GYS1 (glycogen synthase 1)

Gene

• Entrez ID: 2997
• Gene name: Glycogen synthase 1
• Gene symbol: GYS1
• Synonyms: GSY, GYS
• Chromosome: 19
• Chromosome location: 19q13.33
• Summary: The protein encoded by this gene catalyzes the addition of glucose monomers to the growing glycogen molecule through the formation of alpha-1,4-glycoside linkages. Mutations in this gene are associated with muscle glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434584	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs561646250	C>A,G,T	Uncertain-significance, benign, likely-benign, pathogenic	Stop gained, non coding transcript variant, missense variant, coding sequence variant
rs587777375	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs775324036	->T	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1568619900	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001626	hsa-let-7b-5p	pSILAC, Proteomics;Other	18668040
MIRT003080	hsa-miR-122-5p	qRT-PCR, Western blot, Northern blot	18073344
MIRT003080	hsa-miR-122-5p	Microarray	17612493
MIRT028992	hsa-miR-26b-5p	Microarray	19088304
MIRT718488	hsa-miR-516b-5p	HITS-CLIP	19536157
MIRT718489	hsa-miR-3191-5p	HITS-CLIP	19536157
MIRT718490	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT718491	hsa-miR-7111-3p	HITS-CLIP	19536157
MIRT718492	hsa-miR-6081	HITS-CLIP	19536157
MIRT718493	hsa-miR-324-5p	HITS-CLIP	19536157
MIRT718494	hsa-miR-20a-3p	HITS-CLIP	19536157
MIRT718495	hsa-miR-6824-3p	HITS-CLIP	19536157
MIRT718496	hsa-miR-6764-3p	HITS-CLIP	19536157
MIRT718497	hsa-miR-330-5p	HITS-CLIP	19536157
MIRT718498	hsa-miR-326	HITS-CLIP	19536157
MIRT718499	hsa-miR-518c-5p	HITS-CLIP	19536157
MIRT718500	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT718501	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT718502	hsa-miR-6769b-3p	HITS-CLIP	19536157
MIRT718503	hsa-miR-4723-3p	HITS-CLIP	19536157
MIRT718504	hsa-miR-3183	HITS-CLIP	19536157
MIRT718505	hsa-miR-2276-5p	HITS-CLIP	19536157
MIRT718506	hsa-miR-5196-3p	HITS-CLIP	19536157
MIRT727518	hsa-miR-27a-3p	HITS-CLIP	22473208
MIRT727519	hsa-miR-27b-3p	HITS-CLIP	22473208

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004373	Function	Glycogen (starch) synthase activity	EXP	19699667
GO:0004373	Function	Glycogen (starch) synthase activity	IBA	21873635
GO:0004373	Function	Glycogen (starch) synthase activity	IDA	16275910
GO:0005515	Function	Protein binding	IPI	10481074, 16189514, 16282323, 17055998, 24165324, 25416956, 28330616, 28514442, 32296183
GO:0005536	Function	Glucose binding	IEA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0005978	Process	Glycogen biosynthetic process	IBA	21873635
GO:0005978	Process	Glycogen biosynthetic process	IDA	16275910
GO:0005978	Process	Glycogen biosynthetic process	IEA
GO:0005978	Process	Glycogen biosynthetic process	TAS
GO:0007507	Process	Heart development	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016234	Component	Inclusion body	IEA
GO:0019901	Function	Protein kinase binding	IPI	16275910
GO:0061547	Function	Glycogen synthase activity, transferring glucose-1-phosphate	EXP	21356517

Other IDs

• MIM: 138570
• HGNC: 4706
• e!Ensembl: ENSG00000104812

Protein

• UniProt ID: P13807
• Protein name: Glycogen [starch] synthase, muscle (EC 2.4.1.11)
• Protein function: Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05693	Glycogen_syn	31 → 663	Glycogen synthase	Family

• Sequence:

  MPLNRTLSMSSLPGLEDWEDEFDLENAVLFEVAWEVANKVGGIYTVLQTKAKVTGDEWGD
  NYFLVGPYTEQGVRTQVELLEAPTPALKRTLDSMNSKGCKVYFGRWLIEGGPLVVLLDVG
  ASAWALERWKGELWDTCNIGVPWYDREANDAVLFGFLTTWFLGEFLAQSEEKPHVVAHFH
  EWLAGVGLCLCRARRLPVATIFTTHATLLGRYLCAGAVDFYNNLENFNVDKEAGERQIYH
  RYCMERAAAHCAHVFTTVSQITAIEAQHLLKRKPDIVTPNGLNVKKFSAMHEFQNLHAQS
  KARIQEFVRGHFYGHLDFNLDKTLYFFIAGRYEFSNKGADVFLEALARLNYLLRVNGSEQ
  TVVAFFIMPARTNNFNVETLKGQAVRKQLWDTANTVKEKFGRKLYESLLVGSLPDMNKML
  DKEDFTMMKRAIFATQRQSFPPVCTHNMLDDSSDPILTTIRRIGLFNSSADRVKVIFHPE
  FLSSTSPLLPVDYEEFVRGCHLGVFPSYYEPWGYTPAECTVMGIPSISTNLSGFGCFMEE
  HIADPSAYGIYILDRRFRSLDDSCSQLTSFLYSFCQQSRRQRIIQRNRTERLSDLLDWKY
  LGRYYMSARHMALSKAFPEHFTYEPNEADAAQGYRYPRPASVPPSPSLSRHSSPHQSEDE
  EDPRNGPLEEDGERYDEDEEAAKDRRNIRAPEWPRRASCTSSTSGSKRNSVDTATSSSLS
  TPSEPLSPTSSLGEERN

• Sequence length: 737

Pathways

KEGG:

Starch and sucrose metabolism
Metabolic pathways
PI3K-Akt signaling pathway
AMPK signaling pathway
Insulin signaling pathway
Glucagon signaling pathway
Insulin resistance

Reactome:

Glycogen synthesis
Myoclonic epilepsy of Lafora
Glycogen storage disease type XV (GYG1)
Glycogen storage disease type 0 (muscle GYS1)

Associated diseases

Disease name	Disease term	References
	Cardiomyopathies
	Glycogen Storage Disease
	Glycogen Storage Disease 0, Muscle	17928598, 21958591, 24579562
	Glycogen storage disease due to muscle and heart glycogen synthase deficiency
	Left Ventricular Hypertrophy
	Tonic - clonic seizures
	Cerebrovascular accident