Reactome | UniProt:P13807 GYS1

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UniProt:P13807 GYS1 Show undefined attributes

chain	chain:1-737
checksum	0E321BBFDEB0BD7F
comment	FUNCTION Glycogen synthase participates in the glycogen biosynthetic process along with glycogenin and glycogen branching enzyme. Extends the primer composed of a few glucose units formed by glycogenin by adding new glucose units to it. In this context, glycogen synthase transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan.CATALYTIC ACTIVITY [(1->4)-alpha-D-glucosyl](n) + UDP-alpha-D-glucose = [(1->4)-alpha-D-glucosyl](n+1) + UDP + H(+)ACTIVITY REGULATION Allosteric activation by glucose-6-phosphate (PubMed:35690592, PubMed:35835870). Phosphorylation reduces enzyme activity by constraining a tense conformation of the tetramer through inter-subunit interaction (PubMed:35690592, PubMed:35835870). Phosphorylation reduces the activity towards UDP-glucose (By similarity). When in the non-phosphorylated state, glycogen synthase does not require glucose-6-phosphate as an allosteric activator; when phosphorylated it does (By similarity).PATHWAY Glycan biosynthesis; glycogen biosynthesis.SUBUNIT Part of the GYS1-GYG1 complex, a heterooctamer composed of a tetramer of GYS1 and 2 dimers of GYG1, where each GYS1 protomer binds to one GYG1 subunit (via GYG1 C-terminus); the GYS1 tetramer may dissociate from GYG1 dimers to continue glycogen polymerization on its own.INTERACTION Expressed in skeletal muscle and most other cell types where glycogen is present.PTM Phosphorylation at Ser-8 by AMPK inactivates the enzyme activity. Primed phosphorylation at Ser-657 (site 5) by CSNK2A1 and CSNK2A2 is required for inhibitory phosphorylation at Ser-641 (site 3a), Ser-645 (site 3b), Ser-649 (site 3c) and Ser-653 (site 4) by GSK3A an GSK3B (By similarity). Phosphorylated at Ser-641 by DYRK2, leading to inactivation (By similarity). Phosphorylated at Ser-641 by PASK, leading to inactivation; phosphorylation by PASK is inhibited by glycogen. Dephosphorylation at Ser-641 and Ser-645 by PP1 activates the enzyme (PubMed:35835870).DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the glycosyltransferase 3 family.
crossReference	[DatabaseIdentifier:12369028] RefSeq:NP_002094.2 [DatabaseIdentifier:12816333] ZINC target:P13807 [DatabaseIdentifier:12812940] ZINC - Substances:GYS1_HUMAN [DatabaseIdentifier:12808628] ZINC - Predictions - Purchasable:GYS1_HUMAN [DatabaseIdentifier:11472665] ENSEMBL:ENSG00000104812 [DatabaseIdentifier:11570403] ENSEMBL:ENSP00000317904 [DatabaseIdentifier:11570402] ENSEMBL:ENSP00000263276 [DatabaseIdentifier:11693102] ENSEMBL:ENST00000263276 [DatabaseIdentifier:11693101] ENSEMBL:ENST00000323798 [DatabaseIdentifier:11787904] GeneCards:GYS1 [DatabaseIdentifier:11803429] GlyGen:P13807 [DatabaseIdentifier:11832439] HMDB Protein:HMDBP01094 [DatabaseIdentifier:11840973] HPA:ENSG00000104812-GYS1 [DatabaseIdentifier:11851191] IntEnz:2.4.1.11 [DatabaseIdentifier:12125520] OpenTargets:ENSG00000104812 [DatabaseIdentifier:12136940] Orphanet:GYS1 [DatabaseIdentifier:12181005] PDB:8CVX [DatabaseIdentifier:12181002] PDB:7Q0B [DatabaseIdentifier:12181003] PDB:7Q13 [DatabaseIdentifier:12181000] PDB:7ZBN [DatabaseIdentifier:12181004] PDB:7Q0S [DatabaseIdentifier:12181001] PDB:8CVZ [DatabaseIdentifier:12180999] PDB:8CVY [DatabaseIdentifier:12180998] PDB:7Q12 [DatabaseIdentifier:12180689] PDB:8Z0A [DatabaseIdentifier:12265279] PRO:P13807 [DatabaseIdentifier:12285805] Pharos - Targets:P13807 [DatabaseIdentifier:12369029] RefSeq:NP_001155059.1
databaseName	UniProt
dbId	56096
description	recommendedName: fullName evidence="11"Glycogen [starch] synthase, muscle ecNumber evidence="1 13"2.4.1.11 alternativeName: fullName evidence="14"Glycogen synthase 1
displayName	UniProt:P13807 GYS1
geneName	GYS1 GYS
identifier	P13807
isSequenceChanged	false
keyword	3D-structure Allosteric enzyme Alternative splicing Diabetes mellitus Disease variant Glycogen biosynthesis Glycosyltransferase Phosphoprotein Proteomics identification Reference proteome Transferase
modified	[InstanceEdit:9939033] Weiser, Joel, 2025-02-21
moleculeType	Protein
name	GYS1
otherIdentifier	11719371_a_at 11751201_a_at 11753041_a_at 16874156 201673_PM_s_at 201673_s_at 2997 37299_at 3867539 3867540 3867541 3867542 3867543 3867544 3867545 3867546 3867547 3867549 3867550 3867551 3867552 3867555 3867556 3867557 3867558 3867559 3867560 3867561 3867562 3867565 3867566 3867567 3867568 3867569 3867570 8038261 A_23_P208698 GE57509 GO:0003824 GO:0004373 GO:0005515 GO:0005536 GO:0005737 GO:0005829 GO:0005975 GO:0005977 GO:0005978 GO:0007507 GO:0016020 GO:0016234 GO:0016740 GO:0016757 GO:0048856 GO:0061547 HMNXSV003035361 ILMN_1711289 J04501_at PH_hs_0024385 TC19001703.hg TC19002540.hg g4504232_3p_a_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-71570] p-S-GYS1 [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-71565] GYS1 [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-3828056] GYS1 R462* [cytosol] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:ensembl:ENSG00000104812] ENSEMBL:ENSG00000104812 GYS1 [ReferenceDNASequence:12738435] UCSC:P13807 GYS1 [ReferenceDNASequence:11337788] BioGPS Gene:2997 GYS1 [ReferenceDNASequence:11399364] COSMIC - genes:GYS1 GYS1 [ReferenceDNASequence:11413887] CTD Gene:2997 GYS1 [ReferenceDNASequence:11436371] dbSNP Gene:2997 GYS1 [ReferenceDNASequence:11819553] HGNC:4706 GYS1 [ReferenceDNASequence:11878765] KEGG:hsa:2997 GYS1 [ReferenceDNASequence:11967577] Monarch:2997 GYS1 [ReferenceDNASequence:12051670] NCBI Gene:2997 GYS1 [ReferenceDNASequence:12110818] OMIM:138570 GYS1
referenceTranscript	[ReferenceRNASequence:12550852] RefSeq:NM_001161587.2 GYS1 [ReferenceRNASequence:12550851] RefSeq:NM_002103.4 GYS1
schemaClass	ReferenceGeneProduct
secondaryIdentifier	GYS1_HUMAN Q9BTT9
sequenceLength	737
species	[Species:48887] Homo sapiens
stId	uniprot:P13807
url	http://purl.uniprot.org/uniprot/P13807

Referrals

(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-71570] p-S-GYS1 [cytosol] [EntityWithAccessionedSequence:R-HSA-71565] GYS1 [cytosol] [EntityWithAccessionedSequence:R-HSA-3828056] GYS1 R462* [cytosol]
(referenceSequence)	[ModifiedResidue:71569] O-phospho-L-serine at unknown position [NonsenseMutation:9827813] Nonsense mutation at L-arginine 462
(interactor)	[UndirectedInteraction:11147953] UniProt:P13569 <-> UniProt:P13807 (IntAct) [UndirectedInteraction:11159173] UniProt:Q86T24 <-> UniProt:P13807 (IntAct) [UndirectedInteraction:11165743] UniProt:Q04446 <-> UniProt:P13807 (IntAct) [UndirectedInteraction:11193225] UniProt:P49841 <-> UniProt:P13807 (IntAct) [UndirectedInteraction:11242335] UniProt:O43474 <-> UniProt:P13807 (IntAct) [UndirectedInteraction:11259847] UniProt:Q9UQK1 <-> UniProt:P13807 (IntAct) [UndirectedInteraction:11279905] UniProt:P62136 <-> UniProt:P13807 (IntAct) [UndirectedInteraction:11307049] UniProt:P31273 <-> UniProt:P13807 (IntAct)