Seroatlas · Human Serome Atlas

PYGM

Glycogen phosphorylase, muscle form

Also known as: GSD5, PYGM_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P11217
Gene
PYGM
Ensembl
ENSG00000068976
Chromosome
11
Canonical length
842 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Quaternary structure
Homotetramer

OverviewNCBI Gene

This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage disease of muscle. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]

Canonical amino-acid sequenceUniProt

842 residues, UniProt reviewed canonical sequence.

>P11217|PYGM
     1  MSRPLSDQEK RKQISVRGLA GVENVTELKK NFNRHLHFTL VKDRNVATPR DYYFALAHTV
    61  RDHLVGRWIR TQQHYYEKDP KRIYYLSLEF YMGRTLQNTM VNLALENACD EATYQLGLDM
   121  EELEEIEEDA GLGNGGLGRL AACFLDSMAT LGLAAYGYGI RYEFGIFNQK ISGGWQMEEA
   181  DDWLRYGNPW EKARPEFTLP VHFYGHVEHT SQGAKWVDTQ VVLAMPYDTP VPGYRNNVVN
   241  TMRLWSAKAP NDFNLKDFNV GGYIQAVLDR NLAENISRVL YPNDNFFEGK ELRLKQEYFV
   301  VAATLQDIIR RFKSSKFGCR DPVRTNFDAF PDKVAIQLND THPSLAIPEL MRILVDLERM
   361  DWDKAWDVTV RTCAYTNHTV LPEALERWPV HLLETLLPRH LQIIYEINQR FLNRVAAAFP
   421  GDVDRLRRMS LVEEGAVKRI NMAHLCIAGS HAVNGVARIH SEILKKTIFK DFYELEPHKF
   481  QNKTNGITPR RWLVLCNPGL AEVIAERIGE DFISDLDQLR KLLSFVDDEA FIRDVAKVKQ
   541  ENKLKFAAYL EREYKVHINP NSLFDIQVKR IHEYKRQLLN CLHVITLYNR IKREPNKFFV
   601  PRTVMIGGKA APGYHMAKMI IRLVTAIGDV VNHDPAVGDR LRVIFLENYR VSLAEKVIPA
   661  ADLSEQISTA GTEASGTGNM KFMLNGALTI GTMDGANVEM AEEAGEENFF IFGMRVEDVD
   721  KLDQRGYNAQ EYYDRIPELR QVIEQLSSGF FSPKQPDLFK DIVNMLMHHD RFKVFADYED
   781  YIKCQEKVSA LYKNPREWTR MVIRNIATSG KFSSDRTIAQ YAREIWGVEP SRQRLPAPDE
   841  AI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PYGM 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)
0.2
Highest tissue expression
7,933 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 7,933 nTPM
  • tongue: 3,357 nTPM
  • esophagus: 87 nTPM
  • heart muscle: 67 nTPM
  • salivary gland: 47 nTPM
  • basal ganglia: 35 nTPM

Single-cell type

  • myonuclei: 358 nCPM
  • late spermatids: 77 nCPM
  • thymic myoid cells: 53 nCPM
  • peritubular myoid cells: 50 nCPM
  • astrocytes: 40 nCPM
  • smooth muscle cells: 35 nCPM

Immune cell

  • basophil: 8.3 nTPM
  • NK-cell: 1.3 nTPM
  • naive B-cell: 1.1 nTPM
  • memory B-cell: 0.9 nTPM
  • gdT-cell: 0.2 nTPM
  • plasmacytoid DC: 0.2 nTPM

Brain region

  • cerebellum: 94 nTPM
  • medulla oblongata: 79 nTPM
  • thalamus: 76 nTPM
  • spinal cord: 73 nTPM
  • pons: 61 nTPM
  • white matter: 56 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PYGM.

Disease | AllUniProt

Conditions PYGM is implicated in, by any mechanism.

Disease | GeneticClinVar

296 pathogenic / likely-pathogenic of 1,588 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)
0.87
gnomAD pLI
0
gnomAD missense Z
0.05
DepMap mean gene effect
-0.21
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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 PYGM 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 PYGM as an antibody target. Whether an autoantibody or antibody against PYGM could matter depends on whether native PYGM is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PYGM 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 PYGM as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PYGM. 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).

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