GYG1
Glycogenin-1
Also known as: GLYG_HUMAN, GYG
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P46976
- Gene
- GYG1
- Ensembl
- ENSG00000163754
- Chromosome
- 3
- Canonical length
- 350 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Vesicles
OverviewNCBI Gene
This gene encodes a member of the glycogenin family. Glycogenin is a glycosyltransferase that catalyzes the formation of a short glucose polymer from uridine diphosphate glucose in an autoglucosylation reaction. This reaction is followed by elongation and branching of the polymer, catalyzed by glycogen synthase and branching enzyme, to form glycogen. This gene is expressed in muscle and other tissues. Mutations in this gene result in glycogen storage disease XV. This gene has pseudogenes on chromosomes 1, 8 and 13 respectively. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]
Canonical amino-acid sequenceUniProt
350 residues, UniProt reviewed canonical sequence.
>P46976|GYG1
1 MTDQAFVTLT TNDAYAKGAL VLGSSLKQHR TTRRLVVLAT PQVSDSMRKV LETVFDEVIM
61 VDVLDSGDSA HLTLMKRPEL GVTLTKLHCW SLTQYSKCVF MDADTLVLAN IDDLFDREEL
121 SAAPDPGWPD CFNSGVFVYQ PSVETYNQLL HLASEQGSFD GGDQGILNTF FSSWATTDIR
181 KHLPFIYNLS SISIYSYLPA FKVFGASAKV VHFLGRVKPW NYTYDPKTKS VKSEAHDPNM
241 THPEFLILWW NIFTTNVLPL LQQFGLVKDT CSYVNVLSDL VYTLAFSCGF CRKEDVSGAI
301 SHLSLGEIPA MAQPFVSSEE RKERWEQGQA DYMGADSFDN IKRKLDTYLQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GYG1 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)
- 0.3
- Highest tissue expression
- 535 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 535 nTPM
- tongue: 334 nTPM
- bone marrow: 208 nTPM
- colon: 142 nTPM
- heart muscle: 110 nTPM
- testis: 108 nTPM
Single-cell type
- oocytes: 1,202 nCPM
- late spermatids: 618 nCPM
- late primary spermatocytes: 610 nCPM
- neutrophils: 609 nCPM
- neutrophil progenitors: 584 nCPM
- early spermatids: 206 nCPM
Immune cell
- MAIT T-cell: 73 nTPM
- non-classical monocyte: 68 nTPM
- myeloid DC: 64 nTPM
- intermediate monocyte: 60 nTPM
- classical monocyte: 58 nTPM
- total PBMC: 50 nTPM
Brain region
- hypothalamus: 57 nTPM
- midbrain: 47 nTPM
- pons: 46 nTPM
- white matter: 44 nTPM
- medulla oblongata: 41 nTPM
- spinal cord: 39 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GYG1.
Disease | AllUniProt
Conditions GYG1 is implicated in, by any mechanism.
- Glycogen storage disease 15 (GSD15) MIM:613507
- Polyglucosan body myopathy 2 (PGBM2) MIM:616199
Disease | GeneticClinVar
40 pathogenic / likely-pathogenic of 365 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Polyglucosan body myopathy type 2
- Glycogen storage disease XV
- Clear cell carcinoma of kidney
- GYG1-related disorder
- Glycogen storage disease
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)
- 1.41
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.06
- DepMap mean gene effect
- -0.16
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- glycogen biosynthetic process
- glycogen biosynthetic process via UDP-glucose
Molecular functions
- glycogenin glucosyltransferase activity
- glycosyltransferase activity
- manganese ion binding
- protein homodimerization activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GYG1 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 GYG1 as an antibody target. Whether an autoantibody or antibody against GYG1 could matter depends on whether native GYG1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GYG1 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 GYG1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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