InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: G6PC3

Summary

InnateDB Protein

IDBP-53291.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

G6PC3

Protein Name

glucose 6 phosphatase, catalytic, 3

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000269097

InnateDB Gene

IDBG-53289 (G6PC3)

Protein Structure

UniProt Annotation

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:0000269PubMed:12370122, ECO:0000269PubMed:12965222, ECO:0000269PubMed:13129915}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000269PubMed:13129915}; Multi-pass membrane protein {ECO:0000269PubMed:13129915}.

Disease Associations

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:0000269PubMed:19118303, ECO:0000269PubMed:20220065, ECO:0000269PubMed:20616219}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:20799326}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitously expressed. Highly expressed in skeletal muscle, at intermediate levels in heart, brain, placenta, kidney, colon, thymus, spleen and pancreas. Also detected in testis, prostate, ovary, liver, lung, small intestine and peripheral blood lymphocytes. {ECO:0000269PubMed:12370122, ECO:0000269PubMed:12965222, ECO:0000269PubMed:14765991}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0004346	glucose-6-phosphatase activity

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006094	gluconeogenesis
GO:0006796	phosphate-containing compound metabolic process
GO:0008645	hexose transport
GO:0015758	glucose transport
GO:0015760	glucose-6-phosphate transport
GO:0016311	dephosphorylation
GO:0044281	small molecule metabolic process
GO:0051156	glucose 6-phosphate metabolic process
GO:0055085	transmembrane transport