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Entry version 175 (22 Apr 2020)
Sequence version 2 (30 May 2006)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Bifunctional enzyme localized in the lumen of the endoplasmic reticulum that catalyzes the first two steps of the oxidative branch of the pentose phosphate pathway/shunt, an alternative to glycolysis and a major source of reducing power and metabolic intermediates for biosynthetic processes (By similarity). Has a hexose-6-phosphate dehydrogenase activity, with broad substrate specificity compared to glucose-6-phosphate 1-dehydrogenase/G6PD, and catalyzes the first step of the pentose phosphate pathway (PubMed:12858176, PubMed:18628520, PubMed:23132696). In addition, acts as a 6-phosphogluconolactonase and catalyzes the second step of the pentose phosphate pathway (By similarity). May have a dehydrogenase activity for alternative substrates including glucosamine 6-phosphate and glucose 6-sulfate (By similarity). The main function of this enzyme is to provide reducing equivalents such as NADPH to maintain the adequate levels of reductive cofactors in the oxidizing environment of the endoplasmic reticulum (PubMed:12858176, PubMed:18628520, PubMed:23132696). By producing NADPH that is needed by reductases of the lumen of the endoplasmic reticulum like corticosteroid 11-beta-dehydrogenase isozyme 1/HSD11B1, indirectly regulates their activity (PubMed:18628520).By similarity3 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: pentose phosphate pathway

This protein is involved in step 1 and 2 of the subpathway that synthesizes D-ribulose 5-phosphate from D-glucose 6-phosphate (oxidative stage).3 Publications
Proteins known to be involved in the 3 steps of the subpathway in this organism are:
  1. Glucose-6-phosphate 1-dehydrogenase (G6PD), Glucose-6-phosphate 1-dehydrogenase, GDH/6PGL endoplasmic bifunctional protein (H6PD), Glucose-6-phosphate 1-dehydrogenase (G6PD), Glucose-6-phosphate 1-dehydrogenase (G6PD), Glucose-6-phosphate 1-dehydrogenase (G6PD), Glucose-6-phosphate 1-dehydrogenase, Glucose-6-phosphate 1-dehydrogenase (G6PD), Glucose-6-phosphate 1-dehydrogenase, Glucose-6-phosphate 1-dehydrogenase (G6PD), Glucose-6-phosphate 1-dehydrogenase (G6PD), Glucose-6-phosphate 1-dehydrogenase
  2. 6-phosphogluconolactonase (PGLS), 6-phosphogluconolactonase (PGLS), 6-phosphogluconolactonase (HEL-S-304), GDH/6PGL endoplasmic bifunctional protein (H6PD), 6-phosphogluconolactonase (PGLS)
  3. 6-phosphogluconate dehydrogenase, decarboxylating (PGD), 6-phosphogluconate dehydrogenase, decarboxylating, 6-phosphogluconate dehydrogenase, decarboxylating
This subpathway is part of the pathway pentose phosphate pathway, which is itself part of Carbohydrate degradation.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes D-ribulose 5-phosphate from D-glucose 6-phosphate (oxidative stage), the pathway pentose phosphate pathway and in Carbohydrate degradation.

Pathwayi: pentose phosphate pathway

This protein is involved in the subpathway that synthesizes D-ribulose 5-phosphate from D-glucose 6-phosphate (oxidative stage).By similarity This subpathway is part of the pathway pentose phosphate pathway, which is itself part of Carbohydrate degradation.
View all proteins of this organism that are known to be involved in the pathway pentose phosphate pathway and in Carbohydrate degradation.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei149NADPBy similarity1
Binding sitei174NADP; via carbonyl oxygenBy similarity1
Binding sitei174SubstrateBy similarity1
Binding sitei243SubstrateBy similarity1
Binding sitei262SubstrateBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei267Proton acceptorBy similarity1
Binding sitei360SubstrateBy similarity1
Binding sitei365SubstrateBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi32 – 39NADPBy similarity8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS00614-MONOMER

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
O95479

UniPathway: a resource for the exploration and annotation of metabolic pathways

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UniPathwayi
UPA00115;UER00408
UPA00115;UER00409

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
GDH/6PGL endoplasmic bifunctional proteinBy similarity
Including the following 2 domains:
Hexose-6-phosphate dehydrogenase1 Publication
Alternative name(s):
Glucose 1-dehydrogenase1 Publication (EC:1.1.1.47By similarity)
Short name:
GDH1 Publication
Glucose-6-phosphate dehydrogenase1 Publication (EC:1.1.1.3631 Publication)
6-phosphogluconolactonaseBy similarity (EC:3.1.1.31By similarity)
Short name:
6PGLBy similarity
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:H6PDImported
Synonyms:GDH
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:4795 H6PD

Online Mendelian Inheritance in Man (OMIM)

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MIMi
138090 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O95479

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Cortisone reductase deficiency 1 (CORTRD1)4 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_069193146P → L in CORTRD1; no effect on protein abundance; decreased glucose-6-phosphate dehydrogenase activity. 1 Publication1
Natural variantiVAR_083053316 – 791Missing in CORTRD1; loss of glucose-6-phosphate dehydrogenase activity. 1 PublicationAdd BLAST476
Natural variantiVAR_083054325 – 791Missing in CORTRD1; loss of glucose-6-phosphate dehydrogenase activity. 1 PublicationAdd BLAST467
Natural variantiVAR_083055359G → D in CORTRD1; loss of glucose-6-phosphate dehydrogenase activity. 1 Publication1
Natural variantiVAR_083056446 – 791Missing in CORTRD1; loss of glucose-6-phosphate dehydrogenase activity. 1 PublicationAdd BLAST346
Natural variantiVAR_026487453R → Q in CORTRD1; unknown pathological significance; no effect on glucose-6-phosphate dehydrogenase activity; however an effect was originally observed. 4 PublicationsCorresponds to variant dbSNP:rs6688832EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
9563

MalaCards human disease database

More...
MalaCardsi
H6PD
MIMi604931 phenotype

Open Targets

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OpenTargetsi
ENSG00000049239

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
168588 Hyperandrogenism due to cortisone reductase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA29170

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
O95479 Tbio

Chemistry databases

Drug and drug target database

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DrugBanki
DB00157 NADH

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
H6PD

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 19By similarityAdd BLAST19
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001044220 – 791GDH/6PGL endoplasmic bifunctional proteinAdd BLAST772

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei20Pyrrolidone carboxylic acidBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

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EPDi
O95479

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O95479

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
O95479

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O95479

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O95479

PeptideAtlas

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PeptideAtlasi
O95479

PRoteomics IDEntifications database

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PRIDEi
O95479

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
50910

PTM databases

GlyConnect protein glycosylation platform

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GlyConnecti
1264

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O95479

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O95479

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Present in most tissues examined, strongest in liver.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000049239 Expressed in saliva-secreting gland and 224 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O95479 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O95479 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000049239 Tissue enhanced (liver)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer.

By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
114933, 6 interactors

Protein interaction database and analysis system

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IntActi
O95479, 4 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000473348

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
O95479

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
O95479 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O95479

Database of comparative protein structure models

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ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni20 – 526Hexose-6-phosphate dehydrogenaseCuratedAdd BLAST507
Regioni204 – 208Substrate bindingBy similarity5
Regioni527 – 540LinkerCuratedAdd BLAST14
Regioni541 – 7916-phosphogluconolactonaseCuratedAdd BLAST251

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

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

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0563 Eukaryota
KOG3147 Eukaryota
COG0363 LUCA
COG0364 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00530000063435

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_018975_0_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O95479

KEGG Orthology (KO)

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KOi
K13937

Identification of Orthologs from Complete Genome Data

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OMAi
RKYLWQG

Database of Orthologous Groups

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OrthoDBi
383995at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O95479

TreeFam database of animal gene trees

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TreeFami
TF354247

Family and domain databases

Conserved Domains Database

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CDDi
cd01400 6PGL, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View 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

The PANTHER Classification System

More...
PANTHERi
PTHR23429 PTHR23429, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02781 G6PD_C, 1 hit
PF00479 G6PD_N, 1 hit
PF01182 Glucosamine_iso, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00079 G6PDHDRGNASE

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF100950 SSF100950, 1 hit
SSF51735 SSF51735, 1 hit

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR01198 pgl, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00069 G6P_DEHYDROGENASE, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: O95479-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i01E179BE00C87C79
GO
Isoform 2 (identifier: O95479-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MLAEPFNWHPGM

Show »
Length:802
Mass (Da):90,173
Checksum:iEC446C7050E20CF2
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti339A → G in CAA10071 (PubMed:10349511).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069193146P → L in CORTRD1; no effect on protein abundance; decreased glucose-6-phosphate dehydrogenase 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_083053316 – 791Missing in CORTRD1; loss of glucose-6-phosphate dehydrogenase activity. 1 PublicationAdd BLAST476
Natural variantiVAR_083054325 – 791Missing in CORTRD1; loss of glucose-6-phosphate dehydrogenase activity. 1 PublicationAdd BLAST467
Natural variantiVAR_083055359G → D in CORTRD1; loss of glucose-6-phosphate dehydrogenase activity. 1 Publication1
Natural variantiVAR_083056446 – 791Missing in CORTRD1; loss of glucose-6-phosphate dehydrogenase activity. 1 PublicationAdd BLAST346
Natural variantiVAR_026487453R → Q in CORTRD1; unknown pathological significance; no effect on glucose-6-phosphate dehydrogenase activity; however an effect was originally observed. 4 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

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0604851M → MLAEPFNWHPGM in isoform 2. 1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AJ012590 mRNA Translation: CAA10071.1
CR749282 mRNA Translation: CAH18137.1
Z98044 Genomic DNA No translation available.
BC081559 mRNA Translation: AAH81559.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS101.1 [O95479-1]

NCBI Reference Sequences

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RefSeqi
NP_001269516.1, NM_001282587.1 [O95479-2]
NP_004276.2, NM_004285.3 [O95479-1]
XP_006711115.1, XM_006711052.3 [O95479-1]
XP_016858354.1, XM_017002865.1 [O95479-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000377403; ENSP00000366620; ENSG00000049239 [O95479-1]
ENST00000602477; ENSP00000473348; ENSG00000049239 [O95479-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
9563

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9563

UCSC genome browser

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UCSCi
uc001apt.4 human [O95479-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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
Z98044 Genomic DNA No translation available.
BC081559 mRNA Translation: AAH81559.1
CCDSiCCDS101.1 [O95479-1]
RefSeqiNP_001269516.1, NM_001282587.1 [O95479-2]
NP_004276.2, NM_004285.3 [O95479-1]
XP_006711115.1, XM_006711052.3 [O95479-1]
XP_016858354.1, XM_017002865.1 [O95479-1]

3D structure databases

SMRiO95479
ModBaseiSearch...

Protein-protein interaction databases

BioGridi114933, 6 interactors
IntActiO95479, 4 interactors
STRINGi9606.ENSP00000473348

Chemistry databases

BindingDBiO95479
DrugBankiDB00157 NADH

PTM databases

GlyConnecti1264
iPTMnetiO95479
PhosphoSitePlusiO95479

Polymorphism and mutation databases

BioMutaiH6PD

Proteomic databases

EPDiO95479
jPOSTiO95479
MassIVEiO95479
MaxQBiO95479
PaxDbiO95479
PeptideAtlasiO95479
PRIDEiO95479
ProteomicsDBi50910

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
1350 296 antibodies

Genome annotation databases

EnsembliENST00000377403; ENSP00000366620; ENSG00000049239 [O95479-1]
ENST00000602477; ENSP00000473348; ENSG00000049239 [O95479-2]
GeneIDi9563
KEGGihsa:9563
UCSCiuc001apt.4 human [O95479-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
9563
DisGeNETi9563

GeneCards: human genes, protein and diseases

More...
GeneCardsi
H6PD
HGNCiHGNC:4795 H6PD
HPAiENSG00000049239 Tissue enhanced (liver)
MalaCardsiH6PD
MIMi138090 gene
604931 phenotype
neXtProtiNX_O95479
OpenTargetsiENSG00000049239
Orphaneti168588 Hyperandrogenism due to cortisone reductase deficiency
PharmGKBiPA29170

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0563 Eukaryota
KOG3147 Eukaryota
COG0363 LUCA
COG0364 LUCA
GeneTreeiENSGT00530000063435
HOGENOMiCLU_018975_0_0_1
InParanoidiO95479
KOiK13937
OMAiRKYLWQG
OrthoDBi383995at2759
PhylomeDBiO95479
TreeFamiTF354247

Enzyme and pathway databases

UniPathwayiUPA00115;UER00408
UPA00115;UER00409
BioCyciMetaCyc:HS00614-MONOMER
SABIO-RKiO95479

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
H6PD human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
H6PD

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
9563
PharosiO95479 Tbio

Protein Ontology

More...
PROi
PR:O95479
RNActiO95479 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000049239 Expressed in saliva-secreting gland and 224 other tissues
ExpressionAtlasiO95479 baseline and differential
GenevisibleiO95479 HS

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiG6PE_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O95479
Secondary accession number(s): Q4TT33
, Q66I35, Q68DT3, R4GMU1
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 30, 2006
Last modified: April 22, 2020
This is version 175 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

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