Reviewed, UniProtKB/Swiss-Prot P54840 (GYS2_HUMAN)

Names and origin

Protein names

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

Gene names

Name:

GYS2

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	703 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 GYS2 are the cause of glycogen storage disease type 0 (GSD0) [MIM:240600]; also known as liver glycogen synthase deficiency. GSD0 is a metabolic disorder characterized by fasting hypoglycemia presenting in infancy or early childhood and accompanied by high blood ketones and low alanine and lactate concentrations. Although feeding relieves symptoms, it often results in postprandial hyperglycemia and hyperlactatemia. Ref.2
Sequence similarities	Belongs to the glycosyltransferase 3 family.

Ontologies

Keywords
Biological process	Glycogen biosynthesis
Coding sequence diversity	Polymorphism
Disease	Disease mutation Glycogen storage disease
Molecular function	Glycosyltransferase Transferase
PTM	Phosphoprotein
Technical term	Allosteric enzyme Complete proteome
Gene Ontology (GO)
Biological process	glycogen biosynthetic process Inferred from direct assay. Source: UniProtKB response to glucose stimulus Inferred from sequence or structural similarity. Source: UniProtKB
Cellular component	cortical actin cytoskeleton Inferred from sequence or structural similarity. Source: UniProtKB cytosol Ref.2 Inferred from sequence or structural similarity. Source: UniProtKB ectoplasm Inferred from sequence or structural similarity. Source: UniProtKB insoluble fraction Inferred from sequence or structural similarity. Source: UniProtKB soluble fraction Inferred from sequence or structural similarity. Source: UniProtKB
Molecular function	glycogen (starch) synthase activity Ref.2 Inferred from direct assay. Source: UniProtKB protein homodimerization activity Ref.2 Traceable author statement. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 703	703	Glycogen [starch] synthase, liver		PRO_0000194768
Sites
	Binding site	40	1	UDP-glucose By similarity
Amino acid modifications
	Modified residue	6	1	Phosphoserine By similarity
	Modified residue	8	1	Phosphoserine; by PKA By similarity
	Modified residue	11	1	Phosphoserine By similarity
	Modified residue	626	1	Phosphothreonine By similarity
	Modified residue	641	1	Phosphoserine By similarity
	Modified residue	645	1	Phosphoserine By similarity
	Modified residue	649	1	Phosphoserine By similarity
	Modified residue	653	1	Phosphoserine By similarity
	Modified residue	657	1	Phosphoserine By similarity
Natural variations
	Natural variant	39	1	N → S in GSD0. Ref.2		VAR_007860
	Natural variant	193	1	A → T: dbSNP rs16924038.		VAR_055885
	Natural variant	339	1	A → P in GSD0. Ref.2		VAR_007861
	Natural variant	363	1	V → M: dbSNP rs2306180. Ref.4		VAR_058848
	Natural variant	415	1	D → E: dbSNP rs16924002.		VAR_055886
	Natural variant	446	1	H → D in GSD0. Ref.2		VAR_007862
	Natural variant	479	1	P → Q in GSD0. Ref.2		VAR_007863
	Natural variant	483	1	S → P in GSD0. Ref.2		VAR_007864
	Natural variant	491	1	M → R in GSD0. Ref.2		VAR_007865
Experimental info
	Sequence conflict	97	1	K → M in BAA06154. Ref.3
	Sequence conflict	178	1	Q → R in BAA06154. Ref.3
	Sequence conflict	186	1	I → V in BAA06154. Ref.3
	Sequence conflict	335 – 336	2	SN → FKT in BAA06154. Ref.3
	Sequence conflict	344	1	E → D in BAA06154. Ref.3
	Sequence conflict	441	1	P → A in BAA06154. Ref.3
	Sequence conflict	576 – 577	2	KQ → NM in BAA06154. Ref.3
	Sequence conflict	583	1	I → F in BAA06154. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	P54840-1 [UniParc]. Last modified October 1, 1996. Version 1. Checksum: 13E4856F934E340F	FASTA	703	80,957
	10 20 30 40 50 60 MLRGRSLSVT SLGGLPQWEV EELPVEELLL FEVAWEVTNK VGGIYTVIQT KAKTTADEWG 70 80 90 100 110 120 ENYFLIGPYF EHNMKTQVEQ CEPVNDAVRR AVDAMNKHGC QVHFGRWLIE GSPYVVLFDI 130 140 150 160 170 180 GYSAWNLDRW KGDLWEACSV GIPYHDREAN DMLIFGSLTA WFLKEVTDHA DGKYVVAQFH 190 200 210 220 230 240 EWQAGIGLIL SRARKLPIAT IFTTHATLLG RYLCAANIDF YNHLDKFNID KEAGERQIYH 250 260 270 280 290 300 RYCMERASVH CAHVFTTVSE ITAIEAEHML KRKPDVVTPN GLNVKKFSAV HEFQNLHAMY 310 320 330 340 350 360 KARIQDFVRG HFYGHLDFDL EKTLFLFIAG RYEFSNKGAD IFLESLSRLN FLLRMHKSDI 370 380 390 400 410 420 TVVVFFIMPA KTNNFNVETL KGQAVRKQLW DVAHSVKEKF GKKLYDALLR GEIPDLNDIL 430 440 450 460 470 480 DRDDLTIMKR AIFSTQRQSL PPVTTHNMID DSTDPILSTI RRIGLFNNRT DRVKVILHPE 490 500 510 520 530 540 FLSSTSPLLP MDYEEFVRGC HLGVFPSYYE PWGYTPAECT VMGIPSVTTN LSGFGCFMQE 550 560 570 580 590 600 HVADPTAYGI YIVDRRFRSP DDSCNQLTKF LYGFCKQSRR QRIIQRNRTE RLSDLLDWRY 610 620 630 640 650 660 LGRYYQHARH LTLSRAFPDK FHVELTSPPT TEGFKYPRPS SVPPSPSGSQ ASSPQSSDVE 670 680 690 700 DEVEDERYDE EEEAERDRLN IKSPFSLSHV PHGKKKLHGE YKN

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Primary structure of human liver glycogen synthase deduced by cDNA cloning." Nuttall F.Q., Gannon M.C., Bai G., Lee E.Y. Arch. Biochem. Biophys. 311:443-449(1994) [PubMed: 8203908] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Liver.
[2]	"Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0." Orho M., Bosshard N.U., Buist N.R.M., Gitzelmann R., Aynsley-Green A., Blumel P., Gannon M.C., Nuttall F.Q., Groop L.C. J. Clin. Invest. 102:507-515(1998) [PubMed: 9691087] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GSD0 SER-39; PRO-339; ASP-446; GLN-479; PRO-483 AND ARG-491.
[3]	"Human liver glycogen synthase cDNA." Nakabayashi H., Nakayama T. Submitted (JUL-1994) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Liver.
[4]	"The finished DNA sequence of human chromosome 12." Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A. Nature 440:346-351(2006) [PubMed: 16541075] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT MET-363.
[5]	"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].
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBLGenBankDDBJ	S70004 mRNA. Translation: AAB30886.1. AJ003087 , AJ003088, AJ003089, AJ003090, AJ003091, AJ003092, AJ003093, AJ003094, AJ003095, AJ003096, AJ003097, AJ003098, AJ003099, AJ003100, AJ003101, AJ003102 Genomic DNA. Translation: CAA05859.1. D29685 mRNA. Translation: BAA06154.1. AC006559 Genomic DNA. No translation available. AC010197 Genomic DNA. No translation available. AC022072 Genomic DNA. No translation available. BC126310 mRNA. Translation: AAI26311.1. BC126312 mRNA. Translation: AAI26313.1.
IPI	IPI00008867.
PIR	S45686.
RefSeq	NP_068776.2.
UniGene	Hs.82614
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	P54840.
Protein family/group databases
CAZy	GT3. Glycosyltransferase Family 3.
PTM databases
PhosphoSite	P54840.
Proteomic databases
PRIDE	P54840.
Genome annotation databases
Ensembl	ENST00000261195; ENSP00000261195; ENSG00000111713; Homo sapiens. [Genome view]
GeneID	2998.
KEGG	hsa:2998.
UCSC	uc001rfb.1. human.
Organism-specific databases
CTD	2998.
GeneCards	GC12M021580.
H-InvDB	HIX0036868.
HGNC	HGNC:4707. GYS2.
MIM	138571. gene. 240600. phenotype.
Orphanet	2089. Glycogen storage, 0 type.
PharmGKB	PA29085.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	P54840.
HOVERGEN	P54840.
Enzyme and pathway databases
BRENDA	2.4.1.11. 247.
Reactome	REACT_474. Metabolism of carbohydrates.
Gene expression databases
ArrayExpress	P54840.
Bgee	P54840.
CleanEx	HS_GYS2.
Genevestigator	P54840.
GermOnline	ENSG00000111713. 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	11888.
SOURCE	Search...

Entry information

Entry name

GYS2_HUMAN

Accession

Primary (citable) accession number: P54840
Secondary accession number(s): A0AVD8

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	October 1, 1996
Last modified:	October 13, 2009
This is version 83 of the entry and version 1 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.