Homo sapiens Gene: G6PC

Summary
InnateDB Gene IDBG-51938.5
Last Modified 2012-02-14   [Report errors or provide feedback]
Gene Symbol G6PC
Gene Name glucose-6-phosphatase, catalytic subunit
Synonyms G6PC1; G6PT; GSD1; GSD1a
Species Homo sapiens
Ensembl Gene ENSG00000131482
Encoded Proteins
IDBP-51940 glucose-6-phosphatase, catalytic subunit
IDBP-761811
IDBP-762040
Entrez Gene
Summary Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys.[provided by RefSeq, Feb 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 17: 41052814-41065386
Strand Forward strand
Band q21.31
Transcripts
ENST00000253801  ENSP00000253801
ENST00000585489  ENSP00000466202
ENST00000592383  ENSP00000465958
ENST00000588481 
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
Experimentally validated
Total 9 [view]
Protein‑Protein  6
[view]
Protein‑DNA 3
[view]
Protein‑RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Gene Ontology
Accession GO Term
Molecular Function
GO:0003824 catalytic activity
GO:0004346 glucose-6-phosphatase activity
GO:0016773 phosphotransferase activity, alcohol group as acceptor
GO:0042301 phosphate ion binding
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0005977 glycogen metabolic process
GO:0005980 glycogen catabolic process
GO:0006094 gluconeogenesis
GO:0006641 triglyceride metabolic process
GO:0008202 steroid metabolic process
GO:0008645 hexose transport
GO:0010468 regulation of gene expression
GO:0015758 glucose transport
GO:0015760 glucose-6-phosphate transport
GO:0035264 multicellular organism growth
GO:0042593 glucose homeostasis
GO:0042632 cholesterol homeostasis
GO:0044281 small molecule metabolic process
GO:0046415 urate metabolic process
GO:0051156 glucose 6-phosphate metabolic process
GO:0055085 transmembrane transport
Cellular Component
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral to membrane
GO:0030176 integral to endoplasmic reticulum membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000078650 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000010184 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
REACT_212 Glucose transport
KEGG
hsa04920  Adipocytokine signaling pathway
hsa04973  Carbohydrate digestion and absorption
hsa00052  Galactose metabolism
hsa00010  Glycolysis / Gluconeogenesis
hsa04910  Insulin signaling pathway
hsa01100  Metabolic pathways
hsa00500  Starch and sucrose metabolism
INOH
INOH website Glycolysis Gluconeogenesis
PID BIOCARTA
PID NCI
hnf3bpathway FOXA2 and FOXA3 transcription factor networks
foxopathway FoxO family signaling
Cross-References
SwissProt P35575 
TrEMBL
UniProt Splice Variant
Entrez Gene 2538 
UniGene Hs.212293 Hs.742566
RefSeq NM_000151 
HUGO 4056 
OMIM 613742
CCDS CCDS11446 
HPRD 01983
IMGT
EMBL AK313982 BC130478 BC136369 U01120
GenPept AAA16222  AAI30479  AAI36370  BAG36695 
ImmGen G6PC (murine) 
RNA Seq Atlas 2538