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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-Experimental evidence at protein leveli

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

    Pathway: 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)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei79 – 791SubstrateSequence Analysis
    Active sitei114 – 1141Proton donorSequence Analysis
    Binding sitei161 – 1611SubstrateSequence Analysis
    Active sitei167 – 1671Nucleophile1 Publication

    GO - Molecular functioni

    • glucose-6-phosphatase activity Source: UniProtKB

    GO - Biological processi

    Complete GO annotation...

    Keywords - Molecular functioni

    Hydrolase

    Keywords - Biological processi

    Gluconeogenesis

    Enzyme and pathway databases

    BioCyciMetaCyc:HS13873-MONOMER.
    BRENDAi3.1.3.9. 2681.
    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 Componenti: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:24861. G6PC3.

    Subcellular locationi

    Topology

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2424LumenalSequence AnalysisAdd
    BLAST
    Transmembranei25 – 4521HelicalSequence AnalysisAdd
    BLAST
    Topological domaini46 – 549CytoplasmicSequence Analysis
    Transmembranei55 – 7521HelicalSequence AnalysisAdd
    BLAST
    Topological domaini76 – 11439LumenalSequence AnalysisAdd
    BLAST
    Transmembranei115 – 13521HelicalSequence AnalysisAdd
    BLAST
    Topological domaini136 – 14611CytoplasmicSequence AnalysisAdd
    BLAST
    Transmembranei147 – 16418HelicalSequence AnalysisAdd
    BLAST
    Topological domaini165 – 1695LumenalSequence Analysis
    Transmembranei170 – 18617HelicalSequence AnalysisAdd
    BLAST
    Topological domaini187 – 19711CytoplasmicSequence AnalysisAdd
    BLAST
    Transmembranei198 – 21821HelicalSequence AnalysisAdd
    BLAST
    Topological domaini219 – 25436LumenalSequence AnalysisAdd
    BLAST
    Transmembranei255 – 27319HelicalSequence AnalysisAdd
    BLAST
    Topological domaini274 – 28310CytoplasmicSequence Analysis
    Transmembranei284 – 30421HelicalSequence AnalysisAdd
    BLAST
    Topological domaini305 – 3073LumenalSequence Analysis
    Transmembranei308 – 32821HelicalSequence AnalysisAdd
    BLAST
    Topological domaini329 – 34618CytoplasmicSequence AnalysisAdd
    BLAST

    GO - Cellular componenti

    Complete GO annotation...

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    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.

    See also OMIM:612541
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti44 – 441P → L in SCN4; complete loss of activity. 2 Publications
    VAR_073174
    Natural varianti44 – 441P → S in SCN4; complete loss of activity; purified neutrophils from patients have higher levels of spontaneous and staurosporine-induced apoptosis than controls. 3 Publications
    VAR_072753
    Natural varianti59 – 591W → R in SCN4. 1 Publication
    VAR_072754
    Natural varianti64 – 707Missing in SCN4; purified neutrophils from patients have higher levels of spontaneous and staurosporine-induced apoptosis than controls. 1 Publication
    VAR_072755
    Natural varianti116 – 1161M → I in SCN4; complete loss of activity. 1 Publication
    VAR_073175
    Natural varianti116 – 1161M → K in SCN4; the patient also carries mutation Thr-166 in ELANE; complete loss of activity. 3 Publications
    VAR_064508
    Natural varianti116 – 1161M → T in SCN4; complete loss of activity. 2 Publications
    VAR_072756
    Natural varianti116 – 1161M → V in DURSS and SCN4; complete loss of activity. 2 Publications
    VAR_064509
    Natural varianti118 – 1181T → R in SCN4; complete loss of activity. 1 Publication
    VAR_073176
    Natural varianti139 – 1391S → I in SCN4; partial loss of activity. 2 Publications
    VAR_072757
    Natural varianti154 – 1541L → P in SCN4; complete loss of activity. 2 Publications
    VAR_072758
    Natural varianti161 – 1611R → Q in SCN4; complete loss of activity. 2 Publications
    VAR_073177
    Natural varianti185 – 1851L → P in SCN4; complete loss of activity. 2 Publications
    VAR_055156
    Natural varianti189 – 1891R → Q in SCN4; partial loss of activity. 2 Publications
    Corresponds to variant rs140294222 [ dbSNP | Ensembl ].
    VAR_064510
    Natural varianti208 – 2081L → R in SCN4; complete loss of activity. 2 Publications
    VAR_072759
    Natural varianti253 – 2531R → C in SCN4. 1 Publication
    VAR_073178
    Natural varianti253 – 2531R → 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 Publications
    VAR_055157
    Natural varianti260 – 2601G → D in SCN4; complete loss of activity. 2 Publications
    VAR_072760
    Natural varianti260 – 2601G → R in SCN4; complete loss of activity. 4 Publications
    VAR_064511
    Natural varianti262 – 2621G → R in SCN4. 1 Publication
    VAR_055158
    Natural varianti325 – 3251L → R in SCN4. 1 Publication
    VAR_072761
    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.

    See also OMIM:612541
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti116 – 1161M → V in DURSS and SCN4; complete loss of activity. 2 Publications
    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.

    Polymorphism and mutation databases

    BioMutaiG6PC3.
    DMDMi74733234.

    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

    DEPODiQ9BUM1.
    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

    BgeeiQ9BUM1.
    CleanExiHS_G6PC3.
    ExpressionAtlasiQ9BUM1. baseline and differential.
    GenevisibleiQ9BUM1. HS.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000269097.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BUM1.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the glucose-6-phosphatase family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG82628.
    GeneTreeiENSGT00510000046465.
    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

    « 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
    Checksum:i55C1F322E59C8439
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti44 – 441P → L in SCN4; complete loss of activity. 2 Publications
    VAR_073174
    Natural varianti44 – 441P → S in SCN4; complete loss of activity; purified neutrophils from patients have higher levels of spontaneous and staurosporine-induced apoptosis than controls. 3 Publications
    VAR_072753
    Natural varianti59 – 591W → R in SCN4. 1 Publication
    VAR_072754
    Natural varianti64 – 707Missing in SCN4; purified neutrophils from patients have higher levels of spontaneous and staurosporine-induced apoptosis than controls. 1 Publication
    VAR_072755
    Natural varianti116 – 1161M → I in SCN4; complete loss of activity. 1 Publication
    VAR_073175
    Natural varianti116 – 1161M → K in SCN4; the patient also carries mutation Thr-166 in ELANE; complete loss of activity. 3 Publications
    VAR_064508
    Natural varianti116 – 1161M → T in SCN4; complete loss of activity. 2 Publications
    VAR_072756
    Natural varianti116 – 1161M → V in DURSS and SCN4; complete loss of activity. 2 Publications
    VAR_064509
    Natural varianti118 – 1181T → R in SCN4; complete loss of activity. 1 Publication
    VAR_073176
    Natural varianti139 – 1391S → I in SCN4; partial loss of activity. 2 Publications
    VAR_072757
    Natural varianti154 – 1541L → P in SCN4; complete loss of activity. 2 Publications
    VAR_072758
    Natural varianti161 – 1611R → Q in SCN4; complete loss of activity. 2 Publications
    VAR_073177
    Natural varianti185 – 1851L → P in SCN4; complete loss of activity. 2 Publications
    VAR_055156
    Natural varianti189 – 1891R → Q in SCN4; partial loss of activity. 2 Publications
    Corresponds to variant rs140294222 [ dbSNP | Ensembl ].
    VAR_064510
    Natural varianti208 – 2081L → R in SCN4; complete loss of activity. 2 Publications
    VAR_072759
    Natural varianti216 – 2161T → I.
    Corresponds to variant rs34406052 [ dbSNP | Ensembl ].
    VAR_043378
    Natural varianti253 – 2531R → C in SCN4. 1 Publication
    VAR_073178
    Natural varianti253 – 2531R → 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 Publications
    VAR_055157
    Natural varianti260 – 2601G → D in SCN4; complete loss of activity. 2 Publications
    VAR_072760
    Natural varianti260 – 2601G → R in SCN4; complete loss of activity. 4 Publications
    VAR_064511
    Natural varianti262 – 2621G → R in SCN4. 1 Publication
    VAR_055158
    Natural varianti325 – 3251L → R in SCN4. 1 Publication
    VAR_072761

    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.
    UniGeneiHs.294005.

    Genome annotation databases

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

    Keywords - Coding sequence diversityi

    Polymorphism

    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.
    UniGeneiHs.294005.

    3D structure databases

    ProteinModelPortaliQ9BUM1.
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    STRINGi9606.ENSP00000269097.

    PTM databases

    DEPODiQ9BUM1.
    PhosphoSiteiQ9BUM1.

    Polymorphism and mutation databases

    BioMutaiG6PC3.
    DMDMi74733234.

    Proteomic databases

    MaxQBiQ9BUM1.
    PaxDbiQ9BUM1.
    PeptideAtlasiQ9BUM1.
    PRIDEiQ9BUM1.

    Protocols and materials databases

    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

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

    Organism-specific databases

    CTDi92579.
    GeneCardsiGC17P042148.
    H-InvDBHIX0013874.
    HGNCiHGNC:24861. G6PC3.
    MIMi611045. gene.
    612541. phenotype.
    neXtProtiNX_Q9BUM1.
    Orphaneti331176. Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency.
    PharmGKBiPA134968446.
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiNOG82628.
    GeneTreeiENSGT00510000046465.
    HOGENOMiHOG000264239.
    HOVERGENiHBG003560.
    InParanoidiQ9BUM1.
    KOiK01084.
    OMAiKWFLFGD.
    OrthoDBiEOG73NG4N.
    PhylomeDBiQ9BUM1.
    TreeFamiTF324388.

    Enzyme and pathway databases

    UniPathwayiUPA00138.
    BioCyciMetaCyc:HS13873-MONOMER.
    BRENDAi3.1.3.9. 2681.
    ReactomeiREACT_212. Glucose transport.
    SABIO-RKQ9BUM1.

    Miscellaneous databases

    ChiTaRSiG6PC3. human.
    GeneWikiiG6PC3.
    GenomeRNAii92579.
    NextBioi77803.
    PROiQ9BUM1.
    SOURCEiSearch...

    Gene expression databases

    BgeeiQ9BUM1.
    CleanExiHS_G6PC3.
    ExpressionAtlasiQ9BUM1. baseline and differential.
    GenevisibleiQ9BUM1. HS.

    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.
    ProtoNetiSearch...

    Publicationsi

    « Hide 'large scale' publications
    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.
    12. "Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia."
      Smith B.N., Evans C., Ali A., Ancliff P.J., Hayee B., Segal A.W., Hall G., Kaya Z., Shakoori A.R., Linch D.C., Gale R.E.
      Br. J. Haematol. 158:146-149(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS SCN4 SER-44; 64-THR--ILE-70 DEL AND ARG-208, CHARACTERIZATION OF VARIANTS SCN4 SER-44 AND 64-THR--ILE-70 DEL.
    13. "Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia."
      Boztug K., Rosenberg P.S., Dorda M., Banka S., Moulton T., Curtin J., Rezaei N., Corns J., Innis J.W., Avci Z., Tran H.C., Pellier I., Pierani P., Fruge R., Parvaneh N., Mamishi S., Mody R., Darbyshire P.
      , Motwani J., Murray J., Buchanan G.R., Newman W.G., Alter B.P., Boxer L.A., Donadieu J., Welte K., Klein C.
      J. Pediatr. 160:679-683(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS SCN4 LEU-44; LYS-116; ILE-139; GLN-161; HIS-253; ARG-260 AND ASP-260.
    14. "A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family."
      Alangari A.A., Alsultan A., Osman M.E., Anazi S., Alkuraya F.S.
      J. Clin. Immunol. 33:1403-1406(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SCN4 ARG-325.
    15. "G6PC3 mutations cause non-syndromic severe congenital neutropenia."
      Banka S., Wynn R., Byers H., Arkwright P.D., Newman W.G.
      Mol. Genet. Metab. 108:138-141(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS SCN4 SER-44; THR-116 AND CYS-253.
    16. "A novel G6PC3 gene mutation in a patient with severe congenital neutropenia."
      Aytekin C., Germeshausen M., Tuygun N., Dogu F., Ikinciogullari A.
      J. Pediatr. Hematol. Oncol. 35:E81-E83(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SCN4 PRO-154.
    17. "A novel G6PC3 gene mutation in severe congenital neutropenia: pancytopenia and variable bone marrow phenotype can also be part of this syndrome."
      Arikoglu T., Kuyucu N., Germeshausen M., Kuyucu S.
      Eur. J. Haematol. 94:79-82(2015) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SCN4 ARG-59.
    18. "Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-beta deficiency."
      Lin S.R., Pan C.J., Mansfield B.C., Chou J.Y.
      Mol. Genet. Metab. 114:41-45(2015) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANTS SCN4 LEU-44; SER-44; ILE-116; LYS-116; THR-116; VAL-116; ARG-118; ILE-139; PRO-154; GLN-161; PRO-185; GLN-189; ARG-208; HIS-253; ARG-260 AND ASP-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: June 24, 2015
    This is version 119 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

    Similar proteinsi

    Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
    100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
    90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
    50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.