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P35575

- G6PC_HUMAN

UniProt

P35575 - G6PC_HUMAN

Protein

Glucose-6-phosphatase

Gene

G6PC

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 142 (01 Oct 2014)
      Sequence version 2 (23 Sep 2008)
      Previous versions | rss
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    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

    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

    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

    ArrayExpressiP35575.
    BgeeiP35575.
    CleanExiHS_G6PC.
    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.
    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: P35575-1) [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

    MEEGMNVLHD FGIQSTHYLQ VNYQDSQDWF ILVSVIADLR NAFYVLFPIW    50
    FHLQEAVGIK LLWVAVIGDW LNLVFKWILF GQRPYWWVLD TDYYSNTSVP 100
    LIKQFPVTCE TGPGSPSGHA MGTAGVYYVM VTSTLSIFQG KIKPTYRFRC 150
    LNVILWLGFW AVQLNVCLSR IYLAAHFPHQ VVAGVLSGIA VAETFSHIHS 200
    IYNASLKKYF LITFFLFSFA IGFYLLLKGL GVDLLWTLEK AQRWCEQPEW 250
    VHIDTTPFAS LLKNLGTLFG LGLALNSSMY RESCKGKLSK WLPFRLSSIV 300
    ASLVLLHVFD SLKPPSQVEL VFYVLSFCKS AVVPLASVSV IPYCLAQVLG 350
    QPHKKSL 357
    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.
    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

    ArrayExpressi P35575.
    Bgeei P35575.
    CleanExi HS_G6PC.
    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

    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 1, 2014
    This is version 142 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

    Dasty 3