tcgagctggt cttctacgtc ttgtccttct gcaagagtgc ggtagtgccc
     1081 ctggcatccg tcagtgtcat cccctactgc ctcgcccagg tcctgggcca gccgcacaag
     1141 aagtcgttgt aagagatgtg gagtcttcgg tgtttaaagt caacaaccat gccagggatt
     1201 gaggaggact actatttgaa gcaatgggca ctggtatttg gagcaagtga catgccatcc
     1261 attctgccgt cgtggaatta aatcacggat ggcagattgg agggtcgcct ggcttattcc
     1321 catgtgtgac tccagcctgc cctcagcaca gactctttca gatggaggtg ccatatcacg
     1381 tacaccatat gcaagtttcc cgccaggagg tcctcctctc tctacttgaa tactctcaca
     1441 agtagggagc tcactcccac tggaacagcc cattttatct ttgaatggtc ttctgccagc
     1501 ccattttgag gccagaggtg ctgtcagctc aggtggtcct cttttacaat cctaatcata
     1561 ttgggtaatg tttttgaaaa gctaatgaag ctattgagaa agacctgttg ctagaagttg
     1621 ggttgttctg gattttcccc tgaagactta cttattcttc cgtcacatat acaaaagcaa
     1681 gacttccagg tagggccagc tcacaagccc aggctggaga tcctaactga gaattttcta
     1741 cctgtgttca ttcttaccga gaaaaggaga aaggagctct gaatctgata ggaaaagaag
     1801 gctgcctaag gaggagtttt tagtatgtgg cgtatcatgc aagtgctatg ccaagccatg
     1861 tctaaatggc tttaattata tagtaatgca ctctcagtaa tgggggacca gcttaagtat
     1921 aattaataga tggttagtgg ggtaattctg cttctagtat tttttttact gtgcatacat
     1981 gttcatcgta tttccttgga tttctgaatg gctgcagtga cccagatatt gcactaggtc
     2041 aaaacattca ggtatagctg acatctcctc tatcacatta catcatcctc cttataagcc
     2101 cagctctgct ttttccagat tcttccactg gctccacatc caccccactg gatcttcaga
     2161 aggctagagg gcgactctgg tggtgctttt gtatgtttca attaggctct gaaatcttgg
     2221 gcaaaatgac aaggggaggg ccaggattcc tctctcaggt cactccagtg ttacttttaa
     2281 ttcctagagg gtaaatatga ctcctttctc tatcccaagc caaccaagag cacattctta
     2341 aaggaaaagt caacatcttc tctctttttt tttttttttg agacagggtc tcactatgtt
     2401 gcccaggctg ctcttgaatt cctgggctca agcagtcctc ccaccctacc acagcgtccc
     2461 gcgtagctgg gactacaggt gcaagccact atgtccagct agccaactcc tccttgcctg
     2521 cttttctttt tttttctttt tttgagacgg cgcacctatc acccaggctg gagtggagtg
     2581 gcacgatctt ggctcactgc aacctcttcc tcctggttca agcgattctc atgtctcagc
     2641 ctcctcagta gctaggacta ccggcgtgca ccaccatgcc aggctaattt ttatattttt
     2701 agaattttag aagagatggg atttcatcat gttggccagg ctggtctcga actcctgacc
     2761 tcaagtgatc cacctgcctt ggcctcccaa ggtgctagga ttacaggcat gagccaccgc
     2821 accgggccct ccttgcctgt ttttcaatct catctgatat gcagagtatt tctgccccac
     2881 ccacctaccc cccaaaaaaa gctgaagcct atttatttga aagtccttgt ttttgctact
     2941 aattatatag tataccatac attatcattc aaaacaacca tcctgctcat aacatctttg
     3001 aaaagaaaaa tatatatgtg cagtatttta ttaaagcaac attttattta agaataaagt
     3061 cttgttaatt actatatttt agatgcaatg tgatctgaag tttctaattc tggcccaact
     3121 aaatttctag ctctgtttcc ctaaacaaat aatttggttt ctctgtgcct gcattttccc
     3181 tttggagaag aaaagtgctc tctcttgagt tgaccgagag tcccattagg gatagggaga
     3241 cttaaatgca tccacagggg cacaggcaga gttgagcaca taaacggagg cccaaaatca
     3301 gcatagaacc agaaagattc agagttggcc aagaatgaac attggctacc agaccacaag
     3361 tcagcatgag ttgctctatg gcatcaaatt gcaacttgag agtagatggg cagggtcact
     3421 atcaaattaa gcaatcaggg cacacaagtt gcagtaacac aacaagacta ggccagctct
     3481 ggaatccagt aactcagtgt cagcaaggtt ttgggttata gttcaagaaa gtctaaacag
     3541 agccagtcac agcaccaagg aatgctcaag ggagctattg caggtttctc tgctaagaga
     3601 tttatttcat cctgggtgca gggttcgacc tccaaaggcc tcaaatcatc accgtatcaa
     3661 tggatttcct gagggtaagc tccgctattt cacacctgaa ctccggagtc tgtatattca
     3721 gggaagattg cattctccta ctggatttgg gctctcagag ggcgttgtgg gaaccaggcc
     3781 cctcacagaa tcaaatggtc ccaaccaggg agaaagaaaa tagtcttttt ttttttttta
     3841 atagagatgg gggtctcact atgctgccca ggctggtctt gaactcctgg gttcaagtga
     3901 tcctcctgcc tcagcctccc aaagtgctgg gattacagtg tgagccactg cgcttggcca
     3961 gaaatggttt tgatctgtct gaactgaacc ctactgctta ggcatagccc catccttgat
     4021 aatctatttg ctcccaagga ccaagtccaa gatccttaca agaaaggtct gccagaaagt
     4081 aaatactgcc cccactccct gaagtttatg aggttgataa gaaaacataa cagataaagt
     4141 ttattgagtg ctaactttat gcca
//
