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
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
17928598 Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0

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

N Engl J Med 2007
External Reference Information
External Reference
Gene Names
GYS1, GYS
Chain
chain:1-737
Other Identifiers
0003170152
00500+2.4.1.11
11719371_a_at
11751201_a_at
11753041_a_at
16874156
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
41598
7793
8038261
A_23_P208698
AAA88046
AAB60385
AAH02617
AAH03182
AAH07688
AC008687
AC026803
AC098792
BC002617
BC003182
BC007688
CAA83916
CAB007793
CCDS12747
CCDS54292
CH471177
EAW52424
ENSG00000104812
ENSP00000263276
ENSP00000317904
ENST00000263276
ENST00000323798
EntrezGene:2997
g4504232_3p_a_at
GE57509
GO:0003674
GO:0003824
GO:0004373
GO:0005515
GO:0005536
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005829
GO:0005975
GO:0005977
GO:0005978
GO:0006091
GO:0007507
GO:0008150
GO:0008152
GO:0009058
GO:0009744
GO:0009749
GO:0016020
GO:0016234
GO:0016740
GO:0016757
GO:0019899
GO:0019901
GO:0048856
GO:0061547
GYS1
GYS1-201
GYS1-202
HGNC:4706
HPA041598
ILMN_1711289
IPR008631
J04501
J04501_at
MIM:138570
MIM:611556
NM_001161587
NM_002103
NP_001155059
NP_002094
NR_027763
PF05693
PH_hs_0024385
TC19001703.hg
TC19002540.hg
U32573
uc002plp.4
uc010emm.4
UPI0000000C44
UPI000007098C
Z33609
Z33610
Z33622
Z33623
Z33624
Z33625
Z33626
Z33627
Z33628
Z33629
Z33630
Z33631
Z33633
Participant Of
Other forms of this molecule
Disease
Name Identifier Synonyms
glycogen storage disease 2747 glycogenosis
Cross References
OpenTargets
GeneCards
ZINC - Substances
ZINC target
PRO
BRENDA (Homo sapiens)
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein