LOCUS       NM_001360016            2223 bp    mRNA    linear   PRI 04-DEC-2024
DEFINITION  Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript
            variant 3, mRNA.
ACCESSION   NM_001360016
VERSION     NM_001360016.2
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 2223)
  AUTHORS   Cao,S., Guo,J., Zhu,D., Sun,Z., Liu,L., Zhang,Y., Maratbek,S.,
            Wang,Z., Zhang,J., Li,W., Ding,J., Deng,X. and Zhang,H.
  TITLE     Brucella induced upregulation of NO promote macrophages glycolysis
            through the NF-kappaB/G6PD pathway
  JOURNAL   Int Immunopharmacol 142 (Pt A), 113038 (2024)
   PUBMED   39276450
  REMARK    GeneRIF: Brucella induced upregulation of NO promote macrophages
            glycolysis through the NF-kappaB/G6PD pathway.
REFERENCE   2  (bases 1 to 2223)
  AUTHORS   Jakhan,J., Kojom Foko,L.P., Narang,G. and Singh,V.
  TITLE     Glucose-6-phosphate Dehydrogenase Variants: Analysing in Indian
            Plasmodium vivax Patients
  JOURNAL   Acta Parasitol 69 (3), 1522-1529 (2024)
   PUBMED   39164542
  REMARK    GeneRIF: Glucose-6-phosphate Dehydrogenase Variants: Analysing in
            Indian Plasmodium vivax Patients.
REFERENCE   3  (bases 1 to 2223)
  AUTHORS   Breeyear,J.H., Hellwege,J.N., Schroeder,P.H., House,J.S.,
            Poisner,H.M., Mitchell,S.L., Charest,B., Khakharia,A., Basnet,T.B.,
            Halladay,C.W., Reaven,P.D., Meigs,J.B., Rhee,M.K., Sun,Y.,
            Lynch,M.G., Bick,A.G., Wilson,O.D., Hung,A.M., Nealon,C.L.,
            Iyengar,S.K., Rotroff,D.M., Buse,J.B., Leong,A., Mercader,J.M.,
            Sobrin,L., Brantley,M.A. Jr., Peachey,N.S., Motsinger-Reif,A.A.,
            Wilson,P.W., Sun,Y.V., Giri,A., Phillips,L.S. and Edwards,T.L.
  CONSRTM   VA Million Veteran Program
  TITLE     Adaptive selection at G6PD and disparities in diabetes
            complications
  JOURNAL   Nat Med 30 (9), 2480-2488 (2024)
   PUBMED   38918629
  REMARK    GeneRIF: Adaptive selection at G6PD and disparities in diabetes
            complications.
REFERENCE   4  (bases 1 to 2223)
  AUTHORS   Shah,S.S., Stone,E.F., Francis,R.O. and Karafin,M.S.
  TITLE     The global role of G6PD in infection and immunity
  JOURNAL   Front Immunol 15, 1393213 (2024)
   PUBMED   38938571
  REMARK    GeneRIF: The global role of G6PD in infection and immunity.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2223)
  AUTHORS   Chang,Y.L., Nfor,O.N., Chou,Y.H., Hsiao,C.H., Zhong,J.H.,
            Huang,C.N. and Liaw,Y.P.
  TITLE     Risk of diabetes mellitus based on the interactive association
            between G6PD rs72554664 polymorphism and sex in Taiwan Biobank
            individuals
  JOURNAL   Sci Rep 14 (1), 12802 (2024)
   PUBMED   38834682
  REMARK    GeneRIF: Risk of diabetes mellitus based on the interactive
            association between G6PD rs72554664 polymorphism and sex in Taiwan
            Biobank individuals.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2223)
  AUTHORS   Beutler,E., Westwood,B., Prchal,J.T., Vaca,G., Bartsocas,C.S. and
            Baronciani,L.
  TITLE     New glucose-6-phosphate dehydrogenase mutations from various ethnic
            groups
  JOURNAL   Blood 80 (1), 255-256 (1992)
   PUBMED   1611091
REFERENCE   7  (bases 1 to 2223)
  AUTHORS   Ahluwalia,A., Corcoran,C.M., Vulliamy,T.J., Ishwad,C.S.,
            Naidu,J.M., Argusti,A., Stevens,D.J., Mason,P.J. and Luzzatto,L.
  TITLE     G6PD Kalyan and G6PD Kerala; two deficient variants in India caused
            by the same 317 Glu-->Lys mutation
  JOURNAL   Hum Mol Genet 1 (3), 209-210 (1992)
   PUBMED   1303182
REFERENCE   8  (bases 1 to 2223)
  AUTHORS   Perng,L.I., Chiou,S.S., Liu,T.C. and Chang,J.G.
  TITLE     A novel C to T substitution at nucleotide 1360 of cDNA which
            abolishes a natural Hha I site accounts for a new G6PD deficiency
            gene in Chinese
  JOURNAL   Hum Mol Genet 1 (3), 205 (1992)
   PUBMED   1303180
REFERENCE   9  (bases 1 to 2223)
  AUTHORS   Filosa,S., Calabro,V., Vallone,D., Poggi,V., Mason,P., Pagnini,D.,
            Alfinito,F., Rotoli,B., Martini,G., Luzzatto,L. et al.
  TITLE     Molecular basis of chronic non-spherocytic haemolytic anaemia: a
            new G6PD variant (393 Arg----His) with abnormal KmG6P and marked in
            vivo instability
  JOURNAL   Br J Haematol 80 (1), 111-116 (1992)
   PUBMED   1536798
REFERENCE   10 (bases 1 to 2223)
  AUTHORS   Benatti,U., Morelli,A., Frascio,M., Melloni,E., Salamino,F.,
            Sparatore,B., Pontremoli,S. and De Flora,A.
  TITLE     Glucose 6-phosphate dehydrogenase activity in membranes of
            erythrocytes from normal individuals and subjects with
            Mediterranean G6PD deficiency
  JOURNAL   Biochem Biophys Res Commun 85 (4), 1318-1324 (1978)
   PUBMED   743300
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY078785.1 and BC000337.2.
            
            On Oct 27, 2018 this sequence version replaced NM_001360016.1.
            
            Summary: This gene encodes glucose-6-phosphate dehydrogenase. This
            protein is a cytosolic enzyme encoded by a housekeeping X-linked
            gene whose main function is to produce NADPH, a key electron donor
            in the defense against oxidizing agents and in reductive
            biosynthetic reactions. G6PD is remarkable for its genetic
            diversity. Many variants of G6PD, mostly produced from missense
            mutations, have been described with wide ranging levels of enzyme
            activity and associated clinical symptoms. G6PD deficiency may
            cause neonatal jaundice, acute hemolysis, or severe chronic
            non-spherocytic hemolytic anemia. Two transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the transcription
            from the strong CAGE cluster (p1@G6PD). The encoded protein
            (isoform b) reflects an additional coding region annotated on the
            same transcript based on CAGE data, and represents the use of a
            downstream in-frame start codon.
            
            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 :: SRR7346977.995047.1,
                                           SRR7346977.1244268.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000393562.10/ ENSP00000377192.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                HY078785.1         87-99
            14-2223             BC000337.2         1-2210
FEATURES             Location/Qualifiers
     source          1..2223
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..2223
                     /gene="G6PD"
                     /gene_synonym="CNSHA1; G6PD1"
                     /note="glucose-6-phosphate dehydrogenase"
                     /db_xref="GeneID:2539"
                     /db_xref="HGNC:HGNC:4057"
                     /db_xref="MIM:305900"
     exon            1..58
                     /gene="G6PD"
                     /gene_synonym="CNSHA1; G6PD1"
                     /inference="alignment:Splign:2.1.0"
     exon            59..186
                     /gene="G6PD"
                     /gene_synonym="CNSHA1; G6PD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             67..1614
                     /gene="G6PD"
                     /gene_synonym="CNSHA1; G6PD1"
                     /EC_number="1.1.1.49"
                     /note="isoform b is encoded by transcript variant 3;
                     glucose-6-phosphate 1-dehydrogenase; epididymis secretory
                     sperm binding protein"
                     /codon_start=1
                     /product="glucose-6-phosphate 1-dehydrogenase isoform b"
                     /protein_id="NP_001346945.1"
                     /db_xref="CCDS:CCDS44023.1"
                     /db_xref="GeneID:2539"
                     /db_xref="HGNC:HGNC:4057"
                     /db_xref="MIM:305900"
                     /translation="MAEQVALSRTQVCGILREELFQGDAFHQSDTHIFIIMGASGDLA
                     KKKIYPTIWWLFRDGLLPENTFIVGYARSRLTVADIRKQSEPFFKATPEEKLKLEDFF
                     ARNSYVAGQYDDAASYQRLNSHMNALHLGSQANRLFYLALPPTVYEAVTKNIHESCMS
                     QIGWNRIIVEKPFGRDLQSSDRLSNHISSLFREDQIYRIDHYLGKEMVQNLMVLRFAN
                     RIFGPIWNRDNIACVILTFKEPFGTEGRGGYFDEFGIIRDVMQNHLLQMLCLVAMEKP
                     ASTNSDDVRDEKVKVLKCISEVQANNVVLGQYVGNPDGEGEATKGYLDDPTVPRGSTT
                     ATFAAVVLYVENERWDGVPFILRCGKALNERKAEVRLQFHDVAGDIFHQQCKRNELVI
                     RVQPNEAVYTKMMTKKPGMFFNPEESELDLTYGNRYKNVKLPDAYERLILDVFCGSQM
                     HFVRSDELREAWRIFTPLLHQIELEKPKPIPYIYGSRGPTEADELMKRVGFQYEGTYK
                     WVNPHKL"
     exon            187..224
                     /gene="G6PD"
                     /gene_synonym="CNSHA1; G6PD1"
                     /inference="alignment:Splign:2.1.0"
     exon            225..333
                     /gene="G6PD"
                     /gene_synonym="CNSHA1; G6PD1"
                     /inference="alignment:Splign:2.1.0"
     exon            334..551
                     /gene="G6PD"
                     /gene_synonym="CNSHA1; G6PD1"
                     /inference="alignment:Splign:2.1.0"
     exon            552..710
                     /gene="G6PD"
                     /gene_synonym="CNSHA1; G6PD1"
                     /inference="alignment:Splign:2.1.0"
     exon            711..836
                     /gene="G6PD"
                     /gene_synonym="CNSHA1; G6PD1"
                     /inference="alignment:Splign:2.1.0"
     exon            837..930
                     /gene="G6PD"
                     /gene_synonym="CNSHA1; G6PD1"
                     /inference="alignment:Splign:2.1.0"
     exon            931..1117
                     /gene="G6PD"
                     /gene_synonym="CNSHA1; G6PD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1118..1353
                     /gene="G6PD"
                     /gene_synonym="CNSHA1; G6PD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1354..1430
                     /gene="G6PD"
                     /gene_synonym="CNSHA1; G6PD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1431..1523
                     /gene="G6PD"
                     /gene_synonym="CNSHA1; G6PD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1524..2223
                     /gene="G6PD"
                     /gene_synonym="CNSHA1; G6PD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2205..2210
                     /regulatory_class="polyA_signal_sequence"
                     /gene="G6PD"
                     /gene_synonym="CNSHA1; G6PD1"
                     /note="hexamer: ATTAAA"
     polyA_site      2223
                     /gene="G6PD"
                     /gene_synonym="CNSHA1; G6PD1"
                     /note="major polyA site"
ORIGIN      
        1 ggaaacggtc gtacacttcg gggctgcgag cgcggagggc gacgacgacg aagcgcagac
       61 agcgtcatgg cagagcaggt ggccctgagc cggacccagg tgtgcgggat cctgcgggaa
      121 gagcttttcc agggcgatgc cttccatcag tcggatacac acatattcat catcatgggt
      181 gcatcgggtg acctggccaa gaagaagatc taccccacca tctggtggct gttccgggat
      241 ggccttctgc ccgaaaacac cttcatcgtg ggctatgccc gttcccgcct cacagtggct
      301 gacatccgca aacagagtga gcccttcttc aaggccaccc cagaggagaa gctcaagctg
      361 gaggacttct ttgcccgcaa ctcctatgtg gctggccagt acgatgatgc agcctcctac
      421 cagcgcctca acagccacat gaatgccctc cacctggggt cacaggccaa ccgcctcttc
      481 tacctggcct tgcccccgac cgtctacgag gccgtcacca agaacattca cgagtcctgc
      541 atgagccaga taggctggaa ccgcatcatc gtggagaagc ccttcgggag ggacctgcag
      601 agctctgacc ggctgtccaa ccacatctcc tccctgttcc gtgaggacca gatctaccgc
      661 atcgaccact acctgggcaa ggagatggtg cagaacctca tggtgctgag atttgccaac
      721 aggatcttcg gccccatctg gaaccgggac aacatcgcct gcgttatcct caccttcaag
      781 gagccctttg gcactgaggg tcgcgggggc tatttcgatg aatttgggat catccgggac
      841 gtgatgcaga accacctact gcagatgctg tgtctggtgg ccatggagaa gcccgcctcc
      901 accaactcag atgacgtccg tgatgagaag gtcaaggtgt tgaaatgcat ctcagaggtg
      961 caggccaaca atgtggtcct gggccagtac gtggggaacc ccgatggaga gggcgaggcc
     1021 accaaagggt acctggacga ccccacggtg ccccgcgggt ccaccaccgc cacttttgca
     1081 gccgtcgtcc tctatgtgga gaatgagagg tgggatgggg tgcccttcat cctgcgctgc
     1141 ggcaaggccc tgaacgagcg caaggccgag gtgaggctgc agttccatga tgtggccggc
     1201 gacatcttcc accagcagtg caagcgcaac gagctggtga tccgcgtgca gcccaacgag
     1261 gccgtgtaca ccaagatgat gaccaagaag ccgggcatgt tcttcaaccc cgaggagtcg
     1321 gagctggacc tgacctacgg caacagatac aagaacgtga agctccctga cgcctatgag
     1381 cgcctcatcc tggacgtctt ctgcgggagc cagatgcact tcgtgcgcag cgacgagctc
     1441 cgtgaggcct ggcgtatttt caccccactg ctgcaccaga ttgagctgga gaagcccaag
     1501 cccatcccct atatttatgg cagccgaggc cccacggagg cagacgagct gatgaagaga
     1561 gtgggtttcc agtatgaggg cacctacaag tgggtgaacc cccacaagct ctgagccctg
     1621 ggcacccacc tccacccccg ccacggccac cctccttccc gccgcccgac cccgagtcgg
     1681 gaggactccg ggaccattga cctcagctgc acattcctgg ccccgggctc tggccaccct
     1741 ggcccgcccc tcgctgctgc tactacccga gcccagctac attcctcagc tgccaagcac
     1801 tcgagaccat cctggcccct ccagaccctg cctgagccca ggagctgagt cacctcctcc
     1861 actcactcca gcccaacaga aggaaggagg agggcgccca ttcgtctgtc ccagagctta
     1921 ttggccactg ggtctcactc ctgagtgggg ccagggtggg agggagggac gagggggagg
     1981 aaaggggcga gcacccacgt gagagaatct gcctgtggcc ttgcccgcca gcctcagtgc
     2041 cacttgacat tccttgtcac cagcaacatc tcgagccccc tggatgtccc ctgtcccacc
     2101 aactctgcac tccatggcca ccccgtgcca cccgtaggca gcctctctgc tataagaaaa
     2161 gcagacgcag cagctgggac ccctcccaac ctcaatgccc tgccattaaa tccgcaaaca
     2221 gcc
//
