UniProtKB - P35575 (G6PC_HUMAN)
Protein
Glucose-6-phosphatase
Gene
G6PC
Organism
Homo sapiens (Human)
Status
Functioni
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 through glycogenolysis and gluconeogenesis. Hence, it is the key enzyme in homeostatic regulation of blood glucose levels.
Catalytic activityi
- EC:3.1.3.9
: gluconeogenesis Pathwayi
This protein is involved in the pathway gluconeogenesis, which is part of Carbohydrate biosynthesis.View all proteins of this organism that are known to be involved in the pathway gluconeogenesis and in Carbohydrate biosynthesis.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 83 | SubstrateSequence analysis | 1 | |
Active sitei | 119 | Proton donorSequence analysis | 1 | |
Binding sitei | 170 | SubstrateSequence analysis | 1 | |
Active sitei | 176 | Nucleophile1 Publication | 1 |
GO - Molecular functioni
- glucose-6-phosphatase activity Source: UniProtKB
- phosphate ion binding Source: UniProtKB
- phosphotransferase activity, alcohol group as acceptor Source: Ensembl
GO - Biological processi
- cellular response to insulin stimulus Source: Ensembl
- cholesterol homeostasis Source: Ensembl
- gluconeogenesis Source: UniProtKB
- glucose 6-phosphate metabolic process Source: GO_Central
- glucose-6-phosphate transport Source: Ensembl
- glucose homeostasis Source: UniProtKB
- glycogen catabolic process Source: Ensembl
- glycogen metabolic process Source: ProtInc
- multicellular organism growth Source: Ensembl
- phosphorylated carbohydrate dephosphorylation Source: Ensembl
- regulation of gene expression Source: Ensembl
- response to carbohydrate Source: Ensembl
- response to food Source: Ensembl
- response to resveratrol Source: Ensembl
- steroid metabolic process Source: Ensembl
- triglyceride metabolic process Source: Ensembl
- urate metabolic process Source: Ensembl
Keywordsi
Molecular function | Hydrolase |
Biological process | Gluconeogenesis |
Enzyme and pathway databases
BioCyci | MetaCyc:HS05538-MONOMER |
BRENDAi | 3.1.3.9, 2681 |
PathwayCommonsi | P35575 |
Reactomei | R-HSA-3274531, Glycogen storage disease type Ia (G6PC) R-HSA-70263, Gluconeogenesis R-HSA-9615017, FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes |
SABIO-RKi | P35575 |
SIGNORi | P35575 |
UniPathwayi | UPA00138 |
Names & Taxonomyi
Protein namesi | Recommended name: Glucose-6-phosphatase (EC:3.1.3.9)Short name: G-6-Pase Short name: G6Pase Alternative name(s): Glucose-6-phosphatase alpha Short name: G6Pase-alpha |
Gene namesi | Name:G6PC Synonyms:G6PT |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:4056, G6PC |
MIMi | 613742, gene |
neXtProti | NX_P35575 |
VEuPathDBi | HostDB:ENSG00000131482.9 |
Subcellular locationi
Endoplasmic reticulum
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: Reactome
- integral component of endoplasmic reticulum membrane Source: UniProtKB
Other locations
- integral component of membrane Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 28 | LumenalSequence analysisAdd BLAST | 28 | |
Transmembranei | 29 – 49 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 50 – 60 | CytoplasmicSequence analysisAdd BLAST | 11 | |
Transmembranei | 61 – 81 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 82 – 117 | LumenalSequence analysisAdd BLAST | 36 | |
Transmembranei | 118 – 138 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 139 – 147 | CytoplasmicSequence analysis | 9 | |
Transmembranei | 148 – 168 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 169 – 179 | LumenalSequence analysisAdd BLAST | 11 | |
Transmembranei | 180 – 202 | HelicalSequence analysisAdd BLAST | 23 | |
Topological domaini | 203 – 209 | CytoplasmicSequence analysis | 7 | |
Transmembranei | 210 – 230 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 231 – 254 | LumenalSequence analysisAdd BLAST | 24 | |
Transmembranei | 255 – 275 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 276 – 291 | CytoplasmicSequence analysisAdd BLAST | 16 | |
Transmembranei | 292 – 312 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 313 – 320 | LumenalSequence analysis | 8 | |
Transmembranei | 321 – 341 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 342 – 357 | CytoplasmicSequence analysisAdd BLAST | 16 |
Keywords - Cellular componenti
Endoplasmic reticulum, MembranePathology & Biotechi
Involvement in diseasei
Glycogen storage disease 1A (GSD1A)24 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_046249 | 5 | M → R in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs1250172816EnsemblClinVar. | 1 | |
Natural variantiVAR_046250 | 16 | T → A in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs761839506Ensembl. | 1 | |
Natural variantiVAR_046251 | 16 | T → R in GSD1A; complete loss of activity and reduced enzyme stability. 1 PublicationCorresponds to variant dbSNP:rs1555558914EnsemblClinVar. | 1 | |
Natural variantiVAR_009202 | 20 | Q → R in GSD1A. 2 Publications | 1 | |
Natural variantiVAR_005237 | 38 | D → V in GSD1A. 4 PublicationsCorresponds to variant dbSNP:rs104894565EnsemblClinVar. | 1 | |
Natural variantiVAR_009203 | 54 | Q → P in GSD1A. 3 PublicationsCorresponds to variant dbSNP:rs1057517008EnsemblClinVar. | 1 | |
Natural variantiVAR_046252 | 63 | W → R in GSD1A. 1 Publication | 1 | |
Natural variantiVAR_046253 | 65 | A → P in GSD1A. 1 Publication | 1 | |
Natural variantiVAR_046254 | 68 | G → R in GSD1A. 2 PublicationsCorresponds to variant dbSNP:rs1567702819Ensembl. | 1 | |
Natural variantiVAR_046255 | 76 | K → N in GSD1A; loss of catalytic activity. 2 Publications | 1 | |
Natural variantiVAR_005238 | 77 | W → R in GSD1A. 3 PublicationsCorresponds to variant dbSNP:rs104894566EnsemblClinVar. | 1 | |
Natural variantiVAR_009204 | 81 | G → R in GSD1A. 2 PublicationsCorresponds to variant dbSNP:rs756632286EnsemblClinVar. | 1 | |
Natural variantiVAR_005239 | 83 | R → C in GSD1A; complete loss of activity; prevalent mutation in Ashkenazi Jewish population. 12 PublicationsCorresponds to variant dbSNP:rs1801175EnsemblClinVar. | 1 | |
Natural variantiVAR_005240 | 83 | R → H in GSD1A. 3 PublicationsCorresponds to variant dbSNP:rs1801176EnsemblClinVar. | 1 | |
Natural variantiVAR_005241 | 83 | R → I in GSD1A. 1 Publication | 1 | |
Natural variantiVAR_009205 | 108 | T → I in GSD1A. 2 Publications | 1 | |
Natural variantiVAR_005242 | 110 | E → K in GSD1A. 3 PublicationsCorresponds to variant dbSNP:rs104894567EnsemblClinVar. | 1 | |
Natural variantiVAR_046256 | 111 | T → I in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs1203167759Ensembl. | 1 | |
Natural variantiVAR_046257 | 113 | P → L in GSD1A. 1 Publication | 1 | |
Natural variantiVAR_046258 | 119 | H → L in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs1401928680Ensembl. | 1 | |
Natural variantiVAR_046259 | 122 | G → D in GSD1A. 2 PublicationsCorresponds to variant dbSNP:rs759982943Ensembl. | 1 | |
Natural variantiVAR_005243 | 124 | A → T in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs104894568EnsemblClinVar. | 1 | |
Natural variantiVAR_009206 | 156 | W → L in GSD1A. 2 PublicationsCorresponds to variant dbSNP:rs1189630738EnsemblClinVar. | 1 | |
Natural variantiVAR_046260 | 166 | V → A in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs104894571EnsemblClinVar. | 1 | |
Natural variantiVAR_005244 | 166 | V → G in GSD1A; complete loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs104894571EnsemblClinVar. | 1 | |
Natural variantiVAR_046261 | 170 | R → Q in GSD1A; loss of catalytic activity. 3 PublicationsCorresponds to variant dbSNP:rs750470654Ensembl. | 1 | |
Natural variantiVAR_046262 | 177 | F → C in GSD1A. 1 Publication | 1 | |
Natural variantiVAR_065164 | 178 | P → A in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs763543607Ensembl. | 1 | |
Natural variantiVAR_046263 | 178 | P → S in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs763543607Ensembl. | 1 | |
Natural variantiVAR_046264 | 179 | H → P in GSD1A. 1 Publication | 1 | |
Natural variantiVAR_005245 | 184 | G → E in GSD1A. 2 PublicationsCorresponds to variant dbSNP:rs104894569EnsemblClinVar. | 1 | |
Natural variantiVAR_046265 | 184 | G → V in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs104894569EnsemblClinVar. | 1 | |
Natural variantiVAR_009207 | 188 | G → D in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs760981149Ensembl. | 1 | |
Natural variantiVAR_005246 | 188 | G → R in GSD1A; complete loss of activity. 5 PublicationsCorresponds to variant dbSNP:rs80356482EnsemblClinVar. | 1 | |
Natural variantiVAR_046266 | 188 | G → S in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs80356482EnsemblClinVar. | 1 | |
Natural variantiVAR_046268 | 209 | Y → C in GSD1A; complete loss of activity and reduced enzyme stability. 1 Publication | 1 | |
Natural variantiVAR_005247 | 211 | L → P in GSD1A. 1 Publication | 1 | |
Natural variantiVAR_005248 | 222 | G → R in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs1410392732Ensembl. | 1 | |
Natural variantiVAR_046269 | 236 | W → R in GSD1A. 1 Publication | 1 | |
Natural variantiVAR_046270 | 241 | A → T in GSD1A. 1 Publication | 1 | |
Natural variantiVAR_065165 | 255 | T → I in GSD1A. 1 Publication | 1 | |
Natural variantiVAR_046271 | 257 | P → L in GSD1A. 1 Publication | 1 | |
Natural variantiVAR_046272 | 264 | N → K in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs1555560149EnsemblClinVar. | 1 | |
Natural variantiVAR_046273 | 265 | L → P in GSD1A. 1 Publication | 1 | |
Natural variantiVAR_005249 | 266 | G → V in GSD1A. 1 Publication | 1 | |
Natural variantiVAR_046274 | 270 | G → R in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs1272803483Ensembl. | 1 | |
Natural variantiVAR_005250 | 270 | G → V in GSD1A. 3 PublicationsCorresponds to variant dbSNP:rs80356483EnsemblClinVar. | 1 | |
Natural variantiVAR_046275 | 270 | G → W in GSD1A. 1 Publication | 1 | |
Natural variantiVAR_005251 | 295 | R → C in GSD1A. 2 PublicationsCorresponds to variant dbSNP:rs104894563EnsemblClinVar. | 1 | |
Natural variantiVAR_046276 | 298 | S → P in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs770003650Ensembl. | 1 | |
Natural variantiVAR_046277 | 322 | F → L in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs1399520060Ensembl. | 1 | |
Natural variantiVAR_005252 | 327 | Missing in GSD1A. 2 Publications | 1 | |
Natural variantiVAR_005253 | 338 | V → F in GSD1A. 3 PublicationsCorresponds to variant dbSNP:rs367727229EnsemblClinVar. | 1 | |
Natural variantiVAR_005254 | 341 | I → N in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs387906505EnsemblClinVar. | 1 | |
Natural variantiVAR_046278 | 345 | L → R in GSD1A. 1 Publication | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 9 | H → A: Partial loss of catalytic activity. 1 Publication | 1 | |
Mutagenesisi | 52 | H → A: Partial loss of catalytic activity. 1 Publication | 1 | |
Mutagenesisi | 119 | H → A: Loss of catalytic activity. 1 Publication | 1 | |
Mutagenesisi | 176 | H → A: Loss of catalytic activity. 1 Publication | 1 | |
Mutagenesisi | 179 | H → A: Loss of catalytic activity. 1 Publication | 1 | |
Mutagenesisi | 197 | H → T: Partial loss of catalytic activity. 1 Publication | 1 | |
Mutagenesisi | 252 | H → A: Partial loss of catalytic activity. 1 Publication | 1 | |
Mutagenesisi | 307 | H → A: Partial loss of catalytic activity. 1 Publication | 1 | |
Mutagenesisi | 353 | H → A: Partial loss of catalytic activity. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Glycogen storage diseaseOrganism-specific databases
DisGeNETi | 2538 |
GeneReviewsi | G6PC |
MalaCardsi | G6PC |
MIMi | 232200, phenotype |
OpenTargetsi | ENSG00000131482 |
Orphaneti | 79258, Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia |
PharmGKBi | PA28468 |
Miscellaneous databases
Pharosi | P35575, Tchem |
Chemistry databases
ChEMBLi | CHEMBL2282 |
Genetic variation databases
BioMutai | G6PC |
DMDMi | 206729864 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000087413 | 1 – 357 | Glucose-6-phosphataseAdd BLAST | 357 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 96 | N-linked (GlcNAc...) asparagine2 Publications | 1 |
Keywords - PTMi
GlycoproteinProteomic databases
jPOSTi | P35575 |
MassIVEi | P35575 |
PaxDbi | P35575 |
PeptideAtlasi | P35575 |
PRIDEi | P35575 |
ProteomicsDBi | 55092 [P35575-1] |
PTM databases
DEPODi | G6PC |
GlyConnecti | 1267, 1 N-Linked glycan (1 site) |
GlyGeni | P35575, 1 site |
iPTMneti | P35575 |
PhosphoSitePlusi | P35575 |
Expressioni
Gene expression databases
Bgeei | ENSG00000131482, Expressed in liver and 66 other tissues |
ExpressionAtlasi | P35575, baseline and differential |
Genevisiblei | P35575, HS |
Organism-specific databases
HPAi | ENSG00000131482, Tissue enriched (liver) |
Interactioni
Binary interactionsi
Hide detailsProtein-protein interaction databases
BioGRIDi | 108813, 3 interactors |
IntActi | P35575, 5 interactors |
STRINGi | 9606.ENSP00000253801 |
Chemistry databases
BindingDBi | P35575 |
Miscellaneous databases
RNActi | P35575, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the glucose-6-phosphatase family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502QS9B, Eukaryota |
GeneTreei | ENSGT00950000183150 |
HOGENOMi | CLU_052517_0_0_1 |
InParanoidi | P35575 |
OMAi | ETFRHIQ |
OrthoDBi | 743717at2759 |
PhylomeDBi | P35575 |
TreeFami | TF324388 |
Family and domain databases
InterProi | View protein in InterPro IPR016275, Glucose-6-phosphatase IPR036938, P_Acid_Pase_2/haloperoxi_sf IPR000326, P_Acid_Pase_2/haloperoxidase |
Pfami | View protein in Pfam PF01569, PAP2, 1 hit |
PIRSFi | PIRSF000905, Glucose-6-phosphatase, 1 hit |
SMARTi | View protein in SMART SM00014, acidPPc, 1 hit |
SUPFAMi | SSF48317, SSF48317, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: P35575-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MEEGMNVLHD FGIQSTHYLQ VNYQDSQDWF ILVSVIADLR NAFYVLFPIW
60 70 80 90 100
FHLQEAVGIK LLWVAVIGDW LNLVFKWILF GQRPYWWVLD TDYYSNTSVP
110 120 130 140 150
LIKQFPVTCE TGPGSPSGHA MGTAGVYYVM VTSTLSIFQG KIKPTYRFRC
160 170 180 190 200
LNVILWLGFW AVQLNVCLSR IYLAAHFPHQ VVAGVLSGIA VAETFSHIHS
210 220 230 240 250
IYNASLKKYF LITFFLFSFA IGFYLLLKGL GVDLLWTLEK AQRWCEQPEW
260 270 280 290 300
VHIDTTPFAS LLKNLGTLFG LGLALNSSMY RESCKGKLSK WLPFRLSSIV
310 320 330 340 350
ASLVLLHVFD SLKPPSQVEL VFYVLSFCKS AVVPLASVSV IPYCLAQVLG
QPHKKSL
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketK7ELS6 | K7ELS6_HUMAN | Glucose-6-phosphatase | G6PC | 163 | Annotation score: |
Sequence cautioni
The sequence BAG64735 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 109 | C → R in BAG64735 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 192 | A → T in AAA16222 (PubMed:8211187).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_046249 | 5 | M → R in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs1250172816EnsemblClinVar. | 1 | |
Natural variantiVAR_046250 | 16 | T → A in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs761839506Ensembl. | 1 | |
Natural variantiVAR_046251 | 16 | T → R in GSD1A; complete loss of activity and reduced enzyme stability. 1 PublicationCorresponds to variant dbSNP:rs1555558914EnsemblClinVar. | 1 | |
Natural variantiVAR_009202 | 20 | Q → R in GSD1A. 2 Publications | 1 | |
Natural variantiVAR_005237 | 38 | D → V in GSD1A. 4 PublicationsCorresponds to variant dbSNP:rs104894565EnsemblClinVar. | 1 | |
Natural variantiVAR_009203 | 54 | Q → P in GSD1A. 3 PublicationsCorresponds to variant dbSNP:rs1057517008EnsemblClinVar. | 1 | |
Natural variantiVAR_046252 | 63 | W → R in GSD1A. 1 Publication | 1 | |
Natural variantiVAR_046253 | 65 | A → P in GSD1A. 1 Publication | 1 | |
Natural variantiVAR_046254 | 68 | G → R in GSD1A. 2 PublicationsCorresponds to variant dbSNP:rs1567702819Ensembl. | 1 | |
Natural variantiVAR_046255 | 76 | K → N in GSD1A; loss of catalytic activity. 2 Publications | 1 | |
Natural variantiVAR_005238 | 77 | W → R in GSD1A. 3 PublicationsCorresponds to variant dbSNP:rs104894566EnsemblClinVar. | 1 | |
Natural variantiVAR_009204 | 81 | G → R in GSD1A. 2 PublicationsCorresponds to variant dbSNP:rs756632286EnsemblClinVar. | 1 | |
Natural variantiVAR_005239 | 83 | R → C in GSD1A; complete loss of activity; prevalent mutation in Ashkenazi Jewish population. 12 PublicationsCorresponds to variant dbSNP:rs1801175EnsemblClinVar. | 1 | |
Natural variantiVAR_005240 | 83 | R → H in GSD1A. 3 PublicationsCorresponds to variant dbSNP:rs1801176EnsemblClinVar. | 1 | |
Natural variantiVAR_005241 | 83 | R → I in GSD1A. 1 Publication | 1 | |
Natural variantiVAR_009205 | 108 | T → I in GSD1A. 2 Publications | 1 | |
Natural variantiVAR_005242 | 110 | E → K in GSD1A. 3 PublicationsCorresponds to variant dbSNP:rs104894567EnsemblClinVar. | 1 | |
Natural variantiVAR_046256 | 111 | T → I in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs1203167759Ensembl. | 1 | |
Natural variantiVAR_046257 | 113 | P → L in GSD1A. 1 Publication | 1 | |
Natural variantiVAR_035922 | 116 | P → L in a breast cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_046258 | 119 | H → L in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs1401928680Ensembl. | 1 | |
Natural variantiVAR_046259 | 122 | G → D in GSD1A. 2 PublicationsCorresponds to variant dbSNP:rs759982943Ensembl. | 1 | |
Natural variantiVAR_005243 | 124 | A → T in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs104894568EnsemblClinVar. | 1 | |
Natural variantiVAR_009206 | 156 | W → L in GSD1A. 2 PublicationsCorresponds to variant dbSNP:rs1189630738EnsemblClinVar. | 1 | |
Natural variantiVAR_046260 | 166 | V → A in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs104894571EnsemblClinVar. | 1 | |
Natural variantiVAR_005244 | 166 | V → G in GSD1A; complete loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs104894571EnsemblClinVar. | 1 | |
Natural variantiVAR_046261 | 170 | R → Q in GSD1A; loss of catalytic activity. 3 PublicationsCorresponds to variant dbSNP:rs750470654Ensembl. | 1 | |
Natural variantiVAR_046262 | 177 | F → C in GSD1A. 1 Publication | 1 | |
Natural variantiVAR_065164 | 178 | P → A in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs763543607Ensembl. | 1 | |
Natural variantiVAR_046263 | 178 | P → S in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs763543607Ensembl. | 1 | |
Natural variantiVAR_046264 | 179 | H → P in GSD1A. 1 Publication | 1 | |
Natural variantiVAR_005245 | 184 | G → E in GSD1A. 2 PublicationsCorresponds to variant dbSNP:rs104894569EnsemblClinVar. | 1 | |
Natural variantiVAR_046265 | 184 | G → V in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs104894569EnsemblClinVar. | 1 | |
Natural variantiVAR_009207 | 188 | G → D in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs760981149Ensembl. | 1 | |
Natural variantiVAR_005246 | 188 | G → R in GSD1A; complete loss of activity. 5 PublicationsCorresponds to variant dbSNP:rs80356482EnsemblClinVar. | 1 | |
Natural variantiVAR_046266 | 188 | G → S in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs80356482EnsemblClinVar. | 1 | |
Natural variantiVAR_046268 | 209 | Y → C in GSD1A; complete loss of activity and reduced enzyme stability. 1 Publication | 1 | |
Natural variantiVAR_005247 | 211 | L → P in GSD1A. 1 Publication | 1 | |
Natural variantiVAR_005248 | 222 | G → R in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs1410392732Ensembl. | 1 | |
Natural variantiVAR_046269 | 236 | W → R in GSD1A. 1 Publication | 1 | |
Natural variantiVAR_046270 | 241 | A → T in GSD1A. 1 Publication | 1 | |
Natural variantiVAR_065165 | 255 | T → I in GSD1A. 1 Publication | 1 | |
Natural variantiVAR_046271 | 257 | P → L in GSD1A. 1 Publication | 1 | |
Natural variantiVAR_046272 | 264 | N → K in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs1555560149EnsemblClinVar. | 1 | |
Natural variantiVAR_046273 | 265 | L → P in GSD1A. 1 Publication | 1 | |
Natural variantiVAR_005249 | 266 | G → V in GSD1A. 1 Publication | 1 | |
Natural variantiVAR_046274 | 270 | G → R in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs1272803483Ensembl. | 1 | |
Natural variantiVAR_005250 | 270 | G → V in GSD1A. 3 PublicationsCorresponds to variant dbSNP:rs80356483EnsemblClinVar. | 1 | |
Natural variantiVAR_046275 | 270 | G → W in GSD1A. 1 Publication | 1 | |
Natural variantiVAR_005251 | 295 | R → C in GSD1A. 2 PublicationsCorresponds to variant dbSNP:rs104894563EnsemblClinVar. | 1 | |
Natural variantiVAR_046276 | 298 | S → P in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs770003650Ensembl. | 1 | |
Natural variantiVAR_046277 | 322 | F → L in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs1399520060Ensembl. | 1 | |
Natural variantiVAR_005252 | 327 | Missing in GSD1A. 2 Publications | 1 | |
Natural variantiVAR_005253 | 338 | V → F in GSD1A. 3 PublicationsCorresponds to variant dbSNP:rs367727229EnsemblClinVar. | 1 | |
Natural variantiVAR_005254 | 341 | I → N in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs387906505EnsemblClinVar. | 1 | |
Natural variantiVAR_046278 | 345 | L → R in GSD1A. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_047558 | 115 – 175 | SPSGH…IYLAA → KDKADLQISVLECHFVVGIL GCAAECLSVTNLPCCSFSSS SCCWSPVRHCCCRNFQPHPQ H in isoform 2. 1 PublicationAdd BLAST | 61 | |
Alternative sequenceiVSP_047559 | 176 – 356 | Missing in isoform 2. 1 PublicationAdd BLAST | 181 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U01120 mRNA Translation: AAA16222.1 AK303771 mRNA Translation: BAG64735.1 Different initiation. AK313982 mRNA Translation: BAG36695.1 AC016889 Genomic DNA No translation available. BC130478 mRNA Translation: AAI30479.1 BC136369 mRNA Translation: AAI36370.1 |
CCDSi | CCDS11446.1 [P35575-1] CCDS59291.1 [P35575-2] |
PIRi | A48251 |
RefSeqi | NP_000142.2, NM_000151.3 [P35575-1] NP_001257326.1, NM_001270397.1 [P35575-2] |
Genome annotation databases
Ensembli | ENST00000253801; ENSP00000253801; ENSG00000131482 [P35575-1] ENST00000592383; ENSP00000465958; ENSG00000131482 [P35575-2] |
GeneIDi | 2538 |
KEGGi | hsa:2538 |
UCSCi | uc002icb.3, human [P35575-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U01120 mRNA Translation: AAA16222.1 AK303771 mRNA Translation: BAG64735.1 Different initiation. AK313982 mRNA Translation: BAG36695.1 AC016889 Genomic DNA No translation available. BC130478 mRNA Translation: AAI30479.1 BC136369 mRNA Translation: AAI36370.1 |
CCDSi | CCDS11446.1 [P35575-1] CCDS59291.1 [P35575-2] |
PIRi | A48251 |
RefSeqi | NP_000142.2, NM_000151.3 [P35575-1] NP_001257326.1, NM_001270397.1 [P35575-2] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 108813, 3 interactors |
IntActi | P35575, 5 interactors |
STRINGi | 9606.ENSP00000253801 |
Chemistry databases
BindingDBi | P35575 |
ChEMBLi | CHEMBL2282 |
PTM databases
DEPODi | G6PC |
GlyConnecti | 1267, 1 N-Linked glycan (1 site) |
GlyGeni | P35575, 1 site |
iPTMneti | P35575 |
PhosphoSitePlusi | P35575 |
Genetic variation databases
BioMutai | G6PC |
DMDMi | 206729864 |
Proteomic databases
jPOSTi | P35575 |
MassIVEi | P35575 |
PaxDbi | P35575 |
PeptideAtlasi | P35575 |
PRIDEi | P35575 |
ProteomicsDBi | 55092 [P35575-1] |
Protocols and materials databases
Antibodypediai | 29454, 125 antibodies |
DNASUi | 2538 |
Genome annotation databases
Ensembli | ENST00000253801; ENSP00000253801; ENSG00000131482 [P35575-1] ENST00000592383; ENSP00000465958; ENSG00000131482 [P35575-2] |
GeneIDi | 2538 |
KEGGi | hsa:2538 |
UCSCi | uc002icb.3, human [P35575-1] |
Organism-specific databases
CTDi | 2538 |
DisGeNETi | 2538 |
GeneCardsi | G6PC |
GeneReviewsi | G6PC |
HGNCi | HGNC:4056, G6PC |
HPAi | ENSG00000131482, Tissue enriched (liver) |
MalaCardsi | G6PC |
MIMi | 232200, phenotype 613742, gene |
neXtProti | NX_P35575 |
OpenTargetsi | ENSG00000131482 |
Orphaneti | 79258, Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia |
PharmGKBi | PA28468 |
VEuPathDBi | HostDB:ENSG00000131482.9 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QS9B, Eukaryota |
GeneTreei | ENSGT00950000183150 |
HOGENOMi | CLU_052517_0_0_1 |
InParanoidi | P35575 |
OMAi | ETFRHIQ |
OrthoDBi | 743717at2759 |
PhylomeDBi | P35575 |
TreeFami | TF324388 |
Enzyme and pathway databases
UniPathwayi | UPA00138 |
BioCyci | MetaCyc:HS05538-MONOMER |
BRENDAi | 3.1.3.9, 2681 |
PathwayCommonsi | P35575 |
Reactomei | R-HSA-3274531, Glycogen storage disease type Ia (G6PC) R-HSA-70263, Gluconeogenesis R-HSA-9615017, FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes |
SABIO-RKi | P35575 |
SIGNORi | P35575 |
Miscellaneous databases
BioGRID-ORCSi | 2538, 5 hits in 873 CRISPR screens |
ChiTaRSi | G6PC, human |
GeneWikii | G6PC |
GenomeRNAii | 2538 |
Pharosi | P35575, Tchem |
PROi | PR:P35575 |
RNActi | P35575, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000131482, Expressed in liver and 66 other tissues |
ExpressionAtlasi | P35575, baseline and differential |
Genevisiblei | P35575, HS |
Family and domain databases
InterProi | View protein in InterPro IPR016275, Glucose-6-phosphatase IPR036938, P_Acid_Pase_2/haloperoxi_sf IPR000326, P_Acid_Pase_2/haloperoxidase |
Pfami | View protein in Pfam PF01569, PAP2, 1 hit |
PIRSFi | PIRSF000905, Glucose-6-phosphatase, 1 hit |
SMARTi | View protein in SMART SM00014, acidPPc, 1 hit |
SUPFAMi | SSF48317, SSF48317, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | G6PC_HUMAN | |
Accessioni | P35575Primary (citable) accession number: P35575 Secondary accession number(s): A1L4C0, B4E1C3, K7EL82 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 1, 1994 |
Last sequence update: | September 23, 2008 | |
Last modified: | February 10, 2021 | |
This is version 191 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - SIMILARITY comments
Index of protein domains and families - Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants