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Q9BUM1

- G6PC3_HUMAN

UniProt

Q9BUM1 - G6PC3_HUMAN

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Protein

Glucose-6-phosphatase 3

Gene

G6PC3

Organism
Homo sapiens (Human)
Status
Reviewed - 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-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
Complete GO annotation...

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

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 membrane Source: UniProtKB-KW
  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) [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

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 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:
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 databases

DMDMi74733234.

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 .
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.
GeneTreei ENSGT00510000046465.
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

Bgeei Q9BUM1.
CleanExi HS_G6PC3.
ExpressionAtlasi Q9BUM1. baseline and differential.
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

« 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.

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 29, 2014
This is version 113 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