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O15488

- GLYG2_HUMAN

UniProt

O15488 - GLYG2_HUMAN

Protein

Glycogenin-2

Gene

GYG2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 142 (01 Oct 2014)
      Sequence version 2 (20 Mar 2007)
      Previous versions | rss
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    Functioni

    Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase.

    Catalytic activityi

    UDP-alpha-D-glucose + glycogenin = UDP + alpha-D-glucosylglycogenin.

    Cofactori

    Divalent metal ions. Required for self-glucosylation. Manganese is the most effective.

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei119 – 1191By similarity

    GO - Molecular functioni

    1. glycogenin glucosyltransferase activity Source: Reactome

    GO - Biological processi

    1. carbohydrate metabolic process Source: Reactome
    2. glucose metabolic process Source: Reactome
    3. glycogen biosynthetic process Source: Reactome
    4. glycogen catabolic process Source: Reactome
    5. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Transferase

    Keywords - Biological processi

    Glycogen biosynthesis

    Enzyme and pathway databases

    BioCyciMetaCyc:HS00703-MONOMER.
    ReactomeiREACT_1008. Glycogen breakdown (glycogenolysis).
    REACT_169208. Glycogen synthesis.
    REACT_200783. Myoclonic epilepsy of Lafora.
    UniPathwayiUPA00164.

    Protein family/group databases

    CAZyiGT8. Glycosyltransferase Family 8.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Glycogenin-2 (EC:2.4.1.186)
    Short name:
    GN-2
    Short name:
    GN2
    Gene namesi
    Name:GYG2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:4700. GYG2.

    Subcellular locationi

    GO - Cellular componenti

    1. cytosol Source: Reactome

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi228 – 2281Y → F: Loss of activity.
    Mutagenesisi230 – 2301Y → F: No loss of activity.

    Organism-specific databases

    PharmGKBiPA29078.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 501501Glycogenin-2PRO_0000215180Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi228 – 2281O-linked (Glc...)1 Publication

    Post-translational modificationi

    Self-glycosylated by the transfer of glucose residues from UDP-glucose to itself, forming an alpha-1,4-glycan of around 10 residues attached to Tyr-228.1 Publication

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiO15488.
    PaxDbiO15488.
    PRIDEiO15488.

    PTM databases

    PhosphoSiteiO15488.

    Expressioni

    Tissue specificityi

    Expressed preferentially in liver, heart, and pancreas.

    Gene expression databases

    ArrayExpressiO15488.
    BgeeiO15488.
    CleanExiHS_GYG2.
    GenevestigatoriO15488.

    Organism-specific databases

    HPAiHPA005495.

    Interactioni

    Subunit structurei

    Homodimer, tightly complexed to glycogen synthase.

    Protein-protein interaction databases

    BioGridi114422. 6 interactions.
    IntActiO15488. 3 interactions.
    MINTiMINT-5003813.
    STRINGi9606.ENSP00000370555.

    Structurei

    3D structure databases

    ProteinModelPortaliO15488.
    SMRiO15488. Positions 33-296.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiCOG5597.
    HOGENOMiHOG000008282.
    HOVERGENiHBG000681.
    KOiK00750.
    OMAiNTAYTYS.
    OrthoDBiEOG7BKCV8.
    PhylomeDBiO15488.
    TreeFamiTF312839.

    Family and domain databases

    Gene3Di3.90.550.10. 1 hit.
    InterProiIPR002495. Glyco_trans_8.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view]
    PfamiPF01501. Glyco_transf_8. 1 hit.
    [Graphical view]
    SUPFAMiSSF53448. SSF53448. 1 hit.

    Sequences (6)i

    Sequence statusi: Complete.

    This entry describes 6 isoformsi produced by alternative splicing. Align

    Note: Additional isoforms seem to exist.

    Isoform Alpha (identifier: O15488-1) [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

    MSETEFHHGA QAGLELLRSS NSPTSASQSA GMTVTDQAFV TLATNDIYCQ    50
    GALVLGQSLR RHRLTRKLVV LITPQVSSLL RVILSKVFDE VIEVNLIDSA 100
    DYIHLAFLKR PELGLTLTKL HCWTLTHYSK CVFLDADTLV LSNVDELFDR 150
    GEFSAAPDPG WPDCFNSGVF VFQPSLHTHK LLLQHAMEHG SFDGADQGLL 200
    NSFFRNWSTT DIHKHLPFIY NLSSNTMYTY SPAFKQFGSS AKVVHFLGSM 250
    KPWNYKYNPQ SGSVLEQGSA SSSQHQAAFL HLWWTVYQNN VLPLYKSVQA 300
    GEARASPGHT LCHSDVGGPC ADSASGVGEP CENSTPSAGV PCANSPLGSN 350
    QPAQGLPEPT QIVDETLSLP EGRRSEDMIA CPETETPAVI TCDPLSQPSP 400
    QPADFTETET ILQPANKVES VSSEETFEPS QELPAEALRD PSLQDALEVD 450
    LAVSVSQISI EEKVKELSPE EERRKWEEGR IDYMGKDAFA RIQEKLDRFL 500
    Q 501
    Length:501
    Mass (Da):55,184
    Last modified:March 20, 2007 - v2
    Checksum:i8488A09D6E564693
    GO
    Isoform Beta (identifier: O15488-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         3-33: Missing.

    Show »
    Length:470
    Mass (Da):51,999
    Checksum:iB846651872D5D26E
    GO
    Isoform Gamma (identifier: O15488-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         3-42: Missing.

    Show »
    Length:461
    Mass (Da):51,024
    Checksum:iA04519016F2221BB
    GO
    Isoform Delta (identifier: O15488-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         378-448: Missing.

    Show »
    Length:430
    Mass (Da):47,530
    Checksum:i940F41982ACB1650
    GO
    Isoform Epsilon (identifier: O15488-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         407-501: Missing.

    Show »
    Length:406
    Mass (Da):44,295
    Checksum:i6370F23C7DC32423
    GO
    Isoform Zeta (identifier: O15488-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         413-448: Missing.

    Show »
    Length:465
    Mass (Da):51,260
    Checksum:iAB2B130A1FD5EA73
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti413 – 4131Missing in AAB84378. (PubMed:9346895)Curated
    Sequence conflicti462 – 4643EKV → AGI in AAB84376. (PubMed:9346895)Curated

    Mass spectrometryi

    Molecular mass is 55211.89 Da from positions 1 - 501. Determined by MALDI. 1 Publication

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti7 – 71H → Y.
    Corresponds to variant rs11797037 [ dbSNP | Ensembl ].
    VAR_053110
    Natural varianti194 – 1941G → R Found in a renal cell carcinoma case; somatic mutation. 1 Publication
    VAR_064717
    Natural varianti270 – 2701A → V.
    Corresponds to variant rs2306734 [ dbSNP | Ensembl ].
    VAR_010401
    Natural varianti313 – 3131H → R.1 Publication
    Corresponds to variant rs2306735 [ dbSNP | Ensembl ].
    VAR_024457
    Natural varianti373 – 3731R → C.
    Corresponds to variant rs17330993 [ dbSNP | Ensembl ].
    VAR_031224

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei3 – 4240Missing in isoform Gamma. CuratedVSP_001771Add
    BLAST
    Alternative sequencei3 – 3331Missing in isoform Beta. 1 PublicationVSP_001770Add
    BLAST
    Alternative sequencei378 – 44871Missing in isoform Delta. CuratedVSP_001772Add
    BLAST
    Alternative sequencei407 – 50195Missing in isoform Epsilon. CuratedVSP_001773Add
    BLAST
    Alternative sequencei413 – 44836Missing in isoform Zeta. CuratedVSP_001774Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U94362 mRNA. Translation: AAB84377.1.
    U94363 mRNA. Translation: AAB84378.1.
    U94364 mRNA. Translation: AAB84379.1.
    U94357 mRNA. Translation: AAB84373.1.
    U94358 mRNA. Translation: AAB84374.1.
    U94360 mRNA. Translation: AAB84375.1.
    U94361 mRNA. Translation: AAB84376.1.
    AF179624
    , AF179615, AF179616, AF179617, AF179618, AF179619, AF179620, AF179621, AF179622, AF179623 Genomic DNA. Translation: AAF61855.1.
    AC138085 Genomic DNA. No translation available.
    BC023152 mRNA. Translation: AAH23152.1.
    CCDSiCCDS14121.1. [O15488-1]
    CCDS48074.1. [O15488-2]
    CCDS55365.1. [O15488-4]
    RefSeqiNP_001073324.1. NM_001079855.1. [O15488-2]
    NP_001171631.1. NM_001184702.1.
    NP_001171632.1. NM_001184703.1. [O15488-4]
    NP_001171633.1. NM_001184704.1.
    NP_003909.2. NM_003918.2. [O15488-1]
    UniGeneiHs.567381.
    Hs.701629.

    Genome annotation databases

    EnsembliENST00000381163; ENSP00000370555; ENSG00000056998. [O15488-1]
    ENST00000398806; ENSP00000381786; ENSG00000056998. [O15488-2]
    GeneIDi8908.
    KEGGihsa:8908.
    UCSCiuc004cqs.1. human. [O15488-1]
    uc004cqt.1. human. [O15488-2]
    uc004cqv.1. human. [O15488-4]
    uc004cqw.1. human. [O15488-3]
    uc010ndc.1. human. [O15488-6]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U94362 mRNA. Translation: AAB84377.1 .
    U94363 mRNA. Translation: AAB84378.1 .
    U94364 mRNA. Translation: AAB84379.1 .
    U94357 mRNA. Translation: AAB84373.1 .
    U94358 mRNA. Translation: AAB84374.1 .
    U94360 mRNA. Translation: AAB84375.1 .
    U94361 mRNA. Translation: AAB84376.1 .
    AF179624
    , AF179615 , AF179616 , AF179617 , AF179618 , AF179619 , AF179620 , AF179621 , AF179622 , AF179623 Genomic DNA. Translation: AAF61855.1 .
    AC138085 Genomic DNA. No translation available.
    BC023152 mRNA. Translation: AAH23152.1 .
    CCDSi CCDS14121.1. [O15488-1 ]
    CCDS48074.1. [O15488-2 ]
    CCDS55365.1. [O15488-4 ]
    RefSeqi NP_001073324.1. NM_001079855.1. [O15488-2 ]
    NP_001171631.1. NM_001184702.1.
    NP_001171632.1. NM_001184703.1. [O15488-4 ]
    NP_001171633.1. NM_001184704.1.
    NP_003909.2. NM_003918.2. [O15488-1 ]
    UniGenei Hs.567381.
    Hs.701629.

    3D structure databases

    ProteinModelPortali O15488.
    SMRi O15488. Positions 33-296.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114422. 6 interactions.
    IntActi O15488. 3 interactions.
    MINTi MINT-5003813.
    STRINGi 9606.ENSP00000370555.

    Protein family/group databases

    CAZyi GT8. Glycosyltransferase Family 8.

    PTM databases

    PhosphoSitei O15488.

    Proteomic databases

    MaxQBi O15488.
    PaxDbi O15488.
    PRIDEi O15488.

    Protocols and materials databases

    DNASUi 8908.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000381163 ; ENSP00000370555 ; ENSG00000056998 . [O15488-1 ]
    ENST00000398806 ; ENSP00000381786 ; ENSG00000056998 . [O15488-2 ]
    GeneIDi 8908.
    KEGGi hsa:8908.
    UCSCi uc004cqs.1. human. [O15488-1 ]
    uc004cqt.1. human. [O15488-2 ]
    uc004cqv.1. human. [O15488-4 ]
    uc004cqw.1. human. [O15488-3 ]
    uc010ndc.1. human. [O15488-6 ]

    Organism-specific databases

    CTDi 8908.
    GeneCardsi GC0XP002740.
    H-InvDB HIX0016632.
    HIX0025849.
    HGNCi HGNC:4700. GYG2.
    HPAi HPA005495.
    MIMi 300198. gene.
    neXtProti NX_O15488.
    PharmGKBi PA29078.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5597.
    HOGENOMi HOG000008282.
    HOVERGENi HBG000681.
    KOi K00750.
    OMAi NTAYTYS.
    OrthoDBi EOG7BKCV8.
    PhylomeDBi O15488.
    TreeFami TF312839.

    Enzyme and pathway databases

    UniPathwayi UPA00164 .
    BioCyci MetaCyc:HS00703-MONOMER.
    Reactomei REACT_1008. Glycogen breakdown (glycogenolysis).
    REACT_169208. Glycogen synthesis.
    REACT_200783. Myoclonic epilepsy of Lafora.

    Miscellaneous databases

    GenomeRNAii 8908.
    NextBioi 33471.
    PROi O15488.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O15488.
    Bgeei O15488.
    CleanExi HS_GYG2.
    Genevestigatori O15488.

    Family and domain databases

    Gene3Di 3.90.550.10. 1 hit.
    InterProi IPR002495. Glyco_trans_8.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view ]
    Pfami PF01501. Glyco_transf_8. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53448. SSF53448. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Glycogenin-2, a novel self-glucosylating protein involved in liver glycogen biosynthesis."
      Mu J., Skurat A.V., Roach P.J.
      J. Biol. Chem. 272:27589-27597(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING.
      Tissue: Liver.
    2. "Structure and chromosomal localization of the human glycogenin-2 gene GYG2."
      Zhai L., Mu J., Zong H., DePaoli-Roach A.A., Roach P.J.
      Gene 242:229-235(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [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 BETA), VARIANT ARG-313.
      Tissue: Skin.
    5. "Characterization of human glycogenin-2, a self-glucosylating initiator of liver glycogen metabolism."
      Mu J., Roach P.J.
      J. Biol. Chem. 273:34850-34856(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION, GLYCOSYLATION AT TYR-228.
    6. "Cluster analysis of an extensive human breast cancer cell line protein expression map database."
      Harris R.A., Yang A., Stein R.C., Lucy K., Brusten L., Herath A., Parekh R., Waterfield M.D., O'Hare M.J., Neville M.A., Page M.J., Zvelebil M.J.
      Proteomics 2:212-223(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: MASS SPECTROMETRY.
      Tissue: Mammary cancer.
    7. Cited for: VARIANT ARG-194.

    Entry informationi

    Entry nameiGLYG2_HUMAN
    AccessioniPrimary (citable) accession number: O15488
    Secondary accession number(s): B7WNN6
    , O15485, O15486, O15487, O15489, O15490
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: March 20, 2007
    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 X
      Human chromosome X: 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