GYS1 R462* [cytosol]

Stable Identifier
R-HSA-3828056
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
glycogen synthase 1 R462*, Glycogen (starch) synthase, muscle R462X
GYS1 R462* [cytosol] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
17928598 Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0

Tulinius, M, Ostman-Smith, I, Gilljam, T, Holme, E, Oldfors, A, Jotorp, P, Forsander, G, Kollberg, G

N Engl J Med 2007
External Reference Information
External Reference
Gene Names
GYS1, GYS
Chain
chain:1-737
Other Identifiers
11719371_a_at
11751201_a_at
11753041_a_at
16874156
201673_PM_s_at
201673_s_at
2997
37299_at
3867539
3867540
3867541
3867542
3867543
3867545
3867547
3867549
3867550
3867551
3867552
3867556
3867557
3867558
3867559
3867560
3867562
3867565
3867567
3867568
3867569
8038261
A_23_P208698
GE57509
GO:0003824
GO:0004373
GO:0005515
GO:0005536
GO:0005737
GO:0005829
GO:0005975
GO:0005977
GO:0005978
GO:0006091
GO:0007507
GO:0008152
GO:0016020
GO:0016234
GO:0016740
GO:0016757
GO:0048856
GO:0061547
HMNXSV003035361
ILMN_1711289
J04501_at
PH_hs_0024385
TC19001703.hg
TC19002540.hg
g4504232_3p_a_at
Participates
Other forms of this molecule
Modified Residues
Name
Nonsense mutation at L-arginine 462
Coordinate
462
PsiMod
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
glycogen storage disease DOID:2747 glycogenosis
Cross References
OpenTargets
ZINC - Substances
ZINC target
PRO
IntEnz
GeneCards
Pharos - Targets
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein
Interactors (7)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P62136 PPP1CA  1 0.807 6
 UniProt:P49841 GSK3B  4 0.73 4
 UniProt:Q9UQK1 PPP1R3C  2 0.669 3
 UniProt:P13569 CFTR  17 0.615 5
 UniProt:P31273 HOXC8  1 0.556 3
 UniProt:O43474 KLF4  1 0.556 5
 UniProt:Q04446 GBE1  3 0.527 2
Cite Us!