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P35575

- G6PC_HUMAN

UniProt

P35575 - G6PC_HUMAN

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Protein

Glucose-6-phosphatase

Gene

G6PC

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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

D-glucose 6-phosphate + H2O = D-glucose + phosphate.

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei83 – 831SubstrateSequence Analysis
Active sitei119 – 1191Proton donorSequence Analysis
Binding sitei170 – 1701SubstrateSequence Analysis
Active sitei176 – 1761Nucleophile1 Publication

GO - Molecular functioni

  1. glucose-6-phosphatase activity Source: UniProtKB
  2. phosphate ion binding Source: UniProtKB
  3. phosphotransferase activity, alcohol group as acceptor Source: Ensembl

GO - Biological processi

  1. carbohydrate metabolic process Source: Reactome
  2. cholesterol homeostasis Source: Ensembl
  3. dephosphorylation Source: GOC
  4. gluconeogenesis Source: UniProtKB
  5. glucose 6-phosphate metabolic process Source: Ensembl
  6. glucose-6-phosphate transport Source: Ensembl
  7. glucose homeostasis Source: UniProtKB
  8. glucose transport Source: Reactome
  9. glycogen catabolic process Source: Ensembl
  10. glycogen metabolic process Source: ProtInc
  11. hexose transport Source: Reactome
  12. multicellular organism growth Source: Ensembl
  13. regulation of gene expression Source: Ensembl
  14. small molecule metabolic process Source: Reactome
  15. steroid metabolic process Source: Ensembl
  16. transmembrane transport Source: Reactome
  17. triglyceride metabolic process Source: Ensembl
  18. urate metabolic process Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Gluconeogenesis

Enzyme and pathway databases

BioCyciMetaCyc:HS05538-MONOMER.
ReactomeiREACT_212. Glucose transport.
SABIO-RKP35575.
UniPathwayiUPA00138.

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:4056. G6PC.

Subcellular locationi

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: Reactome
  2. integral component of endoplasmic reticulum membrane Source: UniProtKB
  3. integral component of membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Glycogen storage disease 1A (GSD1A) [MIM:232200]: 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.24 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti5 – 51M → R in GSD1A. 1 Publication
VAR_046249
Natural varianti16 – 161T → A in GSD1A. 1 Publication
VAR_046250
Natural varianti16 – 161T → R in GSD1A; complete loss of activity and reduced enzyme stability. 1 Publication
VAR_046251
Natural varianti20 – 201Q → R in GSD1A. 2 Publications
VAR_009202
Natural varianti38 – 381D → V in GSD1A. 4 Publications
VAR_005237
Natural varianti54 – 541Q → P in GSD1A. 3 Publications
VAR_009203
Natural varianti63 – 631W → R in GSD1A. 1 Publication
VAR_046252
Natural varianti65 – 651A → P in GSD1A. 1 Publication
VAR_046253
Natural varianti68 – 681G → R in GSD1A. 2 Publications
VAR_046254
Natural varianti76 – 761K → N in GSD1A; loss of catalytic activity. 1 Publication
VAR_046255
Natural varianti77 – 771W → R in GSD1A. 3 Publications
VAR_005238
Natural varianti81 – 811G → R in GSD1A. 2 Publications
VAR_009204
Natural varianti83 – 831R → C in GSD1A; complete loss of activity; prevalent mutation in Ashkenazi Jewish population. 11 Publications
Corresponds to variant rs1801175 [ dbSNP | Ensembl ].
VAR_005239
Natural varianti83 – 831R → H in GSD1A. 3 Publications
Corresponds to variant rs1801176 [ dbSNP | Ensembl ].
VAR_005240
Natural varianti83 – 831R → I in GSD1A. 1 Publication
VAR_005241
Natural varianti108 – 1081T → I in GSD1A. 2 Publications
VAR_009205
Natural varianti110 – 1101E → K in GSD1A. 3 Publications
VAR_005242
Natural varianti111 – 1111T → I in GSD1A. 1 Publication
VAR_046256
Natural varianti113 – 1131P → L in GSD1A. 1 Publication
VAR_046257
Natural varianti119 – 1191H → L in GSD1A. 1 Publication
VAR_046258
Natural varianti122 – 1221G → D in GSD1A. 2 Publications
VAR_046259
Natural varianti124 – 1241A → T in GSD1A. 1 Publication
VAR_005243
Natural varianti156 – 1561W → L in GSD1A. 2 Publications
VAR_009206
Natural varianti166 – 1661V → A in GSD1A. 1 Publication
VAR_046260
Natural varianti166 – 1661V → G in GSD1A; complete loss of activity. 2 Publications
VAR_005244
Natural varianti170 – 1701R → Q in GSD1A; loss of catalytic activity. 2 Publications
VAR_046261
Natural varianti177 – 1771F → C in GSD1A. 1 Publication
VAR_046262
Natural varianti178 – 1781P → A in GSD1A. 1 Publication
VAR_065164
Natural varianti178 – 1781P → S in GSD1A. 1 Publication
VAR_046263
Natural varianti179 – 1791H → P in GSD1A. 1 Publication
VAR_046264
Natural varianti184 – 1841G → E in GSD1A. 2 Publications
VAR_005245
Natural varianti184 – 1841G → V in GSD1A. 1 Publication
VAR_046265
Natural varianti188 – 1881G → D in GSD1A. 1 Publication
VAR_009207
Natural varianti188 – 1881G → R in GSD1A; complete loss of activity. 5 Publications
VAR_005246
Natural varianti188 – 1881G → S in GSD1A. 1 Publication
VAR_046266
Natural varianti209 – 2091Y → C in GSD1A; complete loss of activity and reduced enzyme stability. 1 Publication
VAR_046268
Natural varianti211 – 2111L → P in GSD1A. 1 Publication
VAR_005247
Natural varianti222 – 2221G → R in GSD1A. 1 Publication
VAR_005248
Natural varianti236 – 2361W → R in GSD1A. 1 Publication
VAR_046269
Natural varianti241 – 2411A → T in GSD1A. 1 Publication
VAR_046270
Natural varianti255 – 2551T → I in GSD1A. 1 Publication
VAR_065165
Natural varianti257 – 2571P → L in GSD1A. 1 Publication
VAR_046271
Natural varianti264 – 2641N → K in GSD1A. 1 Publication
VAR_046272
Natural varianti265 – 2651L → P in GSD1A. 1 Publication
VAR_046273
Natural varianti266 – 2661G → V in GSD1A. 1 Publication
VAR_005249
Natural varianti270 – 2701G → R in GSD1A. 1 Publication
VAR_046274
Natural varianti270 – 2701G → V in GSD1A. 3 Publications
VAR_005250
Natural varianti270 – 2701G → W in GSD1A. 1 Publication
VAR_046275
Natural varianti295 – 2951R → C in GSD1A. 2 Publications
VAR_005251
Natural varianti298 – 2981S → P in GSD1A. 1 Publication
VAR_046276
Natural varianti322 – 3221F → L in GSD1A. 1 Publication
VAR_046277
Natural varianti327 – 3271Missing in GSD1A. 2 Publications
VAR_005252
Natural varianti338 – 3381V → F in GSD1A. 3 Publications
VAR_005253
Natural varianti341 – 3411I → N in GSD1A. 1 Publication
VAR_005254
Natural varianti345 – 3451L → R in GSD1A. 1 Publication
VAR_046278

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi9 – 91H → A: Partial loss of catalytic activity. 1 Publication
Mutagenesisi52 – 521H → A: Partial loss of catalytic activity. 1 Publication
Mutagenesisi119 – 1191H → A: Loss of catalytic activity. 1 Publication
Mutagenesisi176 – 1761H → A: Loss of catalytic activity. 1 Publication
Mutagenesisi179 – 1791H → A: Loss of catalytic activity. 1 Publication
Mutagenesisi197 – 1971H → T: Partial loss of catalytic activity. 1 Publication
Mutagenesisi252 – 2521H → A: Partial loss of catalytic activity. 1 Publication
Mutagenesisi307 – 3071H → A: Partial loss of catalytic activity. 1 Publication
Mutagenesisi353 – 3531H → A: Partial loss of catalytic activity. 1 Publication

Keywords - Diseasei

Disease mutation, Glycogen storage disease

Organism-specific databases

MIMi232200. phenotype.
Orphaneti79258. Glycogen storage disease due to glucose-6-phosphatase deficiency type a.
PharmGKBiPA28468.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 357357Glucose-6-phosphatasePRO_0000087413Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi96 – 961N-linked (GlcNAc...)2 Publications

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiP35575.
PRIDEiP35575.

PTM databases

PhosphoSiteiP35575.

Expressioni

Gene expression databases

BgeeiP35575.
CleanExiHS_G6PC.
ExpressionAtlasiP35575. baseline and differential.
GenevestigatoriP35575.

Organism-specific databases

HPAiHPA052324.

Interactioni

Protein-protein interaction databases

BioGridi108813. 3 interactions.
IntActiP35575. 3 interactions.
STRINGi9606.ENSP00000253801.

Structurei

3D structure databases

ProteinModelPortaliP35575.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2828LumenalSequence AnalysisAdd
BLAST
Topological domaini50 – 6011CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini82 – 11736LumenalSequence AnalysisAdd
BLAST
Topological domaini139 – 1479CytoplasmicSequence Analysis
Topological domaini169 – 17911LumenalSequence AnalysisAdd
BLAST
Topological domaini203 – 2097CytoplasmicSequence Analysis
Topological domaini231 – 25424LumenalSequence AnalysisAdd
BLAST
Topological domaini276 – 29116CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini313 – 3208LumenalSequence Analysis
Topological domaini342 – 35716CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei29 – 4921HelicalSequence AnalysisAdd
BLAST
Transmembranei61 – 8121HelicalSequence AnalysisAdd
BLAST
Transmembranei118 – 13821HelicalSequence AnalysisAdd
BLAST
Transmembranei148 – 16821HelicalSequence AnalysisAdd
BLAST
Transmembranei180 – 20223HelicalSequence AnalysisAdd
BLAST
Transmembranei210 – 23021HelicalSequence AnalysisAdd
BLAST
Transmembranei255 – 27521HelicalSequence AnalysisAdd
BLAST
Transmembranei292 – 31221HelicalSequence AnalysisAdd
BLAST
Transmembranei321 – 34121HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Belongs to the glucose-6-phosphatase family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG82628.
GeneTreeiENSGT00510000046465.
HOGENOMiHOG000264239.
HOVERGENiHBG003560.
InParanoidiP35575.
KOiK01084.
OMAiYLQVNYQ.
OrthoDBiEOG73NG4N.
PhylomeDBiP35575.
TreeFamiTF324388.

Family and domain databases

Gene3Di1.20.144.10. 1 hit.
InterProiIPR016275. Glucose-6-phosphatase.
IPR000326. P_Acid_Pase_2/haloperoxidase.
[Graphical view]
PfamiPF01569. PAP2. 1 hit.
[Graphical view]
PIRSFiPIRSF000905. Glucose-6-phosphatase. 1 hit.
SMARTiSM00014. acidPPc. 1 hit.
[Graphical view]
SUPFAMiSSF48317. SSF48317. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P35575) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:357
Mass (Da):40,484
Last modified:September 23, 2008 - v2
Checksum:i2FEA1C78928A9919
GO
Isoform 2 (identifier: P35575-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     115-175: SPSGHAMGTA...VCLSRIYLAA → KDKADLQISV...CRNFQPHPQH
     176-356: Missing.

Note: No experimental confirmation available.

Show »
Length:176
Mass (Da):20,209
Checksum:i9185BD4F9911B02D
GO

Sequence cautioni

The sequence BAG64735.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti109 – 1091C → R in BAG64735. (PubMed:14702039)Curated
Sequence conflicti192 – 1921A → T in AAA16222. (PubMed:8211187)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti5 – 51M → R in GSD1A. 1 Publication
VAR_046249
Natural varianti16 – 161T → A in GSD1A. 1 Publication
VAR_046250
Natural varianti16 – 161T → R in GSD1A; complete loss of activity and reduced enzyme stability. 1 Publication
VAR_046251
Natural varianti20 – 201Q → R in GSD1A. 2 Publications
VAR_009202
Natural varianti38 – 381D → V in GSD1A. 4 Publications
VAR_005237
Natural varianti54 – 541Q → P in GSD1A. 3 Publications
VAR_009203
Natural varianti63 – 631W → R in GSD1A. 1 Publication
VAR_046252
Natural varianti65 – 651A → P in GSD1A. 1 Publication
VAR_046253
Natural varianti68 – 681G → R in GSD1A. 2 Publications
VAR_046254
Natural varianti76 – 761K → N in GSD1A; loss of catalytic activity. 1 Publication
VAR_046255
Natural varianti77 – 771W → R in GSD1A. 3 Publications
VAR_005238
Natural varianti81 – 811G → R in GSD1A. 2 Publications
VAR_009204
Natural varianti83 – 831R → C in GSD1A; complete loss of activity; prevalent mutation in Ashkenazi Jewish population. 11 Publications
Corresponds to variant rs1801175 [ dbSNP | Ensembl ].
VAR_005239
Natural varianti83 – 831R → H in GSD1A. 3 Publications
Corresponds to variant rs1801176 [ dbSNP | Ensembl ].
VAR_005240
Natural varianti83 – 831R → I in GSD1A. 1 Publication
VAR_005241
Natural varianti108 – 1081T → I in GSD1A. 2 Publications
VAR_009205
Natural varianti110 – 1101E → K in GSD1A. 3 Publications
VAR_005242
Natural varianti111 – 1111T → I in GSD1A. 1 Publication
VAR_046256
Natural varianti113 – 1131P → L in GSD1A. 1 Publication
VAR_046257
Natural varianti116 – 1161P → L in a breast cancer sample; somatic mutation. 1 Publication
VAR_035922
Natural varianti119 – 1191H → L in GSD1A. 1 Publication
VAR_046258
Natural varianti122 – 1221G → D in GSD1A. 2 Publications
VAR_046259
Natural varianti124 – 1241A → T in GSD1A. 1 Publication
VAR_005243
Natural varianti156 – 1561W → L in GSD1A. 2 Publications
VAR_009206
Natural varianti166 – 1661V → A in GSD1A. 1 Publication
VAR_046260
Natural varianti166 – 1661V → G in GSD1A; complete loss of activity. 2 Publications
VAR_005244
Natural varianti170 – 1701R → Q in GSD1A; loss of catalytic activity. 2 Publications
VAR_046261
Natural varianti177 – 1771F → C in GSD1A. 1 Publication
VAR_046262
Natural varianti178 – 1781P → A in GSD1A. 1 Publication
VAR_065164
Natural varianti178 – 1781P → S in GSD1A. 1 Publication
VAR_046263
Natural varianti179 – 1791H → P in GSD1A. 1 Publication
VAR_046264
Natural varianti184 – 1841G → E in GSD1A. 2 Publications
VAR_005245
Natural varianti184 – 1841G → V in GSD1A. 1 Publication
VAR_046265
Natural varianti188 – 1881G → D in GSD1A. 1 Publication
VAR_009207
Natural varianti188 – 1881G → R in GSD1A; complete loss of activity. 5 Publications
VAR_005246
Natural varianti188 – 1881G → S in GSD1A. 1 Publication
VAR_046266
Natural varianti209 – 2091Y → C in GSD1A; complete loss of activity and reduced enzyme stability. 1 Publication
VAR_046268
Natural varianti211 – 2111L → P in GSD1A. 1 Publication
VAR_005247
Natural varianti222 – 2221G → R in GSD1A. 1 Publication
VAR_005248
Natural varianti236 – 2361W → R in GSD1A. 1 Publication
VAR_046269
Natural varianti241 – 2411A → T in GSD1A. 1 Publication
VAR_046270
Natural varianti255 – 2551T → I in GSD1A. 1 Publication
VAR_065165
Natural varianti257 – 2571P → L in GSD1A. 1 Publication
VAR_046271
Natural varianti264 – 2641N → K in GSD1A. 1 Publication
VAR_046272
Natural varianti265 – 2651L → P in GSD1A. 1 Publication
VAR_046273
Natural varianti266 – 2661G → V in GSD1A. 1 Publication
VAR_005249
Natural varianti270 – 2701G → R in GSD1A. 1 Publication
VAR_046274
Natural varianti270 – 2701G → V in GSD1A. 3 Publications
VAR_005250
Natural varianti270 – 2701G → W in GSD1A. 1 Publication
VAR_046275
Natural varianti295 – 2951R → C in GSD1A. 2 Publications
VAR_005251
Natural varianti298 – 2981S → P in GSD1A. 1 Publication
VAR_046276
Natural varianti322 – 3221F → L in GSD1A. 1 Publication
VAR_046277
Natural varianti327 – 3271Missing in GSD1A. 2 Publications
VAR_005252
Natural varianti338 – 3381V → F in GSD1A. 3 Publications
VAR_005253
Natural varianti341 – 3411I → N in GSD1A. 1 Publication
VAR_005254
Natural varianti345 – 3451L → R in GSD1A. 1 Publication
VAR_046278

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei115 – 17561SPSGH…IYLAA → KDKADLQISVLECHFVVGIL GCAAECLSVTNLPCCSFSSS SCCWSPVRHCCCRNFQPHPQ H in isoform 2. 1 PublicationVSP_047558Add
BLAST
Alternative sequencei176 – 356181Missing in isoform 2. 1 PublicationVSP_047559Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSiCCDS11446.1. [P35575-1]
CCDS59291.1. [P35575-2]
PIRiA48251.
RefSeqiNP_000142.2. NM_000151.3. [P35575-1]
NP_001257326.1. NM_001270397.1. [P35575-2]
UniGeneiHs.212293.
Hs.742566.

Genome annotation databases

EnsembliENST00000253801; ENSP00000253801; ENSG00000131482. [P35575-1]
ENST00000592383; ENSP00000465958; ENSG00000131482. [P35575-2]
GeneIDi2538.
KEGGihsa:2538.
UCSCiuc002icb.2. human. [P35575-1]

Polymorphism databases

DMDMi206729864.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 ]
UniGenei Hs.212293.
Hs.742566.

3D structure databases

ProteinModelPortali P35575.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108813. 3 interactions.
IntActi P35575. 3 interactions.
STRINGi 9606.ENSP00000253801.

Chemistry

BindingDBi P35575.
ChEMBLi CHEMBL2282.

PTM databases

PhosphoSitei P35575.

Polymorphism databases

DMDMi 206729864.

Proteomic databases

PaxDbi P35575.
PRIDEi P35575.

Protocols and materials databases

DNASUi 2538.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000253801 ; ENSP00000253801 ; ENSG00000131482 . [P35575-1 ]
ENST00000592383 ; ENSP00000465958 ; ENSG00000131482 . [P35575-2 ]
GeneIDi 2538.
KEGGi hsa:2538.
UCSCi uc002icb.2. human. [P35575-1 ]

Organism-specific databases

CTDi 2538.
GeneCardsi GC17P041052.
GeneReviewsi G6PC.
HGNCi HGNC:4056. G6PC.
HPAi HPA052324.
MIMi 232200. phenotype.
613742. gene.
neXtProti NX_P35575.
Orphaneti 79258. Glycogen storage disease due to glucose-6-phosphatase deficiency type a.
PharmGKBi PA28468.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG82628.
GeneTreei ENSGT00510000046465.
HOGENOMi HOG000264239.
HOVERGENi HBG003560.
InParanoidi P35575.
KOi K01084.
OMAi YLQVNYQ.
OrthoDBi EOG73NG4N.
PhylomeDBi P35575.
TreeFami TF324388.

Enzyme and pathway databases

UniPathwayi UPA00138 .
BioCyci MetaCyc:HS05538-MONOMER.
Reactomei REACT_212. Glucose transport.
SABIO-RK P35575.

Miscellaneous databases

ChiTaRSi G6PC. human.
GeneWikii G6PC.
GenomeRNAii 2538.
NextBioi 10017.
PROi P35575.
SOURCEi Search...

Gene expression databases

Bgeei P35575.
CleanExi HS_G6PC.
ExpressionAtlasi P35575. baseline and differential.
Genevestigatori P35575.

Family and domain databases

Gene3Di 1.20.144.10. 1 hit.
InterProi IPR016275. Glucose-6-phosphatase.
IPR000326. P_Acid_Pase_2/haloperoxidase.
[Graphical view ]
Pfami PF01569. PAP2. 1 hit.
[Graphical view ]
PIRSFi PIRSF000905. Glucose-6-phosphatase. 1 hit.
SMARTi SM00014. acidPPc. 1 hit.
[Graphical view ]
SUPFAMi SSF48317. SSF48317. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a."
    Lei K.-J., Shelly L.L., Pan C.-J., Sidbury J.B., Chou J.Y.
    Science 262:580-583(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Liver.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Liver.
  3. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  5. "Asparagine-linked oligosaccharides are localized to a luminal hydrophilic loop in human glucose-6-phosphatase."
    Pan C.J., Lei K.J., Chou J.Y.
    J. Biol. Chem. 273:21658-21662(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION AT ASN-96.
  6. "The catalytic center of glucose-6-phosphatase. HIS176 is the nucleophile forming the phosphohistidine-enzyme intermediate during catalysis."
    Ghosh A., Shieh J.-J., Pan C.-J., Sun M.-S., Chou J.Y.
    J. Biol. Chem. 277:32837-32842(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACTIVE SITES, MUTAGENESIS OF HIS-9; HIS-52; HIS-119; HIS-176; HIS-179; HIS-197; HIS-252; HIS-307 AND HIS-353, CHARACTERIZATION OF VARIANTS ASN-76; CYS-83 AND GLN-170.
  7. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
    Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
    J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-96.
    Tissue: Liver.
  8. "Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a."
    Lei K.J., Pan C.J., Shelly L.L., Liu J.L., Chou J.Y.
    J. Clin. Invest. 93:1994-1999(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GSD1A CYS-83.
  9. "Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus."
    Lei K.-J., Chen Y.-T., Chen H., Wong L.-J.C., Liu J.-L., McConkie-Rosell A., van Hove J.L.K., Ou H.C.-Y., Yeh N.J., Pan L.Y., Chou J.Y.
    Am. J. Hum. Genet. 57:766-771(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GSD1A.
  10. "Characterization 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."
    Parvari R., Moses S., Hershkovitz E., Carmi R., Bashan N.
    J. Inherit. Metab. Dis. 18:21-27(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GSD1A CYS-83 AND GLY-166.
  11. "Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia."
    Hwu W.-L., Chuang S.-C., Tsai L.-P., Chang M.-H., Chuang S.-M., Wang T.-R.
    Hum. Mol. Genet. 4:1095-1096(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GSD1A ILE-83.
  12. "Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family."
    Lee W.J., Lee H.M., Chi C.S., Shu S.G., Lin L.Y., Lin W.H.
    Clin. Genet. 50:206-211(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GSD1A HIS-83 AND ASN-341.
  13. "Mutation analysis in 24 French patients with glycogen storage disease type 1a."
    Chevalier-Porst F., Bozon D., Bonardot A.-M., Bruni N., Mithieux G., Mathieu M., Maire I.
    J. Med. Genet. 33:358-360(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GSD1A VAL-38; ARG-77; LYS-110; THR-124; GLU-184; ARG-188 AND PRO-211.
  14. "Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies."
    Parvari R., Lei K.J., Bashan N., Hershkovitz E., Korman S.H., Barash V., Lerman-Sagie T., Mandel H., Chou J.Y., Moses S.W.
    Am. J. Med. Genet. 72:286-290(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GSD1A CYS-83 AND GLY-166.
  15. "Molecular aspects of glycogen storage disease type Ia in Turkish patients: a novel mutation in the glucose-6-phosphatase gene."
    Huener G., Podskarbi T., Schuetz M., Baykal T., Sarbat G., Shin Y.S., Demirkol M.
    J. Inherit. Metab. Dis. 21:445-446(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GSD1A CYS-83; GLN-170 AND TRP-270.
  16. "A novel mutation in a Brazilian patient with glycogen storage disease type 1a."
    Sartorato E.L., Reis F.C., Norato D.Y.J., Hackel C.
    J. Inherit. Metab. Dis. 21:447-447(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GSD1A ARG-68.
  17. "A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a."
    Keller K.M., Schuetz M., Podskarbi T., Bindl L., Lentze M.J., Shin Y.S.
    J. Pediatr. 132:360-361(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GSD1A CYS-83 AND LYS-264.
  18. "Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified."
    Rake J.P., ten Berge A.M., Verlind E., Visser G., Niezen-Koning K.E., Buys C.H.C.M., Smit G.P., Scheffer H.
    Hum. Mutat. 13:173-173(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GSD1A VAL-266 AND PHE-338.
  19. "Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia."
    Trioche P., Francoual J., Chalas J., Capel L., Bernard O., Labrune P.
    Hum. Mutat. 14:91-91(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GSD1A PRO-54 AND ILE-108.
  20. "Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia."
    Stroppiano M., Regis S., DiRocco M., Caroli F., Gandullia P., Gatti R.
    J. Inherit. Metab. Dis. 22:43-49(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GSD1A VAL-38; ARG-63; CYS-83; VAL-184; ARG-222; VAL-270; CYS-295; PRO-298 AND PHE-338.
  21. "Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells."
    Akanuma J., Nishigaki T., Fujii K., Matsubara Y., Inui K., Takahashi K., Kure S., Suzuki Y., Ohura T., Miyabayashi S., Ogawa E., Iinuma K., Okada S., Narisawa K.
    Am. J. Med. Genet. 91:107-112(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GSD1A HIS-83; ASP-122; PRO-179 AND LEU-257.
  22. "Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations."
    Seydewitz H.H., Matern D.
    Hum. Mutat. 15:115-116(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GSD1A ARG-20; ARG-81; LEU-156 AND ASP-188.
  23. "Identification 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)."
    Wu M.-C., Tsai F.-J., Lee C.-C., Lin S.-P., Wu J.-Y.
    Hum. Mutat. 15:390-390(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GSD1A ALA-16.
  24. "Identification 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."
    Kozak L., Francova H., Hrabincova E., Stastna S., Peskova K., Elleder M.
    Hum. Mutat. 16:89-89(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GSD1A ASN-76; ARG-77; CYS-83; ALA-166; ARG-188 AND CYS-295.
  25. "Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients."
    Trioche P., Francoual J., Chalas J., Capel L., Lindenbaum A., Odievre M., Labrune P.
    Hum. Mutat. 16:444-444(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: 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-338.
  26. "A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (von Gierke disease)."
    Wu M.-C., Tsai F.-J., Lee C.-C., Tsai C.-H., Wu J.-Y.
    Hum. Mutat. 16:447-447(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GSD1A LEU-119.
  27. "Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype."
    Weston B.W., Lin J.L., Muenzer J., Cameron H.S., Arnold R.R., Seydewitz H.H., Mayatepek E., Van Schaftingen E., Veiga-da-Cunha M., Matern D., Chen Y.T.
    Pediatr. Res. 48:329-334(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GSD1A ARG-188.
  28. "Glycogen storage disease type I: diagnosis and phenotype/genotype correlation."
    Matern D., Seydewitz H.H., Bali D., Lang C., Chen Y.-T.
    Eur. J. Pediatr. 161:S10-S19(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: 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-345.
  29. "Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population."
    Ekstein J., Rubin B.Y., Anderson S.L., Weinstein D.A., Bach G., Abeliovich D., Webb M., Risch N.
    Am. J. Med. Genet. A 129:162-164(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GSD1A CYS-83.
  30. "Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia."
    Ki C.S., Han S.H., Kim H.J., Lee S.G., Kim E.J., Kim J.W., Choe Y.H., Seo J.K., Chang Y.J., Park J.Y.
    Clin. Genet. 65:487-489(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GSD1A ASP-122; ALA-178 AND ILE-255.
  31. "Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability."
    Angaroni C.J., de Kremer R.D., Argarana C.E., Paschini-Capra A.E., Giner-Ayala A.N., Pezza R.J., Pan C.-J., Chou J.Y.
    Mol. Genet. Metab. 83:276-279(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GSD1A ARG-16; PRO-54; CYS-83 AND CYS-209, CHARACTERIZATION OF VARIANTS GSD1A ARG-16 AND CYS-209.
  32. Cited for: VARIANT [LARGE SCALE ANALYSIS] LEU-116.

Entry informationi

Entry nameiG6PC_HUMAN
AccessioniPrimary (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: October 29, 2014
This is version 143 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

External Data

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