GenTIGS

Glucose-6-phosphatase catalytic subunit 1 (G6PC1) Associated conditions: 1. Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_000151.4	NP_000142.2	NC_000017.11	(42900798..42914437)	Reference GRCh38.p14 Primary Assembly	P35575
2	REVIEWED	NM_001270397.2	NP_001257326.1	NC_000017.11	(42900798..42914437)	Reference GRCh38.p14 Primary Assembly	P35575

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 187 reference articles

Variant Information Glucose-6-phosphatase catalytic subunit 1 (G6PC1) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Glucose-6-phosphatase catalytic subunit 1 (G6PC1)

ClinVar variants:Revealing mutagenic patterns

GO Term of Glucose-6-phosphatase catalytic subunit 1 (G6PC1)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	EXP	enables	glucose-6-phosphatase activity	Function	12093795
2	Homo sapiens	IBA	enables	glucose-6-phosphatase activity	Function	21873635
3	Homo sapiens	IDA	enables	glucose-6-phosphatase activity	Function	8211187 10318794 15661744
4	Homo sapiens	TAS	enables	glucose-6-phosphatase activity	Function	-
5	Homo sapiens	IPI	enables	protein binding	Function	32814053
6	Homo sapiens	TAS	located_in	endoplasmic reticulum membrane	Component	10318794
7	Homo sapiens	TAS	involved_in	glycogen metabolic process	Process	8211187
8	Homo sapiens	IEA	involved_in	glycogen catabolic process	Process	-
9	Homo sapiens	IBA	involved_in	gluconeogenesis	Process	21873635
10	Homo sapiens	IEA	involved_in	gluconeogenesis	Process	-
11	Homo sapiens	IMP	involved_in	gluconeogenesis	Process	8211187
12	Homo sapiens	TAS	involved_in	gluconeogenesis	Process	-
13	Homo sapiens	IEA	involved_in	triglyceride metabolic process	Process	-
14	Homo sapiens	IEA	involved_in	steroid metabolic process	Process	-
15	Homo sapiens	IEA	involved_in	regulation of gene expression	Process	-
16	Homo sapiens	IEA	involved_in	glucose-6-phosphate transport	Process	-
17	Homo sapiens	IBA	is_active_in	membrane	Component	21873635
18	Homo sapiens	IDA	located_in	membrane	Component	10318794
19	Homo sapiens	IEA	enables	phosphotransferase activity, alcohol group as acceptor	Function	-
20	Homo sapiens	IEA	involved_in	multicellular organism growth	Process	-
21	Homo sapiens	IMP	enables	phosphate ion binding	Function	12093795
22	Homo sapiens	IMP	involved_in	glucose homeostasis	Process	8211187
23	Homo sapiens	IEA	involved_in	cholesterol homeostasis	Process	-
24	Homo sapiens	IEA	involved_in	urate metabolic process	Process	-
25	Homo sapiens	IBA	involved_in	glucose 6-phosphate metabolic process	Process	21873635