G6PC Gene
protein-coding GIFtS : 60
GC17P038306
glucose-6-phosphatase, catalytic subunit (Previous names: glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease) )Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database (Previous symbol: G6PT )
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Aliases & Descriptions for G6PC
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases EC 3.1.3.9 3 G-6-Pase 3 G6PT 2 , 3 , 5 G6Pase 3 G6Pase-alpha 3 GSD1 2 GSD1a 1 , 2 MGC163350 2
Descriptions Glucose-6-phosphatase alpha 3 glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease) 1 glucose-6-phosphatase, catalytic subunit 2
Search outside databases for aliases for G6PC genePrevious GC identifers: GC17M040566 GC17P043214 GC17P040961 GC17P041425
Summaries for G6PC (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for G6PC : Glucose-6-phosphatase is an integral membrane protein of the endoplasmic reticulum that catalyzesthe hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate. It is a key enzyme inglucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Defects in the enzymecause glycogen storage disease type I (von Gierke disease). [provided by RefSeq] UniProtKB/Swiss-Prot: G6PC_HUMAN, P35575 Function : Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. Forms with theglucose-6-phosphate transporter (SLC37A4/G6PT) the complex responsible for glucose productionthrough glycogenolysis and gluconeogenesis. Hence, it is the key enzyme in homeostatic regulationof blood glucose levels
Gene Wiki entry for G6PC
Genomic Location for G6PC
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the G6PC gene Entrez Gene cytogenetic band: 17q21 Ensembl cytogenetic band: 17q21.31 HGNC cytogenetic band: 17q21 G6PC Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 17 GeneLoc Exon Structure
GeneLoc location for GC17P038306:
(about GC identifiers )
Start:
38,306,341 bp from pter
End:
38,318,912 bp from pter
Size:
12,572 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000017.9 NT_010755.15 Proteins for G6PC
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: G6PC_HUMAN, P35575 (See
protein sequence )Recommended Name: Glucose-6-phosphatase Size : 357 amino acids; 40484 Da
Subcellular location : Endoplasmic reticulum membrane; Multi-pass membrane protein
Secondary accessions : A1L4C0
REFSEQ proteins: NP_000142.1 ENSEMBL proteins: ENSP00000253801 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6
):
About this table Antibodies for G6PC: Assays for G6PC:
Protein
Domains/ Families for G6PC(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P35575 ProtoNet protein and cluster: P35575
1 Blocks protein family : IPB000326 PA-phosphatase related phosphoesterase UniProtKB/Swiss-Prot: G6PC_HUMAN, P35575 Similarity : Belongs to the glucose-6-phosphatase family
Gene Function for G6PC
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
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Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
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Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
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SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000151 Applied Biosystems Silencer ® siRNAs for G6PC Sigma-Aldrich siRNA and siRNA Panels for G6PC Sigma-Aldrich shRNA for G6PC Explore Sigma-Aldrich super-pooled esiRNAs               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000151                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000151                                  untagged cDNA clone in CMV expression vector: NM_000151  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000151 UniProtKB/Swiss-Prot: G6PC_HUMAN, P35575 Function : Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. Forms with theglucose-6-phosphate transporter (SLC37A4/G6PT) the complex responsible for glucose productionthrough glycogenolysis and gluconeogenesis. Hence, it is the key enzyme in homeostatic regulationof blood glucose levels Catalytic activity : D-glucose 6-phosphate + H(2)O = D-glucose + phosphateEnzyme Number (IUBMB): EC 3.1.3.9
Genatlas biochemistry entry for G6PC :glucose-6-phosphatase,catalytic gluconeogenesis,energy pathway
9 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for G6pc) :4 Gene Ontology (GO) molecular function terms (links to tree view) :
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Pathways & Interactions for G6PC
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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5/9 Sigma-Aldrich "Your Favorite Gene" Pathways for G6PC (Your Favorite Gene powered by Ingenuity) (see all 9
) UniProtKB/Swiss-Prot: G6PC_HUMAN, P35575 Pathway : Carbohydrate biosynthesis; gluconeogenesis
5/71 Interacting proteins for G6PC (ENSP00000253801 3 ) via UniProtKB, MINT, and/or STRING (see all 71
)About this table 5/13 Gene Ontology (GO) biological process terms (links to tree view) (see all 13
):
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Drugs & Compounds for G6PC (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for G6PC 10/52 Novoseek chemical compound relationships for G6PC gene (see all 52
)
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
glucose 6-phosphate
88.81
188
18337460 (5), 11899241 (4), 10940311 (3), 11949931 (3) (see all 88 )
glycogen
87.92
188
10643970 (4), 7744838 (3), 11739393 (2), 9001800 (2) (see all 99 )
phosphoenolpyruvate
80.22
54
15047713 (2), 17211624 (2), 12570714 (1), 12914928 (1) (see all 40 )
glucose
73.94
555
8574017 (6), 10960473 (6), 2168325 (5), 9270716 (5) (see all 99 )
2-deoxy-d-glucose 6-phosphate
70.47
1
8772513 (1)
pyrophosphate
63.62
9
8605568 (1), 11386847 (1), 8385243 (1), 1311177 (1) (see all 6 )
fructose-6-phosphate
58.19
1
7733279 (1)
mannose 6-phosphate
56.81
10
8611029 (2), 7646448 (1), 16452245 (1), 1846754 (1) (see all 6 )
acadesine
49.00
2
10866040 (1), 11359348 (1)
fructose
47.65
12
15047713 (2), 8623151 (1), 16046162 (1), 15544551 (1) (see all 10 )
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Transcripts for G6PC(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
Tagged/untagged cDNA clones from
OriGene , Expression Assays from Applied Biosystems )About This Section
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              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000151 Sigma-Aldrich siRNA and siRNA Panels for G6PC Sigma-Aldrich shRNA for G6PC Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_000151
REFSEQ mRNAs for G6PC gene: NM_000151.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000151
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000151                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000151                                  untagged cDNA clone in CMV expression vector: NM_000151  
Additional cDNA sequence: AK303771.1 AK313982.1 BC130478.1 BC136369.1 U01120.1
3 DOTS entries : DT.110428 DT.97859344 DT.91651868
24 AceView cDNA sequences :AA862953 NM_000151 AV656553 U01120 BX110477 AW304142 BX496236 AI672173 H77746 AW614228 BX496198 BG569143 AV694195 CB162421 R02471 BX495293 AV686772 AV697108 AW611950 AV684739 AW337736 AI245594 R02365 AI244022
highest scoring ESTs for G6PC :U01120 AI245594 AI672173 AW304142 AW337736 BX110477 BX496198 R02365 R02471 AA862953
Unigene Cluster for G6PC: Glucose-6-phosphatase, catalytic subunit Hs.212293 [show with all ESTs ] Unigene Representative Sequence: NM_000151 GeneLoc Exon Structure 1 Ensembl transcript including schematic representation : ENST00000253801
Expression for G6PC
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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G6PC expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for G6PC 1 / 2 / 3
4 probe-sets matching G6PC gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene cluster: Hs.212293 Expression variation in blood from EXPOLDB for G6PC
Orthologs for G6PC
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for G6PC gene from 5/8 species (see all 8
)
About this table Species with no ortholog for G6PC ENSEMBL Gene Tree for G6PC Paralogs for G6PC (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for G6PC gene G6PC3 2 G6PC2 2
SNPs/Variants for G6PC (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for G6PC (up to first 250kb)
Disorders & Mutations for G6PC
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 232200 UniProtKB/Swiss-Prot: G6PC_HUMAN, P35575
Defects in G6PC are the cause of glycogen storage disease type 1A (GSD1A) [MIM:232200];also known as von Gierke disease. GSD1A is a metabolic disorder characterized by impairment ofterminal steps of glycogenolysis and gluconeogenesis. GSD1 patients manifest a wide range ofclinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly dueto excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia,hyperlipidemia, and hyperuricemia
10/50 Novoseek disease relationships for G6PC gene (see all 50
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
glycogen storage disease
96.21
140
7744838 (3), 11739393 (2), 9001800 (2), 8182131 (2) (see all 91 )
glycogen storage disease type i
95.63
44
7632512 (2), 7668282 (1), 7572155 (1), 11560001 (1) (see all 31 )
glycogen storage disease type vi
81.02
1
8728790 (1)
lactic acidemia
77.86
5
8949949 (2), 11899241 (1), 12189168 (1)
hyperuricemia
70.07
12
8949949 (2), 10625614 (1), 12713862 (1), 11899241 (1) (see all 7 )
fanconi-bickel syndrome
69.65
1
7632512 (1)
hepatomegaly
66.47
10
11899241 (1), 12189168 (1), 12846528 (1), 9259982 (1) (see all 6 )
hypoglycemia
60.85
12
8949949 (2), 10625614 (1), 11899241 (1), 17023421 (1) (see all 7 )
metabolic disorder
57.58
25
8953636 (1), 8641644 (1), 11386847 (1), 9001800 (1) (see all 15 )
glycogen storage disease type iv
52.62
2
8245377 (1)
About this table GeneTests: G6PC Glycogen Storage Disease Type I Human Gene Mutation Database : G6PC Genetic Association Database: G6PC Human Genome Epidemiology Navigator: G6PC (3 documents)
Medical News for G6PC (Possibly Related Articles in
Doctor's Guide )
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--
Publications for G6PC (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/402 PubMed articles for G6PC gene (see all 402
): The catalytic center of glucose-6-phosphatase. HIS176 is the nucleophile forming the phosphohistidine-enzyme intermediate during catalysis. (PubMed id 12093795) 1, 3, 4 Ghosh A.... Chou J.Y. (2002) Asparagine-linked oligosaccharides are localized to a luminal hydrophilic loop in human glucose-6-phosphatase. (PubMed id 9705299) 1, 3, 4 Pan C.J.... Chou J.Y. (1998) Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family. (PubMed id 9001800) 1, 3, 4 Lee W.J.... Lin W.H. (1996) Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. (PubMed id 7573034) 1, 3, 4 Lei K.-J....Chou J.Y. (1995) Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. (PubMed id 12373566) 1, 3, 4 Matern D....Chen Y.T. (2002) Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. (PubMed id 15316959) 1, 3, 6 Ekstein J....Risch N. (2004) Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells. (PubMed id 10748407) 1, 3, 4 Akanuma J....Narisawa K. (2000) Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. (PubMed id 10094563) 1, 3, 4 Rake J.P.... Scheffer H. (1999) Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia. (PubMed id 10447271) 1, 3, 4 Trioche P.... Labrune P. (1999) Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab. (PubMed id 7623438) 1, 3, 4 Parvari R.... Bashan N. (1995)
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Genome Databases showing G6PC
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing G6PC
(According to HUGE )
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--
Specialized Databases showing G6PC (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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Name Description
GeneReviews http://www.genetests.org/query?gene=G6PC
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-- Services for G6PC (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for G6PC:
Search Tocris compounds for G6PC
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Expression for G6PC
Function for G6PC
Location for G6PC
Medical News for G6PC
Orthologs for G6PC
Paralogs for G6PC
Pathways/Interactions for G6PC
Proteins for G6PC
Publications for G6PC
SNPs for G6PC
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Services for G6PC
Summaries for G6PC
Technologies for G6PC
Transcripts for G6PC
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009