LOCUS       NM_138387               1573 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens glucose-6-phosphatase catalytic subunit 3 (G6PC3),
            transcript variant 1, mRNA.
ACCESSION   NM_138387
VERSION     NM_138387.4
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 1573)
  AUTHORS   Hong,M., Wang,P., Shangguan,T., Li,G.L., Bian,R.P., He,W., Jiang,W.
            and Chen,J.P.
  TITLE     [Correction of the pathogenic mutation in the G6PC3 gene by adenine
            base editing in mutant embryos]
  JOURNAL   Zhonghua Xue Ye Xue Za Zhi 44 (4), 308-315 (2023)
   PUBMED   37357000
  REMARK    GeneRIF: [Correction of the pathogenic mutation in the G6PC3 gene
            by adenine base editing in mutant embryos].
REFERENCE   2  (bases 1 to 1573)
  AUTHORS   Velez-Tirado,N., Yamazaki-Nakashimada,M.A., Lopez Valentin,E.,
            Partida-Gaytan,A., Scheffler-Mendoza,S.C., Chaia Semerena,G.M.,
            Alvarez-Cardona,A., Suarez Gutierrez,M.A., Medina Torres,E.A.,
            Baeza Capetillo,P., Hirschmugl,T., Garncarz,W.,
            Espinosa-Padilla,S.E., Aguirre Hernandez,J., Klein,C., Boztug,K.
            and Lugo Reyes,S.O.
  TITLE     Severe congenital neutropenia due to G6PC3 deficiency: Case series
            of five patients and literature review
  JOURNAL   Scand J Immunol 95 (4), e13136 (2022)
   PUBMED   34964150
  REMARK    GeneRIF: Severe congenital neutropenia due to G6PC3 deficiency:
            Case series of five patients and literature review.
REFERENCE   3  (bases 1 to 1573)
  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   4  (bases 1 to 1573)
  AUTHORS   Lopez-Rodriguez,L., Svyryd,Y., Benitez-Alonso,E.O.,
            Rivero-Garcia,P., Luna-Munoz,L. and Mutchinick,O.M.
  TITLE     Severe Congenital Neutropenia Type 4: A Rare Disease Harboring a
            G6pc3 Gene Pathogenic Variant Particular to the Mexican Population
  JOURNAL   Rev Invest Clin 74 (6), 328-339 (2022)
   PUBMED   36546889
  REMARK    GeneRIF: Severe Congenital Neutropenia Type 4: A Rare Disease
            Harboring a G6pc3 Gene Pathogenic Variant Particular to the Mexican
            Population.
REFERENCE   5  (bases 1 to 1573)
  AUTHORS   Dai,R., Lv,G., Li,W., Tang,W., Chen,J., Liu,Q., Yang,L., Zhang,M.,
            Tian,Z., Zhou,L., Yan,X., Wang,Y., Ding,Y., An,Y., Zhang,Z.,
            Tang,X. and Zhao,X.
  TITLE     Altered Functions of Neutrophils in Two Chinese Patients With
            Severe Congenital Neutropenia Type 4 Caused by G6PC3 Mutations
  JOURNAL   Front Immunol 12, 699743 (2021)
   PUBMED   34305938
  REMARK    GeneRIF: Altered Functions of Neutrophils in Two Chinese Patients
            With Severe Congenital Neutropenia Type 4 Caused by G6PC3
            Mutations.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1573)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   7  (bases 1 to 1573)
  AUTHORS   Ghosh,A., Shieh,J.J., Pan,C.J. and Chou,J.Y.
  TITLE     Histidine 167 is the phosphate acceptor in
            glucose-6-phosphatase-beta forming a phosphohistidine enzyme
            intermediate during catalysis
  JOURNAL   J Biol Chem 279 (13), 12479-12483 (2004)
   PUBMED   14718531
REFERENCE   8  (bases 1 to 1573)
  AUTHORS   Guionie,O., Clottes,E., Stafford,K. and Burchell,A.
  TITLE     Identification and characterisation of a new human
            glucose-6-phosphatase isoform
  JOURNAL   FEBS Lett 551 (1-3), 159-164 (2003)
   PUBMED   12965222
  REMARK    GeneRIF: Molecular cloning and characterization of G6PC3, a new
            glucose-6-phosphatase isoform.
REFERENCE   9  (bases 1 to 1573)
  AUTHORS   Martin,C.C., Oeser,J.K., Svitek,C.A., Hunter,S.I., Hutton,J.C. and
            O'Brien,R.M.
  TITLE     Identification and characterization of a human cDNA and gene
            encoding a ubiquitously expressed glucose-6-phosphatase catalytic
            subunit-related protein
  JOURNAL   J Mol Endocrinol 29 (2), 205-222 (2002)
   PUBMED   12370122
  REMARK    GeneRIF: ubiquitously expressed G6Pase catalytic subunit-related
            protein; has a similar predicted transmembrane topology and
            conservation of many catalytically important residues with the
            G6Pase catalytic subunit (UGRP)
REFERENCE   10 (bases 1 to 1573)
  AUTHORS   Banka,S.
  TITLE     G6PC3 Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   25879134
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC023855.15.
            
            On Jun 2, 2020 this sequence version replaced NM_138387.3.
            
            Summary: This gene encodes the catalytic subunit of
            glucose-6-phosphatase (G6Pase). G6Pase is located in the
            endoplasmic reticulum (ER) and catalyzes the hydrolysis of
            glucose-6-phosphate to glucose and phosphate in the last step of
            the gluconeogenic and glycogenolytic pathways. Mutations in this
            gene result in autosomal recessive severe congenital neutropenia.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Feb 2016].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: BC021574.1, SRR11853563.14282.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000269097.9/ ENSP00000269097.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-449               AC023855.15        64323-64771         c
            450-556             AC023855.15        61240-61346         c
            557-647             AC023855.15        60736-60826         c
            648-766             AC023855.15        60419-60537         c
            767-908             AC023855.15        60055-60196         c
            909-1573            AC023855.15        59162-59826         c
FEATURES             Location/Qualifiers
     source          1..1573
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     gene            1..1573
                     /gene="G6PC3"
                     /gene_synonym="SCN4; UGRP"
                     /note="glucose-6-phosphatase catalytic subunit 3"
                     /db_xref="GeneID:92579"
                     /db_xref="HGNC:HGNC:24861"
                     /db_xref="MIM:611045"
     exon            1..449
                     /gene="G6PC3"
                     /gene_synonym="SCN4; UGRP"
                     /inference="alignment:Splign:2.1.0"
     CDS             232..1272
                     /gene="G6PC3"
                     /gene_synonym="SCN4; UGRP"
                     /EC_number="3.1.3.9"
                     /note="isoform 1 is encoded by transcript variant 1;
                     G6Pase-beta; ubiquitously expressed G6Pase catalytic
                     subunit-related protein; glucose-6-phosphatase 3; glucose
                     6 phosphatase, catalytic, 3; G6Pase 3; G-6-Pase 3;
                     ubiquitous glucose-6-phosphatase catalytic subunit-related
                     protein"
                     /codon_start=1
                     /product="glucose-6-phosphatase 3 isoform 1"
                     /protein_id="NP_612396.1"
                     /db_xref="CCDS:CCDS11476.1"
                     /db_xref="GeneID:92579"
                     /db_xref="HGNC:HGNC:24861"
                     /db_xref="MIM:611045"
                     /translation="MESTLGAGIVIAEALQNQLAWLENVWLWITFLGDPKILFLFYFP
                     AAYYASRRVGIAVLWISLITEWLNLIFKWFLFGDRPFWWVHESGYYSQAPAQVHQFPS
                     SCETGPGSPSGHCMITGAALWPIMTALSSQVATRARSRWVRVMPSLAYCTFLLAVGLS
                     RIFILAHFPHQVLAGLITGAVLGWLMTPRVPMERELSFYGLTALALMLGTSLIYWTLF
                     TLGLDLSWSISLAFKWCERPEWIHVDSRPFASLSRDSGAALGLGIALHSPCYAQVRRA
                     QLGNGQKIACLVLAMGLLGPLDWLGHPPQISLFYIFNFLKYTLWPCLVLALVPWAVHM
                     FSAQEAPPIHSS"
     exon            450..556
                     /gene="G6PC3"
                     /gene_synonym="SCN4; UGRP"
                     /inference="alignment:Splign:2.1.0"
     exon            557..647
                     /gene="G6PC3"
                     /gene_synonym="SCN4; UGRP"
                     /inference="alignment:Splign:2.1.0"
     exon            648..766
                     /gene="G6PC3"
                     /gene_synonym="SCN4; UGRP"
                     /inference="alignment:Splign:2.1.0"
     exon            767..908
                     /gene="G6PC3"
                     /gene_synonym="SCN4; UGRP"
                     /inference="alignment:Splign:2.1.0"
     exon            909..1573
                     /gene="G6PC3"
                     /gene_synonym="SCN4; UGRP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1551..1556
                     /regulatory_class="polyA_signal_sequence"
                     /gene="G6PC3"
                     /gene_synonym="SCN4; UGRP"
                     /note="hexamer: AATAAA"
     polyA_site      1573
                     /gene="G6PC3"
                     /gene_synonym="SCN4; UGRP"
                     /note="major polyA site"
ORIGIN      
        1 agtagggagg aaaaccggag gagagcgcag gaggaaacag taccggctgg aggccggtct
       61 tgcaggagcg ggggactgct gggggcgggg cttggtggtg accgctggcg gggcggggcc
      121 tggggctcag aggggtgggc tttggagatc agagggtcga cgctgcttcg ttgcctggac
      181 tctggtttcc gccctggagc aagccggggc ctggtcggca gctgggccgc catggagtcc
      241 acgctgggcg cgggcatcgt gatagccgag gcgctacaga accagctagc ctggctggag
      301 aacgtgtggc tctggatcac ctttctgggc gatcccaaga tcctctttct gttctacttc
      361 cccgcggcct actacgcctc ccgccgtgtg ggcatcgcgg tgctctggat cagcctcatc
      421 accgagtggc tcaacctcat cttcaagtgg tttctttttg gagacaggcc cttttggtgg
      481 gtccatgagt ctggttacta cagccaggct ccagcccagg ttcaccagtt cccctcttct
      541 tgtgagactg gtccaggcag cccttctgga cactgcatga tcacaggagc agccctctgg
      601 cccataatga cggccctgtc ttcgcaggtg gccactcggg cccgcagccg ctgggtaagg
      661 gtgatgccta gcctggctta ttgcaccttc cttttggcgg ttggcttgtc gcgaatcttc
      721 atcttagcac atttccctca ccaggtgctg gctggcctaa taactggcgc tgtcctgggc
      781 tggctgatga ctccccgagt gcctatggag cgggagctaa gcttctatgg gttgactgca
      841 ctggccctca tgctaggcac cagcctcatc tattggaccc tctttacact gggcctggat
      901 ctttcttggt ccatcagcct agccttcaag tggtgtgagc ggcctgagtg gatacacgtg
      961 gatagccggc cctttgcctc cctgagccgt gactcagggg ctgccctggg cctgggcatt
     1021 gccttgcact ctccctgcta tgcccaggtg cgtcgggcac agctgggaaa tggccagaag
     1081 atagcctgcc ttgtgctggc catggggctg ctgggccccc tggactggct gggccacccc
     1141 cctcagatca gcctcttcta cattttcaat ttcctcaagt acaccctctg gccatgccta
     1201 gtcctggccc tcgtgccctg ggcagtgcac atgttcagtg cccaggaagc accgcccatc
     1261 cactcttcct gacttcttgt gtgcctccct ttcctttccc tcccacaaag ccaacactct
     1321 gtgaccacca cactccagga ggcagcccca tccccttcca gcccctaagt aggccctccc
     1381 ctccctaaat ctgcttccgc accacctggt cttagcccca aagatgggcc ttctctctcc
     1441 cagataagtt ggtcctccct ctgcctttcc tctcaagccc ccaaagagca aaggcaacag
     1501 caagaccagc gggttcttgc aacactgtga ggggcagcca gggcggcccc aataaagccc
     1561 ttgaatactt tga
//
