G6PC

GENERAL INFORMATION

? »

Gene name

G6PC

Gene description

Glucose-6-phosphatase, catalytic subunit

Protein class

Disease related genes
Enzymes
Potential drug targets
Predicted membrane proteins

Predicted localization

Membrane

Number of transcripts

3
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Tissue enhanced (kidney, liver)
GTEx:Tissue enriched (liver)

Protein evidence

Evidence at protein level

Protein localization

Most normal tissues showed moderate to strong cytoplasmic positivity which was combined with membranous staining in some cases. Lymphoid tissue, placental trophoblasts, uterus, mesenchymal cells and most cells in CNS were negative.

ANTIBODY RELIABILITY

? »

Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA052324
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »
RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Stomach

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

? »

Organ

Expression



RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Tissue enhanced (kidney, liver)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enriched (liver)

Organ

Expression



GENE INFORMATION

? »

Gene name

G6PC (HGNC Symbol)

Synonyms

G6PT, GSD1a

Description

Glucose-6-phosphatase, catalytic subunit (HGNC Symbol)

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]

Chromosome

17

Cytoband

q21.31

Chromosome location (bp)

42900797 - 42913369

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000131482 (version 78.38)

Entrez gene

2538

UniProt

P35575 (UniProt - Evidence at protein level)

neXtProt

NX_P35575

Antibodypedia

G6PC antibodies


PROTEIN BROWSER

? »
 
 
 
ENST00000253801
 
ENST00000585489
 
ENST00000592383
 
 
 
 


PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

G6PC-001 ENSP00000253801
ENST00000253801
P35575
Show all »
Show » Show » 357 40.5 No 8
G6PC-002 ENSP00000465958
ENST00000592383
P35575
Show all »
Show » Show » 176 20.2 No 3
G6PC-003 ENSP00000466202
ENST00000585489
K7ELS6
Show all »
Show » Show » 163 19 No 3