UniProtKB - P46976 (GLYG_HUMAN)
Glycogenin-1
GYG1
Functioni
Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase.
2 PublicationsCatalytic activityi
- L-tyrosyl-[glycogenin] + UDP-α-D-glucose = α-D-glucosyl-L-tyrosyl-[glycogenin] + H+ + UDP2 PublicationsEC:2.4.1.1862 Publications
- [1,4-α-D-glucosyl](n)-L-tyrosyl-[glycogenin] + UDP-α-D-glucose = [1,4-α-D-glucosyl](n+1)-L-tyrosyl-[glycogenin] + H+ + UDP2 PublicationsEC:2.4.1.1862 Publications
Cofactori
Activity regulationi
: glycogen biosynthesis Pathwayi
This protein is involved in the pathway glycogen biosynthesis, which is part of Glycan biosynthesis.2 PublicationsView all proteins of this organism that are known to be involved in the pathway glycogen biosynthesis and in Glycan biosynthesis.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 77 | SubstrateCombined sources1 Publication | 1 | |
Sitei | 86 | Important for catalytic activityBy similarity | 1 | |
Metal bindingi | 102 | ManganeseCombined sources2 Publications | 1 | |
Metal bindingi | 104 | ManganeseCombined sources2 Publications | 1 | |
Metal bindingi | 212 | ManganeseCombined sources2 Publications | 1 |
GO - Molecular functioni
- glycogenin glucosyltransferase activity Source: UniProtKB
- glycosyltransferase activity Source: GO_Central
- manganese ion binding Source: UniProtKB
- protein homodimerization activity Source: UniProtKB
- UDP-alpha-D-glucose:glucosyl-glycogenin alpha-D-glucosyltransferase activity Source: UniProtKB
GO - Biological processi
- glycogen biosynthetic process Source: UniProtKB
Keywordsi
Molecular function | Transferase |
Biological process | Glycogen biosynthesis |
Ligand | Manganese, Metal-binding |
Enzyme and pathway databases
BRENDAi | 2.4.1.186, 2681 |
PathwayCommonsi | P46976 |
Reactomei | R-HSA-3322077, Glycogen synthesis R-HSA-3785653, Myoclonic epilepsy of Lafora R-HSA-3814836, Glycogen storage disease type XV (GYG1) R-HSA-3828062, Glycogen storage disease type 0 (muscle GYS1) R-HSA-5357609, Glycogen storage disease type II (GAA) R-HSA-6798695, Neutrophil degranulation R-HSA-70221, Glycogen breakdown (glycogenolysis) |
SignaLinki | P46976 |
UniPathwayi | UPA00164 |
Protein family/group databases
CAZyi | GT8, Glycosyltransferase Family 8 |
Names & Taxonomyi
Protein namesi | |
Gene namesi | Name:GYG1 Synonyms:GYG |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:4699, GYG1 |
MIMi | 603942, gene |
neXtProti | NX_P46976 |
VEuPathDBi | HostDB:ENSG00000163754 |
Subcellular locationi
Cytosol
- cytosol Source: Reactome
Extracellular region or secreted
- extracellular region Source: Reactome
Lysosome
- lysosomal lumen Source: Reactome
Other locations
- ficolin-1-rich granule lumen Source: Reactome
- membrane Source: UniProtKB
- secretory granule lumen Source: Reactome
Pathology & Biotechi
Involvement in diseasei
Glycogen storage disease 15 (GSD15)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_063768 | 83 | T → M in GSD15; loss of autoglucosylation. 2 PublicationsCorresponds to variant dbSNP:rs267606858EnsemblClinVar. | 1 |
Polyglucosan body myopathy 2 (PGBM2)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_072706 | 16 | A → P in PGBM2. 1 PublicationCorresponds to variant dbSNP:rs200947378Ensembl. | 1 | |
Natural variantiVAR_072707 | 102 | D → H in PGBM2. 1 PublicationCorresponds to variant dbSNP:rs143137713EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 195 | Y → F: Loss of glucosylation. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Glycogen storage diseaseOrganism-specific databases
DisGeNETi | 2992 |
MalaCardsi | GYG1 |
MIMi | 613507, phenotype 616199, phenotype |
OpenTargetsi | ENSG00000163754 |
Orphaneti | 263297, Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency 456369, Polyglucosan body myopathy type 2 |
PharmGKBi | PA29077 |
Miscellaneous databases
Pharosi | P46976, Tbio |
Chemistry databases
DrugBanki | DB01861, Uridine diphosphate glucose DB03435, Uridine-5'-Diphosphate |
Genetic variation databases
BioMutai | GYG1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000215176 | 2 – 350 | Glycogenin-1CuratedAdd BLAST | 349 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylthreonineCombined sources | 1 | |
Modified residuei | 44 | PhosphoserineBy similarity | 1 | |
Glycosylationi | 195 | O-linked (Glc...) tyrosineCombined sources2 Publications | 1 |
Post-translational modificationi
Keywords - PTMi
Acetylation, Glycoprotein, PhosphoproteinProteomic databases
EPDi | P46976 |
jPOSTi | P46976 |
MassIVEi | P46976 |
MaxQBi | P46976 |
PaxDbi | P46976 |
PeptideAtlasi | P46976 |
PRIDEi | P46976 |
ProteomicsDBi | 12738 55779 [P46976-1] 55780 [P46976-2] 55781 [P46976-3] |
PTM databases
GlyGeni | P46976, 2 sites, 1 O-linked glycan (1 site) |
iPTMneti | P46976 |
MetOSitei | P46976 |
PhosphoSitePlusi | P46976 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000163754, Expressed in deltoid and 254 other tissues |
ExpressionAtlasi | P46976, baseline and differential |
Genevisiblei | P46976, HS |
Organism-specific databases
HPAi | ENSG00000163754, Tissue enhanced (skeletal muscle, tongue) |
Interactioni
Subunit structurei
Binary interactionsi
P46976
With | #Exp. | IntAct |
---|---|---|
GYS1 [P13807] | 7 | EBI-740533,EBI-740553 |
Isoform GN-1 [P46976-2]
With | #Exp. | IntAct |
---|---|---|
GYS1 [P13807] | 3 | EBI-12017394,EBI-740553 |
GO - Molecular functioni
- protein homodimerization activity Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 109247, 25 interactors |
IntActi | P46976, 20 interactors |
STRINGi | 9606.ENSP00000340736 |
Miscellaneous databases
RNActi | P46976, protein |
Structurei
Secondary structure
3D structure databases
SMRi | P46976 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P46976 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 9 – 15 | Substrate bindingCombined sources2 Publications | 7 | |
Regioni | 102 – 104 | Substrate bindingCombined sources1 Publication | 3 | |
Regioni | 133 – 135 | Substrate bindingCombined sources1 Publication | 3 | |
Regioni | 160 – 164 | Substrate bindingCombined sources1 Publication | 5 | |
Regioni | 212 – 218 | Substrate bindingCombined sources2 Publications | 7 | |
Regioni | 301 – 333 | Interaction with GYS11 PublicationAdd BLAST | 33 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG1950, Eukaryota |
GeneTreei | ENSGT00940000154674 |
InParanoidi | P46976 |
OMAi | GFCRKEG |
OrthoDBi | 1424146at2759 |
PhylomeDBi | P46976 |
TreeFami | TF312839 |
Family and domain databases
Gene3Di | 3.90.550.10, 1 hit |
InterProi | View protein in InterPro IPR002495, Glyco_trans_8 IPR029044, Nucleotide-diphossugar_trans |
Pfami | View protein in Pfam PF01501, Glyco_transf_8, 1 hit |
SUPFAMi | SSF53448, SSF53448, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MTDQAFVTLT TNDAYAKGAL VLGSSLKQHR TTRRLVVLAT PQVSDSMRKV
60 70 80 90 100
LETVFDEVIM VDVLDSGDSA HLTLMKRPEL GVTLTKLHCW SLTQYSKCVF
110 120 130 140 150
MDADTLVLAN IDDLFDREEL SAAPDPGWPD CFNSGVFVYQ PSVETYNQLL
160 170 180 190 200
HLASEQGSFD GGDQGILNTF FSSWATTDIR KHLPFIYNLS SISIYSYLPA
210 220 230 240 250
FKVFGASAKV VHFLGRVKPW NYTYDPKTKS VKSEAHDPNM THPEFLILWW
260 270 280 290 300
NIFTTNVLPL LQQFGLVKDT CSYVNVLSDL VYTLAFSCGF CRKEDVSGAI
310 320 330 340 350
SHLSLGEIPA MAQPFVSSEE RKERWEQGQA DYMGADSFDN IKRKLDTYLQ
The sequence of this isoform differs from the canonical sequence as follows:
277-293: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
204-350: FGASAKVVHF...IKRKLDTYLQ → KMSQEPYHIC...IHFTSLVSDT
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketC9JQ42 | C9JQ42_HUMAN | Glycogenin-1 | GYG1 | 265 | Annotation score: | ||
G5E9W8 | G5E9W8_HUMAN | Glycogenin 1, isoform CRA_e | GYG1 hCG_21210 | 193 | Annotation score: | ||
C9J7C7 | C9J7C7_HUMAN | Glycogenin-1 | GYG1 | 110 | Annotation score: | ||
C9J8R8 | C9J8R8_HUMAN | Glycogenin-1 | GYG1 | 60 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_072706 | 16 | A → P in PGBM2. 1 PublicationCorresponds to variant dbSNP:rs200947378Ensembl. | 1 | |
Natural variantiVAR_063768 | 83 | T → M in GSD15; loss of autoglucosylation. 2 PublicationsCorresponds to variant dbSNP:rs267606858EnsemblClinVar. | 1 | |
Natural variantiVAR_072707 | 102 | D → H in PGBM2. 1 PublicationCorresponds to variant dbSNP:rs143137713EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_001768 | 204 – 350 | FGASA…DTYLQ → KMSQEPYHICPLGRSQLWHS RLYPRKNGRNDGNRARLIIW EQIPLTTSRGNLTLTSSRNT AFFCEHIHFTSLVSDT in isoform GN-1S. CuratedAdd BLAST | 147 | |
Alternative sequenceiVSP_001769 | 277 – 293 | Missing in isoform GN-1. 4 PublicationsAdd BLAST | 17 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi 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] |
Genome annotation databases
Ensembli | ENST00000296048; ENSP00000296048; ENSG00000163754 [P46976-2] ENST00000345003; ENSP00000340736; ENSG00000163754 ENST00000484197; ENSP00000420683; ENSG00000163754 [P46976-3] |
GeneIDi | 2992 |
KEGGi | hsa:2992 |
MANE-Selecti | ENST00000345003.9; ENSP00000340736.4; NM_004130.4; NP_004121.2 |
UCSCi | uc003ewn.4, human [P46976-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi 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] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB 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 | [»] | |
6EQJ | X-ray | 2.18 | A | 1-262 | [»] | |
6EQL | X-ray | 2.38 | A/B | 1-262 | [»] | |
SMRi | P46976 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 109247, 25 interactors |
IntActi | P46976, 20 interactors |
STRINGi | 9606.ENSP00000340736 |
Chemistry databases
DrugBanki | DB01861, Uridine diphosphate glucose DB03435, Uridine-5'-Diphosphate |
Protein family/group databases
CAZyi | GT8, Glycosyltransferase Family 8 |
PTM databases
GlyGeni | P46976, 2 sites, 1 O-linked glycan (1 site) |
iPTMneti | P46976 |
MetOSitei | P46976 |
PhosphoSitePlusi | P46976 |
Genetic variation databases
BioMutai | GYG1 |
Proteomic databases
EPDi | P46976 |
jPOSTi | P46976 |
MassIVEi | P46976 |
MaxQBi | P46976 |
PaxDbi | P46976 |
PeptideAtlasi | P46976 |
PRIDEi | P46976 |
ProteomicsDBi | 12738 55779 [P46976-1] 55780 [P46976-2] 55781 [P46976-3] |
Protocols and materials databases
Antibodypediai | 33551, 204 antibodies from 28 providers |
DNASUi | 2992 |
Genome annotation databases
Ensembli | ENST00000296048; ENSP00000296048; ENSG00000163754 [P46976-2] ENST00000345003; ENSP00000340736; ENSG00000163754 ENST00000484197; ENSP00000420683; ENSG00000163754 [P46976-3] |
GeneIDi | 2992 |
KEGGi | hsa:2992 |
MANE-Selecti | ENST00000345003.9; ENSP00000340736.4; NM_004130.4; NP_004121.2 |
UCSCi | uc003ewn.4, human [P46976-1] |
Organism-specific databases
CTDi | 2992 |
DisGeNETi | 2992 |
GeneCardsi | GYG1 |
HGNCi | HGNC:4699, GYG1 |
HPAi | ENSG00000163754, Tissue enhanced (skeletal muscle, tongue) |
MalaCardsi | GYG1 |
MIMi | 603942, gene 613507, phenotype 616199, phenotype |
neXtProti | NX_P46976 |
OpenTargetsi | ENSG00000163754 |
Orphaneti | 263297, Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency 456369, Polyglucosan body myopathy type 2 |
PharmGKBi | PA29077 |
VEuPathDBi | HostDB:ENSG00000163754 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1950, Eukaryota |
GeneTreei | ENSGT00940000154674 |
InParanoidi | P46976 |
OMAi | GFCRKEG |
OrthoDBi | 1424146at2759 |
PhylomeDBi | P46976 |
TreeFami | TF312839 |
Enzyme and pathway databases
UniPathwayi | UPA00164 |
BRENDAi | 2.4.1.186, 2681 |
PathwayCommonsi | P46976 |
Reactomei | R-HSA-3322077, Glycogen synthesis R-HSA-3785653, Myoclonic epilepsy of Lafora R-HSA-3814836, Glycogen storage disease type XV (GYG1) R-HSA-3828062, Glycogen storage disease type 0 (muscle GYS1) R-HSA-5357609, Glycogen storage disease type II (GAA) R-HSA-6798695, Neutrophil degranulation R-HSA-70221, Glycogen breakdown (glycogenolysis) |
SignaLinki | P46976 |
Miscellaneous databases
BioGRID-ORCSi | 2992, 13 hits in 1045 CRISPR screens |
ChiTaRSi | GYG1, human |
EvolutionaryTracei | P46976 |
GenomeRNAii | 2992 |
Pharosi | P46976, Tbio |
PROi | PR:P46976 |
RNActi | P46976, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000163754, Expressed in deltoid and 254 other tissues |
ExpressionAtlasi | P46976, baseline and differential |
Genevisiblei | P46976, HS |
Family and domain databases
Gene3Di | 3.90.550.10, 1 hit |
InterProi | View protein in InterPro IPR002495, Glyco_trans_8 IPR029044, Nucleotide-diphossugar_trans |
Pfami | View protein in Pfam PF01501, Glyco_transf_8, 1 hit |
SUPFAMi | SSF53448, SSF53448, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | GLYG_HUMAN | |
Accessioni | P46976Primary (citable) accession number: P46976 Secondary accession number(s): D3DNH0 Q9UNV0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1995 |
Last sequence update: | January 23, 2007 | |
Last modified: | February 23, 2022 | |
This is version 192 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families