LOCUS       NM_002631               2268 bp    mRNA    linear   PRI 11-SEP-2024
DEFINITION  Homo sapiens phosphogluconate dehydrogenase (PGD), transcript
            variant 1, mRNA.
ACCESSION   NM_002631
VERSION     NM_002631.4
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 2268)
  AUTHORS   Wu,J., Chen,Y., Zou,H., Xu,K., Hou,J., Wang,M., Tian,S., Gao,M.,
            Ren,Q., Sun,C., Lu,S., Wang,Q., Shu,Y., Wang,S. and Wang,X.
  TITLE     6-Phosphogluconate dehydrogenase promotes glycolysis and fatty acid
            synthesis by inhibiting the AMPK pathway in lung adenocarcinoma
            cells
  JOURNAL   Cancer Lett 601, 217177 (2024)
   PUBMED   39179096
  REMARK    GeneRIF: 6-Phosphogluconate dehydrogenase promotes glycolysis and
            fatty acid synthesis by inhibiting the AMPK pathway in lung
            adenocarcinoma cells.
REFERENCE   2  (bases 1 to 2268)
  AUTHORS   Qiao,R., Wei,M., Chen,H., Zhang,X., Zhang,J., Gao,L., Ma,H.,
            Wang,Y. and Li,L.
  TITLE     Critical Role of 6-Phosphogluconate Dehydrogenase in TAp73-Mediated
            Cancer Cell Proliferation
  JOURNAL   Mol Cancer Res 21 (8), 825-835 (2023)
   PUBMED   37071129
  REMARK    GeneRIF: Critical Role of 6-Phosphogluconate Dehydrogenase in
            TAp73-Mediated Cancer Cell Proliferation.
REFERENCE   3  (bases 1 to 2268)
  AUTHORS   Cao,J., Sun,X., Zhang,X. and Chen,D.
  TITLE     6PGD Upregulation is Associated with Chemo- and Immuno-Resistance
            of Renal Cell Carcinoma via AMPK Signaling-Dependent NADPH-Mediated
            Metabolic Reprograming
  JOURNAL   Am J Med Sci 360 (3), 279-286 (2020)
   PUBMED   32829780
  REMARK    GeneRIF: 6PGD Upregulation is Associated with Chemo- and
            Immuno-Resistance of Renal Cell Carcinoma via AMPK
            Signaling-Dependent NADPH-Mediated Metabolic Reprograming.
REFERENCE   4  (bases 1 to 2268)
  AUTHORS   Xu,K., He,Z., Chen,M., Wang,N., Zhang,D., Yang,L., Xu,Z. and Xu,H.
  TITLE     HIF-1alpha regulates cellular metabolism, and Imatinib resistance
            by targeting phosphogluconate dehydrogenase in gastrointestinal
            stromal tumors
  JOURNAL   Cell Death Dis 11 (7), 586 (2020)
   PUBMED   32719331
  REMARK    GeneRIF: HIF-1alpha regulates cellular metabolism, and Imatinib
            resistance by targeting phosphogluconate dehydrogenase in
            gastrointestinal stromal tumors.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2268)
  AUTHORS   Guo,H., Xiang,Z., Zhang,Y. and Sun,D.
  TITLE     Inhibiting 6-phosphogluconate dehydrogenase enhances chemotherapy
            efficacy in cervical cancer via AMPK-independent inhibition of RhoA
            and Rac1
  JOURNAL   Clin Transl Oncol 21 (4), 404-411 (2019)
   PUBMED   30182212
  REMARK    GeneRIF: 6-phosphogluconate dehydrogenase (6PGD) is aberrantly
            upregulated and activated in cervical cancer cells and patient
            tissues compared to normal counterparts. 6PGD inhibition decreases
            growth and migration, and enhances chemosensitivity in cervical
            cancer. Inhibition of 6PGD activates AMP-activated protein kinase
            and decreases rhoA GTP-binding protein and rac1 GTP-binding protein
            activities.
REFERENCE   6  (bases 1 to 2268)
  AUTHORS   Komatsu,N., Kido,A., Kimura,Y. and Oya,M.
  TITLE     PGD phenotyping in bloodstains, organ tissues, dental pulps and
            hair roots by isoelectric focusing
  JOURNAL   Forensic Sci Int 48 (2), 185-194 (1990)
   PUBMED   2283141
REFERENCE   7  (bases 1 to 2268)
  AUTHORS   Beutler,E. and Kuhl,W.
  TITLE     Limiting role of 6-phosphogluconolactonase in erythrocyte hexose
            monophosphate pathway metabolism
  JOURNAL   J Lab Clin Med 106 (5), 573-577 (1985)
   PUBMED   3932573
REFERENCE   8  (bases 1 to 2268)
  AUTHORS   Beutler,E., Kuhl,W. and Gelbart,T.
  TITLE     6-Phosphogluconolactonase deficiency, a hereditary erythrocyte
            enzyme deficiency: possible interaction with glucose-6-phosphate
            dehydrogenase deficiency
  JOURNAL   Proc Natl Acad Sci U S A 82 (11), 3876-3878 (1985)
   PUBMED   3858849
REFERENCE   9  (bases 1 to 2268)
  AUTHORS   Povey,S., Morton,N.E. and Sherman,S.L.
  TITLE     Report of the Committee on the Genetic Constitution of Chromosomes
            1 and 2
  JOURNAL   Cytogenet Cell Genet 40 (1-4), 67-106 (1985)
   PUBMED   3864603
REFERENCE   10 (bases 1 to 2268)
  AUTHORS   Douglas,G.R., McAlpine,P.J. and Hamerton,J.L.
  TITLE     Regional localization of loci for human PGM and 6PGD on human
            chromosome one by use of hybrids of Chinese hamster-human somatic
            cells
  JOURNAL   Proc Natl Acad Sci U S A 70 (10), 2737-2740 (1973)
   PUBMED   4517931
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY049516.1, BC000368.2,
            AL139424.21 and HY245069.1.
            
            On Nov 22, 2018 this sequence version replaced NM_002631.3.
            
            Summary: 6-phosphogluconate dehydrogenase is the second
            dehydrogenase in the pentose phosphate shunt. Deficiency of this
            enzyme is generally asymptomatic, and the inheritance of this
            disorder is autosomal dominant. Hemolysis results from combined
            deficiency of 6-phosphogluconate dehydrogenase and
            6-phosphogluconolactonase suggesting a synergism of the two
            enzymopathies. Several transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Jan
            2015].
            
            Transcript Variant: This variant (1) encodes the longest 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 :: SRR1163657.3268.1,
                                           SRR5189661.73809.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000270776.13/ ENSP00000270776.8
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                HY049516.1         74-90
            18-1895             BC000368.2         1-1878
            1896-2170           AL139424.21        65168-65442
            2171-2268           HY245069.1         30-127              c
FEATURES             Location/Qualifiers
     source          1..2268
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.22"
     gene            1..2268
                     /gene="PGD"
                     /gene_synonym="6PGD"
                     /note="phosphogluconate dehydrogenase"
                     /db_xref="GeneID:5226"
                     /db_xref="HGNC:HGNC:8891"
                     /db_xref="MIM:172200"
     exon            1..62
                     /gene="PGD"
                     /gene_synonym="6PGD"
                     /inference="alignment:Splign:2.1.0"
     CDS             55..1506
                     /gene="PGD"
                     /gene_synonym="6PGD"
                     /EC_number="1.1.1.44"
                     /note="isoform 1 is encoded by transcript variant 1;
                     6-phosphogluconate dehydrogenase, decarboxylating"
                     /codon_start=1
                     /product="6-phosphogluconate dehydrogenase,
                     decarboxylating isoform 1"
                     /protein_id="NP_002622.2"
                     /db_xref="CCDS:CCDS113.1"
                     /db_xref="GeneID:5226"
                     /db_xref="HGNC:HGNC:8891"
                     /db_xref="MIM:172200"
                     /translation="MAQADIALIGLAVMGQNLILNMNDHGFVVCAFNRTVSKVDDFLA
                     NEAKGTKVVGAQSLKEMVSKLKKPRRIILLVKAGQAVDDFIEKLVPLLDTGDIIIDGG
                     NSEYRDTTRRCRDLKAKGILFVGSGVSGGEEGARYGPSLMPGGNKEAWPHIKTIFQGI
                     AAKVGTGEPCCDWVGDEGAGHFVKMVHNGIEYGDMQLICEAYHLMKDVLGMAQDEMAQ
                     AFEDWNKTELDSFLIEITANILKFQDTDGKHLLPKIRDSAGQKGTGKWTAISALEYGV
                     PVTLIGEAVFARCLSSLKDERIQASKKLKGPQKFQFDGDKKSFLEDIRKALYASKIIS
                     YAQGFMLLRQAATEFGWTLNYGGIALMWRGGCIIRSVFLGKIKDAFDRNPELQNLLLD
                     DFFKSAVENCQDSWRRAVSTGVQAGIPMPCFTTALSFYDGYRHEMLPASLIQAQRDYF
                     GAHTYELLAKPGQFIHTNWTGHGGTVSSSSYNA"
     exon            63..138
                     /gene="PGD"
                     /gene_synonym="6PGD"
                     /inference="alignment:Splign:2.1.0"
     exon            139..318
                     /gene="PGD"
                     /gene_synonym="6PGD"
                     /inference="alignment:Splign:2.1.0"
     exon            319..384
                     /gene="PGD"
                     /gene_synonym="6PGD"
                     /inference="alignment:Splign:2.1.0"
     exon            385..503
                     /gene="PGD"
                     /gene_synonym="6PGD"
                     /inference="alignment:Splign:2.1.0"
     exon            504..573
                     /gene="PGD"
                     /gene_synonym="6PGD"
                     /inference="alignment:Splign:2.1.0"
     exon            574..708
                     /gene="PGD"
                     /gene_synonym="6PGD"
                     /inference="alignment:Splign:2.1.0"
     exon            709..898
                     /gene="PGD"
                     /gene_synonym="6PGD"
                     /inference="alignment:Splign:2.1.0"
     exon            899..1029
                     /gene="PGD"
                     /gene_synonym="6PGD"
                     /inference="alignment:Splign:2.1.0"
     exon            1030..1163
                     /gene="PGD"
                     /gene_synonym="6PGD"
                     /inference="alignment:Splign:2.1.0"
     exon            1164..1263
                     /gene="PGD"
                     /gene_synonym="6PGD"
                     /inference="alignment:Splign:2.1.0"
     exon            1264..1386
                     /gene="PGD"
                     /gene_synonym="6PGD"
                     /inference="alignment:Splign:2.1.0"
     exon            1387..2268
                     /gene="PGD"
                     /gene_synonym="6PGD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1880..1885
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PGD"
                     /gene_synonym="6PGD"
                     /note="hexamer: AATAAA"
     polyA_site      1901
                     /gene="PGD"
                     /gene_synonym="6PGD"
     regulatory      2246..2251
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PGD"
                     /gene_synonym="6PGD"
                     /note="hexamer: ATTAAA"
     polyA_site      2268
                     /gene="PGD"
                     /gene_synonym="6PGD"
                     /note="major polyA site"
ORIGIN      
        1 ccctcactcg tcctccgcgc gtcgccgctc ttcggttctg ctctgtccgc cgccatggcc
       61 caagctgaca tcgcgctgat cggattggcc gtcatgggcc agaacttaat tctgaacatg
      121 aatgaccacg gctttgtggt ctgtgctttt aataggactg tctccaaagt tgatgatttc
      181 ttggccaatg aggcaaaggg aaccaaagtg gtgggtgccc agtccctgaa agagatggtc
      241 tccaagctga agaagccccg gcggatcatc ctcctggtga aggctgggca agctgtggat
      301 gatttcatcg agaaattggt accattgttg gatactggtg acatcatcat tgacggagga
      361 aattctgaat atagggacac cacaagacgg tgccgagacc tcaaggccaa gggaatttta
      421 tttgtgggga gcggagtcag tggtggagag gaaggggccc ggtatggccc atcgctcatg
      481 ccaggaggga acaaagaagc gtggccccac atcaagacca tcttccaagg cattgctgca
      541 aaagtgggaa ctggagaacc ctgctgtgac tgggtgggag atgagggagc aggccacttc
      601 gtgaagatgg tgcacaacgg gatagagtat ggggacatgc agctgatctg tgaggcatac
      661 cacctgatga aagacgtgct gggcatggcg caggacgaga tggcccaggc ctttgaggat
      721 tggaataaga cagagctaga ctcattcctg attgaaatca cagccaatat tctcaagttc
      781 caagacaccg atggcaaaca cctgctgcca aagatcaggg acagcgcggg gcagaagggc
      841 acagggaagt ggaccgccat ctccgccctg gaatacggcg tacccgtcac cctcattgga
      901 gaagctgtct ttgctcggtg cttatcatct ctgaaggatg agagaattca agctagcaaa
      961 aagctgaagg gtccccagaa gttccagttt gatggtgata agaaatcatt cctggaggac
     1021 attcggaagg cactctacgc ttccaagatc atctcttacg ctcaaggctt tatgctgcta
     1081 aggcaggcag ccaccgagtt tggctggact ctcaattatg gtggcatcgc cctgatgtgg
     1141 agagggggct gcatcattag aagtgtattc ctaggaaaga taaaggatgc atttgatcga
     1201 aacccggaac ttcagaacct cctactggac gacttcttta agtcagctgt tgaaaactgc
     1261 caggactcct ggcggcgggc agtcagcact ggggtccagg ctggcattcc catgccctgt
     1321 tttaccactg ccctctcctt ctatgacggg tacagacatg agatgcttcc agccagcctc
     1381 atccaggctc agcgggatta cttcggggct cacacctatg aactcttggc caaaccaggg
     1441 cagtttatcc acaccaactg gacaggccat ggtggcaccg tgtcatcctc gtcatacaat
     1501 gcctgatcat gctgctcctg tcaccctcca cgattccaca gaccaggaca ttccatgtgc
     1561 ctcatggcac tgccacctgg ccctttgccc tattttctgt tcagtttttt aaaagtgttg
     1621 taagagactc ctgaggaaga cacacagttt atttgtaaag tagctctgtg agagccacca
     1681 tgccctctgc ccttgcctct tgggactgac caggagctgc tcatgtgcgt gagagtggga
     1741 accatctcct tgcggcagtg gcttccgcgt gccccgtgtg ctggtgcggt tcccatcacg
     1801 cagacaggaa gggtgtttgc gcactctgat caactggaac ctctgtatca tgcggctgaa
     1861 ttcccttttt cctttactca ataaaagcta catcagactg atgctctttc tccagattct
     1921 tagtctcacc tcggccacat ggagccatta tccccattgg cagaaagatt tttctttaaa
     1981 aaaaaagact agaataacac aagaaaccac atttaggatt atgcttcact cagaggaggc
     2041 aggcagggag gacacaccag gggctttaat acactgggca tgttttcttt ctccaattgg
     2101 gcaatgggta catggacgtt cactgtaacg tgctttttct ttcgtctttt tttttttttt
     2161 tttttttttt gctcctggca agctgtgcgt gacattcttt atggcttttt gtatgtcaaa
     2221 tacttcatac taaactttct agagaattaa actttaatga tgggctca
//
