LOCUS       NP_004276                791 aa            linear   PRI 07-APR-2024
DEFINITION  GDH/6PGL endoplasmic bifunctional protein isoform 2 precursor [Homo
            sapiens].
ACCESSION   NP_004276
VERSION     NP_004276.2
DBSOURCE    REFSEQ: accession NM_004285.4
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  (residues 1 to 791)
  AUTHORS   Ji,T., Gao,L. and Yu,Z.
  TITLE     Tumor-suppressive microRNA-551b-3p targets H6PD to inhibit
            gallbladder cancer progression
  JOURNAL   Cancer Gene Ther 28 (6), 693-705 (2021)
   PUBMED   33250514
  REMARK    GeneRIF: Tumor-suppressive microRNA-551b-3p targets H6PD to inhibit
            gallbladder cancer progression.
REFERENCE   2  (residues 1 to 791)
  AUTHORS   Tsachaki,M., Mladenovic,N., Stambergova,H., Birk,J. and Odermatt,A.
  TITLE     Hexose-6-phosphate dehydrogenase controls cancer cell proliferation
            and migration through pleiotropic effects on the unfolded-protein
            response, calcium homeostasis, and redox balance
  JOURNAL   FASEB J 32 (5), 2690-2705 (2018)
   PUBMED   29295867
  REMARK    GeneRIF: Knockdown of H6PD resulted in an increase in ER lumen
            oxidation, and down-regulation of many components of the unfolded
            protein response, including the transcription factors activating
            transcription factor-4, activating transcription factor-6, split
            X-box binding protein-1, and CCAAT/enhancer binding protein
            homologous protein.
REFERENCE   3  (residues 1 to 791)
  AUTHORS   Ranzani,A.T. and Cordeiro,A.T.
  TITLE     Mutations in the tetramer interface of human glucose-6-phosphate
            dehydrogenase reveals kinetic differences between oligomeric states
  JOURNAL   FEBS Lett 591 (9), 1278-1284 (2017)
   PUBMED   28370139
  REMARK    GeneRIF: Data indicate the tetramer as the most active form of
            glucose-6-phosphate dehydrogenase (G6PDH).
REFERENCE   4  (residues 1 to 791)
  AUTHORS   Wang,Z., Mick,G.J., Xie,R., Wang,X., Xie,X., Li,G. and
            McCormick,K.L.
  TITLE     Cortisol promotes endoplasmic glucose production via pyridine
            nucleotide redox
  JOURNAL   J Endocrinol 229 (1), 25-36 (2016)
   PUBMED   26860459
  REMARK    GeneRIF: cortisol reduces glucose-6-phosphate (G6P) flux through
            H6PDH by increasing luminal NADPH, thereby allowing more G6P for
            hydrolysis via G6Pase
REFERENCE   5  (residues 1 to 791)
  AUTHORS   Ju,R., Wu,W., Tang,Q., Wu,D., Xia,Y., Wu,J. and Wang,X.
  TITLE     Association Analysis between the Polymorphisms of HSD11B1 and H6PD
            and Risk of Polycystic Ovary Syndrome in Chinese Population
  JOURNAL   PLoS One 10 (10), e0140326 (2015)
   PUBMED   26452272
  REMARK    GeneRIF: The G allele of rs6688832 in H6PD might exert potential
            genetic protective role against the development of PCOS, especially
            in overweight women. PCOS patients with AG genotype of rs6688832
            might confer risk to the phenotype of hyperandrogenemia of PCOS.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 791)
  AUTHORS   Ikegwuonu,F.I. and Jefcoate,C.R.
  TITLE     Evidence for the involvement of the fatty acid and peroxisomal
            beta-oxidation pathways in the inhibition by dehydroepiandrosterone
            (DHEA) and induction by 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD)
            and benz(a)anthracene (BA) of cytochrome P4501B1 (CYP1B1) in mouse
            embryo fibroblasts (C3H10T1/2 cells)
  JOURNAL   Mol Cell Biochem 198 (1-2), 89-100 (1999)
   PUBMED   10497882
REFERENCE   7  (residues 1 to 791)
  AUTHORS   Mason,P.J., Stevens,D., Diez,A., Knight,S.W., Scopes,D.A. and
            Vulliamy,T.J.
  TITLE     Human hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
            encoded at 1p36: coding sequence and expression
  JOURNAL   Blood Cells Mol Dis 25 (1), 30-37 (1999)
   PUBMED   10349511
REFERENCE   8  (residues 1 to 791)
  AUTHORS   Toncheva,D., Evrev,T. and Tzoneva,M.
  TITLE     G6PD in immature and mature human brain. Electrophoretic and enzyme
            kinetic studies
  JOURNAL   Hum Hered 32 (3), 193-196 (1982)
   PUBMED   7106784
REFERENCE   9  (residues 1 to 791)
  AUTHORS   Tan,S.G. and Ashton,G.C.
  TITLE     An autosomal glucose-6-phosphate dehydrogenase (hexose-6-phosphate
            dehydrogenase) polymorphism in human saliva
  JOURNAL   Hum Hered 26 (2), 113-123 (1976)
   PUBMED   950237
REFERENCE   10 (residues 1 to 791)
  AUTHORS   Beutler,E. and Morrison,M.
  TITLE     Localization and characteristics of hexose 6-phosphate
            dehydrogenase (glucose dehydrogenase)
  JOURNAL   J Biol Chem 242 (22), 5289-5293 (1967)
   PUBMED   4169027
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z98044.13, BC081559.1 and
            AJ012590.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Sep 16, 2004 this sequence version replaced NP_004276.1.
            
            Summary: There are 2 forms of glucose-6-phosphate dehydrogenase. G
            form is X-linked and H form, encoded by this gene, is autosomally
            linked. This H form shows activity with other hexose-6-phosphates,
            especially galactose-6-phosphate, whereas the G form is specific
            for glucose-6-phosphate. Both forms are present in most tissues,
            but H form is not found in red cells. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (2) uses an alternate 5' most exon
            compared to variant 1. The encoded isoform (2) has a shorter
            N-terminus compared to isoform 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 :: SRR7346977.2459087.1,
                                           SRR1803613.46363.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000377403.7/ ENSP00000366620.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..791
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.22"
     Protein         1..791
                     /product="GDH/6PGL endoplasmic bifunctional protein
                     isoform 2 precursor"
                     /EC_number="1.1.1.47"
                     /EC_number="3.1.1.31"
                     /EC_number="1.1.1.363"
                     /note="GDH/6PGL endoplasmic bifunctional protein; glucose
                     dehyrogenase; 6-phosphogluconolactonase;
                     glucose-6-phosphate dehydrogenase, salivary; G6PD, H form;
                     glucose dehydrogenase; glucose 1- dehydrogenase"
                     /calculated_mol_wt=86816
     sig_peptide     1..19
                     /inference="COORDINATES: ab initio prediction:SignalP:6.0"
                     /calculated_mol_wt=2095
     mat_peptide     20..791
                     /product="GDH/6PGL endoplasmic bifunctional protein.
                     /id=PRO_0000010442"
                     /note="propagated from UniProtKB/Swiss-Prot (O95479.2)"
                     /calculated_mol_wt=86816
     Region          20..526
                     /region_name="Hexose-6-phosphate dehydrogenase.
                     /evidence=ECO:0000305"
                     /note="propagated from UniProtKB/Swiss-Prot (O95479.2)"
     Site            20
                     /site_type="pyrrolidone-carboxylic-acid"
                     /note="Pyrrolidone carboxylic acid.
                     /evidence=ECO:0000250|UniProtKB:P56201; propagated from
                     UniProtKB/Swiss-Prot (O95479.2)"
     Region          26..504
                     /region_name="PTZ00309"
                     /note="glucose-6-phosphate 1-dehydrogenase; Provisional"
                     /db_xref="CDD:240353"
     Site            157
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (O95479.2)"
     Site            282
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (O95479.2)"
     Region          527..540
                     /region_name="Linker. /evidence=ECO:0000305"
                     /note="propagated from UniProtKB/Swiss-Prot (O95479.2)"
     Region          541..791
                     /region_name="6-phosphogluconolactonase.
                     /evidence=ECO:0000305"
                     /note="propagated from UniProtKB/Swiss-Prot (O95479.2)"
     Region          556..791
                     /region_name="pgl"
                     /note="6-phosphogluconolactonase; TIGR01198"
                     /db_xref="CDD:273494"
     Site            order(593..594,622,698,728,751)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:238694"
     Site            683
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O95479.2)"
     CDS             1..791
                     /gene="H6PD"
                     /gene_synonym="CORTRD1; G6PDH; GDH; H6PDH"
                     /coded_by="NM_004285.4:304..2679"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS101.1"
                     /db_xref="GeneID:9563"
                     /db_xref="HGNC:HGNC:4795"
                     /db_xref="MIM:138090"
ORIGIN      
        1 mwnmlivamc lallgclqaq elqghvsiil lgatgdlakk ylwqglfqly ldeagrghsf
       61 sfhgaaltap kqgqelmaka leslscpkdm apshcaehkd qflqlsqyrq lktaedyqal
      121 nkdieaqlqh aglreagrif yfsvppfaye diarninssc rpgpgawlrv vlekpfghdh
      181 fsaqqlatel gtffqeeemy rvdhylgkqa vaqilpfrdq nrkaldglwn rhhverveii
      241 mketvdaegr tsfyeeygvi rdvlqnhlte vltlvamelp hnvssaeavl rhklqvfqal
      301 rglqrgsavv gqyqsyseqv rrelqkpdsf hsltptfaav lvhidnlrwe gvpfilmsgk
      361 aldervgyar ilfknqaccv qsekhwaaaq sqclprqlvf highgdlgsp avlvsrnlfr
      421 pslpsswkem egppglrlfg splsdyyays pvrerdahsv llshifhgrk nffittenll
      481 aswnfwtpll eslahkaprl ypggaengrl ldfefssgrl ffsqqqpeql vpgpgpapmp
      541 sdfqvlraky resplvsaws eeliskland ieatavravr rfgqfhlals ggsspvalfq
      601 qlatahygfp wahthlwlvd ercvplsdpe snfqglqahl lqhvripyyn ihpmpvhlqq
      661 rlcaeedqga qiyareisal vanssfdlvl lgmgadghta slfpqsptgl dgeqlvvltt
      721 spsqphrrms lslplinrak kvavlvmgrm kreittlvsr vghepkkwpi sgvlphsgql
      781 vwymdydafl g
//
