GYG1
entrez
2992
canonical
uniprot
P46976
canonical
ensembl
ENSG00000163754
resolver
ensp
ENSP00000296048
resolver
ensp
ENSP00000340736
resolver
ensp
ENSP00000420683
resolver
ensp
ENSP00000612984
resolver
genesymbol
GYG1
resolver
genesymbol_syn
GYG
resolver
hgnc
HGNC:4699
resolver
uniprot
D3DNH0
resolver
uniprot
D3DNH1
resolver
uniprot
D3DNH2
resolver
uniprot
Q6FHZ1
resolver
uniprot
Q9UNV0
resolver
uniprot_entry
GLYG_HUMAN
resolver
uniprot_sec
D3DNH0
resolver
uniprot_sec
D3DNH1
resolver
uniprot_sec
D3DNH2
resolver
uniprot_sec
Q6FHZ1
resolver
uniprot_sec
Q9UNV0
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by palladium ions. {ECO:0000269|PubMed:30356213}.
uniprot
proteins
amino_acid_sequence
MTDQAFVTLTTNDAYAKGALVLGSSLKQHRTTRRLVVLATPQVSDSMRKVLETVFDEVIMVDVLDSGDSAHLTLMKRPELGVTLTKLHCWSLTQYSKCVFMDADTLVLANIDDLFDREELSAAPDPGWPDCFNSGVFVYQPSVETYNQLLHLASEQGSFDGGDQGILNTFFSSWATTDIRKHLPFIYNLSSISIYSYLPAFKVFGASAKVVHFLGRVKPWNYTYDPKTKSVKSEAHDPNMTHPEFLILWWNIFTTNVLPLLQQFGLVKDTCSYVNVLSDLVYTLAFSCGFCRKEDVSGAISHLSLGEIPAMAQPFVSSEERKERWEQGQADYMGADSFDNIKRKLDTYLQ
uniprot
proteins
disease_involvement
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. {ECO:0000269|PubMed:20357282, ECO:0000269|PubMed:22160680}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Polyglucosan body myopathy 2 (PGBM2) [MIM:616199]: A glycogen storage disease characterized by polyglucosan accumulation in muscle, and skeletal myopathy without cardiac involvement. Most patients manifest slowly progressive, hip girdle, shoulder girdle, and/or hand and leg muscle weakness. Polyglucosan contains abnormally long and poorly branched glucosyl chains and is variably resistant to digestion by alpha-amylase. {ECO:0000269|PubMed:25272951}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.186
uniprot
proteins
function
FUNCTION: Glycogenin participates in the glycogen biosynthetic process along with glycogen synthase and glycogen branching enzyme. It catalyzes the formation of a short alpha (1,4)-glucosyl chain covalently attached via a glucose 1-O-tyrosyl linkage to internal tyrosine residues and these chains act as primers for the elongation reaction catalyzed by glycogen synthase. {ECO:0000269|PubMed:22160680, ECO:0000269|PubMed:30356213}.
uniprot
proteins
mass_dalton
39384
uniprot
proteins
mutagenesis
MUTAGEN 195; /note="Y->F: Loss of glucosylation."; /evidence="ECO:0000269|PubMed:22160680, ECO:0000269|PubMed:35690592
uniprot
proteins
pathway_participation
PATHWAY: Glycan biosynthesis; glycogen biosynthesis. {ECO:0000269|PubMed:22160680, ECO:0000269|PubMed:30356213}.
uniprot
proteins
post_translational_modification
PTM: 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. {ECO:0000269|PubMed:22160680, ECO:0000269|PubMed:30356213}.; PTM: Phosphorylated. {ECO:0000250|UniProtKB:P13280}.
uniprot
proteins
protein_family
Glycogenin subfamily
uniprot
proteins
protein_family
Glycosyltransferase 8 family
uniprot
proteins
pubmed
10395894
uniprot
proteins
pubmed
10721716
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
17055998
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20357282
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22160680
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
25272951
uniprot
proteins
pubmed
30356213
uniprot
proteins
pubmed
35690592
uniprot
proteins
pubmed
35835870
uniprot
proteins
pubmed
8602861
uniprot
proteins
pubmed
8661012
uniprot
proteins
sequence_length
350
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P13280}. Nucleus {ECO:0000250|UniProtKB:P13280}. Note=Localizes to glycogen granules (glycosomes) in the cytoplasm (By similarity). Cytosolic localization is dependent on the actin cytoskeleton (By similarity). {ECO:0000250|UniProtKB:C4R941, ECO:0000250|UniProtKB:P13280}.
uniprot
proteins