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Protein

GDH/6PGL endoplasmic bifunctional protein

Gene

H6PD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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)+ = D-glucono-1,5-lactone 6-phosphate + 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

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Oxidoreductase

Keywords - Biological processi

Carbohydrate metabolism, Glucose metabolism

Keywords - Ligandi

NAD, NADP

Enzyme and pathway databases

BioCyciMetaCyc:HS00614-MONOMER.
ZFISH:HS00614-MONOMER.
SABIO-RKO95479.

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):
Hexose-6-phosphate dehydrogenase
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

HGNCiHGNC:4795. H6PD.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum

Pathology & Biotechi

Involvement in diseasei

Cortisone reductase deficiency (CRD)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionIn CRD, activation of cortisone to cortisol does not occur, resulting in adrenocorticotropin-mediated androgen excess and a phenotype resembling polycystic ovary syndrome (PCOS).
See also OMIM:604931
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069193146P → L in CRD; results in reduced enzymatic activity. 1 Publication1
Natural variantiVAR_026487453R → Q in CRD; less than 50% of activity than wild-type. 3 PublicationsCorresponds to variant rs6688832dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

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

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...)1 Publication1
Modified residuei208N6-succinyllysineBy similarity1
Glycosylationi282N-linked (GlcNAc...)1 Publication1
Glycosylationi683N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein, Pyrrolidone carboxylic acid

Proteomic databases

EPDiO95479.
MaxQBiO95479.
PaxDbiO95479.
PeptideAtlasiO95479.
PRIDEiO95479.

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. 3 interactors.
IntActiO95479. 1 interactor.
STRINGi9606.ENSP00000366620.

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.
Gene3Di3.40.50.720. 1 hit.
InterProiIPR005900. 6-phosphogluconolactonase_DevB.
IPR001282. G6P_DH.
IPR019796. G6P_DH_AS.
IPR022675. G6P_DH_C.
IPR022674. G6P_DH_NAD-bd.
IPR006148. Glc/Gal-6P_isomerase.
IPR016040. NAD(P)-bd_dom.
[Graphical view]
PANTHERiPTHR23429. PTHR23429. 1 hit.
PfamiPF02781. G6PD_C. 1 hit.
PF00479. G6PD_N. 1 hit.
PF01182. Glucosamine_iso. 1 hit.
[Graphical view]
PRINTSiPR00079. G6PDHDRGNASE.
SUPFAMiSSF51735. SSF51735. 1 hit.
TIGRFAMsiTIGR01198. pgl. 1 hit.
PROSITEiPS00069. G6P_DEHYDROGENASE. 1 hit.
[Graphical view]

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 CRD; results in reduced enzymatic activity. 1 Publication1
Natural variantiVAR_049117151D → A.1 PublicationCorresponds to variant rs34603401dbSNPEnsembl.1
Natural variantiVAR_049118218R → Q.Corresponds to variant rs35525021dbSNPEnsembl.1
Natural variantiVAR_026487453R → Q in CRD; less than 50% of activity than wild-type. 3 PublicationsCorresponds to variant rs6688832dbSNPEnsembl.1
Natural variantiVAR_049119484N → D.Corresponds to variant rs35404275dbSNPEnsembl.1
Natural variantiVAR_049120554P → L.Corresponds to variant rs17368528dbSNPEnsembl.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. Translation: CAI95702.1.
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

Cross-referencesi

Web resourcesi

SHMPD

The Singapore human mutation and polymorphism database

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. Translation: CAI95702.1.
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.

3D structure databases

ProteinModelPortaliO95479.
SMRiO95479.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114933. 3 interactors.
IntActiO95479. 1 interactor.
STRINGi9606.ENSP00000366620.

PTM databases

iPTMnetiO95479.
PhosphoSitePlusiO95479.

Polymorphism and mutation databases

BioMutaiH6PD.

Proteomic databases

EPDiO95479.
MaxQBiO95479.
PaxDbiO95479.
PeptideAtlasiO95479.
PRIDEiO95479.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi9563.
DisGeNETi9563.
GeneCardsiH6PD.
H-InvDBHIX0000104.
HGNCiHGNC:4795. H6PD.
HPAiHPA004824.
HPA005440.
MalaCardsiH6PD.
MIMi138090. gene.
604931. phenotype.
neXtProtiNX_O95479.
OpenTargetsiENSG00000049239.
Orphaneti168588. Hyperandrogenism due to cortisone reductase deficiency.
PharmGKBiPA29170.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciMetaCyc:HS00614-MONOMER.
ZFISH:HS00614-MONOMER.
SABIO-RKO95479.

Miscellaneous databases

ChiTaRSiH6PD. human.
GeneWikiiH6PD.
GenomeRNAii9563.
PROiO95479.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000049239.
CleanExiHS_H6PD.
ExpressionAtlasiO95479. baseline and differential.
GenevisibleiO95479. HS.

Family and domain databases

CDDicd01400. 6PGL. 1 hit.
Gene3Di3.40.50.720. 1 hit.
InterProiIPR005900. 6-phosphogluconolactonase_DevB.
IPR001282. G6P_DH.
IPR019796. G6P_DH_AS.
IPR022675. G6P_DH_C.
IPR022674. G6P_DH_NAD-bd.
IPR006148. Glc/Gal-6P_isomerase.
IPR016040. NAD(P)-bd_dom.
[Graphical view]
PANTHERiPTHR23429. PTHR23429. 1 hit.
PfamiPF02781. G6PD_C. 1 hit.
PF00479. G6PD_N. 1 hit.
PF01182. Glucosamine_iso. 1 hit.
[Graphical view]
PRINTSiPR00079. G6PDHDRGNASE.
SUPFAMiSSF51735. SSF51735. 1 hit.
TIGRFAMsiTIGR01198. pgl. 1 hit.
PROSITEiPS00069. G6P_DEHYDROGENASE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiG6PE_HUMAN
AccessioniPrimary (citable) accession number: O95479
Secondary accession number(s): Q4TT33, Q66I35, Q68DT3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 30, 2006
Last modified: November 2, 2016
This is version 151 of the entry and version 2 of the sequence. [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, Multifunctional enzyme, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.