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UniProtKB - P35575 (G6PC_HUMAN)

Protein

Glucose-6-phosphatase

Gene

G6PC

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

Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. Forms with the glucose-6-phosphate transporter (SLC37A4/G6PT) the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it is the key enzyme in homeostatic regulation of blood glucose levels.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: gluconeogenesis

This protein is involved in the pathway gluconeogenesis, which is part of Carbohydrate biosynthesis.
View all proteins of this organism that are known to be involved in the pathway gluconeogenesis and in Carbohydrate biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ 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 sitei83SubstrateSequence analysis1
<p>This subsection of the ‘Function’ 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 sitei119Proton donorSequence analysis1
Binding sitei170SubstrateSequence analysis1
Active sitei176Nucleophile1 Publication1

<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

  • glucose-6-phosphatase activity Source: UniProtKB
  • phosphate ion binding Source: UniProtKB
  • phosphotransferase activity, alcohol group as acceptor Source: Ensembl
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<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
Biological processGluconeogenesis

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS05538-MONOMER

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		3.1.3.9 2681

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-3274531 Glycogen storage disease type Ia (G6PC)
R-HSA-70263 Gluconeogenesis

SABIO-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		P35575

SIGNOR Signaling Network Open Resource

More...SIGNORi		P35575

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

More...UniPathwayi
UPA00138

<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_and_taxonomy_section">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:
Glucose-6-phosphatase (EC:3.1.3.9)
Short name:
G-6-Pase
Short name:
G6Pase
Alternative name(s):
Glucose-6-phosphatase alpha
Short name:
G6Pase-alpha
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:G6PC
Synonyms:G6PT
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000131482.9

Human Gene Nomenclature Database

More...HGNCi		HGNC:4056 G6PC

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		613742 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P35575

<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; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 28LumenalSequence analysisAdd BLAST28
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei29 – 49HelicalSequence analysisAdd BLAST21
Topological domaini50 – 60CytoplasmicSequence analysisAdd BLAST11
Transmembranei61 – 81HelicalSequence analysisAdd BLAST21
Topological domaini82 – 117LumenalSequence analysisAdd BLAST36
Transmembranei118 – 138HelicalSequence analysisAdd BLAST21
Topological domaini139 – 147CytoplasmicSequence analysis9
Transmembranei148 – 168HelicalSequence analysisAdd BLAST21
Topological domaini169 – 179LumenalSequence analysisAdd BLAST11
Transmembranei180 – 202HelicalSequence analysisAdd BLAST23
Topological domaini203 – 209CytoplasmicSequence analysis7
Transmembranei210 – 230HelicalSequence analysisAdd BLAST21
Topological domaini231 – 254LumenalSequence analysisAdd BLAST24
Transmembranei255 – 275HelicalSequence analysisAdd BLAST21
Topological domaini276 – 291CytoplasmicSequence analysisAdd BLAST16
Transmembranei292 – 312HelicalSequence analysisAdd BLAST21
Topological domaini313 – 320LumenalSequence analysis8
Transmembranei321 – 341HelicalSequence analysisAdd BLAST21
Topological domaini342 – 357CytoplasmicSequence analysisAdd BLAST16

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

<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

Glycogen storage disease 1A (GSD1A)24 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia.
See also OMIM:232200
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_0462495M → R in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs1250172816Ensembl.1
Natural variantiVAR_04625016T → A in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs761839506Ensembl.1
Natural variantiVAR_04625116T → R in GSD1A; complete loss of activity and reduced enzyme stability. 1 Publication1
Natural variantiVAR_00920220Q → R in GSD1A. 2 Publications1
Natural variantiVAR_00523738D → V in GSD1A. 4 PublicationsCorresponds to variant dbSNP:rs104894565EnsemblClinVar.1
Natural variantiVAR_00920354Q → P in GSD1A. 3 PublicationsCorresponds to variant dbSNP:rs1057517008Ensembl.1
Natural variantiVAR_04625263W → R in GSD1A. 1 Publication1
Natural variantiVAR_04625365A → P in GSD1A. 1 Publication1
Natural variantiVAR_04625468G → R in GSD1A. 2 Publications1
Natural variantiVAR_04625576K → N in GSD1A; loss of catalytic activity. 2 Publications1
Natural variantiVAR_00523877W → R in GSD1A. 3 PublicationsCorresponds to variant dbSNP:rs104894566EnsemblClinVar.1
Natural variantiVAR_00920481G → R in GSD1A. 2 PublicationsCorresponds to variant dbSNP:rs756632286Ensembl.1
Natural variantiVAR_00523983R → C in GSD1A; complete loss of activity; prevalent mutation in Ashkenazi Jewish population. 12 PublicationsCorresponds to variant dbSNP:rs1801175EnsemblClinVar.1
Natural variantiVAR_00524083R → H in GSD1A. 3 PublicationsCorresponds to variant dbSNP:rs1801176EnsemblClinVar.1
Natural variantiVAR_00524183R → I in GSD1A. 1 Publication1
Natural variantiVAR_009205108T → I in GSD1A. 2 Publications1
Natural variantiVAR_005242110E → K in GSD1A. 3 PublicationsCorresponds to variant dbSNP:rs104894567EnsemblClinVar.1
Natural variantiVAR_046256111T → I in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs1203167759Ensembl.1
Natural variantiVAR_046257113P → L in GSD1A. 1 Publication1
Natural variantiVAR_046258119H → L in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs1401928680Ensembl.1
Natural variantiVAR_046259122G → D in GSD1A. 2 PublicationsCorresponds to variant dbSNP:rs759982943Ensembl.1
Natural variantiVAR_005243124A → T in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs104894568EnsemblClinVar.1
Natural variantiVAR_009206156W → L in GSD1A. 2 PublicationsCorresponds to variant dbSNP:rs1189630738Ensembl.1
Natural variantiVAR_046260166V → A in GSD1A. 1 Publication1
Natural variantiVAR_005244166V → G in GSD1A; complete loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs104894571EnsemblClinVar.1
Natural variantiVAR_046261170R → Q in GSD1A; loss of catalytic activity. 3 PublicationsCorresponds to variant dbSNP:rs750470654Ensembl.1
Natural variantiVAR_046262177F → C in GSD1A. 1 Publication1
Natural variantiVAR_065164178P → A in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs763543607Ensembl.1
Natural variantiVAR_046263178P → S in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs763543607Ensembl.1
Natural variantiVAR_046264179H → P in GSD1A. 1 Publication1
Natural variantiVAR_005245184G → E in GSD1A. 2 PublicationsCorresponds to variant dbSNP:rs104894569EnsemblClinVar.1
Natural variantiVAR_046265184G → V in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs104894569EnsemblClinVar.1
Natural variantiVAR_009207188G → D in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs760981149Ensembl.1
Natural variantiVAR_005246188G → R in GSD1A; complete loss of activity. 5 PublicationsCorresponds to variant dbSNP:rs80356482EnsemblClinVar.1
Natural variantiVAR_046266188G → S in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs80356482EnsemblClinVar.1
Natural variantiVAR_046268209Y → C in GSD1A; complete loss of activity and reduced enzyme stability. 1 Publication1
Natural variantiVAR_005247211L → P in GSD1A. 1 Publication1
Natural variantiVAR_005248222G → R in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs1410392732Ensembl.1
Natural variantiVAR_046269236W → R in GSD1A. 1 Publication1
Natural variantiVAR_046270241A → T in GSD1A. 1 Publication1
Natural variantiVAR_065165255T → I in GSD1A. 1 Publication1
Natural variantiVAR_046271257P → L in GSD1A. 1 Publication1
Natural variantiVAR_046272264N → K in GSD1A. 1 Publication1
Natural variantiVAR_046273265L → P in GSD1A. 1 Publication1
Natural variantiVAR_005249266G → V in GSD1A. 1 Publication1
Natural variantiVAR_046274270G → R in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs1272803483Ensembl.1
Natural variantiVAR_005250270G → V in GSD1A. 3 PublicationsCorresponds to variant dbSNP:rs80356483EnsemblClinVar.1
Natural variantiVAR_046275270G → W in GSD1A. 1 Publication1
Natural variantiVAR_005251295R → C in GSD1A. 2 PublicationsCorresponds to variant dbSNP:rs104894563EnsemblClinVar.1
Natural variantiVAR_046276298S → P in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs770003650Ensembl.1
Natural variantiVAR_046277322F → L in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs1399520060Ensembl.1
Natural variantiVAR_005252327Missing in GSD1A. 2 Publications1
Natural variantiVAR_005253338V → F in GSD1A. 3 PublicationsCorresponds to variant dbSNP:rs367727229EnsemblClinVar.1
Natural variantiVAR_005254341I → N in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs387906505EnsemblClinVar.1
Natural variantiVAR_046278345L → R in GSD1A. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi9H → A: Partial loss of catalytic activity. 1 Publication1
Mutagenesisi52H → A: Partial loss of catalytic activity. 1 Publication1
Mutagenesisi119H → A: Loss of catalytic activity. 1 Publication1
Mutagenesisi176H → A: Loss of catalytic activity. 1 Publication1
Mutagenesisi179H → A: Loss of catalytic activity. 1 Publication1
Mutagenesisi197H → T: Partial loss of catalytic activity. 1 Publication1
Mutagenesisi252H → A: Partial loss of catalytic activity. 1 Publication1
Mutagenesisi307H → A: Partial loss of catalytic activity. 1 Publication1
Mutagenesisi353H → A: Partial loss of catalytic activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Glycogen storage disease

Organism-specific databases

DisGeNET

More...DisGeNETi		2538

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		G6PC

MalaCards human disease database

More...MalaCardsi		G6PC
MIMi232200 phenotype

Open Targets

More...OpenTargetsi		ENSG00000131482

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

More...Orphaneti		79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA28468

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL2282

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		G6PC

Domain mapping of disease mutations (DMDM)

More...DMDMi		206729864

<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 describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000874131 – 357Glucose-6-phosphataseAdd BLAST357

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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>Glycosylationi96N-linked (GlcNAc...) asparagine2 Publications1

Keywords - PTMi

Glycoprotein

Proteomic databases

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

More...PaxDbi		P35575

PeptideAtlas

More...PeptideAtlasi		P35575

PRoteomics IDEntifications database

More...PRIDEi		P35575

ProteomicsDB human proteome resource

More...ProteomicsDBi		55092

PTM databases

DEPOD human dephosphorylation database

More...DEPODi		P35575

GlyConnect protein glycosylation platform

More...GlyConnecti		1267

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P35575

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

More...PhosphoSitePlusi		P35575

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000131482 Expressed in 58 organ(s), highest expression level in liver

CleanEx database of gene expression profiles

More...CleanExi		HS_G6PC

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P35575 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P35575 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA052324

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		108813, 3 interactors

Protein interaction database and analysis system

More...IntActi		P35575, 3 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000253801

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P35575

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		P35575

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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

<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

Belongs to the glucose-6-phosphatase family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IDXG Eukaryota
ENOG4110AJ7 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157844

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000264239

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG003560

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P35575

KEGG Orthology (KO)

More...KOi		K01084

Identification of Orthologs from Complete Genome Data

More...OMAi		RYLQVNY

Database of Orthologous Groups

More...OrthoDBi		743717at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P35575

TreeFam database of animal gene trees

More...TreeFami		TF324388

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR016275 Glucose-6-phosphatase
IPR036938 P_Acid_Pase_2/haloperoxi_sf
IPR000326 P_Acid_Pase_2/haloperoxidase

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01569 PAP2, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF000905 Glucose-6-phosphatase, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00014 acidPPc, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48317 SSF48317, 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: P35575-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MEEGMNVLHD FGIQSTHYLQ VNYQDSQDWF ILVSVIADLR NAFYVLFPIW 
        60         70         80         90        100
FHLQEAVGIK LLWVAVIGDW LNLVFKWILF GQRPYWWVLD TDYYSNTSVP 
       110        120        130        140        150
LIKQFPVTCE TGPGSPSGHA MGTAGVYYVM VTSTLSIFQG KIKPTYRFRC 
       160        170        180        190        200
LNVILWLGFW AVQLNVCLSR IYLAAHFPHQ VVAGVLSGIA VAETFSHIHS 
       210        220        230        240        250
IYNASLKKYF LITFFLFSFA IGFYLLLKGL GVDLLWTLEK AQRWCEQPEW 
       260        270        280        290        300
VHIDTTPFAS LLKNLGTLFG LGLALNSSMY RESCKGKLSK WLPFRLSSIV 
       310        320        330        340        350
ASLVLLHVFD SLKPPSQVEL VFYVLSFCKS AVVPLASVSV IPYCLAQVLG 

QPHKKSL
Length:357
Mass (Da):40,484
Last modified:September 23, 2008 - 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:i2FEA1C78928A9919
GO
Isoform 2 (identifier: P35575-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     115-175: SPSGHAMGTA...VCLSRIYLAA → KDKADLQISV...CRNFQPHPQH
     176-356: Missing.

Note: No experimental confirmation available.
Show »
Length:176
Mass (Da):20,209
Checksum:i9185BD4F9911B02D
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7ELS6K7ELS6_HUMAN
Glucose-6-phosphatase
G6PC
163Annotation score:

Annotation score:1 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAG64735 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

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 conflicti109C → R in BAG64735 (PubMed:14702039).Curated1
Sequence conflicti192A → T in AAA16222 (PubMed:8211187).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0462495M → R in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs1250172816Ensembl.1
Natural variantiVAR_04625016T → A in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs761839506Ensembl.1
Natural variantiVAR_04625116T → R in GSD1A; complete loss of activity and reduced enzyme stability. 1 Publication1
Natural variantiVAR_00920220Q → R in GSD1A. 2 Publications1
Natural variantiVAR_00523738D → V in GSD1A. 4 PublicationsCorresponds to variant dbSNP:rs104894565EnsemblClinVar.1
Natural variantiVAR_00920354Q → P in GSD1A. 3 PublicationsCorresponds to variant dbSNP:rs1057517008Ensembl.1
Natural variantiVAR_04625263W → R in GSD1A. 1 Publication1
Natural variantiVAR_04625365A → P in GSD1A. 1 Publication1
Natural variantiVAR_04625468G → R in GSD1A. 2 Publications1
Natural variantiVAR_04625576K → N in GSD1A; loss of catalytic activity. 2 Publications1
Natural variantiVAR_00523877W → R in GSD1A. 3 PublicationsCorresponds to variant dbSNP:rs104894566EnsemblClinVar.1
Natural variantiVAR_00920481G → R in GSD1A. 2 PublicationsCorresponds to variant dbSNP:rs756632286Ensembl.1
Natural variantiVAR_00523983R → C in GSD1A; complete loss of activity; prevalent mutation in Ashkenazi Jewish population. 12 PublicationsCorresponds to variant dbSNP:rs1801175EnsemblClinVar.1
Natural variantiVAR_00524083R → H in GSD1A. 3 PublicationsCorresponds to variant dbSNP:rs1801176EnsemblClinVar.1
Natural variantiVAR_00524183R → I in GSD1A. 1 Publication1
Natural variantiVAR_009205108T → I in GSD1A. 2 Publications1
Natural variantiVAR_005242110E → K in GSD1A. 3 PublicationsCorresponds to variant dbSNP:rs104894567EnsemblClinVar.1
Natural variantiVAR_046256111T → I in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs1203167759Ensembl.1
Natural variantiVAR_046257113P → L in GSD1A. 1 Publication1
Natural variantiVAR_035922116P → L in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_046258119H → L in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs1401928680Ensembl.1
Natural variantiVAR_046259122G → D in GSD1A. 2 PublicationsCorresponds to variant dbSNP:rs759982943Ensembl.1
Natural variantiVAR_005243124A → T in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs104894568EnsemblClinVar.1
Natural variantiVAR_009206156W → L in GSD1A. 2 PublicationsCorresponds to variant dbSNP:rs1189630738Ensembl.1
Natural variantiVAR_046260166V → A in GSD1A. 1 Publication1
Natural variantiVAR_005244166V → G in GSD1A; complete loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs104894571EnsemblClinVar.1
Natural variantiVAR_046261170R → Q in GSD1A; loss of catalytic activity. 3 PublicationsCorresponds to variant dbSNP:rs750470654Ensembl.1
Natural variantiVAR_046262177F → C in GSD1A. 1 Publication1
Natural variantiVAR_065164178P → A in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs763543607Ensembl.1
Natural variantiVAR_046263178P → S in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs763543607Ensembl.1
Natural variantiVAR_046264179H → P in GSD1A. 1 Publication1
Natural variantiVAR_005245184G → E in GSD1A. 2 PublicationsCorresponds to variant dbSNP:rs104894569EnsemblClinVar.1
Natural variantiVAR_046265184G → V in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs104894569EnsemblClinVar.1
Natural variantiVAR_009207188G → D in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs760981149Ensembl.1
Natural variantiVAR_005246188G → R in GSD1A; complete loss of activity. 5 PublicationsCorresponds to variant dbSNP:rs80356482EnsemblClinVar.1
Natural variantiVAR_046266188G → S in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs80356482EnsemblClinVar.1
Natural variantiVAR_046268209Y → C in GSD1A; complete loss of activity and reduced enzyme stability. 1 Publication1
Natural variantiVAR_005247211L → P in GSD1A. 1 Publication1
Natural variantiVAR_005248222G → R in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs1410392732Ensembl.1
Natural variantiVAR_046269236W → R in GSD1A. 1 Publication1
Natural variantiVAR_046270241A → T in GSD1A. 1 Publication1
Natural variantiVAR_065165255T → I in GSD1A. 1 Publication1
Natural variantiVAR_046271257P → L in GSD1A. 1 Publication1
Natural variantiVAR_046272264N → K in GSD1A. 1 Publication1
Natural variantiVAR_046273265L → P in GSD1A. 1 Publication1
Natural variantiVAR_005249266G → V in GSD1A. 1 Publication1
Natural variantiVAR_046274270G → R in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs1272803483Ensembl.1
Natural variantiVAR_005250270G → V in GSD1A. 3 PublicationsCorresponds to variant dbSNP:rs80356483EnsemblClinVar.1
Natural variantiVAR_046275270G → W in GSD1A. 1 Publication1
Natural variantiVAR_005251295R → C in GSD1A. 2 PublicationsCorresponds to variant dbSNP:rs104894563EnsemblClinVar.1
Natural variantiVAR_046276298S → P in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs770003650Ensembl.1
Natural variantiVAR_046277322F → L in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs1399520060Ensembl.1
Natural variantiVAR_005252327Missing in GSD1A. 2 Publications1
Natural variantiVAR_005253338V → F in GSD1A. 3 PublicationsCorresponds to variant dbSNP:rs367727229EnsemblClinVar.1
Natural variantiVAR_005254341I → N in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs387906505EnsemblClinVar.1
Natural variantiVAR_046278345L → R in GSD1A. 1 Publication1

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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_047558115 – 175SPSGH…IYLAA → KDKADLQISVLECHFVVGIL GCAAECLSVTNLPCCSFSSS SCCWSPVRHCCCRNFQPHPQ H in isoform 2. 1 PublicationAdd BLAST61
Alternative sequenceiVSP_047559176 – 356Missing in isoform 2. 1 PublicationAdd BLAST181

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
U01120 mRNA Translation: AAA16222.1
AK303771 mRNA Translation: BAG64735.1 Different initiation.
AK313982 mRNA Translation: BAG36695.1
AC016889 Genomic DNA No translation available.
BC130478 mRNA Translation: AAI30479.1
BC136369 mRNA Translation: AAI36370.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11446.1 [P35575-1]
CCDS59291.1 [P35575-2]

Protein sequence database of the Protein Information Resource

More...PIRi		A48251

NCBI Reference Sequences

More...RefSeqi		NP_000142.2, NM_000151.3 [P35575-1]
NP_001257326.1, NM_001270397.1 [P35575-2]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.212293
Hs.742566

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000253801; ENSP00000253801; ENSG00000131482 [P35575-1]
ENST00000592383; ENSP00000465958; ENSG00000131482 [P35575-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		2538

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2538

UCSC genome browser

More...UCSCi		uc002icb.3 human [P35575-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U01120 mRNA Translation: AAA16222.1
AK303771 mRNA Translation: BAG64735.1 Different initiation.
AK313982 mRNA Translation: BAG36695.1
AC016889 Genomic DNA No translation available.
BC130478 mRNA Translation: AAI30479.1
BC136369 mRNA Translation: AAI36370.1
CCDSiCCDS11446.1 [P35575-1]
CCDS59291.1 [P35575-2]
PIRiA48251
RefSeqiNP_000142.2, NM_000151.3 [P35575-1]
NP_001257326.1, NM_001270397.1 [P35575-2]
UniGeneiHs.212293
Hs.742566

3D structure databases

ProteinModelPortaliP35575
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108813, 3 interactors
IntActiP35575, 3 interactors
STRINGi9606.ENSP00000253801

Chemistry databases

BindingDBiP35575
ChEMBLiCHEMBL2282

PTM databases

DEPODiP35575
GlyConnecti1267
iPTMnetiP35575
PhosphoSitePlusiP35575

Polymorphism and mutation databases

BioMutaiG6PC
DMDMi206729864

Proteomic databases

PaxDbiP35575
PeptideAtlasiP35575
PRIDEiP35575
ProteomicsDBi55092

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		2538
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000253801; ENSP00000253801; ENSG00000131482 [P35575-1]
ENST00000592383; ENSP00000465958; ENSG00000131482 [P35575-2]
GeneIDi2538
KEGGihsa:2538
UCSCiuc002icb.3 human [P35575-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2538
DisGeNETi2538
EuPathDBiHostDB:ENSG00000131482.9

GeneCards: human genes, protein and diseases

More...GeneCardsi		G6PC
GeneReviewsiG6PC
HGNCiHGNC:4056 G6PC
HPAiHPA052324
MalaCardsiG6PC
MIMi232200 phenotype
613742 gene
neXtProtiNX_P35575
OpenTargetsiENSG00000131482
Orphaneti79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
PharmGKBiPA28468

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IDXG Eukaryota
ENOG4110AJ7 LUCA
GeneTreeiENSGT00940000157844
HOGENOMiHOG000264239
HOVERGENiHBG003560
InParanoidiP35575
KOiK01084
OMAiRYLQVNY
OrthoDBi743717at2759
PhylomeDBiP35575
TreeFamiTF324388

Enzyme and pathway databases

UniPathwayi
UPA00138

BioCyciMetaCyc:HS05538-MONOMER
BRENDAi3.1.3.9 2681
ReactomeiR-HSA-3274531 Glycogen storage disease type Ia (G6PC)
R-HSA-70263 Gluconeogenesis
SABIO-RKiP35575
SIGNORiP35575

Miscellaneous databases

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

More...ChiTaRSi		G6PC human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		G6PC

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

More...GenomeRNAii		2538

Protein Ontology

More...PROi		PR:P35575

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000131482 Expressed in 58 organ(s), highest expression level in liver
CleanExiHS_G6PC
ExpressionAtlasiP35575 baseline and differential
GenevisibleiP35575 HS

Family and domain databases

InterProiView protein in InterPro
IPR016275 Glucose-6-phosphatase
IPR036938 P_Acid_Pase_2/haloperoxi_sf
IPR000326 P_Acid_Pase_2/haloperoxidase
PfamiView protein in Pfam
PF01569 PAP2, 1 hit
PIRSFiPIRSF000905 Glucose-6-phosphatase, 1 hit
SMARTiView protein in SMART
SM00014 acidPPc, 1 hit
SUPFAMiSSF48317 SSF48317, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		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 nameiG6PC_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: P35575
Secondary accession number(s): A1L4C0, B4E1C3, K7EL82
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: September 23, 2008
Last modified: January 16, 2019
This is version 177 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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