1. Gene
  2. GYS1 - glycogen synthase 1 Gene

GYS1 - glycogen synthase 1 Gene

中文名称:糖原合成酶 1

种属: Homo sapiens

同用名: GSY; GYS

基因 ID: 2997 | 基因类型: protein coding

关于 GYS1

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:48,968,130-48,993,309 (from NCBI)

This gene has 7 transcripts (splice variants), 197 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 40.6), fat (RPKM 17.3) and 23 other tissues.

功能概要

由该基因编码的蛋白质通过形成 α-1,4-糖苷键催化葡萄糖单体添加到生长的糖原分子中。该基因的突变与肌糖原贮积病有关。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2009 年 9 月]

The protein encoded by this gene catalyzes the addition of glucose monomers to the growing glycogen molecule through the formation of alpha-1,4-glycoside linkages. Mutations in this gene are associated with muscle glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

GYS1 基因产物(2)

mRNA Protein Name
NM_001161587.2 NP_001155059.1 glycogen [starch] synthase, muscle isoform 2
NM_002103.5 NP_002094.2 glycogen [starch] synthase, muscle isoform 1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity EXP
EXP: 通过实验结果推断
19699667 GOA
enables glycogen synthase activity, transferring glucose-1-phosphate EXP
EXP: 通过实验结果推断
21356517 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10481074 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

GYS1 蛋白结构

Glycogen_syn

Glycogen_syn: Glycogen synthase (31 - 662)

  • 0
  • 200
  • 400
  • 600
  • 737 a.a.
蛋白主名 其他名称

glycogen [starch] synthase, muscle

glycogen synthase 1 (muscle)

GYS1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra GYS1 P13807 PNMA5 Homo sapiens Q96PV4
Validated Y2H
32296183
Intra GYS1 P13807 PNMA5 Homo sapiens Q96PV4
Y2H Array
32296183
Intra GYS1 P13807 PNMA5 Homo sapiens Q96PV4
Y2H Prey Pooling
32296183
Intra GYS1 P13807 BEND7 Homo sapiens Q8N7W2-2
Validated Y2H
32296183
Intra GYS1 P13807 BEND7 Homo sapiens Q8N7W2-2
Y2H Array
32296183
Intra GYS1 P13807 BEND7 Homo sapiens Q8N7W2-2
Y2H Prey Pooling
32296183
Intra GYS1 P13807 ZNF774 Homo sapiens Q6NX45
Y2H Prey Pooling
32296183
Intra GYS1 P13807 ZNF774 Homo sapiens Q6NX45
Validated Y2H
32296183
Intra GYS1 P13807 ZNF774 Homo sapiens Q6NX45
Y2H Array
32296183
Intra GYS1 P13807 TLE5 Homo sapiens Q08117-2
Validated Y2H
32296183
Intra GYS1 P13807 TLE5 Homo sapiens Q08117-2
Y2H Prey Pooling
32296183
Intra GYS1 P13807 TLE5 Homo sapiens Q08117-2
Y2H Array
32296183
Intra GYS1 P13807 TFAP2D Homo sapiens Q7Z6R9
Validated Y2H
32296183
Intra GYS1 P13807 GYG1 Homo sapiens P46976-2
Validated Y2H
32296183
Intra GYS1 P13807 CLVS2 Homo sapiens Q5SYC1
Y2H Array
32296183
Intra GYS1 P13807 CLVS2 Homo sapiens Q5SYC1
Y2H Prey Pooling
32296183
Intra GYS1 P13807 CLVS2 Homo sapiens Q5SYC1
Validated Y2H
32296183
Intra GYS1 P13807 NDUFB7 Homo sapiens P17568
Y2H Prey Pooling
32296183
Intra GYS1 P13807 NDUFB7 Homo sapiens P17568
Validated Y2H
32296183
Intra GYS1 P13807 NDUFB7 Homo sapiens P17568
Y2H Array
32296183
Intra GYS1 P13807 FAM228A Homo sapiens Q86W67
Y2H Prey Pooling
32296183
Intra GYS1 P13807 FAM228A Homo sapiens Q86W67
Y2H Array
32296183
Intra GYS1 P13807 FAM228A Homo sapiens Q86W67
Validated Y2H
32296183
Intra GYS1 P13807 ZNF212 Homo sapiens Q9UDV6
Validated Y2H
32296183
Intra GYS1 P13807 ZNF212 Homo sapiens Q9UDV6
Y2H Array
32296183
Intra GYS1 P13807 ZNF212 Homo sapiens Q9UDV6
Y2H Prey Pooling
32296183
Intra GYS1 P13807 ZNF474 Homo sapiens Q6S9Z5
Y2H Prey Pooling
32296183
Intra GYS1 P13807 ZNF474 Homo sapiens Q6S9Z5
Validated Y2H
32296183
Intra GYS1 P13807 ZNF474 Homo sapiens Q6S9Z5
Y2H Array
32296183
Intra GYS1 P13807 HOXC8 Homo sapiens P31273
Validated Y2H
32296183
Intra GYS1 P13807 EFHC2 Homo sapiens Q5JST6
Y2H Prey Pooling
32296183
Intra GYS1 P13807 EFHC2 Homo sapiens Q5JST6
Validated Y2H
32296183
Intra GYS1 P13807 EFHC2 Homo sapiens Q5JST6
Y2H Array
32296183
Intra GYS1 P13807 ZBTB33 Homo sapiens Q86T24
Y2H Array
32296183
Intra GYS1 P13807 ZBTB33 Homo sapiens Q86T24
Y2H Prey Pooling
32296183
Intra GYS1 P13807 ZBTB33 Homo sapiens Q86T24
Validated Y2H
32296183
Intra GYS1 P13807 ZNF552 Homo sapiens Q9H707
Y2H Prey Pooling
32296183
Intra GYS1 P13807 ZNF552 Homo sapiens Q9H707
Validated Y2H
32296183
Intra GYS1 P13807 ZNF552 Homo sapiens Q9H707
Y2H Array
32296183
Intra GYS1 P13807 ZNF326 Homo sapiens Q5BKZ1
Validated Y2H
32296183
Intra GYS1 P13807 ZNF326 Homo sapiens Q5BKZ1
Y2H Prey Pooling
32296183
Intra GYS1 P13807 ZNF326 Homo sapiens Q5BKZ1
Y2H Array
32296183
Intra GYS1 P13807 PCYT1A Homo sapiens P49585
Y2H Prey Pooling
32296183
Intra GYS1 P13807 PCYT1A Homo sapiens P49585
Y2H Array
32296183
Intra GYS1 P13807 PCYT1A Homo sapiens P49585
Validated Y2H
32296183
Intra GYS1 P13807 MEOX1 Homo sapiens P50221
Validated Y2H
32296183
Intra GYS1 P13807 MEOX1 Homo sapiens P50221
Y2H Array
32296183
Intra GYS1 P13807 MEOX1 Homo sapiens P50221
Y2H Prey Pooling
32296183
Intra GYS1 P13807 PLAGL2 Homo sapiens Q9UPG8
Y2H Prey Pooling
32296183
Intra GYS1 P13807 PLAGL2 Homo sapiens Q9UPG8
Validated Y2H
32296183
Intra GYS1 P13807 PLAGL2 Homo sapiens Q9UPG8
Y2H Array
32296183
Intra GYS1 P13807 GSK3B Homo sapiens P49841
Protein Kinase Assay
24165324
Intra GYS1 P13807 ZNF620 Homo sapiens Q6ZNG0
Validated Y2H
32296183
Intra GYS1 P13807 ZNF620 Homo sapiens Q6ZNG0
Y2H Array
32296183
Intra GYS1 P13807 ZNF620 Homo sapiens Q6ZNG0
Y2H Prey Pooling
32296183
Intra GYS1 P13807 RBM48 Homo sapiens Q5RL73
Y2H Prey Pooling
32296183
Intra GYS1 P13807 RBM48 Homo sapiens Q5RL73
Y2H Array
32296183
Intra GYS1 P13807 RBM48 Homo sapiens Q5RL73
Validated Y2H
32296183
Intra GYS1 P13807 INCA1 Homo sapiens Q0VD86
Validated Y2H
32296183
Intra GYS1 P13807 INCA1 Homo sapiens Q0VD86
Y2H Array
32296183
Intra GYS1 P13807 INCA1 Homo sapiens Q0VD86
Y2H Prey Pooling
32296183
Intra GYS1 P13807 KATNBL1 Homo sapiens Q9H079
Y2H Array
32296183
Intra GYS1 P13807 KATNBL1 Homo sapiens Q9H079
Y2H Prey Pooling
32296183
Intra GYS1 P13807 KATNBL1 Homo sapiens Q9H079
Validated Y2H
32296183
Intra GYS1 P13807 PINX1 Homo sapiens Q96BK5
Y2H Prey Pooling
32296183
Intra GYS1 P13807 PINX1 Homo sapiens Q96BK5
Validated Y2H
32296183
Intra GYS1 P13807 PINX1 Homo sapiens Q96BK5
Y2H Array
32296183
Intra GYS1 P13807 KLF4 Homo sapiens O43474
Y2H Prey Pooling
32296183
Intra GYS1 P13807 KLF4 Homo sapiens O43474
Y2H Array
32296183
Intra GYS1 P13807 GYG1 Homo sapiens P46976
Y2H
17055998
Intra GYS1 P13807 GYG1 Homo sapiens P46976
Y2H Prey Pooling
25416956
Intra GYS1 P13807 GYG1 Homo sapiens P46976
Validated Y2H
25416956
Intra GYS1 P13807 GYG1 Homo sapiens P46976
Anti Bait CoIP
17055998
Intra GYS1 P13807 GYG1 Homo sapiens P46976
Anti Tag CoIP
35271311
Intra GYS1 P13807 SORBS3 Homo sapiens O60504
Y2H Array
32296183
Intra GYS1 P13807 SORBS3 Homo sapiens O60504
Y2H Prey Pooling
32296183
Intra GYS1 P13807 HOXB6 Homo sapiens P17509
Y2H Array
32296183
Intra GYS1 P13807 HOXB6 Homo sapiens P17509
Validated Y2H
32296183
Intra GYS1 P13807 HOXB6 Homo sapiens P17509
Y2H Prey Pooling
32296183
Intra GYS1 P13807 AIMP2 Homo sapiens Q13155
Y2H Array
25416956
Intra GYS1 P13807 CRX Homo sapiens O43186
Y2H Array
32296183
Intra GYS1 P13807 CRX Homo sapiens O43186
Y2H Prey Pooling
32296183
Intra GYS1 P13807 SNIP1 Homo sapiens Q8TAD8
Validated Y2H
32296183
Intra GYS1 P13807 SNIP1 Homo sapiens Q8TAD8
Y2H Array
32296183
Intra GYS1 P13807 SNIP1 Homo sapiens Q8TAD8
Y2H Prey Pooling
32296183
Intra GYS1 P13807 GYG2 Homo sapiens O15488
Anti Tag CoIP
35271311
Intra GYS1 P13807 GYG2 Homo sapiens O15488
Y2H Pooling
16189514
Intra GYS1 P13807 KLF1 Homo sapiens Q13351
Y2H Prey Pooling
32296183
Intra GYS1 P13807 KLF1 Homo sapiens Q13351
Y2H Array
32296183
Intra GYS1 P13807 KLF1 Homo sapiens Q13351
Validated Y2H
32296183
Intra GYS1 P13807 IHO1 Homo sapiens Q8IYA8
Validated Y2H
32296183
Intra GYS1 P13807 IHO1 Homo sapiens Q8IYA8
Y2H Array
32296183
Intra GYS1 P13807 IHO1 Homo sapiens Q8IYA8
Y2H Prey Pooling
25416956
Intra GYS1 P13807 IHO1 Homo sapiens Q8IYA8
Y2H Prey Pooling
32296183
Intra GYS1 P13807 CDCA8 Homo sapiens Q53HL2
Y2H Prey Pooling
32296183
Intra GYS1 P13807 CDCA8 Homo sapiens Q53HL2
Validated Y2H
32296183
Intra GYS1 P13807 CDCA8 Homo sapiens Q53HL2
Y2H Array
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Glycogen Storage Disease 0, Muscle

Muscle Glycogen Synthase Deficiency

Glycogen Storage Disease Due To Muscle And Heart Glycogen Synthase Deficiency

GSD0B

Muscle Glycogen Storage Disease 0

Gsd 0b

Glycogen Storage Disease Type 0, Muscle

Gsd Due To Muscle And Heart Glycogen Synthase Deficiency

Gsd Type 0b

Glycogen Storage Disease Type 0b

Glycogenosis Due To Muscle And Heart Glycogen Synthase Deficiency

Glycogenosis Type 0b

Storage Disease, Glycogen, Type 0, Muscle

Glycogen Storage Disease

Glycogenosis

Glycogenoses

Gsd

Storage Disease, Glycogen

Gsd - [Glycogen Storage Disease]

Glycogen Thesaurismosis

Diffuse Glycogenosis

Generalised Glycogen Storage Disease

Generalised Glycogenosis

Generalised Glycogen Storage Disease Of Infants

Glycogen Synthase Deficiency

Myoclonic Epilepsy Of Lafora

Lafora Disease

Epilepsy, Progressive Myoclonic 2b

EPM2

Melf

Epilepsy, Progressive Myoclonic 2a

Epm2a

Lafora'S Disease

Lafora Body Disease

Lbd

Epilepsy, Progressive Myoclonic, 2a

Lafora Progressive Myoclonic Epilepsy

Epilepsy Progressive Myoclonic 2

Lafora Body Disorder

Pme Type 2

Progressive Myoclonic Epilepsy Type 2

Progressive Myoclonus Epilepsy Type 2

Epilepsy, Progressive Myoclonic 2

Epm2b

Ld

Progressive Myoclonic Epilepsy 2

Progressive Myoclonic Epilepsy 2a

Progressive Myoclonic Epilepsy 2b

Progressive Myoclonic Epilepsy Lafora Type

Epilepsy, Myoclonic, Of Lafora

Hypoglycemia

Hypoglycaemia

Low Blood Sugar

Hypoglycaemia Nos

Spontaneous Hypoglycaemia

Nondiabetic Hypoglycaemia

Hypoglycaemic Disorder Nos

Hypoglycaemic Syndrome

Glycogen Storage Disease Type 0

Glycogen Synthase Deficiency

Glycogen Storage Disease 0

Glycogen Synthetase Deficiency

Gsd 0

Gsd Type 0

Hypoglycemia With Deficiency Of Glycogen Synthetase

Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

Glucose Intolerance

Glucose: Intolerance

Glucose: Malabsorption

Malabsorption Of Glucose

Impaired Glucose Tolerance

Hyperglycemia
Glycogen Storage Disease Iii

Glycogen Storage Disease Type Iii

Forbes Disease

Cori Disease

Glycogen Storage Disease Iiia

Amylo-1,6-Glucosidase Deficiency

Glycogen Storage Disease Iiib

Limit Dextrinosis

GSD3

Agl Deficiency

Glycogen Debrancher Deficiency

Gde Deficiency

Glycogen Storage Disease Iiic

Debrancher Deficiency

Glycogen Storage Disease Type 3

Glycogenosis Type Iii

Glycogen Storage Disease Iiid

Amylo 1,6 Glucosidase Deficiency

Deficiency Of Debranching Enzyme

Deficiency Of Dextrin

Glycogen Storage Disease, Type Iii

Glycogen Debranching Enzyme Deficiency

Cori'S Disease

Gsd Iii

Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency

Cori-Forbes Disease

Gsd Due To Glycogen Debranching Enzyme Deficiency

Gsd Type 3

Gsdiii

Glycogenosis Due To Glycogen Debranching Enzyme Deficiency

Glycogenosis Type 3

Glycogen Storage Disease 3

Glycogen Debranching Enzyme Deficiency

Gsd-Iii

Gsd Iiia

Gsd Iiib

Gsd Iiic

Gsd Iiid

Storage Disease, Glycogen, Type Iii

Hyperinsulinism

Hyperinsulinemia

Glycogen Storage Disease Vi

Glycogen Storage Disease Type Vi

Hers Disease

GSD6

Gsd Vi

Hepatic Glycogen Phosphorylase Deficiency

Phosphorylase Deficiency Glycogen-Storage Disease Of Liver

Hers' Disease

Glycogen Storage Disease Type 6

Glycogen Storage Disease 6

Gsd Type Vi

Glycogenosis Type Vi

Glycogen Storage Disease, Type Vi

Hepatophosphorylase Deficiency Glycogenosis

Liver Phosphorylase Deficiency Syndrome

Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency

Gsd Due To Liver Glycogen Phosphorylase Deficiency

Gsd Type 6

Glycogenosis Due To Liver Glycogen Phosphorylase Deficiency

Glycogenosis Type 6

Hepatic Phosphorylase Deficiency

Liver Glycogen Phosphorylase Deficiency

Her

Glycogen Storage Disease Vib

Gsd-Vi

Liver Phosphorylase Deficiency

Storage Disease, Glycogen, Type Vi

Progressive Myoclonus Epilepsy

Pme

Progressive Myoclonic Epilepsy

Myoclonic Epilepsies, Progressive

Unverricht-Lundborg Syndrome

Glycogen Storage Disease V

Mcardle Disease

Myophosphorylase Deficiency

Glycogen Storage Disease Type V

Muscle Glycogen Phosphorylase Deficiency

Pygm Deficiency

Gsd V

Glycogen Storage Disease, Type V

Glycogenosis Type V

Glycogen Storage Disease Type 5

GSD5

Pygmy

Mcardle'S Disease

Mcardle Type Glycogen Storage Disease

Gsd Type V

Pygmy, African

Gsdv

Gsd 5

Glycogenosis 5

Mcardle Syndrome

Muscle Phosphorylase Deficiency

Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency

Gsd Due To Muscle Glycogen Phosphorylase Deficiency

Gsd Type 5

Glycogenosis Due To Muscle Glycogen Phosphorylase Deficiency

Glycogenosis Type 5

Glycogen Storage Disease 5

Gsd-V

Mcardles Disease

Storage Disease, Glycogen, Type V

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Glycogen Storage Disease Ia

Von Gierke Disease

Glycogen Storage Disease Type I

Glycogen Storage Disease I

Hepatorenal Form Of Glycogen Storage Disease

Hepatorenal Glycogenosis

Glucose-6-Phosphatase Deficiency

Glycogen Storage Disease, Type I

Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ia

GSD1A

Gsd1

Von Gierke'S Disease

Glycogen Storage Disease Type 1a

Glycogen Storage Disease 1a

Glucose-6-Phosphate Transport Defect

Gsd Ia

Deficiency Of Glucose-6-Phosphatase

Glycogenosis Type I

Glucose-6-Phosphatase Deficiency Glycogen Storage Disease

Glycogenosis Type 1

Glucose-6-Phosphate Deficiency

Gsd I

Gsd Type I

G6p Deficiency Type 1a

Gsd Due To G6p Deficiency Type 1a

Gsd Due To G6p Deficiency Type Ia

Gsd Type 1a

Gsdia

Glycogen Storage Disease Due To G6p Deficiency Type Ia

Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type 1a

Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type Ia

Glycogenosis Type Ia

Gsd-Ia

Storage Disease, Glycogen, Type 1a

Glycogen Storage Disease Type Ia

Diabetes Mellitus

Diabetes

Myopathy

Muscular Diseases

Myopathies

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Canis familiaris GYS1 VGNC VGNC:41574
Felis catus GYS1 VGNC VGNC:67524
Macaca mulatta GYS1 VGNC VGNC:73334
Mus musculus GYS1 MGD MGI:101805
Rattus norvegicus GYS1 RGD RGD:1589798
Bos taurus GYS1 VGNC VGNC:29730