Reactome | GYS1 R462* [cytosol]

GYS1 R462* [cytosol]

Stable Identifier

R-HSA-3828056

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

glycogen synthase 1 R462*, Glycogen (starch) synthase, muscle R462X

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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

UniProt:P13807 GYS1

Gene Names

GYS1, GYS

Chain

chain:1-737

Reference Genes

BioGPS Gene:2997 GYS1

COSMIC (genes):GYS1 GYS1

CTD Gene:2997 GYS1

dbSNP Gene:2997 GYS1

ENSEMBL:ENSG00000104812 GYS1

ENSEMBL_homo_sapiens_GENE:ENSG00000104812.15 GYS1

HGNC:4706 GYS1

KEGG Gene (Homo sapiens):2997 GYS1

Monarch:2997 GYS1

NCBI Gene:2997 GYS1

OMIM:138570 GYS1

UCSC:P13807 GYS1

Reference Transcript

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

as a component of

oligoGlc-GYG1:GYS1 R462* tetramer [cytosol] (Homo sapiens)

Other forms of this molecule

p-S-GYS1 [cytosol]

GYS1 [cytosol]

Modified Residues

Name

Nonsense mutation at L-arginine 462

Coordinate

462

PsiMod

L-arginine removal [MOD:01632]

A protein modification that effectively removes or replaces an L-arginine.

Disease

Name	Identifier	Synonyms
glycogen storage disease	DOID:2747	glycogenosis

Cross References

RefSeq

NP_002094.2, NP_001155059.1

OpenTargets

ENSG00000104812

ZINC - Substances

GYS1_HUMAN

ZINC target

P13807

PRO

P13807

PDB

7Q0S, 7Q12, 8CVY, 7Q13, 8CVZ, 8CVX, 7ZBN, 7Q0B

IntEnz

2.4.1.11

GeneCards

P13807

HPA

ENSG00000104812-GYS1

Ensembl

ENST00000323798, ENST00000263276, ENSP00000317904, ENSP00000263276, ENSG00000104812

Pharos - Targets

P13807

ZINC - Predictions - Purchasable

GYS1_HUMAN

Orphanet

17469

HMDB Protein

HMDBP01094

Interactors (6)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P62136 PPP1CA	1	PPP1CA [cytosol] (R-HSA-163525)	0.75	5
UniProt:P49841 GSK3B	4	GSK3B del304-316 [cytosol] (R-HSA-5339682) GSK3B [nucleoplasm] (R-HSA-2022823) p-S9-GSK3B [cytosol] (R-HSA-3149577) GSK3B [cytosol] (R-HSA-2997551)	0.73	4
UniProt:P13569 CFTR	17	PolyUb-CFTR [clathrin-coated endocytic vesicle membrane] (R-HSA-8869104) PolyUb-CFTR [plasma membrane] (R-HSA-8867595) CFTR [lysosomal membrane] (R-HSA-5627279) CFTR [Golgi-associated vesicle membrane] (R-HSA-5627079) CFTR [endosome membrane] (R-HSA-6782965) PolyUb-CFTR [endosome membrane] (R-HSA-6782976) CFTR F508del [endoplasmic reticulum membrane] (R-HSA-8866834) ub-CFTR F508del [cytosol] (R-HSA-8866838) ub-CFTR F508del [endoplasmic reticulum membrane] (R-HSA-8866842) CFTR G542* [plasma membrane] (R-HSA-5678986) CFTR G551D [plasma membrane] (R-HSA-5678977) CFTR W1282* [plasma membrane] (R-HSA-5678976) CFTR F508del [plasma membrane] (R-HSA-5678978) CFTR N1303K [plasma membrane] (R-HSA-5678983) CFTR [plasma membrane] (R-HSA-383188) CFTR [endoplasmic reticulum membrane] (R-HSA-8866837) misfolded CFTR [endoplasmic reticulum membrane] (R-HSA-8868730)	0.615	5
UniProt:Q9UQK1 PPP1R3C	2	K48polyUb-PPP1R3C [cytosol] (R-HSA-3781005) PPP1R3C [cytosol] (R-HSA-3777102)	0.564	2
UniProt:P31273 HOXC8	1	HOXC8 [nucleoplasm] (R-HSA-3222311)	0.556	3
UniProt:O43474 KLF4	1	KLF4 [nucleoplasm] (R-HSA-434463)	0.556	5