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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	2538
Gene name	Glucose-6-phosphatase catalytic subunit 1
Gene symbol	G6PC1
Synonyms (NCBI Gene)	G6PCG6PTG6PaseGSD1GSD1a
Chromosome	17
Chromosome location	17q21.31
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-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

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

583

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
G6PC1-related disorder	Likely pathogenic; Pathogenic	rs2056092654, rs80356487, rs80356479, rs750470654	RCV003401731 RCV003398491 RCV003421926 RCV003396803
Glycogen storage disease	Pathogenic	rs1801175, rs80356487	RCV000360229 RCV001027894
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Likely pathogenic; Pathogenic	rs2056021410, rs1555560149, rs2151929143, rs2151930039, rs759982943, rs2151932291, rs1272803483, rs2151932243, rs2056092654, rs1414234636, rs1567702819, rs2151930031, rs761007323, rs2151931178, rs2151931733 View all (115 more)	RCV001332225 RCV001379867 RCV001384325 RCV001389990 RCV001390823 RCV001387201 RCV001582383 RCV001797561 RCV001810537 RCV002237075 RCV002237083 RCV002237086 RCV002237489 RCV002239890 RCV002239893 RCV002237495 RCV002237499 RCV002237501 RCV002237502 RCV002237503 RCV002239895 RCV002239900 RCV002237510 RCV002237519 RCV002249046 RCV002249997 RCV002306713 RCV002310454 RCV000169341 RCV000169104 RCV000169319 RCV003064447 RCV003050474 RCV003050475 RCV003092710 RCV002651266 RCV002781305 RCV002797070 RCV002863633 RCV002907903 RCV002933083 RCV002941983 RCV000673964 RCV000587142 RCV002996421 RCV003022267 RCV003057769 RCV003065867 RCV003138646 RCV000012777 RCV000012778 RCV000012779 RCV000012780 RCV000012781 RCV000012782 RCV000012783 RCV000012784 RCV000012785 RCV000012786 RCV000012787 RCV000012788 RCV000020132 RCV000012790 RCV003330449 RCV003444045 RCV003513257 RCV003513205 RCV003513641 RCV003511693 RCV003511906 RCV003512787 RCV003624639 RCV003625223 RCV003624855 RCV003625355 RCV003625379 RCV003625590 RCV003625995 RCV003834505 RCV003832498 RCV003852330 RCV003993588 RCV000239641 RCV000173073 RCV000239699 RCV000410536 RCV000411233 RCV000409261 RCV000411603 RCV000412063 RCV000411015 RCV000411293 RCV000409898 RCV000415061 RCV000012789 RCV000536905 RCV000984266 RCV000624988 RCV000654361 RCV000673835 RCV000668679 RCV000671160 RCV000668544 RCV000665404 RCV000669345 RCV000670966 RCV000664578 RCV000673256 RCV000674590 RCV000666482 RCV000672972 RCV000665662 RCV000668900 RCV000678678 RCV000689235 RCV000797174 RCV000807151 RCV000793922 RCV000791731 RCV000813189 RCV000989855 RCV000989856 RCV000989857 RCV001004605 RCV001004606 RCV001004607 RCV002237505 RCV001060511 RCV001070041 RCV001044200 RCV001049851 RCV001089502 RCV001193577 RCV001194214 RCV001199904 RCV001219477 RCV001223619 RCV001225198 RCV001215828 RCV001235195 RCV001239773 RCV001250218 RCV001250217 RCV001293640 RCV001293638 RCV001293639 RCV001293645
Glycogen storage disease, type I	Pathogenic	rs80356488, rs1801175, rs80356482, rs80356479	RCV005357110 RCV005357111 RCV005357112 RCV001449697
Hepatocellular carcinoma	Likely pathogenic; Pathogenic	rs80356484	RCV005887473
Hypoglycemia	Pathogenic	rs1801175	RCV000626623
Increased hepatic glycogen content	Likely pathogenic	rs2544214315	RCV003126212
Short stature	Pathogenic	rs1801175	RCV000626623

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Thymoma	Benign	rs161626	RCV005911366

G6PC1 (glucose-6-phosphatase catalytic subunit 1)