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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

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

GO - Biological processi

  1. carbohydrate metabolic process Source: Reactome
  2. dephosphorylation Source: GOC
  3. gluconeogenesis Source: GO_Central
  4. glucose 6-phosphate metabolic process Source: GO_Central
  5. glucose-6-phosphate transport Source: Ensembl
  6. glucose transport Source: Reactome
  7. hexose transport Source: Reactome
  8. pathogenesis Source: Reactome
  9. small molecule metabolic process Source: Reactome
  10. transmembrane transport Source: Reactome
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

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

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

  1. endoplasmic reticulum membrane Source: Reactome
  2. integral component of endoplasmic reticulum membrane Source: GO_Central
  3. membrane Source: UniProtKB
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; increase in level of staurosporine-induced apoptosis in neutrophils. 3 Publications
VAR_072753
Natural varianti59 – 591W → R in SCN4. 1 Publication
VAR_072754
Natural varianti64 – 707Missing in SCN4; increase in level of spontaneous apoptosis in neutrophils. 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; electron microscopic studies show enlarged rough endoplasmic reticulum consistent with increased 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.
GenevestigatoriQ9BUM1.

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; increase in level of staurosporine-induced apoptosis in neutrophils. 3 Publications
VAR_072753
Natural varianti59 – 591W → R in SCN4. 1 Publication
VAR_072754
Natural varianti64 – 707Missing in SCN4; increase in level of spontaneous apoptosis in neutrophils. 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; electron microscopic studies show enlarged rough endoplasmic reticulum consistent with increased 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.

Polymorphism and mutation databases

BioMutaiG6PC3.

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.
GenevestigatoriQ9BUM1.

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: April 29, 2015
This is version 117 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.