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P46976 (GLYG_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 134. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Glycogenin-1

Short name=GN-1
Short name=GN1
EC=2.4.1.186
Gene names
Name:GYG1
Synonyms:GYG
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length350 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Catalytic activity

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

Cofactor

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

Pathway

Glycan biosynthesis; glycogen biosynthesis.

Subunit structure

Homodimer tightly complexed to the 86 kDa catalytic subunit of glycogen synthase GYS1.

Post-translational modification

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-195.

Phosphorylated By similarity.

Involvement in disease

Glycogen storage disease 15 (GSD15) [MIM:613507]: A metabolic disorder resulting in muscle weakness, associated with the glycogen depletion in skeletal muscle, and cardiac arrhythmia, associated with the accumulation of abnormal storage material in the heart. The skeletal muscle shows a marked predominance of slow-twitch, oxidative muscle fibers and mitochondrial proliferation.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.15

Sequence similarities

Belongs to the glycosyltransferase 8 family. Glycogenin subfamily.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

GYS1P138074EBI-740533,EBI-740553

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform GN-1L (identifier: P46976-1)

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.
Isoform GN-1 (identifier: P46976-2)

The sequence of this isoform differs from the canonical sequence as follows:
     277-293: Missing.
Isoform GN-1S (identifier: P46976-3)

The sequence of this isoform differs from the canonical sequence as follows:
     204-350: FGASAKVVHF...IKRKLDTYLQ → KMSQEPYHIC...IHFTSLVSDT

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.11
Chain2 – 350349Glycogenin-1
PRO_0000215176

Regions

Region301 – 33333Interaction with GYS1

Sites

Active site861 By similarity
Metal binding1021Manganese By similarity
Metal binding1041Manganese By similarity
Metal binding2121Manganese By similarity
Site1601Important for catalytic activity By similarity
Site1631Important for catalytic activity By similarity

Amino acid modifications

Modified residue21N-acetylthreonine Ref.11 Ref.13
Modified residue441Phosphoserine By similarity
Glycosylation1951O-linked (Glc...) By similarity

Natural variations

Alternative sequence204 – 350147FGASA…DTYLQ → KMSQEPYHICPLGRSQLWHS RLYPRKNGRNDGNRARLIIW EQIPLTTSRGNLTLTSSRNT AFFCEHIHFTSLVSDT in isoform GN-1S.
VSP_001768
Alternative sequence277 – 29317Missing in isoform GN-1.
VSP_001769
Natural variant831T → M in GSD15; inactivation of the autoglucosylation. Ref.15
VAR_063768

Secondary structure

........................................................ 350
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform GN-1L [UniParc].

Last modified January 23, 2007. Version 4.
Checksum: ABAEEB7160DEC4DF

FASTA35039,384
        10         20         30         40         50         60 
MTDQAFVTLT TNDAYAKGAL VLGSSLKQHR TTRRLVVLAT PQVSDSMRKV LETVFDEVIM 

        70         80         90        100        110        120 
VDVLDSGDSA HLTLMKRPEL GVTLTKLHCW SLTQYSKCVF MDADTLVLAN IDDLFDREEL 

       130        140        150        160        170        180 
SAAPDPGWPD CFNSGVFVYQ PSVETYNQLL HLASEQGSFD GGDQGILNTF FSSWATTDIR 

       190        200        210        220        230        240 
KHLPFIYNLS SISIYSYLPA FKVFGASAKV VHFLGRVKPW NYTYDPKTKS VKSEAHDPNM 

       250        260        270        280        290        300 
THPEFLILWW NIFTTNVLPL LQQFGLVKDT CSYVNVLSDL VYTLAFSCGF CRKEDVSGAI 

       310        320        330        340        350 
SHLSLGEIPA MAQPFVSSEE RKERWEQGQA DYMGADSFDN IKRKLDTYLQ 

« Hide

Isoform GN-1 [UniParc].

Checksum: CD5E3C16F849FF7C
Show »

FASTA33337,479
Isoform GN-1S [UniParc].

Checksum: F8AD62431CBB470E
Show »

FASTA27931,467

References

« Hide 'large scale' references
[1]"The human skeletal muscle glycogenin gene: cDNA, tissue expression and chromosomal localization."
Barbetti F., Rocchi M., Bossolasco M., Cordera R., Sbraccia P., Finelli P., Consalez G.G.
Biochem. Biophys. Res. Commun. 220:72-77(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM GN-1).
Tissue: Skeletal muscle.
[2]"The human intron-containing gene for glycogenin maps to chromosome 3, band q24."
Lomako J., Mazuruk K., Lomako W.M., Alonso M.D., Whelan W.J., Rodriguez I.R.
Genomics 33:519-522(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM GN-1).
[3]Leffers H., Wiemann S., Ansorge W.
Submitted (JUN-1994) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE (ISOFORM GN-1S).
Tissue: Skin.
[4]"Characterization of the human glycogenin-1 gene: identification of a muscle-specific regulatory domain."
van Maanen M.-H., Fournier P.A., Palmer T.N., Abraham L.J.
Gene 234:217-226(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM GN-1).
[5]"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 (ISOFORM GN-1L), ALTERNATIVE SPLICING.
[6]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM GN-1).
[7]"The DNA sequence, annotation and analysis of human chromosome 3."
Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., 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. expand/collapse author list , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]"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 GN-1).
Tissue: Placenta.
[10]"Interaction between glycogenin and glycogen synthase."
Skurat A.V., Dietrich A.D., Roach P.J.
Arch. Biochem. Biophys. 456:93-97(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH GYS1.
[11]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT THR-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
[12]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[13]"Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT THR-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[14]"Crystal structure of human glycogenin-1 (GYG1), apo form."
Structural genomics consortium (SGC)
Submitted (FEB-2011) to the PDB data bank
Cited for: X-RAY CRYSTALLOGRAPHY (1.98 ANGSTROMS) OF 1-262.
[15]"Glycogenin-1 deficiency and inactivated priming of glycogen synthesis."
Moslemi A.R., Lindberg C., Nilsson J., Tajsharghi H., Andersson B., Oldfors A.
N. Engl. J. Med. 362:1203-1210(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GSD15 MET-83, CHARACTERIZATION OF VARIANT GSD15 MET-83.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U44131 mRNA. Translation: AAB00114.1.
U31525 mRNA. Translation: AAB09752.1.
X79537 mRNA. Translation: CAA56073.1.
AF065481 expand/collapse EMBL AC list , AF065476, AF065477, AF065478, AF065479, AF065480 Genomic DNA. Translation: AAD31084.1.
AF087942 mRNA. Translation: AAD52093.1.
CR536547 mRNA. Translation: CAG38784.1.
AC021059 Genomic DNA. No translation available.
CH471052 Genomic DNA. Translation: EAW78894.1.
CH471052 Genomic DNA. Translation: EAW78895.1.
CH471052 Genomic DNA. Translation: EAW78896.1.
CH471052 Genomic DNA. Translation: EAW78898.1.
CH471052 Genomic DNA. Translation: EAW78900.1.
CH471052 Genomic DNA. Translation: EAW78901.1.
BC000033 mRNA. Translation: AAH00033.1.
PIRJC4695.
RefSeqNP_001171649.1. NM_001184720.1.
NP_001171650.1. NM_001184721.1.
NP_004121.2. NM_004130.3.
UniGeneHs.477892.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3Q4SX-ray1.98A1-262[»]
3QVBX-ray2.26A1-262[»]
3RMVX-ray1.82A1-262[»]
3RMWX-ray1.93A1-262[»]
3T7MX-ray1.80A/B1-262[»]
3T7NX-ray1.98A/B1-262[»]
3T7OX-ray1.85A/B1-262[»]
3U2TX-ray2.05A1-262[»]
3U2UX-ray1.45A/B1-262[»]
3U2VX-ray1.50A/B1-262[»]
3U2WX-ray1.68A/B1-262[»]
3U2XX-ray1.77A/B1-262[»]
ProteinModelPortalP46976.
SMRP46976. Positions 1-262.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109247. 9 interactions.
IntActP46976. 13 interactions.
MINTMINT-5000544.
STRING9606.ENSP00000340736.

Protein family/group databases

CAZyGT8. Glycosyltransferase Family 8.

PTM databases

PhosphoSiteP46976.

Proteomic databases

PaxDbP46976.
PRIDEP46976.

Protocols and materials databases

DNASU2992.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000296048; ENSP00000296048; ENSG00000163754. [P46976-2]
ENST00000345003; ENSP00000340736; ENSG00000163754. [P46976-1]
ENST00000484197; ENSP00000420683; ENSG00000163754. [P46976-3]
GeneID2992.
KEGGhsa:2992.
UCSCuc003ewn.3. human. [P46976-1]
uc003ewo.3. human. [P46976-2]

Organism-specific databases

CTD2992.
GeneCardsGC03P148709.
HGNCHGNC:4699. GYG1.
HPAHPA030497.
MIM603942. gene.
613507. phenotype.
neXtProtNX_P46976.
Orphanet263297. Glycogen storage disease due to glycogenin deficiency.
PharmGKBPA29077.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5597.
HOGENOMHOG000008282.
HOVERGENHBG000681.
InParanoidP46976.
KOK00750.
OMALQQFGLV.
OrthoDBEOG7BKCV8.
PhylomeDBP46976.
TreeFamTF312839.

Enzyme and pathway databases

BioCycMetaCyc:HS08931-MONOMER.
ReactomeREACT_111217. Metabolism.
UniPathwayUPA00164.

Gene expression databases

ArrayExpressP46976.
BgeeP46976.
CleanExHS_GYG1.
GenevestigatorP46976.

Family and domain databases

InterProIPR002495. Glyco_trans_8.
[Graphical view]
PfamPF01501. Glyco_transf_8. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceP46976.
GenomeRNAi2992.
NextBio11858.
PROP46976.
SOURCESearch...

Entry information

Entry nameGLYG_HUMAN
AccessionPrimary (citable) accession number: P46976
Secondary accession number(s): D3DNH0 expand/collapse secondary AC list , D3DNH1, D3DNH2, Q6FHZ1, Q9UNV0
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: January 23, 2007
Last modified: April 16, 2014
This is version 134 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM