Center for Bioinformatics
Oxidoreductases | Transferases | Hydrolases | Lyases | Isomerases | Ligases

Basic Information

Enzyme Number

3.1.3.9

RLRdb entry

RL00150

Organisms

Homo sapiens (Human) (9606_human)

Synonyms

Glucose-6-phosphatase;
Short=G-6-Pase;
Short=G6Pase;
EC=3.1.3.9;
Glucose-6-phosphatase alpha;
Short=G6Pase-alpha;

Key words

Disease mutation, Endoplasmic reticulum, Gluconeogenesis, Glycogen storage disease, Glycoprotein, Hydrolase, Membrane, Polymorphism, Transmembrane

Links to iHOP

P35575

Function

Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. Forms with the glucose-6-phosphate transporter (SLC37A4/G6PT) the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it is the key enzyme in homeostatic regulation of blood glucose levels.

Subcellular localization

Endoplasmic reticulum membrane; Multi-pass membrane protein

Catalytic activity

D-glucose 6-phosphate + H(2)O = D-glucose + phosphate

Gene ontology

F:glucose-6-phosphatase activity
C:integral to endoplasmic reticulum membrane
P:gluconeogenesis
F:phosphate binding
P:glucose homeostasis

Disease

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 of terminal steps of glycogenolysis and gluconeogenesis. GSD1 patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia.

Fasta

>P35575 : length: 357
MEEGMNVLHDFGIQSTHYLQVNYQDSQDWFILVSVIADLRNAFYVLFPIWFHLQEAVGIK
LLWVAVIGDWLNLVFKWILFGQRPYWWVLDTDYYSNTSVPLIKQFPVTCETGPGSPSGHA
MGTAGVYYVMVTSTLSIFQGKIKPTYRFRCLNVILWLGFWAVQLNVCLSRIYLAAHFPHQ
VVAGVLSGIAVAETFSHIHSIYNASLKKYFLITFFLFSFAIGFYLLLKGLGVDLLWTLEK
AQRWCEQPEWVHIDTTPFASLLKNLGTLFGLGLALNSSMYRESCKGKLSKWLPFRLSSIV
ASLVLLHVFDSLKPPSQVELVFYVLSFCKSAVVPLASVSVIPYCLAQVLGQPHKKSL



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  Last Modified: 2009-03-24  
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