Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2538
Gene name Gene Name - the full gene name approved by the HGNC.	Glucose-6-phosphatase catalytic subunit 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	G6PC1
Synonyms (NCBI Gene) Gene synonyms aliases	G6PC, G6PT, G6Pase, GSD1, GSD1a
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q21.31
Summary Summary of gene provided in NCBI Entrez Gene.	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-pho

Show/Hide all(62)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1801175	C>T	Pathogenic	Coding sequence variant, missense variant
rs1801176	G>A	Pathogenic	Coding sequence variant, missense variant
rs80356479	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs80356482	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs80356483	G>T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant, 3 prime UTR variant
rs80356484	G>A,T	Pathogenic-likely-pathogenic, pathogenic	Synonymous variant, coding sequence variant, 3 prime UTR variant
rs80356485	C>T	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant, 3 prime UTR variant
rs80356486	TCT>-	Likely-pathogenic	Inframe deletion, coding sequence variant, 3 prime UTR variant
rs80356487	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant, 3 prime UTR variant
rs80356488	->TA	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs104894563	C>T	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant, 3 prime UTR variant
rs104894565	A>G,T	Pathogenic	Missense variant, coding sequence variant
rs104894566	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs104894567	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs104894568	G>A	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs104894569	G>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs104894571	T>C,G	Pathogenic, uncertain-significance	Synonymous variant, missense variant, coding sequence variant
rs142917638	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs143321486	C>G,T	Likely-pathogenic, uncertain-significance	3 prime UTR variant, coding sequence variant, missense variant
rs145172999	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	3 prime UTR variant, coding sequence variant, missense variant
rs199505156	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs367727229	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, 3 prime UTR variant
rs368450665	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant
rs373345919	C>T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs387906505	T>A,C	Pathogenic	Missense variant, coding sequence variant, 3 prime UTR variant
rs587776757	A>G	Pathogenic	Intron variant
rs748363083	C>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs749323139	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, 3 prime UTR variant
rs755612674	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs756632286	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs764920787	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs775826449	T>C	Likely-pathogenic	Missense variant, synonymous variant, coding sequence variant
rs780226142	C>A,T	Pathogenic-likely-pathogenic, pathogenic	3 prime UTR variant, stop gained, synonymous variant, coding sequence variant
rs863224022	T>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, 3 prime UTR variant
rs863224023	G>C	Likely-pathogenic	Splice donor variant
rs1057516367	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1057516630	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516674	GT>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516858	G>-	Likely-pathogenic	3 prime UTR variant, frameshift variant, coding sequence variant
rs1057517008	A>C	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs1057517227	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1189630738	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant, missense variant
rs1250172816	T>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1411037881	G>A	Likely-pathogenic	Splice acceptor variant
rs1457925404	G>A,C	Likely-pathogenic	Stop gained, missense variant, coding sequence variant, 3 prime UTR variant
rs1485038937	C>G	Likely-pathogenic	Stop gained, synonymous variant, coding sequence variant
rs1555558920	->TACCTCCAGGTGAATT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555559279	G>A	Likely-pathogenic	Splice acceptor variant
rs1555559741	C>A	Likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs1555559991	C>A	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs1555560140	G>A	Likely-pathogenic	Stop gained, 3 prime UTR variant, coding sequence variant
rs1555560185	->GT	Likely-pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs1567702823	G>A	Pathogenic	Stop gained, coding sequence variant
rs1567705064	ATGGTCACATCTA>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1597988331	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1597989983	G>C	Likely-pathogenic	Splice donor variant
rs1597989985	T>C	Likely-pathogenic	Splice donor variant
rs1597990895	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1597990906	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1597990921	C>T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs1597991608	C>G	Pathogenic	Intron variant
rs1597991733	C>A	Likely-pathogenic	Missense variant, coding sequence variant, 3 prime UTR variant

Show/Hide all(43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004346	Function	Glucose-6-phosphatase activity	EXP	12093795
GO:0004346	Function	Glucose-6-phosphatase activity	IBA
GO:0004346	Function	Glucose-6-phosphatase activity	IDA	8211187, 10318794, 15661744
GO:0004346	Function	Glucose-6-phosphatase activity	IEA
GO:0004346	Function	Glucose-6-phosphatase activity	TAS
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS	10318794
GO:0005977	Process	Glycogen metabolic process	IEA
GO:0005977	Process	Glycogen metabolic process	TAS	8211187
GO:0005980	Process	Glycogen catabolic process	IEA
GO:0006094	Process	Gluconeogenesis	IBA
GO:0006094	Process	Gluconeogenesis	IEA
GO:0006094	Process	Gluconeogenesis	IMP	8211187
GO:0006094	Process	Gluconeogenesis	TAS
GO:0006641	Process	Triglyceride metabolic process	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0009743	Process	Response to carbohydrate	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0015760	Process	Glucose-6-phosphate transport	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IDA	10318794
GO:0016020	Component	Membrane	IEA
GO:0016773	Function	Phosphotransferase activity, alcohol group as acceptor	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031667	Process	Response to nutrient levels	IEA
GO:0032094	Process	Response to food	IEA
GO:0032868	Process	Response to insulin	IEA
GO:0032869	Process	Cellular response to insulin stimulus	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0042301	Function	Phosphate ion binding	IMP	12093795
GO:0042593	Process	Glucose homeostasis	IEA
GO:0042593	Process	Glucose homeostasis	IMP	8211187
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0046415	Process	Urate metabolic process	IEA
GO:0048878	Process	Chemical homeostasis	IEA
GO:0051156	Process	Glucose 6-phosphate metabolic process	IBA
GO:0051156	Process	Glucose 6-phosphate metabolic process	IEA
GO:0051156	Process	Glucose 6-phosphate metabolic process	IEA
GO:0055088	Process	Lipid homeostasis	IEA
GO:0061771	Process	Response to caloric restriction	IEA
GO:1904638	Process	Response to resveratrol	IEA

MIM	HGNC	e!Ensembl
613742	4056	ENSG00000131482

Protein

UniProt ID

P35575

Protein name

Glucose-6-phosphatase catalytic subunit 1 (EC 3.1.3.9) (Glucose-6-phosphatase) (G-6-Pase) (G6Pase) (Glucose-6-phosphatase alpha) (G6Pase-alpha)

Protein 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. Henc

PDB

9J7U , 9J7V

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01569	PAP2	57 → 204	PAP2 superfamily	Family

Sequence

MEEGMNVLHDFGIQSTHYLQVNYQDSQDWFILVSVIADLRNAFYVLFPIWFHLQEAVGIK
LLWVAVIGDWLNLVFKWILFGQRPYWWVLDTDYYSNTSVPLIKQFPVTCETGPGSPSGHA
MGTAGVYYVMVTSTLSIFQGKIKPTYRFRCLNVILWLGFWAVQLNVCLSRIYLAAHFPHQ
VVAGVLSGIAVAETFSHIHSIYNASLKKYFLITFFLFSFAIGFYLLLKGLGVDLLWTLEK
AQRWCEQPEWVHIDTTPFASLLKNLGTLFGLGLALNSSMYRESCKGKLSKWLPFRLSSIV
ASLVLLHVFDSLKPPSQVELVFYVLSFCKSAVVPLASVSVIPYCLAQVLGQPHKKSL

Sequence length

357

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Glycogen Storage Disease	glycogen storage disease due to glucose-6-phosphatase deficiency type ia, Glycogen storage disease, type I	rs755612674, rs80356483, rs1597990921, rs1057517008, rs1485038937, rs104894567, rs1597988331, rs387906505, rs1057516630, rs80356488, rs2056023296, rs1555559279, rs104894568, rs775826449, rs140869027 View all (49 more)	N/A

G6PC1 (glucose-6-phosphatase catalytic subunit 1)