G6PC1
entrez
2538
canonical
uniprot
P35575
canonical
ensembl
ENSG00000131482
resolver
ensp
ENSP00000253801
resolver
ensp
ENSP00000465958
resolver
genesymbol
G6PC1
resolver
genesymbol_syn
G6PC
resolver
genesymbol_syn
G6PT
resolver
hgnc
HGNC:4056
resolver
uniprot
A1L4C0
resolver
uniprot
B4E1C3
resolver
uniprot
K7EL82
resolver
uniprot_entry
G6PC1_HUMAN
resolver
uniprot_sec
A1L4C0
resolver
uniprot_sec
B4E1C3
resolver
uniprot_sec
K7EL82
resolver
amino_acid_sequence
MEEGMNVLHDFGIQSTHYLQVNYQDSQDWFILVSVIADLRNAFYVLFPIWFHLQEAVGIKLLWVAVIGDWLNLVFKWILFGQRPYWWVLDTDYYSNTSVPLIKQFPVTCETGPGSPSGHAMGTAGVYYVMVTSTLSIFQGKIKPTYRFRCLNVILWLGFWAVQLNVCLSRIYLAAHFPHQVVAGVLSGIAVAETFSHIHSIYNASLKKYFLITFFLFSFAIGFYLLLKGLGVDLLWTLEKAQRWCEQPEWVHIDTTPFASLLKNLGTLFGLGLALNSSMYRESCKGKLSKWLPFRLSSIVASLVLLHVFDSLKPPSQVELVFYVLSFCKSAVVPLASVSVIPYCLAQVLGQPHKKSL
uniprot
proteins
disease_involvement
DISEASE: Glycogen storage disease 1A (GSD1A) [MIM:232200]: A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. 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. {ECO:0000269|PubMed:10070617, ECO:0000269|PubMed:10094563, ECO:0000269|PubMed:10447271, ECO:0000269|PubMed:10612834, ECO:0000269|PubMed:10738005, ECO:0000269|PubMed:10748407, ECO:0000269|PubMed:10874313, ECO:0000269|PubMed:10960498, ECO:0000269|PubMed:11058903, ECO:0000269|PubMed:11058910, ECO:0000269|PubMed:12373566, ECO:0000269|PubMed:15151508, ECO:0000269|PubMed:15316959, ECO:0000269|PubMed:15542400, ECO:0000269|PubMed:7573034, ECO:0000269|PubMed:7623438, ECO:0000269|PubMed:7655466, ECO:0000269|PubMed:8182131, ECO:0000269|PubMed:8733042, ECO:0000269|PubMed:9001800, ECO:0000269|PubMed:9332655, ECO:0000269|PubMed:9506659, ECO:0000269|PubMed:9700612, ECO:0000269|PubMed:9700613}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.3.9
uniprot
proteins
function
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 in the terminal step of glycogenolysis and gluconeogenesis. Hence, it is the key enzyme in homeostatic regulation of blood glucose levels. {ECO:0000269|PubMed:10960498, ECO:0000269|PubMed:12093795, ECO:0000269|PubMed:15542400, ECO:0000269|PubMed:9332655, ECO:0000269|PubMed:9497333}.
uniprot
proteins
mass_dalton
40484
uniprot
proteins
mutagenesis
MUTAGEN 9; /note="H->A: Partial loss of glucose-6-phosphatase activity."; /evidence="ECO:0000269|PubMed:12093795"; MUTAGEN 52; /note="H->A: Partial loss of glucose-6-phosphatase activity."; /evidence="ECO:0000269|PubMed:12093795"; MUTAGEN 119; /note="H->A: Loss of glucose-6-phosphatase activity."; /evidence="ECO:0000269|PubMed:12093795"; MUTAGEN 176; /note="H->A,I,K,M,N,S,R: Loss of glucose-6-phosphatase activity."; /evidence="ECO:0000269|PubMed:12093795, ECO:0000269|PubMed:9497333"; MUTAGEN 179; /note="H->A: Loss of glucose-6-phosphatase activity."; /evidence="ECO:0000269|PubMed:12093795"; MUTAGEN 197; /note="H->T: Partial loss of glucose-6-phosphatase activity."; /evidence="ECO:0000269|PubMed:12093795"; MUTAGEN 252; /note="H->A: Partial loss of glucose-6-phosphatase activity."; /evidence="ECO:0000269|PubMed:12093795"; MUTAGEN 307; /note="H->A: Partial loss of glucose-6-phosphatase activity."; /evidence="ECO:0000269|PubMed:12093795"; MUTAGEN 353; /note="H->A: Partial loss of glucose-6-phosphatase activity."; /evidence="ECO:0000269|PubMed:12093795
uniprot
proteins
pathway_participation
PATHWAY: Carbohydrate biosynthesis; gluconeogenesis. {ECO:0000305|PubMed:12093795}.
uniprot
proteins
protein_family
Glucose-6-phosphatase family
uniprot
proteins
pubmed
10070617
uniprot
proteins
pubmed
10094563
uniprot
proteins
pubmed
10447271
uniprot
proteins
pubmed
10612834
uniprot
proteins
pubmed
10738005
uniprot
proteins
pubmed
10748407
uniprot
proteins
pubmed
10874313
uniprot
proteins
pubmed
10960498
uniprot
proteins
pubmed
11058903
uniprot
proteins
pubmed
11058910
uniprot
proteins
pubmed
12093795
uniprot
proteins
pubmed
12373566
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15151508
uniprot
proteins
pubmed
15316959
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15542400
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
7573034
uniprot
proteins
pubmed
7623438
uniprot
proteins
pubmed
7655466
uniprot
proteins
pubmed
8182131
uniprot
proteins
pubmed
8211187
uniprot
proteins
pubmed
8733042
uniprot
proteins
pubmed
9001800
uniprot
proteins
pubmed
9332655
uniprot
proteins
pubmed
9497333
uniprot
proteins
pubmed
9506659
uniprot
proteins
pubmed
9700612
uniprot
proteins
pubmed
9700613
uniprot
proteins
pubmed
9705299
uniprot
proteins
sequence_length
357
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000303|PubMed:9497333}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 29..49; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 61..81; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 118..138; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 148..168; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 180..202; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 210..230; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 255..275; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 292..312; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 321..341; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins