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Q9BUM1

- G6PC3_HUMAN

UniProt

Q9BUM1 - G6PC3_HUMAN

Protein

Glucose-6-phosphatase 3

Gene

G6PC3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 112 (01 Oct 2014)
      Sequence version 2 (01 Mar 2004)
      Previous versions | rss
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    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

    Catalytic activityi

    D-glucose 6-phosphate + H2O = D-glucose + phosphate.1 Publication

    Enzyme regulationi

    Inhibited by vanadate.1 Publication

    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

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei79 – 791SubstrateSequence Analysis
    Active sitei114 – 1141Proton donorSequence Analysis
    Binding sitei161 – 1611SubstrateSequence Analysis
    Active sitei167 – 1671Nucleophile1 Publication

    GO - Molecular functioni

    1. glucose-6-phosphatase activity Source: UniProtKB-EC

    GO - Biological processi

    1. carbohydrate metabolic process Source: Reactome
    2. gluconeogenesis Source: UniProtKB-UniPathway
    3. glucose 6-phosphate metabolic process Source: Ensembl
    4. glucose-6-phosphate transport Source: Ensembl
    5. glucose transport Source: Reactome
    6. hexose transport Source: Reactome
    7. small molecule metabolic process Source: Reactome
    8. transmembrane transport Source: Reactome

    Keywords - Molecular functioni

    Hydrolase

    Keywords - Biological processi

    Gluconeogenesis

    Enzyme and pathway databases

    BioCyciMetaCyc:HS13873-MONOMER.
    ReactomeiREACT_212. Glucose transport.
    SABIO-RKQ9BUM1.
    UniPathwayiUPA00138.

    Names & Taxonomyi

    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
    Gene namesi
    Name:G6PC3
    Synonyms:UGRP
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:24861. G6PC3.

    Subcellular locationi

    Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: Reactome
    2. integral component of membrane Source: UniProtKB-KW
    3. membrane Source: UniProtKB

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]: A 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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti116 – 1161M → K in SCN4; the patient also carries mutation Thr-166 in ELANE. 1 Publication
    VAR_064508
    Natural varianti185 – 1851L → P in SCN4. 1 Publication
    VAR_055156
    Natural varianti189 – 1891R → Q in SCN4. 1 Publication
    Corresponds to variant rs140294222 [ dbSNP | Ensembl ].
    VAR_064510
    Natural varianti253 – 2531R → H in SCN4; the mutant protein has no phosphatase activity in vitro; electron microscopic studies show enlarged rough endoplasmic reticulum consistent with increased stress. 1 Publication
    VAR_055157
    Natural varianti260 – 2601G → R in SCN4; loss of function. 2 Publications
    VAR_064511
    Natural varianti262 – 2621G → R in SCN4. 1 Publication
    VAR_055158
    Dursun syndrome (DURSS) [MIM:612541]: A disease characterized by pulmonary arterial hypertension, cardiac abnormalities including secundum-type atrial septal defect, intermittent neutropenia, lymphopenia, monocytosis and anemia.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti116 – 1161M → V in DURSS. 1 Publication
    VAR_064509

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi79 – 791R → A: Loss of catalytic activity. 1 Publication
    Mutagenesisi114 – 1141H → A: Loss of catalytic activity. 1 Publication
    Mutagenesisi167 – 1671H → A: Loss of catalytic activity. 1 Publication

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi612541. phenotype.
    Orphaneti331176. Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency.
    PharmGKBiPA134968446.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 346346Glucose-6-phosphatase 3PRO_0000334512Add
    BLAST

    Proteomic databases

    MaxQBiQ9BUM1.
    PaxDbiQ9BUM1.
    PeptideAtlasiQ9BUM1.
    PRIDEiQ9BUM1.

    PTM databases

    PhosphoSiteiQ9BUM1.

    Expressioni

    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

    ArrayExpressiQ9BUM1.
    BgeeiQ9BUM1.
    CleanExiHS_G6PC3.
    GenevestigatoriQ9BUM1.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000269097.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BUM1.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2424LumenalSequence AnalysisAdd
    BLAST
    Topological domaini46 – 549CytoplasmicSequence Analysis
    Topological domaini76 – 11439LumenalSequence AnalysisAdd
    BLAST
    Topological domaini136 – 14611CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini165 – 1695LumenalSequence Analysis
    Topological domaini187 – 19711CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini219 – 25436LumenalSequence AnalysisAdd
    BLAST
    Topological domaini274 – 28310CytoplasmicSequence Analysis
    Topological domaini305 – 3073LumenalSequence Analysis
    Topological domaini329 – 34618CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei25 – 4521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei55 – 7521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei115 – 13521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei147 – 16418HelicalSequence AnalysisAdd
    BLAST
    Transmembranei170 – 18617HelicalSequence AnalysisAdd
    BLAST
    Transmembranei198 – 21821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei255 – 27319HelicalSequence AnalysisAdd
    BLAST
    Transmembranei284 – 30421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei308 – 32821HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the glucose-6-phosphatase family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG82628.
    HOGENOMiHOG000264239.
    HOVERGENiHBG003560.
    InParanoidiQ9BUM1.
    KOiK01084.
    OMAiKWFLFGD.
    OrthoDBiEOG73NG4N.
    PhylomeDBiQ9BUM1.
    TreeFamiTF324388.

    Family and domain databases

    Gene3Di1.20.144.10. 1 hit.
    InterProiIPR016275. Glucose-6-phosphatase.
    IPR000326. P_Acid_Pase_2/haloperoxidase.
    [Graphical view]
    PfamiPF01569. PAP2. 1 hit.
    [Graphical view]
    PIRSFiPIRSF000905. Glucose-6-phosphatase. 1 hit.
    SMARTiSM00014. acidPPc. 1 hit.
    [Graphical view]
    SUPFAMiSSF48317. SSF48317. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q9BUM1-1 [UniParc]FASTAAdd to Basket

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    MESTLGAGIV IAEALQNQLA WLENVWLWIT FLGDPKILFL FYFPAAYYAS    50
    RRVGIAVLWI SLITEWLNLI FKWFLFGDRP FWWVHESGYY SQAPAQVHQF 100
    PSSCETGPGS PSGHCMITGA ALWPIMTALS SQVATRARSR WVRVMPSLAY 150
    CTFLLAVGLS RIFILAHFPH QVLAGLITGA VLGWLMTPRV PMERELSFYG 200
    LTALALMLGT SLIYWTLFTL GLDLSWSISL AFKWCERPEW IHVDSRPFAS 250
    LSRDSGAALG LGIALHSPCY AQVRRAQLGN GQKIACLVLA MGLLGPLDWL 300
    GHPPQISLFY IFNFLKYTLW PCLVLALVPW AVHMFSAQEA PPIHSS 346
    Length:346
    Mass (Da):38,735
    Last modified:March 1, 2004 - v2
    Checksum:i55C1F322E59C8439
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti116 – 1161M → K in SCN4; the patient also carries mutation Thr-166 in ELANE. 1 Publication
    VAR_064508
    Natural varianti116 – 1161M → V in DURSS. 1 Publication
    VAR_064509
    Natural varianti185 – 1851L → P in SCN4. 1 Publication
    VAR_055156
    Natural varianti189 – 1891R → Q in SCN4. 1 Publication
    Corresponds to variant rs140294222 [ dbSNP | Ensembl ].
    VAR_064510
    Natural varianti216 – 2161T → I.
    Corresponds to variant rs34406052 [ dbSNP | Ensembl ].
    VAR_043378
    Natural varianti253 – 2531R → H in SCN4; the mutant protein has no phosphatase activity in vitro; electron microscopic studies show enlarged rough endoplasmic reticulum consistent with increased stress. 1 Publication
    VAR_055157
    Natural varianti260 – 2601G → R in SCN4; loss of function. 2 Publications
    VAR_064511
    Natural varianti262 – 2621G → R in SCN4. 1 Publication
    VAR_055158

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    UniGeneiHs.294005.

    Genome annotation databases

    EnsembliENST00000269097; ENSP00000269097; ENSG00000141349.
    GeneIDi92579.
    KEGGihsa:92579.
    UCSCiuc002iex.3. human.

    Polymorphism databases

    DMDMi74733234.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    CH471178 Genomic DNA. Translation: EAW51638.1 .
    BC002494 mRNA. Translation: AAH02494.2 .
    BC021574 mRNA. Translation: AAH21574.1 .
    CCDSi CCDS11476.1.
    RefSeqi NP_612396.1. NM_138387.3.
    UniGenei Hs.294005.

    3D structure databases

    ProteinModelPortali Q9BUM1.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000269097.

    PTM databases

    PhosphoSitei Q9BUM1.

    Polymorphism databases

    DMDMi 74733234.

    Proteomic databases

    MaxQBi Q9BUM1.
    PaxDbi Q9BUM1.
    PeptideAtlasi Q9BUM1.
    PRIDEi Q9BUM1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000269097 ; ENSP00000269097 ; ENSG00000141349 .
    GeneIDi 92579.
    KEGGi hsa:92579.
    UCSCi uc002iex.3. human.

    Organism-specific databases

    CTDi 92579.
    GeneCardsi GC17P042148.
    H-InvDB HIX0013874.
    HGNCi HGNC:24861. G6PC3.
    MIMi 611045. gene.
    612541. phenotype.
    neXtProti NX_Q9BUM1.
    Orphaneti 331176. Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency.
    PharmGKBi PA134968446.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG82628.
    HOGENOMi HOG000264239.
    HOVERGENi HBG003560.
    InParanoidi Q9BUM1.
    KOi K01084.
    OMAi KWFLFGD.
    OrthoDBi EOG73NG4N.
    PhylomeDBi Q9BUM1.
    TreeFami TF324388.

    Enzyme and pathway databases

    UniPathwayi UPA00138 .
    BioCyci MetaCyc:HS13873-MONOMER.
    Reactomei REACT_212. Glucose transport.
    SABIO-RK Q9BUM1.

    Miscellaneous databases

    ChiTaRSi G6PC3. human.
    GeneWikii G6PC3.
    GenomeRNAii 92579.
    NextBioi 77803.
    PROi Q9BUM1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BUM1.
    Bgeei Q9BUM1.
    CleanExi HS_G6PC3.
    Genevestigatori Q9BUM1.

    Family and domain databases

    Gene3Di 1.20.144.10. 1 hit.
    InterProi IPR016275. Glucose-6-phosphatase.
    IPR000326. P_Acid_Pase_2/haloperoxidase.
    [Graphical view ]
    Pfami PF01569. PAP2. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF000905. Glucose-6-phosphatase. 1 hit.
    SMARTi SM00014. acidPPc. 1 hit.
    [Graphical view ]
    SUPFAMi SSF48317. SSF48317. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Eye and Skin.
    3. "Identification and characterization of a human cDNA and gene encoding a ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein."
      Martin C.C., Oeser J.K., Svitek C.A., Hunter S.I., Hutton J.C., O'Brien R.M.
      J. Mol. Endocrinol. 29:205-222(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, TISSUE SPECIFICITY.
    4. "Identification and characterisation of a new human glucose-6-phosphatase isoform."
      Guionie O., Clottes E., Stafford K., Burchell A.
      FEBS Lett. 551:159-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, CATALYTIC ACTIVITY, BIOPHYSICOCHEMICAL PROPERTIES, TISSUE SPECIFICITY.
    5. "A glucose-6-phosphate hydrolase, widely expressed outside the liver, can explain age-dependent resolution of hypoglycemia in glycogen storage disease type Ia."
      Shieh J.-J., Pan C.-J., Mansfield B.C., Chou J.Y.
      J. Biol. Chem. 278:47098-47103(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, BIOPHYSICOCHEMICAL PROPERTIES, ENZYME REGULATION, SUBCELLULAR LOCATION, MUTAGENESIS OF ARG-79; HIS-114 AND HIS-167.
    6. "Histidine 167 is the phosphate acceptor in glucose-6-phosphatase-beta forming a phosphohistidine enzyme intermediate during catalysis."
      Ghosh A., Shieh J.-J., Pan C.-J., Chou J.Y.
      J. Biol. Chem. 279:12479-12483(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: TOPOLOGY, ACTIVE SITE.
    7. "Identification and characterization of a cDNA and the gene encoding the mouse ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein."
      Boustead J.N., Martin C.C., Oeser J.K., Svitek C.A., Hunter S.I., Hutton J.C., O'Brien R.M.
      J. Mol. Endocrinol. 32:33-53(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    8. Cited for: VARIANTS SCN4 PRO-185; HIS-253 AND ARG-262, CHARACTERIZATION OF VARIANT SCN4 HIS-253.
    9. Cited for: VARIANT DURSS VAL-116.
    10. "Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis."
      McDermott D.H., De Ravin S.S., Jun H.S., Liu Q., Priel D.A., Noel P., Takemoto C.M., Ojode T., Paul S.M., Dunsmore K.P., Hilligoss D., Marquesen M., Ulrick J., Kuhns D.B., Chou J.Y., Malech H.L., Murphy P.M.
      Blood 116:2793-2802(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SCN4 ARG-260, CHARACTERIZATION OF VARIANT SCN4 ARG-260.
    11. Cited for: VARIANTS SCN4 LYS-116; GLN-189 AND ARG-260.

    Entry informationi

    Entry nameiG6PC3_HUMAN
    AccessioniPrimary (citable) accession number: Q9BUM1
    Secondary accession number(s): Q8WU15
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 20, 2008
    Last sequence update: March 1, 2004
    Last modified: October 1, 2014
    This is version 112 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Caution

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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3