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glucose-6-phosphatase catalytic subunit 1

Summary

Gene Symbol

G6PC1

Aliases

GSD1a
glycogen storage disease type I, von Gierke disease

Organism

Homo sapiens (human)

External Links

NCBI Gene

2538

HGNC

4056

PubChem

2538

Alliance of Genome Resources

HGNC:4056

Annotation

Keyword

Alternative splicing
Disease variant
Endoplasmic reticulum
Gluconeogenesis
Glycogen storage disease
Glycoprotein
Hydrolase
Reference proteome
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
P35575	Glucose-6-phosphatase Glucose-6-phosphatase alpha

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 12 in total

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GO Term	Evidence Code	PMID
triglyceride metabolic process	IEA
glycogen metabolic process	TAS	8211187
regulation of gene expression	IEA
glycogen catabolic process	IEA
glucose 6-phosphate metabolic process	IBA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

cellular nitrogen compound metabolic process [inference]

purine-containing compound metabolic process [inference]

urate metabolic process

organonitrogen compound metabolic process [inference]

purine-containing compound metabolic process [inference]

urate metabolic process

catabolic process [inference]

organic substance catabolic process [inference]

macromolecule catabolic process [inference]

polysaccharide catabolic process [inference]

glucan catabolic process [inference]

glycogen catabolic process

carbohydrate catabolic process [inference]

polysaccharide catabolic process [inference]

glucan catabolic process [inference]

glycogen catabolic process

biosynthetic process [inference]

small molecule biosynthetic process [inference]

monosaccharide biosynthetic process [inference]

hexose biosynthetic process [inference]

gluconeogenesis

organic substance biosynthetic process [inference]

carbohydrate biosynthetic process [inference]

monosaccharide biosynthetic process [inference]

hexose biosynthetic process [inference]

gluconeogenesis

cellular metabolic process [inference]

generation of precursor metabolites and energy [inference]

energy derivation by oxidation of organic compounds [inference]

energy reserve metabolic process [inference]

glycogen metabolic process

glycogen catabolic process

cellular aromatic compound metabolic process [inference]

purine-containing compound metabolic process [inference]

urate metabolic process

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

glucose 6-phosphate metabolic process

organophosphate metabolic process [inference]

glucose 6-phosphate metabolic process

cellular nitrogen compound metabolic process [inference]

purine-containing compound metabolic process [inference]

urate metabolic process

cellular lipid metabolic process [inference]

neutral lipid metabolic process [inference]

acylglycerol metabolic process [inference]

triglyceride metabolic process

glycerolipid metabolic process [inference]

acylglycerol metabolic process [inference]

triglyceride metabolic process

heterocycle metabolic process [inference]

purine-containing compound metabolic process [inference]

urate metabolic process

primary metabolic process [inference]

carbohydrate metabolic process [inference]

polysaccharide metabolic process [inference]

polysaccharide catabolic process [inference]

glucan catabolic process [inference]

glycogen catabolic process

glucan metabolic process [inference]

glycogen metabolic process

glycogen catabolic process

glucan catabolic process [inference]

glycogen catabolic process

monosaccharide metabolic process [inference]

hexose metabolic process [inference]

glucose metabolic process [inference]

gluconeogenesis

hexose biosynthetic process [inference]

gluconeogenesis

monosaccharide biosynthetic process [inference]

hexose biosynthetic process [inference]

gluconeogenesis

carbohydrate biosynthetic process [inference]

monosaccharide biosynthetic process [inference]

hexose biosynthetic process [inference]

gluconeogenesis

carbohydrate catabolic process [inference]

polysaccharide catabolic process [inference]

glucan catabolic process [inference]

glycogen catabolic process

lipid metabolic process [inference]

steroid metabolic process

cellular lipid metabolic process [inference]

neutral lipid metabolic process [inference]

acylglycerol metabolic process [inference]

triglyceride metabolic process

glycerolipid metabolic process [inference]

acylglycerol metabolic process [inference]

triglyceride metabolic process

small molecule metabolic process [inference]

monosaccharide metabolic process [inference]

hexose metabolic process [inference]

glucose metabolic process [inference]

gluconeogenesis

hexose biosynthetic process [inference]

gluconeogenesis

monosaccharide biosynthetic process [inference]

hexose biosynthetic process [inference]

gluconeogenesis

small molecule biosynthetic process [inference]

monosaccharide biosynthetic process [inference]

hexose biosynthetic process [inference]

gluconeogenesis

urate metabolic process

organic substance metabolic process [inference]

carbohydrate metabolic process [inference]

polysaccharide metabolic process [inference]

polysaccharide catabolic process [inference]

glucan catabolic process [inference]

glycogen catabolic process

glucan metabolic process [inference]

glycogen metabolic process

glycogen catabolic process

glucan catabolic process [inference]

glycogen catabolic process

monosaccharide metabolic process [inference]

hexose metabolic process [inference]

glucose metabolic process [inference]

gluconeogenesis

hexose biosynthetic process [inference]

gluconeogenesis

monosaccharide biosynthetic process [inference]

hexose biosynthetic process [inference]

gluconeogenesis

carbohydrate biosynthetic process [inference]

monosaccharide biosynthetic process [inference]

hexose biosynthetic process [inference]

gluconeogenesis

carbohydrate catabolic process [inference]

polysaccharide catabolic process [inference]

glucan catabolic process [inference]

glycogen catabolic process

lipid metabolic process [inference]

steroid metabolic process

cellular lipid metabolic process [inference]

neutral lipid metabolic process [inference]

acylglycerol metabolic process [inference]

triglyceride metabolic process

glycerolipid metabolic process [inference]

acylglycerol metabolic process [inference]

triglyceride metabolic process

organophosphate metabolic process [inference]

glucose 6-phosphate metabolic process

macromolecule metabolic process [inference]

polysaccharide metabolic process [inference]

polysaccharide catabolic process [inference]

glucan catabolic process [inference]

glycogen catabolic process

glucan metabolic process [inference]

glycogen metabolic process

glycogen catabolic process

glucan catabolic process [inference]

glycogen catabolic process

macromolecule catabolic process [inference]

polysaccharide catabolic process [inference]

glucan catabolic process [inference]

glycogen catabolic process

carbohydrate derivative metabolic process [inference]

glucose 6-phosphate metabolic process

organic cyclic compound metabolic process [inference]

steroid metabolic process

purine-containing compound metabolic process [inference]

urate metabolic process

organonitrogen compound metabolic process [inference]

purine-containing compound metabolic process [inference]

urate metabolic process

organic substance catabolic process [inference]

macromolecule catabolic process [inference]

polysaccharide catabolic process [inference]

glucan catabolic process [inference]

glycogen catabolic process

carbohydrate catabolic process [inference]

polysaccharide catabolic process [inference]

glucan catabolic process [inference]

glycogen catabolic process

organic substance biosynthetic process [inference]

carbohydrate biosynthetic process [inference]

monosaccharide biosynthetic process [inference]

hexose biosynthetic process [inference]

gluconeogenesis

cellular process [inference]

cellular metabolic process [inference]

generation of precursor metabolites and energy [inference]

energy derivation by oxidation of organic compounds [inference]

energy reserve metabolic process [inference]

glycogen metabolic process

glycogen catabolic process

cellular aromatic compound metabolic process [inference]

purine-containing compound metabolic process [inference]

urate metabolic process

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

glucose 6-phosphate metabolic process

organophosphate metabolic process [inference]

glucose 6-phosphate metabolic process

cellular nitrogen compound metabolic process [inference]

purine-containing compound metabolic process [inference]

urate metabolic process

cellular lipid metabolic process [inference]

neutral lipid metabolic process [inference]

acylglycerol metabolic process [inference]

triglyceride metabolic process

glycerolipid metabolic process [inference]

acylglycerol metabolic process [inference]

triglyceride metabolic process

heterocycle metabolic process [inference]

purine-containing compound metabolic process [inference]

urate metabolic process

multicellular organismal process [inference]

multicellular organism growth

growth [inference]

developmental growth [inference]

multicellular organism growth

homeostatic process [inference]

chemical homeostasis [inference]

carbohydrate homeostasis [inference]

glucose homeostasis

lipid homeostasis [inference]

sterol homeostasis [inference]

cholesterol homeostasis

localization [inference]

establishment of localization [inference]

transport [inference]

organic substance transport [inference]

organophosphate ester transport [inference]

hexose phosphate transport [inference]

glucose-6-phosphate transport

carbohydrate derivative transport [inference]

hexose phosphate transport [inference]

glucose-6-phosphate transport

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression

regulation of cellular metabolic process [inference]

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression

regulation of cellular process [inference]

regulation of cellular metabolic process [inference]

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression

Displaying **all 2** entries
GO Term	Evidence Code	PMID
endoplasmic reticulum membrane	TAS	10318794
membrane	IBA IDA	10318794

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane

organelle membrane [inference]

endoplasmic reticulum membrane

Displaying **all 4** entries
GO Term	Evidence Code	PMID
phosphate ion binding	IMP	12093795
phosphotransferase activity, alcohol group as acceptor	IEA
protein binding	IPI	32814053
glucose-6-phosphatase activity	EXP IBA IDA TAS	10318794 12093795 15661744 8211187

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

transferase activity, transferring phosphorus-containing groups [inference]

phosphotransferase activity, alcohol group as acceptor

hydrolase activity [inference]

hydrolase activity, acting on ester bonds [inference]

phosphoric ester hydrolase activity [inference]

phosphatase activity [inference]

carbohydrate phosphatase activity [inference]

sugar-phosphatase activity [inference]

sugar-terminal-phosphatase activity [inference]

glucose-6-phosphatase activity

binding [inference]

protein binding

ion binding [inference]

anion binding [inference]

phosphate ion binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000131482

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

Rhea

RHEA:16689

H₂O + D-glucose 6-phosphate

D-glucose + phosphate

Enzyme

PMID

RHEA:44904

H₂O + α-D-glucose 6-phosphate

α-D-glucose + phosphate

Enzyme

Disease

Disease Ontology

Displaying entries **1 - 10** of **139** in total

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DO ID	Disease Name	Source
DOID:0014667	disease of metabolism	DisGeNET
DOID:0050387	nonpapillary renal cell carcinoma	DisGeNET
DOID:0050590	severe congenital neutropenia	DisGeNET DisGeNET
DOID:0050782	Zollinger-Ellison syndrome	DisGeNET
DOID:0060262	gallbladder disease	DisGeNET
DOID:0060357	chylomicron retention disease	DisGeNET
DOID:0110741	type 1 diabetes mellitus 2	DisGeNET
DOID:0110742	type 1 diabetes mellitus 3	DisGeNET
DOID:0110743	type 1 diabetes mellitus 4	DisGeNET
DOID:0110744	type 1 diabetes mellitus 5	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of 31 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000093	Proteinuria
HP:0000097	Focal segmental glomerulosclerosis
HP:0000105	Enlarged kidney
HP:0000295	Doll-like facies
HP:0000660	Lipemia retinalis
HP:0000787	Nephrolithiasis
HP:0000822	Hypertension
HP:0000823	Delayed puberty
HP:0000939	Osteoporosis

Displaying 1 entry
Disease ID	Disease Name
OMIM:232200	glycogen storage disease due to glucose-6-phosphatase deficiency type IA

PubChem Disease

GHR Health Conditions

Glycogen storage disease type I

MedGen Diseases

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

OMIM Phenotypes

GLYCOGEN STORAGE DISEASE Ia; GSD1A

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying entries **1 - 10** of 96 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Drosophila melanogaster	33476	FB:FBgn0031463
Latimeria chalumnae	102366630		LATCH06489
Danio rerio	563180	ZFIN:ZDB-GENE-050309-17	DANRE04305
Danio rerio	445118	ZFIN:ZDB-GENE-031001-4
Danio rerio	100000750	ZFIN:ZDB-GENE-081223-2
Astyanax mexicanus	103022082		ASTMX15619
Ictalurus punctatus	108274326		ICTPU05420
Electrophorus electricus	113577007		ELEEL19377
Salmo salar	106579337		SALSA92827
Salmo salar	106589305		SALSA117636

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PubChem Disease

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Acknowledgements