G6PC3
entrez
92579
canonical
uniprot
Q9BUM1
canonical
ensembl
ENSG00000141349
resolver
ensp
ENSP00000269097
resolver
ensp
ENSP00000465111
resolver
ensp
ENSP00000512593
resolver
enst
ENST00000269097
resolver
enst
ENST00000590253
resolver
enst
ENST00000696383
resolver
genesymbol
G6PC3
resolver
genesymbol_syn
UGRP
resolver
hgnc
HGNC:24861
resolver
uniprot
A0A8Q3SIG5
resolver
uniprot
K7EJC5
resolver
uniprot
Q8WU15
resolver
uniprot_entry
A0A8Q3SIG5_HUMAN
resolver
uniprot_entry
G6PC3_HUMAN
resolver
uniprot_entry
K7EJC5_HUMAN
resolver
uniprot_sec
Q8WU15
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by vanadate. {ECO:0000269|PubMed:13129915}.
uniprot
proteins
amino_acid_sequence
MESTLGAGIVIAEALQNQLAWLENVWLWITFLGDPKILFLFYFPAAYYASRRVGIAVLWISLITEWLNLIFKWFLFGDRPFWWVHESGYYSQAPAQVHQFPSSCETGPGSPSGHCMITGAALWPIMTALSSQVATRARSRWVRVMPSLAYCTFLLAVGLSRIFILAHFPHQVLAGLITGAVLGWLMTPRVPMERELSFYGLTALALMLGTSLIYWTLFTLGLDLSWSISLAFKWCERPEWIHVDSRPFASLSRDSGAALGLGIALHSPCYAQVRRAQLGNGQKIACLVLAMGLLGPLDWLGHPPQISLFYIFNFLKYTLWPCLVLALVPWAVHMFSAQEAPPIHSS
uniprot
proteins
disease_involvement
DISEASE: 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. {ECO:0000269|PubMed:19118303, ECO:0000269|PubMed:20220065, ECO:0000269|PubMed:20616219, ECO:0000269|PubMed:22050868, ECO:0000269|PubMed:22469094, ECO:0000269|PubMed:23018568, ECO:0000269|PubMed:23298686, ECO:0000269|PubMed:24105461, ECO:0000269|PubMed:24750412, ECO:0000269|PubMed:25492228}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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. {ECO:0000269|PubMed:20799326}. 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. 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. {ECO:0000269|PubMed:12370122, ECO:0000269|PubMed:12965222, ECO:0000269|PubMed:13129915}.
uniprot
proteins
mass_dalton
38735
uniprot
proteins
mutagenesis
MUTAGEN 79; /note="R->A: Loss of catalytic activity."; /evidence="ECO:0000269|PubMed:13129915"; MUTAGEN 114; /note="H->A: Loss of catalytic activity."; /evidence="ECO:0000269|PubMed:13129915"; MUTAGEN 167; /note="H->A: Loss of catalytic activity."; /evidence="ECO:0000269|PubMed:13129915
uniprot
proteins
pathway_participation
PATHWAY: Carbohydrate biosynthesis; gluconeogenesis.
uniprot
proteins
protein_family
Glucose-6-phosphatase family
uniprot
proteins
pubmed
12370122
uniprot
proteins
pubmed
12965222
uniprot
proteins
pubmed
13129915
uniprot
proteins
pubmed
14718531
uniprot
proteins
pubmed
14765991
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19118303
uniprot
proteins
pubmed
20220065
uniprot
proteins
pubmed
20616219
uniprot
proteins
pubmed
20799326
uniprot
proteins
pubmed
22050868
uniprot
proteins
pubmed
22469094
uniprot
proteins
pubmed
23018568
uniprot
proteins
pubmed
23298686
uniprot
proteins
pubmed
24105461
uniprot
proteins
pubmed
24750412
uniprot
proteins
pubmed
25492228
uniprot
proteins
sequence_length
346
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:13129915}; Multi-pass membrane protein {ECO:0000269|PubMed:13129915}.
uniprot
proteins
transmembrane_region
TRANSMEM 25..45; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 55..75; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 115..135; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 147..164; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 170..186; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 198..218; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 255..273; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 284..304; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 308..328; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins