GYS1

GENERAL INFORMATION

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Gene name

GYS1

Gene description

Glycogen synthase 1 (muscle)

Protein class

Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous cytoplasmic expression.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA041598 , CAB007793
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Heart muscle

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

GYS1 (HGNC Symbol)

Synonyms

GSY, GYS

Description

Glycogen synthase 1 (muscle) (HGNC Symbol)

Entrez gene summary

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]

Chromosome

19

Cytoband

q13.33

Chromosome location (bp)

48968125 - 48993310

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000104812 (version 78.38)

Entrez gene

2997

UniProt

P13807 (UniProt - Evidence at protein level)

neXtProt

NX_P13807

Antibodypedia

GYS1 antibodies


PROTEIN BROWSER

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ENST00000263276
 
ENST00000323798
 
ENST00000594220
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GYS1-001 ENSP00000317904
ENST00000323798
P13807
Show all »
Show » Show » 737 83.8 No 0
GYS1-006 ENSP00000263276
ENST00000263276
P13807
Show all »
Show » Show » 673 76.5 No 0
GYS1-007 ENSP00000470072
ENST00000594220
Show » Show » 113 13.2 No 0