G6PC1 (glucose-6-phosphatase catalytic subunit 1)

Gene

• Entrez ID: 2538
• Gene name: Glucose-6-phosphatase catalytic subunit 1
• Gene symbol: G6PC1
• Synonyms: G6PC, G6PT, G6Pase, GSD1, GSD1a
• 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-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]

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006281	hsa-miR-23a-3p	Luciferase reporter assay	22318941
MIRT054921	hsa-miR-33b-5p	Luciferase reporter assay, qRT-PCR	23716591
MIRT461650	hsa-miR-4309	PAR-CLIP	23592263
MIRT461651	hsa-miR-3198	PAR-CLIP	23592263
MIRT461652	hsa-miR-106a-3p	PAR-CLIP	23592263
MIRT461653	hsa-miR-3650	PAR-CLIP	23592263
MIRT461654	hsa-miR-122-5p	PAR-CLIP	23592263
MIRT461655	hsa-miR-504-3p	PAR-CLIP	23592263
MIRT461656	hsa-miR-4726-3p	PAR-CLIP	23592263
MIRT461657	hsa-miR-1298-3p	PAR-CLIP	23592263
MIRT461658	hsa-miR-454-3p	PAR-CLIP	23592263
MIRT461659	hsa-miR-3666	PAR-CLIP	23592263
MIRT461660	hsa-miR-4295	PAR-CLIP	23592263
MIRT461661	hsa-miR-301b-3p	PAR-CLIP	23592263
MIRT461662	hsa-miR-301a-3p	PAR-CLIP	23592263
MIRT461663	hsa-miR-130b-3p	PAR-CLIP	23592263
MIRT461664	hsa-miR-130a-3p	PAR-CLIP	23592263
MIRT496505	hsa-miR-19a-3p	PAR-CLIP	22291592
MIRT496506	hsa-miR-3189-5p	PAR-CLIP	22291592
MIRT496507	hsa-miR-4758-3p	PAR-CLIP	22291592
MIRT496508	hsa-miR-5699-5p	PAR-CLIP	22291592
MIRT496509	hsa-miR-203a-3p	PAR-CLIP	22291592
MIRT496510	hsa-miR-4762-5p	PAR-CLIP	22291592
MIRT496511	hsa-miR-365b-3p	PAR-CLIP	22291592
MIRT496512	hsa-miR-365a-3p	PAR-CLIP	22291592
MIRT532113	hsa-miR-539-3p	PAR-CLIP	22012620
MIRT532114	hsa-miR-485-3p	PAR-CLIP	22012620
MIRT532115	hsa-miR-4536-5p	PAR-CLIP	22012620
MIRT532116	hsa-miR-664a-3p	PAR-CLIP	22012620
MIRT532117	hsa-miR-6074	PAR-CLIP	22012620
MIRT532118	hsa-miR-3163	PAR-CLIP	22012620
MIRT532119	hsa-miR-577	PAR-CLIP	22012620
MIRT532120	hsa-miR-5692a	PAR-CLIP	22012620
MIRT532121	hsa-miR-3662	PAR-CLIP	22012620
MIRT532122	hsa-miR-4668-5p	PAR-CLIP	22012620
MIRT532123	hsa-miR-1253	PAR-CLIP	22012620
MIRT532124	hsa-miR-4311	PAR-CLIP	22012620
MIRT574248	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT574249	hsa-miR-6821-5p	PAR-CLIP	20371350
MIRT574250	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT574251	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT574252	hsa-miR-4793-5p	PAR-CLIP	20371350
MIRT574253	hsa-miR-5196-3p	PAR-CLIP	20371350
MIRT574254	hsa-miR-136-3p	PAR-CLIP	20371350
MIRT650121	hsa-miR-514b-5p	HITS-CLIP	23824327
MIRT650122	hsa-miR-513c-5p	HITS-CLIP	23824327
MIRT650123	hsa-miR-4284	HITS-CLIP	23824327
MIRT650124	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT650125	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT650126	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT650127	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT650128	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT650129	hsa-miR-6890-3p	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004346	Function	Glucose-6-phosphatase activity	EXP	12093795
GO:0004346	Function	Glucose-6-phosphatase activity	IBA	21873635
GO:0004346	Function	Glucose-6-phosphatase activity	IDA	8211187, 10318794, 15661744
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005977	Process	Glycogen metabolic process	TAS	8211187
GO:0005980	Process	Glycogen catabolic process	IEA
GO:0006094	Process	Gluconeogenesis	IBA	21873635
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	21873635
GO:0016021	Component	Integral component of membrane	IDA	10318794
GO:0016773	Function	Phosphotransferase activity, alcohol group as acceptor	IEA
GO:0030176	Component	Integral component of endoplasmic reticulum membrane	TAS	10318794
GO:0032094	Process	Response to food	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	IMP	8211187
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0046415	Process	Urate metabolic process	IEA
GO:0046838	Process	Phosphorylated carbohydrate dephosphorylation	IEA
GO:0051156	Process	Glucose 6-phosphate metabolic process	IBA	21873635
GO:1904638	Process	Response to resveratrol	IEA

Other IDs

• MIM: 613742
• HGNC: 4056
• e!Ensembl: 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. Hence, it is the key enzyme in homeostatic regulation of blood glucose levels.
• 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