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P46976

- GLYG_HUMAN

UniProt

P46976 - GLYG_HUMAN

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Protein
Glycogenin-1
Gene
GYG1, GYG
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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 sitei86 – 861 By similarity
Metal bindingi102 – 1021Manganese By similarity
Metal bindingi104 – 1041Manganese By similarity
Sitei160 – 1601Important for catalytic activity By similarity
Sitei163 – 1631Important for catalytic activity By similarity
Metal bindingi212 – 2121Manganese By similarity

GO - Molecular functioni

  1. glucose binding Source: Ensembl
  2. glycogenin glucosyltransferase activity Source: Reactome
  3. metal ion binding Source: UniProtKB-KW
  4. protein binding Source: UniProtKB

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
Complete GO annotation...

Keywords - Molecular functioni

Transferase

Keywords - Biological processi

Glycogen biosynthesis

Keywords - Ligandi

Manganese, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS08931-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-1 (EC:2.4.1.186)
Short name:
GN-1
Short name:
GN1
Gene namesi
Name:GYG1
Synonyms:GYG
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:4699. GYG1.

Subcellular locationi

GO - Cellular componenti

  1. cytosol Source: Reactome
  2. extracellular vesicular exosome Source: UniProt
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti83 – 831T → M in GSD15; inactivation of the autoglucosylation. 1 Publication
VAR_063768

Keywords - Diseasei

Disease mutation, Glycogen storage disease

Organism-specific databases

MIMi613507. phenotype.
Orphaneti263297. Glycogen storage disease due to glycogenin deficiency.
PharmGKBiPA29077.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 350349Glycogenin-1
PRO_0000215176Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylthreonine2 Publications
Modified residuei44 – 441Phosphoserine By similarity
Glycosylationi195 – 1951O-linked (Glc...) By similarity

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-195.
Phosphorylated By similarity.

Keywords - PTMi

Acetylation, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiP46976.
PaxDbiP46976.
PRIDEiP46976.

PTM databases

PhosphoSiteiP46976.

Expressioni

Gene expression databases

ArrayExpressiP46976.
BgeeiP46976.
CleanExiHS_GYG1.
GenevestigatoriP46976.

Organism-specific databases

HPAiHPA030497.

Interactioni

Subunit structurei

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

Binary interactionsi

WithEntry#Exp.IntActNotes
GYS1P138074EBI-740533,EBI-740553

Protein-protein interaction databases

BioGridi109247. 9 interactions.
IntActiP46976. 13 interactions.
MINTiMINT-5000544.
STRINGi9606.ENSP00000340736.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi4 – 129
Helixi13 – 2816
Beta strandi33 – 397
Helixi45 – 5410
Beta strandi55 – 606
Helixi69 – 746
Helixi80 – 9112
Beta strandi96 – 1016
Beta strandi105 – 1073
Helixi112 – 1165
Beta strandi119 – 1246
Beta strandi126 – 1283
Beta strandi131 – 1399
Helixi143 – 15614
Beta strandi159 – 1613
Helixi163 – 1708
Turni171 – 1766
Helixi179 – 1813
Helixi185 – 1873
Beta strandi188 – 1903
Helixi191 – 1955
Helixi198 – 2047
Helixi205 – 2073
Beta strandi209 – 2124
Beta strandi215 – 2173
Helixi219 – 2213
Beta strandi222 – 2254
Turni226 – 2294
Beta strandi230 – 2323
Helixi238 – 2403
Helixi244 – 25613
Helixi258 – 2614

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
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[»]
ProteinModelPortaliP46976.
SMRiP46976. Positions 1-262.

Miscellaneous databases

EvolutionaryTraceiP46976.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni301 – 33333Interaction with GYS1
Add
BLAST

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG5597.
HOGENOMiHOG000008282.
HOVERGENiHBG000681.
InParanoidiP46976.
KOiK00750.
OMAiLQQFGLV.
OrthoDBiEOG7BKCV8.
PhylomeDBiP46976.
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 (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform GN-1L (identifier: P46976-1) [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

MTDQAFVTLT TNDAYAKGAL VLGSSLKQHR TTRRLVVLAT PQVSDSMRKV    50
LETVFDEVIM VDVLDSGDSA HLTLMKRPEL GVTLTKLHCW SLTQYSKCVF 100
MDADTLVLAN IDDLFDREEL SAAPDPGWPD CFNSGVFVYQ PSVETYNQLL 150
HLASEQGSFD GGDQGILNTF FSSWATTDIR KHLPFIYNLS SISIYSYLPA 200
FKVFGASAKV VHFLGRVKPW NYTYDPKTKS VKSEAHDPNM THPEFLILWW 250
NIFTTNVLPL LQQFGLVKDT CSYVNVLSDL VYTLAFSCGF CRKEDVSGAI 300
SHLSLGEIPA MAQPFVSSEE RKERWEQGQA DYMGADSFDN IKRKLDTYLQ 350
Length:350
Mass (Da):39,384
Last modified:January 23, 2007 - v4
Checksum:iABAEEB7160DEC4DF
GO
Isoform GN-1 (identifier: P46976-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     277-293: Missing.

Show »
Length:333
Mass (Da):37,479
Checksum:iCD5E3C16F849FF7C
GO
Isoform GN-1S (identifier: P46976-3) [UniParc]FASTAAdd to Basket

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

Show »
Length:279
Mass (Da):31,467
Checksum:iF8AD62431CBB470E
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti83 – 831T → M in GSD15; inactivation of the autoglucosylation. 1 Publication
VAR_063768

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei204 – 350147FGASA…DTYLQ → KMSQEPYHICPLGRSQLWHS RLYPRKNGRNDGNRARLIIW EQIPLTTSRGNLTLTSSRNT AFFCEHIHFTSLVSDT in isoform GN-1S.
VSP_001768Add
BLAST
Alternative sequencei277 – 29317Missing in isoform GN-1.
VSP_001769Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U44131 mRNA. Translation: AAB00114.1.
U31525 mRNA. Translation: AAB09752.1.
X79537 mRNA. Translation: CAA56073.1.
AF065481
, 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.
CCDSiCCDS3139.1. [P46976-1]
CCDS54654.1. [P46976-2]
CCDS54655.1. [P46976-3]
PIRiJC4695.
RefSeqiNP_001171649.1. NM_001184720.1. [P46976-2]
NP_001171650.1. NM_001184721.1. [P46976-3]
NP_004121.2. NM_004130.3. [P46976-1]
UniGeneiHs.477892.

Genome annotation databases

EnsembliENST00000296048; ENSP00000296048; ENSG00000163754. [P46976-2]
ENST00000345003; ENSP00000340736; ENSG00000163754. [P46976-1]
ENST00000484197; ENSP00000420683; ENSG00000163754. [P46976-3]
GeneIDi2992.
KEGGihsa:2992.
UCSCiuc003ewn.3. human. [P46976-1]
uc003ewo.3. human. [P46976-2]
uc003ewp.3. human.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U44131 mRNA. Translation: AAB00114.1 .
U31525 mRNA. Translation: AAB09752.1 .
X79537 mRNA. Translation: CAA56073.1 .
AF065481
, 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 .
CCDSi CCDS3139.1. [P46976-1 ]
CCDS54654.1. [P46976-2 ]
CCDS54655.1. [P46976-3 ]
PIRi JC4695.
RefSeqi NP_001171649.1. NM_001184720.1. [P46976-2 ]
NP_001171650.1. NM_001184721.1. [P46976-3 ]
NP_004121.2. NM_004130.3. [P46976-1 ]
UniGenei Hs.477892.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
3Q4S X-ray 1.98 A 1-262 [» ]
3QVB X-ray 2.26 A 1-262 [» ]
3RMV X-ray 1.82 A 1-262 [» ]
3RMW X-ray 1.93 A 1-262 [» ]
3T7M X-ray 1.80 A/B 1-262 [» ]
3T7N X-ray 1.98 A/B 1-262 [» ]
3T7O X-ray 1.85 A/B 1-262 [» ]
3U2T X-ray 2.05 A 1-262 [» ]
3U2U X-ray 1.45 A/B 1-262 [» ]
3U2V X-ray 1.50 A/B 1-262 [» ]
3U2W X-ray 1.68 A/B 1-262 [» ]
3U2X X-ray 1.77 A/B 1-262 [» ]
ProteinModelPortali P46976.
SMRi P46976. Positions 1-262.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109247. 9 interactions.
IntActi P46976. 13 interactions.
MINTi MINT-5000544.
STRINGi 9606.ENSP00000340736.

Protein family/group databases

CAZyi GT8. Glycosyltransferase Family 8.

PTM databases

PhosphoSitei P46976.

Proteomic databases

MaxQBi P46976.
PaxDbi P46976.
PRIDEi P46976.

Protocols and materials databases

DNASUi 2992.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000296048 ; ENSP00000296048 ; ENSG00000163754 . [P46976-2 ]
ENST00000345003 ; ENSP00000340736 ; ENSG00000163754 . [P46976-1 ]
ENST00000484197 ; ENSP00000420683 ; ENSG00000163754 . [P46976-3 ]
GeneIDi 2992.
KEGGi hsa:2992.
UCSCi uc003ewn.3. human. [P46976-1 ]
uc003ewo.3. human. [P46976-2 ]
uc003ewp.3. human.

Organism-specific databases

CTDi 2992.
GeneCardsi GC03P148709.
HGNCi HGNC:4699. GYG1.
HPAi HPA030497.
MIMi 603942. gene.
613507. phenotype.
neXtProti NX_P46976.
Orphaneti 263297. Glycogen storage disease due to glycogenin deficiency.
PharmGKBi PA29077.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5597.
HOGENOMi HOG000008282.
HOVERGENi HBG000681.
InParanoidi P46976.
KOi K00750.
OMAi LQQFGLV.
OrthoDBi EOG7BKCV8.
PhylomeDBi P46976.
TreeFami TF312839.

Enzyme and pathway databases

UniPathwayi UPA00164 .
BioCyci MetaCyc:HS08931-MONOMER.
Reactomei REACT_1008. Glycogen breakdown (glycogenolysis).
REACT_169208. Glycogen synthesis.
REACT_200783. Myoclonic epilepsy of Lafora.

Miscellaneous databases

EvolutionaryTracei P46976.
GenomeRNAii 2992.
NextBioi 11858.
PROi P46976.
SOURCEi Search...

Gene expression databases

ArrayExpressi P46976.
Bgeei P46976.
CleanExi HS_GYG1.
Genevestigatori P46976.

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

« Hide 'large scale' publications
  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.
    , 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. 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. 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.

Entry informationi

Entry nameiGLYG_HUMAN
AccessioniPrimary (citable) accession number: P46976
Secondary accession number(s): D3DNH0
, D3DNH1, D3DNH2, Q6FHZ1, Q9UNV0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: January 23, 2007
Last modified: September 3, 2014
This is version 138 of the entry and version 4 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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