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UniProtKB - Q9BUM1 (G6PC3_HUMAN)

Entry version 151 (16 Oct 2019)
Sequence version 2 (01 Mar 2004)
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Protein

Glucose-6-phosphatase 3

Gene

G6PC3

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. May form with the glucose-6-phosphate transporter (SLC37A4/G6PT) a ubiquitously expressed complex responsible for glucose production through glycogenolysis and gluconeogenesis. Probably required for normal neutrophil function.3 Publications

Caution

According to PubMed:12370122, it has no hydrolytic activity.Curated

<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 regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Inhibited by vanadate.1 Publication

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

8 times less active compared to G6PC under the same experimental conditions.
  1. KM=1.0 mM for glucose-6-phosphate (at pH 5.5)2 Publications
  2. KM=2.0 mM for glucose-6-phosphate (at pH 6.5)2 Publications

    <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 <a href="http://www.uniprot.org/help/function_section">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 sitei79SubstrateSequence analysis1
    <p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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 sitei114Proton donorSequence analysis1
    Binding sitei161SubstrateSequence analysis1
    Active sitei167Nucleophile1 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
    Complete GO annotation on QuickGO ...

    GO - Biological processi

    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:HS13873-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-3282872 Severe congenital neutropenia type 4 (G6PC3)
    R-HSA-70263 Gluconeogenesis

    SABIO-RK: Biochemical Reaction Kinetics Database

    More...    SABIO-RKi    		Q9BUM1

    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 3 (EC:3.1.3.9)
    Short name:
    G-6-Pase 3
    Short name:
    G6Pase 3
    Alternative name(s):
    Glucose-6-phosphatase beta
    Short name:
    G6Pase-beta
    Ubiquitous glucose-6-phosphatase catalytic subunit-related protein
    <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:G6PC3
    Synonyms:UGRP
    <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

    Human Gene Nomenclature Database

    More...    HGNCi    		HGNC:24861 G6PC3

    Online Mendelian Inheritance in Man (OMIM)

    More...    MIMi    		611045 gene

    neXtProt; the human protein knowledge platform

    More...    neXtProti    		NX_Q9BUM1

    <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

    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 – 24LumenalSequence analysisAdd BLAST24
    <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>Transmembranei25 – 45HelicalSequence analysisAdd BLAST21
    Topological domaini46 – 54CytoplasmicSequence analysis9
    Transmembranei55 – 75HelicalSequence analysisAdd BLAST21
    Topological domaini76 – 114LumenalSequence analysisAdd BLAST39
    Transmembranei115 – 135HelicalSequence analysisAdd BLAST21
    Topological domaini136 – 146CytoplasmicSequence analysisAdd BLAST11
    Transmembranei147 – 164HelicalSequence analysisAdd BLAST18
    Topological domaini165 – 169LumenalSequence analysis5
    Transmembranei170 – 186HelicalSequence analysisAdd BLAST17
    Topological domaini187 – 197CytoplasmicSequence analysisAdd BLAST11
    Transmembranei198 – 218HelicalSequence analysisAdd BLAST21
    Topological domaini219 – 254LumenalSequence analysisAdd BLAST36
    Transmembranei255 – 273HelicalSequence analysisAdd BLAST19
    Topological domaini274 – 283CytoplasmicSequence analysis10
    Transmembranei284 – 304HelicalSequence analysisAdd BLAST21
    Topological domaini305 – 307LumenalSequence analysis3
    Transmembranei308 – 328HelicalSequence analysisAdd BLAST21
    Topological domaini329 – 346CytoplasmicSequence analysisAdd BLAST18

    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

    Neutropenia, severe congenital 4, autosomal recessive (SCN4)10 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections.
    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_07317444P → L in SCN4; complete loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs762019955Ensembl.1
    Natural variantiVAR_07275344P → S in SCN4; complete loss of activity; purified neutrophils from patients have higher levels of spontaneous and staurosporine-induced apoptosis than controls. 3 PublicationsCorresponds to variant dbSNP:rs775224457EnsemblClinVar.1
    Natural variantiVAR_07275459W → R in SCN4. 1 PublicationCorresponds to variant dbSNP:rs752966267Ensembl.1
    Natural variantiVAR_07275564 – 70Missing in SCN4; purified neutrophils from patients have higher levels of spontaneous and staurosporine-induced apoptosis than controls. 1 Publication7
    Natural variantiVAR_073175116M → I in SCN4; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs1373865222Ensembl.1
    Natural variantiVAR_064508116M → K in SCN4; the patient also carries mutation Thr-166 in ELANE; complete loss of activity. 3 Publications1
    Natural variantiVAR_072756116M → T in SCN4; complete loss of activity. 2 Publications1
    Natural variantiVAR_064509116M → V in DURSS and SCN4; complete loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs267606834EnsemblClinVar.1
    Natural variantiVAR_073176118T → R in SCN4; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs766706036Ensembl.1
    Natural variantiVAR_072757139S → I in SCN4; partial loss of activity. 2 Publications1
    Natural variantiVAR_072758154L → P in SCN4; complete loss of activity. 2 Publications1
    Natural variantiVAR_073177161R → Q in SCN4; complete loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs1485073209Ensembl.1
    Natural variantiVAR_055156185L → P in SCN4; complete loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs118203969EnsemblClinVar.1
    Natural variantiVAR_064510189R → Q in SCN4; partial loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs140294222EnsemblClinVar.1
    Natural variantiVAR_072759208L → R in SCN4; complete loss of activity. 2 Publications1
    Natural variantiVAR_073178253R → C in SCN4. 1 PublicationCorresponds to variant dbSNP:rs765927570Ensembl.1
    Natural variantiVAR_055157253R → H in SCN4; complete loss of activity; peripheral-blood patient neutrophils have an increased rate of spontaneous apoptosis; transmission electron microscopy of patient bone marrow cells shows an enlarged rough endoplasmic reticulum in myeloid progenitor cells consistent with increased ER stress. 3 PublicationsCorresponds to variant dbSNP:rs118203968EnsemblClinVar.1
    Natural variantiVAR_072760260G → D in SCN4; complete loss of activity. 2 Publications1
    Natural variantiVAR_064511260G → R in SCN4; complete loss of activity. 4 PublicationsCorresponds to variant dbSNP:rs200478425EnsemblClinVar.1
    Natural variantiVAR_055158262G → R in SCN4. 1 PublicationCorresponds to variant dbSNP:rs118203971EnsemblClinVar.1
    Natural variantiVAR_072761325L → R in SCN4. 1 Publication1
    Dursun syndrome (DURSS)1 Publication
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA disease characterized by pulmonary arterial hypertension, cardiac abnormalities including secundum-type atrial septal defect, intermittent neutropenia, lymphopenia, monocytosis and anemia.
    Related information in OMIM
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_064509116M → V in DURSS and SCN4; complete loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs267606834EnsemblClinVar.1

    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>Mutagenesisi79R → A: Loss of catalytic activity. 1 Publication1
    Mutagenesisi114H → A: Loss of catalytic activity. 1 Publication1
    Mutagenesisi167H → A: Loss of catalytic activity. 1 Publication1

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    DisGeNET

    More...    DisGeNETi    		92579

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

    More...    GeneReviewsi    		G6PC3

    MalaCards human disease database

    More...    MalaCardsi    		G6PC3
    MIMi612541 phenotype

    Open Targets

    More...    OpenTargetsi    		ENSG00000141349

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

    More...    Orphaneti    		331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...    PharmGKBi    		PA134968446

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...    Pharosi    		Q9BUM1

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...    BioMutai    		G6PC3

    Domain mapping of disease mutations (DMDM)

    More...    DMDMi    		74733234

    <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_00003345121 – 346Glucose-6-phosphatase 3Add BLAST346

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...    EPDi    		Q9BUM1

    jPOST - Japan Proteome Standard Repository/Database

    More...    jPOSTi    		Q9BUM1

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...    MassIVEi    		Q9BUM1

    MaxQB - The MaxQuant DataBase

    More...    MaxQBi    		Q9BUM1

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

    More...    PaxDbi    		Q9BUM1

    PeptideAtlas

    More...    PeptideAtlasi    		Q9BUM1

    PRoteomics IDEntifications database

    More...    PRIDEi    		Q9BUM1

    ProteomicsDB: a multi-organism proteome resource

    More...    ProteomicsDBi    		79110

    PTM databases

    DEPOD human dephosphorylation database

    More...    DEPODi    		Q9BUM1

    iPTMnet integrated resource for PTMs in systems biology context

    More...    iPTMneti    		Q9BUM1

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

    More...    PhosphoSitePlusi    		Q9BUM1

    SwissPalm database of S-palmitoylation events

    More...    SwissPalmi    		Q9BUM1

    <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

    Ubiquitously expressed. Highly expressed in skeletal muscle, at intermediate levels in heart, brain, placenta, kidney, colon, thymus, spleen and pancreas. Also detected in testis, prostate, ovary, liver, lung, small intestine and peripheral blood lymphocytes.3 Publications

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...    Bgeei    		ENSG00000141349 Expressed in 220 organ(s), highest expression level in adenohypophysis

    ExpressionAtlas, Differential and Baseline Expression

    More...    ExpressionAtlasi    		Q9BUM1 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...    Genevisiblei    		Q9BUM1 HS

    Organism-specific databases

    Human Protein Atlas

    More...    HPAi    		HPA067052

    <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

    Protein interaction database and analysis system

    More...    IntActi    		Q9BUM1, 3 interactors

    Molecular INTeraction database

    More...    MINTi    		Q9BUM1

    STRING: functional protein association networks

    More...    STRINGi    		9606.ENSP00000269097

    <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    		ENSGT00950000183150

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...    HOGENOMi    		HOG000264239

    InParanoid: Eukaryotic Ortholog Groups

    More...    InParanoidi    		Q9BUM1

    KEGG Orthology (KO)

    More...    KOi    		K01084

    Identification of Orthologs from Complete Genome Data

    More...    OMAi    		LVPWVVH

    Database of Orthologous Groups

    More...    OrthoDBi    		743717at2759

    Database for complete collections of gene phylogenies

    More...    PhylomeDBi    		Q9BUM1

    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>. 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>Sequence (1+)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 has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All

    Q9BUM1-1 [UniParc]FASTAAdd to basket
    « Hide
            10         20         30         40         50
    MESTLGAGIV IAEALQNQLA WLENVWLWIT FLGDPKILFL FYFPAAYYAS 
            60         70         80         90        100
    RRVGIAVLWI SLITEWLNLI FKWFLFGDRP FWWVHESGYY SQAPAQVHQF 
           110        120        130        140        150
    PSSCETGPGS PSGHCMITGA ALWPIMTALS SQVATRARSR WVRVMPSLAY 
           160        170        180        190        200
    CTFLLAVGLS RIFILAHFPH QVLAGLITGA VLGWLMTPRV PMERELSFYG 
           210        220        230        240        250
    LTALALMLGT SLIYWTLFTL GLDLSWSISL AFKWCERPEW IHVDSRPFAS 
           260        270        280        290        300
    LSRDSGAALG LGIALHSPCY AQVRRAQLGN GQKIACLVLA MGLLGPLDWL 
           310        320        330        340 
    GHPPQISLFY IFNFLKYTLW PCLVLALVPW AVHMFSAQEA PPIHSS
    Length:346
    Mass (Da):38,735
    Last modified:March 1, 2004 - 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:i55C1F322E59C8439
    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 are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    		Gene namesLengthAnnotation
    K7ESE6K7ESE6_HUMAN
    Glucose-6-phosphatase 3
    G6PC3
    		243Annotation 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>
    K7EQ13K7EQ13_HUMAN
    Glucose-6-phosphatase 3
    G6PC3
    		72Annotation 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>
    K7ENK1K7ENK1_HUMAN
    Glucose-6-phosphatase 3
    G6PC3
    		73Annotation 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>
    K7EJC5K7EJC5_HUMAN
    Glucose-6-phosphatase 3
    G6PC3
    		69Annotation 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>

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_07317444P → L in SCN4; complete loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs762019955Ensembl.1
    Natural variantiVAR_07275344P → S in SCN4; complete loss of activity; purified neutrophils from patients have higher levels of spontaneous and staurosporine-induced apoptosis than controls. 3 PublicationsCorresponds to variant dbSNP:rs775224457EnsemblClinVar.1
    Natural variantiVAR_07275459W → R in SCN4. 1 PublicationCorresponds to variant dbSNP:rs752966267Ensembl.1
    Natural variantiVAR_07275564 – 70Missing in SCN4; purified neutrophils from patients have higher levels of spontaneous and staurosporine-induced apoptosis than controls. 1 Publication7
    Natural variantiVAR_073175116M → I in SCN4; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs1373865222Ensembl.1
    Natural variantiVAR_064508116M → K in SCN4; the patient also carries mutation Thr-166 in ELANE; complete loss of activity. 3 Publications1
    Natural variantiVAR_072756116M → T in SCN4; complete loss of activity. 2 Publications1
    Natural variantiVAR_064509116M → V in DURSS and SCN4; complete loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs267606834EnsemblClinVar.1
    Natural variantiVAR_073176118T → R in SCN4; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs766706036Ensembl.1
    Natural variantiVAR_072757139S → I in SCN4; partial loss of activity. 2 Publications1
    Natural variantiVAR_072758154L → P in SCN4; complete loss of activity. 2 Publications1
    Natural variantiVAR_073177161R → Q in SCN4; complete loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs1485073209Ensembl.1
    Natural variantiVAR_055156185L → P in SCN4; complete loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs118203969EnsemblClinVar.1
    Natural variantiVAR_064510189R → Q in SCN4; partial loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs140294222EnsemblClinVar.1
    Natural variantiVAR_072759208L → R in SCN4; complete loss of activity. 2 Publications1
    Natural variantiVAR_043378216T → I. Corresponds to variant dbSNP:rs34406052EnsemblClinVar.1
    Natural variantiVAR_073178253R → C in SCN4. 1 PublicationCorresponds to variant dbSNP:rs765927570Ensembl.1
    Natural variantiVAR_055157253R → H in SCN4; complete loss of activity; peripheral-blood patient neutrophils have an increased rate of spontaneous apoptosis; transmission electron microscopy of patient bone marrow cells shows an enlarged rough endoplasmic reticulum in myeloid progenitor cells consistent with increased ER stress. 3 PublicationsCorresponds to variant dbSNP:rs118203968EnsemblClinVar.1
    Natural variantiVAR_072760260G → D in SCN4; complete loss of activity. 2 Publications1
    Natural variantiVAR_064511260G → R in SCN4; complete loss of activity. 4 PublicationsCorresponds to variant dbSNP:rs200478425EnsemblClinVar.1
    Natural variantiVAR_055158262G → R in SCN4. 1 PublicationCorresponds to variant dbSNP:rs118203971EnsemblClinVar.1
    Natural variantiVAR_072761325L → R in SCN4. 1 Publication1

    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
    		CH471178 Genomic DNA Translation: EAW51638.1
    BC002494 mRNA Translation: AAH02494.2
    BC021574 mRNA Translation: AAH21574.1

    The Consensus CDS (CCDS) project

    More...    CCDSi    		CCDS11476.1

    NCBI Reference Sequences

    More...    RefSeqi    		NP_612396.1, NM_138387.3

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...    Ensembli    		ENST00000269097; ENSP00000269097; ENSG00000141349

    Database of genes from NCBI RefSeq genomes

    More...    GeneIDi    		92579

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...    KEGGi    		hsa:92579

    UCSC genome browser

    More...    UCSCi    		uc002iex.4 human

    Keywords - Coding sequence diversityi

    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
    		CH471178 Genomic DNA Translation: EAW51638.1
    BC002494 mRNA Translation: AAH02494.2
    BC021574 mRNA Translation: AAH21574.1
    CCDSiCCDS11476.1
    RefSeqiNP_612396.1, NM_138387.3

    3D structure databases

    Database of comparative protein structure models

    More...    ModBasei    		Search...

    SWISS-MODEL Interactive Workspace

    More...    SWISS-MODEL-Workspacei    		Submit a new modelling project...

    Protein-protein interaction databases

    IntActiQ9BUM1, 3 interactors
    MINTiQ9BUM1
    STRINGi9606.ENSP00000269097

    PTM databases

    DEPODiQ9BUM1
    iPTMnetiQ9BUM1
    PhosphoSitePlusiQ9BUM1
    SwissPalmiQ9BUM1

    Polymorphism and mutation databases

    BioMutaiG6PC3
    DMDMi74733234

    Proteomic databases

    EPDiQ9BUM1
    jPOSTiQ9BUM1
    MassIVEiQ9BUM1
    MaxQBiQ9BUM1
    PaxDbiQ9BUM1
    PeptideAtlasiQ9BUM1
    PRIDEiQ9BUM1
    ProteomicsDBi79110

    Genome annotation databases

    EnsembliENST00000269097; ENSP00000269097; ENSG00000141349
    GeneIDi92579
    KEGGihsa:92579
    UCSCiuc002iex.4 human

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...    CTDi    		92579
    DisGeNETi92579

    GeneCards: human genes, protein and diseases

    More...    GeneCardsi    		G6PC3
    GeneReviewsiG6PC3
    HGNCiHGNC:24861 G6PC3
    HPAiHPA067052
    MalaCardsiG6PC3
    MIMi611045 gene
    612541 phenotype
    neXtProtiNX_Q9BUM1
    OpenTargetsiENSG00000141349
    Orphaneti331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
    PharmGKBiPA134968446

    GenAtlas: human gene database

    More...    GenAtlasi    		Search...

    Phylogenomic databases

    eggNOGiENOG410IDXG Eukaryota
    ENOG4110AJ7 LUCA
    GeneTreeiENSGT00950000183150
    HOGENOMiHOG000264239
    InParanoidiQ9BUM1
    KOiK01084
    OMAiLVPWVVH
    OrthoDBi743717at2759
    PhylomeDBiQ9BUM1
    TreeFamiTF324388

    Enzyme and pathway databases

    UniPathwayiUPA00138
    BioCyciMetaCyc:HS13873-MONOMER
    BRENDAi3.1.3.9 2681
    ReactomeiR-HSA-3282872 Severe congenital neutropenia type 4 (G6PC3)
    R-HSA-70263 Gluconeogenesis
    SABIO-RKiQ9BUM1

    Miscellaneous databases

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

    More...    ChiTaRSi    		G6PC3 human

    The Gene Wiki collection of pages on human genes and proteins

    More...    GeneWikii    		G6PC3

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

    More...    GenomeRNAii    		92579
    PharosiQ9BUM1

    Protein Ontology

    More...    PROi    		PR:Q9BUM1

    The Stanford Online Universal Resource for Clones and ESTs

    More...    SOURCEi    		Search...

    Gene expression databases

    BgeeiENSG00000141349 Expressed in 220 organ(s), highest expression level in adenohypophysis
    ExpressionAtlasiQ9BUM1 baseline and differential
    GenevisibleiQ9BUM1 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...

    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 nameiG6PC3_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: Q9BUM1
    Secondary accession number(s): Q8WU15
    <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: May 20, 2008
    Last sequence update: March 1, 2004
    Last modified: October 16, 2019
    This is version 151 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. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    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. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    6. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
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