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UniProtKB - Q9BUM1 (G6PC3_HUMAN)

Entry version 162 (29 Sep 2021)
Sequence version 2 (01 Mar 2004)
Previous versions | rss
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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 G6PC1 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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9BUM1

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

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000141349

<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

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 variants 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:rs118203971Ensembl.1
Natural variantiVAR_072761325L → R in SCN4. 1 Publication1
Dursun syndrome (DURSS)1 Publication
The disease is caused by variants 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 variant

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, Tbio

Genetic variation 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 or proteolytic cleavage.<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		G6PC3

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 adenohypophysis and 234 other tissues

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		ENSG00000141349, Low tissue specificity

<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		124957, 4 interactors

Protein interaction database and analysis system

More...IntActi		Q9BUM1, 4 interactors

Molecular INTeraction database

More...MINTi		Q9BUM1

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000269097

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9BUM1, 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

<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		ENOG502QS5D, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00950000183150

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9BUM1

Identification of Orthologs from Complete Genome Data

More...OMAi		IVPQVVM

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>
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>
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>
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:rs118203971Ensembl.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

<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

BioGRIDi124957, 4 interactors
IntActiQ9BUM1, 4 interactors
MINTiQ9BUM1
STRINGi9606.ENSP00000269097

PTM databases

DEPODiG6PC3
iPTMnetiQ9BUM1
PhosphoSitePlusiQ9BUM1
SwissPalmiQ9BUM1

Genetic variation databases

BioMutaiG6PC3
DMDMi74733234

Proteomic databases

EPDiQ9BUM1
jPOSTiQ9BUM1
MassIVEiQ9BUM1
MaxQBiQ9BUM1
PaxDbiQ9BUM1
PeptideAtlasiQ9BUM1
PRIDEiQ9BUM1
ProteomicsDBi79110

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		59289, 77 antibodies

The DNASU plasmid repository

More...DNASUi		92579

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
HPAiENSG00000141349, Low tissue specificity
MalaCardsiG6PC3
MIMi611045, gene
612541, phenotype
neXtProtiNX_Q9BUM1
OpenTargetsiENSG00000141349
Orphaneti331176, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
PharmGKBiPA134968446
VEuPathDBiHostDB:ENSG00000141349

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QS5D, Eukaryota
GeneTreeiENSGT00950000183150
InParanoidiQ9BUM1
OMAiIVPQVVM
OrthoDBi743717at2759
PhylomeDBiQ9BUM1
TreeFamiTF324388

Enzyme and pathway databases

UniPathwayiUPA00138
BioCyciMetaCyc:HS13873-MONOMER
BRENDAi3.1.3.9, 2681
PathwayCommonsiQ9BUM1
ReactomeiR-HSA-3282872, Severe congenital neutropenia type 4 (G6PC3)
R-HSA-70263, Gluconeogenesis
SABIO-RKiQ9BUM1

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		92579, 3 hits in 1017 CRISPR screens

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, Tbio

Protein Ontology

More...PROi		PR:Q9BUM1
RNActiQ9BUM1, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000141349, Expressed in adenohypophysis and 234 other tissues
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

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: September 29, 2021
This is version 162 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 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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. SIMILARITY comments
    Index of protein domains and families
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