Seroatlas · Human Serome Atlas

GYS1

Glycogen [starch] synthase, muscle

Also known as: GSY, GYS, GYS1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P13807
Gene
GYS1
Ensembl
ENSG00000104812
Chromosome
19
Canonical length
737 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Microtubules,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

737 residues, UniProt reviewed canonical sequence.

>P13807|GYS1
     1  MPLNRTLSMS SLPGLEDWED EFDLENAVLF EVAWEVANKV GGIYTVLQTK AKVTGDEWGD
    61  NYFLVGPYTE QGVRTQVELL EAPTPALKRT LDSMNSKGCK VYFGRWLIEG GPLVVLLDVG
   121  ASAWALERWK GELWDTCNIG VPWYDREAND AVLFGFLTTW FLGEFLAQSE EKPHVVAHFH
   181  EWLAGVGLCL CRARRLPVAT IFTTHATLLG RYLCAGAVDF YNNLENFNVD KEAGERQIYH
   241  RYCMERAAAH CAHVFTTVSQ ITAIEAQHLL KRKPDIVTPN GLNVKKFSAM HEFQNLHAQS
   301  KARIQEFVRG HFYGHLDFNL DKTLYFFIAG RYEFSNKGAD VFLEALARLN YLLRVNGSEQ
   361  TVVAFFIMPA RTNNFNVETL KGQAVRKQLW DTANTVKEKF GRKLYESLLV GSLPDMNKML
   421  DKEDFTMMKR AIFATQRQSF PPVCTHNMLD DSSDPILTTI RRIGLFNSSA DRVKVIFHPE
   481  FLSSTSPLLP VDYEEFVRGC HLGVFPSYYE PWGYTPAECT VMGIPSISTN LSGFGCFMEE
   541  HIADPSAYGI YILDRRFRSL DDSCSQLTSF LYSFCQQSRR QRIIQRNRTE RLSDLLDWKY
   601  LGRYYMSARH MALSKAFPEH FTYEPNEADA AQGYRYPRPA SVPPSPSLSR HSSPHQSEDE
   661  EDPRNGPLEE DGERYDEDEE AAKDRRNIRA PEWPRRASCT SSTSGSKRNS VDTATSSSLS
   721  TPSEPLSPTS SLGEERN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GYS1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.28
Highest tissue expression
299 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 299 nTPM
  • tongue: 188 nTPM
  • heart muscle: 112 nTPM
  • bone marrow: 44 nTPM
  • esophagus: 37 nTPM
  • adipose tissue: 31 nTPM

Single-cell type

  • myonuclei: 323 nCPM
  • neutrophil progenitors: 200 nCPM
  • cone photoreceptor cells: 162 nCPM
  • rod photoreceptor cells: 96 nCPM
  • prostatic hillock cells: 75 nCPM
  • adipocytes: 74 nCPM

Immune cell

  • myeloid DC: 13 nTPM
  • NK-cell: 11 nTPM
  • classical monocyte: 9.4 nTPM
  • MAIT T-cell: 8.6 nTPM
  • T-reg: 8.6 nTPM
  • non-classical monocyte: 8.1 nTPM

Brain region

  • cerebellum: 46 nTPM
  • cerebral cortex: 41 nTPM
  • medulla oblongata: 39 nTPM
  • choroid plexus: 39 nTPM
  • midbrain: 36 nTPM
  • thalamus: 35 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GYS1.

Disease | AllUniProt

Conditions GYS1 is implicated in, by any mechanism.

  • Muscle glycogen storage disease 0 (GSD0b) MIM:611556

Disease | GeneticClinVar

43 pathogenic / likely-pathogenic of 756 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.53
gnomAD pLI
0
gnomAD missense Z
1.84
DepMap mean gene effect
0.01
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of GYS1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GYS1 as an antibody target. Whether an autoantibody or antibody against GYS1 could matter depends on whether native GYS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GYS1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label GYS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GYS1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...