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Protein

GDH/6PGL endoplasmic bifunctional protein

Gene

H6PD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Oxidizes glucose-6-phosphate and glucose, as well as other hexose-6-phosphates.

Catalytic activityi

D-glucose + NAD(P)+ = D-glucono-1,5-lactone + NAD(P)H.PROSITE-ProRule annotation
D-glucose 6-phosphate + NAD(P)+ = 6-phospho-D-glucono-1,5-lactone + NAD(P)H.
6-phospho-D-glucono-1,5-lactone + H2O = 6-phospho-D-gluconate.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei34NADPBy similarity1
Binding sitei66NADPBy similarity1
Binding sitei204SubstratePROSITE-ProRule annotation1
Binding sitei208SubstratePROSITE-ProRule annotation1
Active sitei267Proton acceptorBy similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionHydrolase, Multifunctional enzyme, Oxidoreductase
Biological processCarbohydrate metabolism, Glucose metabolism
LigandNAD, NADP

Enzyme and pathway databases

BioCyciMetaCyc:HS00614-MONOMER
SABIO-RKiO95479

Names & Taxonomyi

Protein namesi
Recommended name:
GDH/6PGL endoplasmic bifunctional protein
Including the following 2 domains:
Glucose 1-dehydrogenase (EC:1.1.1.47)
Alternative name(s):
Glucose-6-phosphate dehydrogenase (EC:1.1.1.363)
6-phosphogluconolactonase (EC:3.1.1.31)
Short name:
6PGL
Gene namesi
Name:H6PD
Synonyms:GDH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000049239.12
HGNCiHGNC:4795 H6PD
MIMi138090 gene
neXtProtiNX_O95479

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum

Pathology & Biotechi

Involvement in diseasei

Cortisone reductase deficiency 1 (CORTRD1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive error of cortisone metabolism characterized by a failure to regenerate cortisol from cortisone, resulting in increased cortisol clearance, activation of the hypothalamic- pituitary axis and ACTH-mediated adrenal androgen excess. Clinical features include hyperandrogenism resulting in hirsutism, oligo- amenorrhea, and infertility in females and premature pseudopuberty in males.
See also OMIM:604931
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069193146P → L in CORTRD1; results in reduced enzymatic activity. 1 Publication1
Natural variantiVAR_026487453R → Q in CORTRD1; less than 50% of activity than wild-type. 3 PublicationsCorresponds to variant dbSNP:rs6688832EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi9563
MalaCardsiH6PD
MIMi604931 phenotype
OpenTargetsiENSG00000049239
Orphaneti168588 Hyperandrogenism due to cortisone reductase deficiency
PharmGKBiPA29170

Chemistry databases

DrugBankiDB00157 NADH

Polymorphism and mutation databases

BioMutaiH6PD

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 19By similarityAdd BLAST19
ChainiPRO_000001044220 – 791GDH/6PGL endoplasmic bifunctional proteinAdd BLAST772

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei20Pyrrolidone carboxylic acidBy similarity1
Glycosylationi157N-linked (GlcNAc...) asparagine1 Publication1
Modified residuei208N6-succinyllysineBy similarity1
Glycosylationi282N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi683N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein, Pyrrolidone carboxylic acid

Proteomic databases

EPDiO95479
MaxQBiO95479
PaxDbiO95479
PeptideAtlasiO95479
PRIDEiO95479
ProteomicsDBi50910

PTM databases

iPTMnetiO95479
PhosphoSitePlusiO95479

Expressioni

Tissue specificityi

Present in most tissues examined, strongest in liver.

Gene expression databases

BgeeiENSG00000049239
CleanExiHS_H6PD
ExpressionAtlasiO95479 baseline and differential
GenevisibleiO95479 HS

Organism-specific databases

HPAiHPA004824
HPA005440

Interactioni

Protein-protein interaction databases

BioGridi114933, 4 interactors
IntActiO95479, 1 interactor
STRINGi9606.ENSP00000366620

Chemistry databases

BindingDBiO95479

Structurei

3D structure databases

ProteinModelPortaliO95479
SMRiO95479
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni20 – 526Glucose 1-dehydrogenaseAdd BLAST507
Regioni527 – 540LinkerAdd BLAST14
Regioni541 – 7916-phosphogluconolactonaseAdd BLAST251

Sequence similaritiesi

In the N-terminal section; belongs to the glucose-6-phosphate dehydrogenase family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG0563 Eukaryota
KOG3147 Eukaryota
COG0363 LUCA
COG0364 LUCA
GeneTreeiENSGT00530000063435
HOGENOMiHOG000231077
HOVERGENiHBG005780
InParanoidiO95479
KOiK13937
PhylomeDBiO95479
TreeFamiTF354247

Family and domain databases

CDDicd01400 6PGL, 1 hit
InterProiView protein in InterPro
IPR005900 6-phosphogluconolactonase_DevB
IPR001282 G6P_DH
IPR019796 G6P_DH_AS
IPR022675 G6P_DH_C
IPR022674 G6P_DH_NAD-bd
IPR006148 Glc/Gal-6P_isomerase
IPR036291 NAD(P)-bd_dom_sf
IPR037171 NagB/RpiA_transferase-like
PANTHERiPTHR23429 PTHR23429, 1 hit
PfamiView protein in Pfam
PF02781 G6PD_C, 1 hit
PF00479 G6PD_N, 1 hit
PF01182 Glucosamine_iso, 1 hit
PRINTSiPR00079 G6PDHDRGNASE
SUPFAMiSSF100950 SSF100950, 1 hit
SSF51735 SSF51735, 1 hit
TIGRFAMsiTIGR01198 pgl, 1 hit
PROSITEiView protein in PROSITE
PS00069 G6P_DEHYDROGENASE, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

O95479-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MWNMLIVAMC LALLGCLQAQ ELQGHVSIIL LGATGDLAKK YLWQGLFQLY
60 70 80 90 100
LDEAGRGHSF SFHGAALTAP KQGQELMAKA LESLSCPKDM APSHCAEHKD
110 120 130 140 150
QFLQLSQYRQ LKTAEDYQAL NKDIEAQLQH AGLREAGRIF YFSVPPFAYE
160 170 180 190 200
DIARNINSSC RPGPGAWLRV VLEKPFGHDH FSAQQLATEL GTFFQEEEMY
210 220 230 240 250
RVDHYLGKQA VAQILPFRDQ NRKALDGLWN RHHVERVEII MKETVDAEGR
260 270 280 290 300
TSFYEEYGVI RDVLQNHLTE VLTLVAMELP HNVSSAEAVL RHKLQVFQAL
310 320 330 340 350
RGLQRGSAVV GQYQSYSEQV RRELQKPDSF HSLTPTFAAV LVHIDNLRWE
360 370 380 390 400
GVPFILMSGK ALDERVGYAR ILFKNQACCV QSEKHWAAAQ SQCLPRQLVF
410 420 430 440 450
HIGHGDLGSP AVLVSRNLFR PSLPSSWKEM EGPPGLRLFG SPLSDYYAYS
460 470 480 490 500
PVRERDAHSV LLSHIFHGRK NFFITTENLL ASWNFWTPLL ESLAHKAPRL
510 520 530 540 550
YPGGAENGRL LDFEFSSGRL FFSQQQPEQL VPGPGPAPMP SDFQVLRAKY
560 570 580 590 600
RESPLVSAWS EELISKLAND IEATAVRAVR RFGQFHLALS GGSSPVALFQ
610 620 630 640 650
QLATAHYGFP WAHTHLWLVD ERCVPLSDPE SNFQGLQAHL LQHVRIPYYN
660 670 680 690 700
IHPMPVHLQQ RLCAEEDQGA QIYAREISAL VANSSFDLVL LGMGADGHTA
710 720 730 740 750
SLFPQSPTGL DGEQLVVLTT SPSQPHRRMS LSLPLINRAK KVAVLVMGRM
760 770 780 790
KREITTLVSR VGHEPKKWPI SGVLPHSGQL VWYMDYDAFL G
Length:791
Mass (Da):88,893
Last modified:May 30, 2006 - v2
Checksum:i01E179BE00C87C79
GO

Sequence cautioni

The sequence CAH18137 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti339A → G in CAA10071 (PubMed:10349511).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069193146P → L in CORTRD1; results in reduced enzymatic activity. 1 Publication1
Natural variantiVAR_049117151D → A1 PublicationCorresponds to variant dbSNP:rs34603401Ensembl.1
Natural variantiVAR_049118218R → Q. Corresponds to variant dbSNP:rs35525021Ensembl.1
Natural variantiVAR_026487453R → Q in CORTRD1; less than 50% of activity than wild-type. 3 PublicationsCorresponds to variant dbSNP:rs6688832EnsemblClinVar.1
Natural variantiVAR_049119484N → D. Corresponds to variant dbSNP:rs35404275Ensembl.1
Natural variantiVAR_049120554P → L. Corresponds to variant dbSNP:rs17368528Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ012590 mRNA Translation: CAA10071.1
CR749282 mRNA Translation: CAH18137.1 Different initiation.
Z98044 Genomic DNA No translation available.
BC081559 mRNA Translation: AAH81559.1
CCDSiCCDS101.1
RefSeqiNP_004276.2, NM_004285.3
XP_006711115.1, XM_006711052.3
XP_016858354.1, XM_017002865.1
UniGeneiHs.463511

Genome annotation databases

EnsembliENST00000377403; ENSP00000366620; ENSG00000049239
GeneIDi9563
KEGGihsa:9563
UCSCiuc001apt.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiG6PE_HUMAN
AccessioniPrimary (citable) accession number: O95479
Secondary accession number(s): Q4TT33, Q66I35, Q68DT3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 30, 2006
Last modified: June 20, 2018
This is version 162 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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