P35575A1L4C0B4E1C3K7EL82G6PC1_HUMANGlucose-6-phosphatase catalytic subunit 13.1.3.9Glucose-6-phosphataseG-6-PaseG6PaseGlucose-6-phosphatase alphaG6Pase-alphaG6PC1G6PCG6PTHomo sapiensHumanEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomoMutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)Complete sequencing and characterization of 21,243 full-length human cDNAs.NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2)DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)Transmembrane topology of glucose-6-phosphatase.TOPOLOGYFUNCTIONCATALYTIC ACTIVITYMUTAGENESIS OF HIS-176ACTIVE SITESUBCELLULAR LOCATIONAsparagine-linked oligosaccharides are localized to a luminal hydrophilic loop in human glucose-6-phosphatase.GLYCOSYLATION AT ASN-96The catalytic center of glucose-6-phosphatase. HIS176 is the nucleophile forming the phosphohistidine-enzyme intermediate during catalysis.ACTIVE SITESMUTAGENESIS OF HIS-9; HIS-52; HIS-119; HIS-176; HIS-179; HIS-197; HIS-252; HIS-307 AND HIS-353CHARACTERIZATION OF VARIANTS ASN-76; CYS-83 AND GLN-170CATALYTIC ACTIVITYFUNCTIONGlycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-96Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.VARIANT GSD1A CYS-83Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.VARIANTS GSD1ACharacterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab.VARIANTS GSD1A CYS-83 AND GLY-166Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia.VARIANT GSD1A ILE-83Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family.VARIANTS GSD1A HIS-83 AND ASN-341Mutation analysis in 24 French patients with glycogen storage disease type 1a.VARIANTS GSD1A VAL-38; ARG-77; LYS-110; THR-124; GLU-184; ARG-188 AND PRO-211Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies.VARIANTS GSD1A CYS-83 AND GLY-166CHARACTERIZATION OF VARIANT GSD1A GLY-166FUNCTIONCATALYTIC ACTIVITYMolecular aspects of glycogen storage disease type Ia in Turkish patients: a novel mutation in the glucose-6-phosphatase gene.VARIANTS GSD1A CYS-83; GLN-170 AND TRP-270A novel mutation in a Brazilian patient with glycogen storage disease type 1a.VARIANT GSD1A ARG-68A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a.VARIANTS GSD1A CYS-83 AND LYS-264Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified.VARIANTS GSD1A VAL-266 AND PHE-338Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia.VARIANTS GSD1A PRO-54 AND ILE-108Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia.VARIANTS GSD1A VAL-38; ARG-63; CYS-83; VAL-184; ARG-222; VAL-270; CYS-295; PRO-298 AND PHE-338Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.VARIANTS GSD1A HIS-83; ASP-122; PRO-179 AND LEU-257Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations.VARIANTS GSD1A ARG-20; ARG-81; LEU-156 AND ASP-188Identification of a novel missense mutation (T16A) in the glucose-6-phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (von Gierke disease).VARIANT GSD1A ALA-16Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type Ia, including novel mutations K76N, V166A and 540del5.VARIANTS GSD1A ASN-76; ARG-77; CYS-83; ALA-166; ARG-188 AND CYS-295Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients.VARIANTS GSD1A ARG-5; VAL-38; PRO-54; CYS-83; ILE-108; LYS-110; ILE-111; GLU-184; ARG-188; THR-241; ARG-270; VAL-270; LEU-322; PHE-327 DEL AND PHE-338A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (von Gierke disease).VARIANT GSD1A LEU-119Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype.VARIANT GSD1A ARG-188CHARACTERIZATION OF VARIANT GSD1A ARG-188CATALYTIC ACTIVITYFUNCTIONGlycogen storage disease type I: diagnosis and phenotype/genotype correlation.VARIANTS GSD1A ARG-20; VAL-38; PRO-65; ARG-68; ARG-77; ARG-81; CYS-83; HIS-83; LYS-110; LEU-113; LEU-156; GLN-170; CYS-177; SER-178; ARG-188; SER-188; ARG-236; PRO-265; VAL-270; PHE-327 DEL AND ARG-345Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population.VARIANT GSD1A CYS-83Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia.VARIANTS GSD1A ASP-122; ALA-178 AND ILE-255Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability.VARIANTS GSD1A ARG-16; PRO-54; CYS-83 AND CYS-209CHARACTERIZATION OF VARIANTS GSD1A ARG-16 AND CYS-209CATALYTIC ACTIVITYFUNCTIONThe consensus coding sequences of human breast and colorectal cancers.VARIANT [LARGE SCALE ANALYSIS] LEU-116Hydrolyzes 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.D-glucose 6-phosphate + H2O = D-glucose + phosphateCarbohydrate biosynthesis; gluconeogenesis.P35575Q9Y3C5false3P35575O76024false3Endoplasmic reticulum membraneMulti-pass membrane proteinP35575-11P35575-22Glycogen storage disease 1A
GSD1A
A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia.The disease is caused by variants affecting the gene represented in this entry.Belongs to the glucose-6-phosphatase family.Extended N-terminus.Alternative splicingDisease variantEndoplasmic reticulumGluconeogenesisGlycogen storage diseaseGlycoproteinHydrolaseMembraneReference proteomeTransmembraneTransmembrane helixsubstratesubstrateSPSGHAMGTAGVYYVMVTSTLSIFQGKIKPTYRFRCLNVILWLGFWAVQLNVCLSRIYLAAKDKADLQISVLECHFVVGILGCAAECLSVTNLPCCSFSSSSCCWSPVRHCCCRNFQPHPQHMRTATRQRDVQPWRAPGRKNWRGRRCRHRITIEKTIPLPLHLGDATWLVAVGRQFCPAPSHPGEGVGDGRGSYCLPGRWRATTIPLNKLPGVGRGVGWRCSPFLVFINLRHAHAHAHAIKMNSRHAHTHAHAHACRATMEEGMNVLHDFGIQSTHYLQVNYQDSQDWFILVSVIADLRNAFYVLFPIWFHLQEAVGIKLLWVAVIGDWLNLVFKWILFGQRPYWWVLDTDYYSNTSVPLIKQFPVTCETGPGSPSGHAMGTAGVYYVMVTSTLSIFQGKIKPTYRFRCLNVILWLGFWAVQLNVCLSRIYLAAHFPHQVVAGVLSGIAVAETFSHIHSIYNASLKKYFLITFFLFSFAIGFYLLLKGLGVDLLWTLEKAQRWCEQPEWVHIDTTPFASLLKNLGTLFGLGLALNSSMYRESCKGKLSKWLPFRLSSIVASLVLLHVFDSLKPPSQVELVFYVLSFCKSAVVPLASVSVIPYCLAQVLGQPHKKSL
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