Human Gene GYS1 (ENST00000323798.8_7) from GENCODE V47lift37
  Description: glycogen synthase 1, transcript variant 3 (from RefSeq NR_027763.2)
Gencode Transcript: ENST00000323798.8_7
Gencode Gene: ENSG00000104812.15_10
Transcript (Including UTRs)
   Position: hg19 chr19:49,471,387-49,496,566 Size: 25,180 Total Exon Count: 16 Strand: -
Coding Region
   Position: hg19 chr19:49,472,545-49,496,369 Size: 23,825 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:49,471,387-49,496,566)mRNA (may differ from genome)Protein (737 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GYS1_HUMAN
DESCRIPTION: RecName: Full=Glycogen [starch] synthase, muscle; EC=2.4.1.11;
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.
SUBUNIT: Interacts with GYG1.
INTERACTION: P46976:GYG1; NbExp=4; IntAct=EBI-740553, EBI-740533;
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 PASK, leading to inactivation; phosphorylation by PASK is inhibited by glycogen. Dephosphorylation at Ser-641 and Ser-645 by PP1 activates the enzyme.
DISEASE: Defects in GYS1 are the cause of muscle glycogen storage disease type 0 (GSD0b) [MIM:611556]; 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.
SIMILARITY: Belongs to the glycosyltransferase 3 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GYS1
Diseases sorted by gene-association score: glycogen storage disease 0, muscle* (1350), glycogen storage disease (15), fasting hypoglycemia (11), glycogen storage disease type 0 (10), brain germinoma (9), gorham's disease (9), diabetes mellitus, noninsulin-dependent (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 78.18 RPKM in Muscle - Skeletal
Total median expression: 853.20 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -78.10197-0.396 Picture PostScript Text
3' UTR -452.801158-0.391 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008631 - Glycogen_synth

Pfam Domains:
PF05693 - Glycogen synthase
PF08323 - Starch synthase catalytic domain
PF13439 - Glycosyltransferase Family 4

SCOP Domains:
53756 - UDP-Glycosyltransferase/glycogen phosphorylase

ModBase Predicted Comparative 3D Structure on P13807
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0004373 glycogen (starch) synthase activity
GO:0005515 protein binding
GO:0005536 glucose binding
GO:0016740 transferase activity
GO:0016757 transferase activity, transferring glycosyl groups
GO:0019901 protein kinase binding
GO:0061547 glycogen synthase activity, transferring glucose-1-phosphate

Biological Process:
GO:0005977 glycogen metabolic process
GO:0005978 glycogen biosynthetic process
GO:0007507 heart development
GO:0008152 metabolic process

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016020 membrane
GO:0016234 inclusion body


-  Descriptions from all associated GenBank mRNAs
  BC007688 - Homo sapiens glycogen synthase 1 (muscle), mRNA (cDNA clone MGC:10463 IMAGE:3953692), complete cds.
BC002617 - Homo sapiens glycogen synthase 1 (muscle), mRNA (cDNA clone MGC:2986 IMAGE:3143019), complete cds.
BC003182 - Homo sapiens glycogen synthase 1 (muscle), mRNA (cDNA clone MGC:4430 IMAGE:2958297), complete cds.
U32573 - Homo sapiens UDP glucose:glycogen 4-alpha-D- glycosytransferase mRNA, complete cds.
J04501 - Human muscle glycogen synthase mRNA, complete cds.
JD235976 - Sequence 217000 from Patent EP1572962.
JD490305 - Sequence 471329 from Patent EP1572962.
JD061180 - Sequence 42204 from Patent EP1572962.
JD252878 - Sequence 233902 from Patent EP1572962.
JD122972 - Sequence 103996 from Patent EP1572962.
JD456750 - Sequence 437774 from Patent EP1572962.
JD465436 - Sequence 446460 from Patent EP1572962.
JD357907 - Sequence 338931 from Patent EP1572962.
JD171591 - Sequence 152615 from Patent EP1572962.
JD448637 - Sequence 429661 from Patent EP1572962.
JD289458 - Sequence 270482 from Patent EP1572962.
JD298133 - Sequence 279157 from Patent EP1572962.
JD403884 - Sequence 384908 from Patent EP1572962.
JD256170 - Sequence 237194 from Patent EP1572962.
JD354387 - Sequence 335411 from Patent EP1572962.
JD158082 - Sequence 139106 from Patent EP1572962.
JD318965 - Sequence 299989 from Patent EP1572962.
JD061766 - Sequence 42790 from Patent EP1572962.
JD251454 - Sequence 232478 from Patent EP1572962.
JD126964 - Sequence 107988 from Patent EP1572962.
JD455465 - Sequence 436489 from Patent EP1572962.
AK291672 - Homo sapiens cDNA FLJ76881 complete cds, highly similar to Homo sapiens glycogen synthase 1 (muscle) (GYS1), mRNA.
JD182822 - Sequence 163846 from Patent EP1572962.
JD186620 - Sequence 167644 from Patent EP1572962.
JD081874 - Sequence 62898 from Patent EP1572962.
JD327505 - Sequence 308529 from Patent EP1572962.
JD408365 - Sequence 389389 from Patent EP1572962.
JD358252 - Sequence 339276 from Patent EP1572962.
AK302738 - Homo sapiens cDNA FLJ53681 complete cds, highly similar to Glycogen (starch) synthase, muscle (EC 2.4.1.11).
JD209434 - Sequence 190458 from Patent EP1572962.
JD163517 - Sequence 144541 from Patent EP1572962.
JD360414 - Sequence 341438 from Patent EP1572962.
AK223579 - Homo sapiens mRNA for glycogen synthase 1 (muscle) variant, clone: FCC129G12.
AK294349 - Homo sapiens cDNA FLJ59500 complete cds, highly similar to Glycogen (starch) synthase, muscle (EC 2.4.1.11).
JD389905 - Sequence 370929 from Patent EP1572962.
AK300369 - Homo sapiens cDNA FLJ54059 complete cds, highly similar to Glycogen (starch) synthase, muscle (EC 2.4.1.11).
JD079790 - Sequence 60814 from Patent EP1572962.
JD236438 - Sequence 217462 from Patent EP1572962.
KJ905769 - Synthetic construct Homo sapiens clone ccsbBroadEn_15439 GYS1 gene, encodes complete protein.
AB590881 - Synthetic construct DNA, clone: pFN21AE2074, Homo sapiens GYS1 gene for glycogen synthase 1, without stop codon, in Flexi system.
JD369852 - Sequence 350876 from Patent EP1572962.
AK303712 - Homo sapiens cDNA FLJ54044 complete cds, highly similar to Glycogen (starch) synthase, muscle (EC 2.4.1.11).
CU678426 - Synthetic construct Homo sapiens gateway clone IMAGE:100017767 5' read GYS1 mRNA.
CU675761 - Synthetic construct Homo sapiens gateway clone IMAGE:100017477 5' read GYS1 mRNA.
JD383360 - Sequence 364384 from Patent EP1572962.
JD554969 - Sequence 535993 from Patent EP1572962.
JD357988 - Sequence 339012 from Patent EP1572962.
JD143339 - Sequence 124363 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-5067 - glycogen biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein P13807 (Reactome details) participates in the following event(s):

R-HSA-3322001 GYS1 catalyzes the polyglucosylation of oligoGlc-GYG1
R-HSA-3322025 Autoglucosylation of GYG1 complexed with GYS1-a
R-HSA-3322005 GBE1 catalyzes branch formation in polyGlc-GYG1 complexed with GYS1-a
R-HSA-3781023 PPP1R3C binds to glycogen:GYG1:GYS1
R-HSA-3781001 EPM2A dimer binds PPP1R3C:phosphoglycogen-GYG1 complex
R-HSA-3781024 GYS1 catalyzes the incorporation of phosphoglucose into glycogen-GYG1
R-HSA-3781018 EPM2A dimer dephosphorylates phosphoglycogen-GYG1
R-HSA-3322057 GBE1 catalyzes branch formation in polyGlc-GYG1 complexed with GYS1-b
R-HSA-3322041 Phosphorylated GYS1 catalyzes the polyglucosylation of oligoGlc-GYG1
R-HSA-3322003 Autoglucosylation of GYG1 complexed with GYS1-b
R-HSA-3322077 Glycogen synthesis
R-HSA-3828062 Glycogen storage disease type 0 (muscle GYS1)
R-HSA-3814836 Glycogen storage disease type XV (GYG1)
R-HSA-3785653 Myoclonic epilepsy of Lafora
R-HSA-8982491 Glycogen metabolism
R-HSA-3229121 Glycogen storage diseases
R-HSA-71387 Metabolism of carbohydrates
R-HSA-5663084 Diseases of carbohydrate metabolism
R-HSA-1430728 Metabolism
R-HSA-5668914 Diseases of metabolism
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000323798.1, ENST00000323798.2, ENST00000323798.3, ENST00000323798.4, ENST00000323798.5, ENST00000323798.6, ENST00000323798.7, GYS, GYS1 , GYS1_HUMAN, NR_027763, P13807, Q9BTT9, uc317rnm.1, uc317rnm.2
UCSC ID: ENST00000323798.8_7
RefSeq Accession: NM_002103.5
Protein: P13807 (aka GYS1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.