Reviewed,
UniProtKB/Swiss-Prot P13807 (GYS1_HUMAN)
Last modified
November 3, 2009.
Version 98.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Glycogen [starch] synthase, muscle EC=2.4.1.11 | ||||
| Gene names |
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| 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 | |
| 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 bindingInferred 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
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References
| « Hide '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 | |
|---|---|
| J04501 mRNA. Translation: AAA88046.1. Z33622 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 |
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| 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. | ||||||||
Relevant documents
| Human chromosome 19 Human chromosome 19: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PATHWAY comments Index of metabolic and biosynthesis pathways |
| SIMILARITY comments Index of protein domains and families |

Clusters with


