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P54840

- GYS2_HUMAN

UniProt

P54840 - GYS2_HUMAN

Protein

Glycogen [starch] synthase, liver

Gene

GYS2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 2 (09 Feb 2010)
      Previous versions | rss
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    Functioni

    Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan.

    Catalytic activityi

    UDP-alpha-D-glucose + ((1->4)-alpha-D-glucosyl)(n) = UDP + ((1->4)-alpha-D-glucosyl)(n+1).

    Enzyme regulationi

    Allosteric activation by glucose-6-phosphate. Phosphorylation reduces the activity towards UDP-glucose. When in the non-phosphorylated state, glycogen synthase does not require glucose-6-phosphate as an allosteric activator; when phosphorylated it does By similarity.By similarity

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei40 – 401UDP-glucoseBy similarity

    GO - Molecular functioni

    1. glycogen (starch) synthase activity Source: UniProtKB
    2. glycogen synthase activity, transferring glucose-1-phosphate Source: Reactome
    3. protein homodimerization activity Source: UniProtKB

    GO - Biological processi

    1. carbohydrate metabolic process Source: Reactome
    2. generation of precursor metabolites and energy Source: ProtInc
    3. glucose metabolic process Source: Reactome
    4. glycogen biosynthetic process Source: UniProtKB
    5. response to glucose Source: UniProtKB
    6. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Keywords - Biological processi

    Glycogen biosynthesis

    Enzyme and pathway databases

    ReactomeiREACT_169208. Glycogen synthesis.
    REACT_200783. Myoclonic epilepsy of Lafora.
    UniPathwayiUPA00164.

    Protein family/group databases

    CAZyiGT3. Glycosyltransferase Family 3.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Glycogen [starch] synthase, liver (EC:2.4.1.11)
    Gene namesi
    Name:GYS2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:4707. GYS2.

    Subcellular locationi

    GO - Cellular componenti

    1. cell cortex Source: UniProtKB
    2. cortical actin cytoskeleton Source: UniProtKB
    3. cytoplasm Source: UniProtKB
    4. cytoskeleton Source: UniProtKB
    5. cytosol Source: UniProtKB
    6. ectoplasm Source: UniProtKB

    Pathology & Biotechi

    Involvement in diseasei

    Glycogen storage disease 0 (GSD0) [MIM:240600]: A metabolic disorder characterized by fasting hypoglycemia presenting in infancy or early childhood, high blood ketones and low alanine and lactate concentrations. Although feeding relieves symptoms, it often results in postprandial hyperglycemia and hyperlactatemia.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti39 – 391N → S in GSD0. 1 Publication
    VAR_007860
    Natural varianti339 – 3391A → P in GSD0. 1 Publication
    VAR_007861
    Natural varianti446 – 4461H → D in GSD0. 1 Publication
    VAR_007862
    Natural varianti479 – 4791P → Q in GSD0. 1 Publication
    VAR_007863
    Natural varianti483 – 4831S → P in GSD0. 1 Publication
    VAR_007864
    Natural varianti491 – 4911M → R in GSD0. 1 Publication
    VAR_007865

    Keywords - Diseasei

    Disease mutation, Glycogen storage disease

    Organism-specific databases

    MIMi240600. phenotype.
    Orphaneti2089. Glycogen storage disease due to hepatic glycogen synthase deficiency.
    PharmGKBiPA29085.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 703703Glycogen [starch] synthase, liverPRO_0000194768Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei8 – 81Phosphoserine; by PKABy similarity
    Modified residuei641 – 6411Phosphoserine; by GSK3-alpha and GSK3-betaBy similarity
    Modified residuei645 – 6451Phosphoserine; by GSK3-alpha and GSK3-betaBy similarity
    Modified residuei649 – 6491Phosphoserine; by GSK3-alpha and GSK3-betaBy similarity
    Modified residuei653 – 6531Phosphoserine; by GSK3-alpha and GSK3-betaBy similarity
    Modified residuei657 – 6571Phosphoserine; by CK2By similarity
    Modified residuei683 – 6831PhosphoserineBy similarity

    Post-translational modificationi

    Primed phosphorylation at Ser-657 (site 5) by CSNK2A1 and CSNK2A2 is required for inhibitory phosphorylation at Ser-641 (site 3a), Ser-645 (site 3b), Ser-649 (site 3c) and Ser-653 (site 4) by GSK3A an GSK3B. Dephosphorylation at Ser-641 and Ser-645 by PP1 activates the enzyme By similarity.By similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiP54840.
    PaxDbiP54840.
    PRIDEiP54840.

    PTM databases

    PhosphoSiteiP54840.

    Expressioni

    Gene expression databases

    BgeeiP54840.
    CleanExiHS_GYS2.
    GenevestigatoriP54840.

    Organism-specific databases

    HPAiHPA039482.

    Interactioni

    Protein-protein interaction databases

    BioGridi109253. 3 interactions.
    IntActiP54840. 3 interactions.
    STRINGi9606.ENSP00000261195.

    Structurei

    3D structure databases

    ProteinModelPortaliP54840.
    SMRiP54840. Positions 29-621.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the glycosyltransferase 3 family.Curated

    Phylogenomic databases

    eggNOGiCOG0438.
    HOGENOMiHOG000160890.
    HOVERGENiHBG001960.
    InParanoidiP54840.
    KOiK00693.
    OMAiEVSWEVT.
    OrthoDBiEOG741Z1N.
    PhylomeDBiP54840.
    TreeFamiTF300306.

    Family and domain databases

    InterProiIPR008631. Glycogen_synth.
    [Graphical view]
    PANTHERiPTHR10176. PTHR10176. 1 hit.
    PfamiPF05693. Glycogen_syn. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P54840-1 [UniParc]FASTAAdd to Basket

    « Hide

    MLRGRSLSVT SLGGLPQWEV EELPVEELLL FEVAWEVTNK VGGIYTVIQT    50
    KAKTTADEWG ENYFLIGPYF EHNMKTQVEQ CEPVNDAVRR AVDAMNKHGC 100
    QVHFGRWLIE GSPYVVLFDI GYSAWNLDRW KGDLWEACSV GIPYHDREAN 150
    DMLIFGSLTA WFLKEVTDHA DGKYVVAQFH EWQAGIGLIL SRARKLPIAT 200
    IFTTHATLLG RYLCAANIDF YNHLDKFNID KEAGERQIYH RYCMERASVH 250
    CAHVFTTVSE ITAIEAEHML KRKPDVVTPN GLNVKKFSAV HEFQNLHAMY 300
    KARIQDFVRG HFYGHLDFDL EKTLFLFIAG RYEFSNKGAD IFLESLSRLN 350
    FLLRMHKSDI TVMVFFIMPA KTNNFNVETL KGQAVRKQLW DVAHSVKEKF 400
    GKKLYDALLR GEIPDLNDIL DRDDLTIMKR AIFSTQRQSL PPVTTHNMID 450
    DSTDPILSTI RRIGLFNNRT DRVKVILHPE FLSSTSPLLP MDYEEFVRGC 500
    HLGVFPSYYE PWGYTPAECT VMGIPSVTTN LSGFGCFMQE HVADPTAYGI 550
    YIVDRRFRSP DDSCNQLTKF LYGFCKQSRR QRIIQRNRTE RLSDLLDWRY 600
    LGRYYQHARH LTLSRAFPDK FHVELTSPPT TEGFKYPRPS SVPPSPSGSQ 650
    ASSPQSSDVE DEVEDERYDE EEEAERDRLN IKSPFSLSHV PHGKKKLHGE 700
    YKN 703
    Length:703
    Mass (Da):80,989
    Last modified:February 9, 2010 - v2
    Checksum:i718F000D6D00CA4A
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti97 – 971K → M in BAA06154. 1 PublicationCurated
    Sequence conflicti178 – 1781Q → R in BAA06154. 1 PublicationCurated
    Sequence conflicti186 – 1861I → V in BAA06154. 1 PublicationCurated
    Sequence conflicti335 – 3362SN → FKT in BAA06154. 1 PublicationCurated
    Sequence conflicti344 – 3441E → D in BAA06154. 1 PublicationCurated
    Sequence conflicti441 – 4411P → A in BAA06154. 1 PublicationCurated
    Sequence conflicti576 – 5772KQ → NM in BAA06154. 1 PublicationCurated
    Sequence conflicti583 – 5831I → F in BAA06154. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti39 – 391N → S in GSD0. 1 Publication
    VAR_007860
    Natural varianti193 – 1931A → T.
    Corresponds to variant rs16924038 [ dbSNP | Ensembl ].
    VAR_055885
    Natural varianti339 – 3391A → P in GSD0. 1 Publication
    VAR_007861
    Natural varianti363 – 3631M → V.4 Publications
    Corresponds to variant rs2306180 [ dbSNP | Ensembl ].
    VAR_058848
    Natural varianti415 – 4151D → E.
    Corresponds to variant rs16924002 [ dbSNP | Ensembl ].
    VAR_055886
    Natural varianti446 – 4461H → D in GSD0. 1 Publication
    VAR_007862
    Natural varianti479 – 4791P → Q in GSD0. 1 Publication
    VAR_007863
    Natural varianti483 – 4831S → P in GSD0. 1 Publication
    VAR_007864
    Natural varianti491 – 4911M → R in GSD0. 1 Publication
    VAR_007865

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    S70004 mRNA. Translation: AAB30886.1.
    AJ003087
    , AJ003088, AJ003089, AJ003090, AJ003091, AJ003092, AJ003093, AJ003094, AJ003095, AJ003096, AJ003097, AJ003098, AJ003099, AJ003100, AJ003101, AJ003102 Genomic DNA. Translation: CAA05859.1.
    D29685 mRNA. Translation: BAA06154.1.
    AC006559 Genomic DNA. No translation available.
    AC010197 Genomic DNA. No translation available.
    AC022072 Genomic DNA. No translation available.
    BC126310 mRNA. Translation: AAI26311.1.
    BC126312 mRNA. Translation: AAI26313.1.
    CCDSiCCDS8690.1.
    PIRiS45686.
    RefSeqiNP_068776.2. NM_021957.3.
    XP_005253409.1. XM_005253352.1.
    XP_006719125.1. XM_006719062.1.
    UniGeneiHs.82614.

    Genome annotation databases

    EnsembliENST00000261195; ENSP00000261195; ENSG00000111713.
    GeneIDi2998.
    KEGGihsa:2998.
    UCSCiuc001rfb.3. human.

    Polymorphism databases

    DMDMi288558811.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    S70004 mRNA. Translation: AAB30886.1 .
    AJ003087
    , AJ003088 , AJ003089 , AJ003090 , AJ003091 , AJ003092 , AJ003093 , AJ003094 , AJ003095 , AJ003096 , AJ003097 , AJ003098 , AJ003099 , AJ003100 , AJ003101 , AJ003102 Genomic DNA. Translation: CAA05859.1 .
    D29685 mRNA. Translation: BAA06154.1 .
    AC006559 Genomic DNA. No translation available.
    AC010197 Genomic DNA. No translation available.
    AC022072 Genomic DNA. No translation available.
    BC126310 mRNA. Translation: AAI26311.1 .
    BC126312 mRNA. Translation: AAI26313.1 .
    CCDSi CCDS8690.1.
    PIRi S45686.
    RefSeqi NP_068776.2. NM_021957.3.
    XP_005253409.1. XM_005253352.1.
    XP_006719125.1. XM_006719062.1.
    UniGenei Hs.82614.

    3D structure databases

    ProteinModelPortali P54840.
    SMRi P54840. Positions 29-621.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109253. 3 interactions.
    IntActi P54840. 3 interactions.
    STRINGi 9606.ENSP00000261195.

    Protein family/group databases

    CAZyi GT3. Glycosyltransferase Family 3.

    PTM databases

    PhosphoSitei P54840.

    Polymorphism databases

    DMDMi 288558811.

    Proteomic databases

    MaxQBi P54840.
    PaxDbi P54840.
    PRIDEi P54840.

    Protocols and materials databases

    DNASUi 2998.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000261195 ; ENSP00000261195 ; ENSG00000111713 .
    GeneIDi 2998.
    KEGGi hsa:2998.
    UCSCi uc001rfb.3. human.

    Organism-specific databases

    CTDi 2998.
    GeneCardsi GC12M021689.
    H-InvDB HIX0036868.
    HGNCi HGNC:4707. GYS2.
    HPAi HPA039482.
    MIMi 138571. gene.
    240600. phenotype.
    neXtProti NX_P54840.
    Orphaneti 2089. Glycogen storage disease due to hepatic glycogen synthase deficiency.
    PharmGKBi PA29085.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0438.
    HOGENOMi HOG000160890.
    HOVERGENi HBG001960.
    InParanoidi P54840.
    KOi K00693.
    OMAi EVSWEVT.
    OrthoDBi EOG741Z1N.
    PhylomeDBi P54840.
    TreeFami TF300306.

    Enzyme and pathway databases

    UniPathwayi UPA00164 .
    Reactomei REACT_169208. Glycogen synthesis.
    REACT_200783. Myoclonic epilepsy of Lafora.

    Miscellaneous databases

    ChiTaRSi GYS2. human.
    GenomeRNAii 2998.
    NextBioi 11888.
    PROi P54840.
    SOURCEi Search...

    Gene expression databases

    Bgeei P54840.
    CleanExi HS_GYS2.
    Genevestigatori P54840.

    Family and domain databases

    InterProi IPR008631. Glycogen_synth.
    [Graphical view ]
    PANTHERi PTHR10176. PTHR10176. 1 hit.
    Pfami PF05693. Glycogen_syn. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Primary structure of human liver glycogen synthase deduced by cDNA cloning."
      Nuttall F.Q., Gannon M.C., Bai G., Lee E.Y.
      Arch. Biochem. Biophys. 311:443-449(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT VAL-363.
      Tissue: Liver.
    2. "Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0."
      Orho M., Bosshard N.U., Buist N.R.M., Gitzelmann R., Aynsley-Green A., Blumel P., Gannon M.C., Nuttall F.Q., Groop L.C.
      J. Clin. Invest. 102:507-515(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GSD0 SER-39; PRO-339; VAL-363; ASP-446; GLN-479; PRO-483 AND ARG-491.
    3. "Human liver glycogen synthase cDNA."
      Nakabayashi H., Nakayama T.
      Submitted (JUL-1994) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT VAL-363.
      Tissue: Liver.
    4. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
      , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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], VARIANT VAL-363.

    Entry informationi

    Entry nameiGYS2_HUMAN
    AccessioniPrimary (citable) accession number: P54840
    Secondary accession number(s): A0AVD8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: February 9, 2010
    Last modified: October 1, 2014
    This is version 131 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

    Allosteric enzyme, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: 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