Reviewed, UniProtKB/Swiss-Prot P13807 (GYS1_HUMAN)

Names and origin

Protein names

Recommended name:
    Glycogen [starch] synthase, muscle
    EC=2.4.1.11

Gene names

Name:	GYS1
Synonyms:	GYS

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	737 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan.
Catalytic activity	UDP-glucose ((1->4)-alpha-D-glucosyl)(n) = UDP + ((1->4)-alpha-D-glucosyl)(n+1).
Enzyme regulation	Allosteric activation by glucose-6-phosphate. Phosphorylation reduces the activity towards UDP-glucose. 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.
Involvement in disease	Defects in GYS1 are the cause of muscle glycogen storage disease type 0 (GSD0b) [MIM:611556]; also known as muscle glycogen synthase deficiency. GSD0b is a metabolic disorder characterized by fasting hypoglycemia presenting in infancy or early childhood. The role of muscle glycogen is to provide critical energy during bursts of activity and sustained muscle work.
Sequence similarities	Belongs to the glycosyltransferase 3 family.

Ontologies

Keywords
Biological process	Glycogen biosynthesis
Coding sequence diversity	Polymorphism
Disease	Diabetes mellitus Disease mutation
Molecular function	Glycosyltransferase Transferase
PTM	Phosphoprotein
Technical term	Allosteric enzyme Complete proteome
Gene Ontology (GO)
Biological process	glycogen biosynthetic process Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	cytosol Ref.1 Inferred from Experiment. Source: Reactome
Molecular function	glycogen (starch) synthase activity Ref.1 Inferred from Experiment. Source: Reactome protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
GSK3B	P49841	1	EBI-963094,EBI-373586
GYG1	P46976	2	EBI-963094,EBI-740533
PRKAB1	Q9Y478	1	EBI-963094,EBI-719769
SIRT2	Q8IXJ6	1	EBI-963094,EBI-477232

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 737	737	Glycogen [starch] synthase, muscle		PRO_0000194763
Sites
	Binding site	39	1	UDP-glucose By similarity
Amino acid modifications
	Modified residue	8	1	Phosphoserine; by PKA By similarity
	Modified residue	11	1	Phosphoserine By similarity
	Modified residue	641	1	Phosphoserine Ref.7
	Modified residue	645	1	Phosphoserine Ref.7 Ref.6
	Modified residue	649	1	Phosphoserine Ref.7
	Modified residue	653	1	Phosphoserine By similarity
	Modified residue	657	1	Phosphoserine By similarity
	Modified residue	698	1	Phosphoserine By similarity
	Modified residue	710	1	Phosphoserine By similarity
	Modified residue	727	1	Phosphoserine Ref.6
	Modified residue	731	1	Phosphoserine Ref.6
Natural variations
	Natural variant	108	1	I → M: dbSNP rs5455.		VAR_037958
	Natural variant	130	1	K → E: dbSNP rs5456.		VAR_014727
	Natural variant	283	1	N → S: dbSNP rs5461.		VAR_014728
	Natural variant	359	1	E → G: dbSNP rs5465.		VAR_014729
	Natural variant	416	1	M → V: dbSNP rs5447.		VAR_014730
	Natural variant	464	1	G → S in NIDDM. Ref.2		VAR_007859
	Natural variant	619	1	E → Q: dbSNP rs5450.		VAR_014731
	Natural variant	691	1	P → A: dbSNP rs5453.		VAR_014732
Experimental info
	Sequence conflict	136	1	T → I Ref.1
	Sequence conflict	136	1	T → I Ref.3
	Sequence conflict	462	1	Missing in AAB60385. Ref.3
	Sequence conflict	608	1	A → D in AAB60385. Ref.3
	Sequence conflict	706	1	S → R Ref.1
	Sequence conflict	706	1	S → R Ref.3

Sequences

	Sequence		Length	Mass (Da)
	P13807-1 [UniParc]. Last modified February 1, 1996. Version 2. Checksum: 0E321BBFDEB0BD7F	FASTA	737	83,786
	10 20 30 40 50 60 MPLNRTLSMS SLPGLEDWED EFDLENAVLF EVAWEVANKV GGIYTVLQTK AKVTGDEWGD 70 80 90 100 110 120 NYFLVGPYTE QGVRTQVELL EAPTPALKRT LDSMNSKGCK VYFGRWLIEG GPLVVLLDVG 130 140 150 160 170 180 ASAWALERWK GELWDTCNIG VPWYDREAND AVLFGFLTTW FLGEFLAQSE EKPHVVAHFH 190 200 210 220 230 240 EWLAGVGLCL CRARRLPVAT IFTTHATLLG RYLCAGAVDF YNNLENFNVD KEAGERQIYH 250 260 270 280 290 300 RYCMERAAAH CAHVFTTVSQ ITAIEAQHLL KRKPDIVTPN GLNVKKFSAM HEFQNLHAQS 310 320 330 340 350 360 KARIQEFVRG HFYGHLDFNL DKTLYFFIAG RYEFSNKGAD VFLEALARLN YLLRVNGSEQ 370 380 390 400 410 420 TVVAFFIMPA RTNNFNVETL KGQAVRKQLW DTANTVKEKF GRKLYESLLV GSLPDMNKML 430 440 450 460 470 480 DKEDFTMMKR AIFATQRQSF PPVCTHNMLD DSSDPILTTI RRIGLFNSSA DRVKVIFHPE 490 500 510 520 530 540 FLSSTSPLLP VDYEEFVRGC HLGVFPSYYE PWGYTPAECT VMGIPSISTN LSGFGCFMEE 550 560 570 580 590 600 HIADPSAYGI YILDRRFRSL DDSCSQLTSF LYSFCQQSRR QRIIQRNRTE RLSDLLDWKY 610 620 630 640 650 660 LGRYYMSARH MALSKAFPEH FTYEPNEADA AQGYRYPRPA SVPPSPSLSR HSSPHQSEDE 670 680 690 700 710 720 EDPRNGPLEE DGERYDEDEE AAKDRRNIRA PEWPRRASCT SSTSGSKRNS VDTATSSSLS 730 TPSEPLSPTS SLGEERN

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Human muscle glycogen synthase cDNA sequence: a negatively charged protein with an asymmetric charge distribution." Browner M.F., Nakano K., Bang A.G., Fletterick R.J. Proc. Natl. Acad. Sci. U.S.A. 86:1443-1447(1989) [PubMed: 2493642] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Muscle.
[2]	"Isolation and characterization of the human muscle glycogen synthase gene." Orho M., Nikula-Ijas P., Schalin-Jantti C., Permutt M.A., Groop L.C. Diabetes 44:1099-1105(1995) [PubMed: 7657035] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT NIDDM SER-464.
[3]	"Cloning and characterization of a glycogen synthase cDNA from human endometrium." Su X., Schuler L., Shapiro S.S. J. Steroid Biochem. Mol. Biol. 59:459-465(1996) [PubMed: 9010351] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Endometrium.
[4]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Lymph and Skin.
[5]	"Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0." Kollberg G., Tulinius M., Gilljam T., Oestman-Smith I., Forsander G., Jotorp P., Oldfors A., Holme E. N. Engl. J. Med. 357:1507-1514(2007) [PubMed: 17928598] [Abstract] Cited for: INVOLVEMENT IN GSD0B.
[6]	"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-645; SER-727 AND SER-731, MASS SPECTROMETRY.
[7]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-641; SER-645 AND SER-649, MASS SPECTROMETRY.
[8]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	J04501 mRNA. Translation: AAA88046.1. Z33622 , Z33623, Z33609, Z33624, Z33625, Z33626, Z33610, Z33627, Z33628, Z33629, Z33630, Z33631, Z33633 Genomic DNA. Translation: CAA83916.1. U32573 mRNA. Translation: AAB60385.1. BC002617 mRNA. Translation: AAH02617.1. BC007688 mRNA. Translation: AAH07688.1.
IPI	IPI00303868.
PIR	A32156.
RefSeq	NP_001155059.1. NP_002094.2.
UniGene	Hs.386225 Hs.433670
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	P13807. 5 interactions.
STRING	P13807.
Protein family/group databases
CAZy	GT3. Glycosyltransferase Family 3.
PTM databases
PhosphoSite	P13807.
Proteomic databases
PRIDE	P13807.
Genome annotation databases
Ensembl	ENST00000263276; ENSP00000263276; ENSG00000104812; Homo sapiens. [Genome view] ENST00000323798; ENSP00000317904; ENSG00000104812; Homo sapiens. [Genome view] ENST00000457974; ENSP00000406810; ENSG00000104812; Homo sapiens. [Genome view]
GeneID	2997.
UCSC	uc002plp.1. human.
Organism-specific databases
CTD	2997.
GeneCards	GC19M054166.
HGNC	HGNC:4706. GYS1.
HPA	CAB007793.
MIM	138570. gene. 611556. phenotype.
Orphanet	137625. Cardiomyopathy-exercise intolerance due to muscle and heart glycogen deficiency.
PharmGKB	PA29084.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	P13807.
HOVERGEN	P13807.
OMA	FTTVSHI.
Enzyme and pathway databases
BioCyc	MetaCyc:MON-11742.
BRENDA	2.4.1.11. 247.
Pathway_Interaction_DB	insulin_glucose_pathway. Insulin-mediated glucose transport.
Reactome	REACT_474. Metabolism of carbohydrates.
Gene expression databases
ArrayExpress	P13807.
Bgee	P13807.
CleanEx	HS_GYS1.
Genevestigator	P13807.
GermOnline	ENSG00000104812. Homo sapiens.
Family and domain databases
InterPro	IPR008631. Glycogen_synth. [Graphical view]
PANTHER	PTHR10176. Glycogen_synth. 1 hit.
Pfam	PF05693. Glycogen_syn. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	11884.
SOURCE	Search...

Entry information

Entry name

GYS1_HUMAN

Accession

Primary (citable) accession number: P13807

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 1, 1990
Last sequence update:	February 1, 1996
Last modified:	November 3, 2009
This is version 98 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.