PGM3
Phosphoacetylglucosamine mutase
Also known as: AGM1, AGM1_HUMAN, DKFZP434B187, PAGM
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O95394
- Gene
- PGM3
- Ensembl
- ENSG00000013375
- Chromosome
- 6
- Canonical length
- 542 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI Gene
This gene encodes a member of the phosphohexose mutase family. The encoded protein mediates both glycogen formation and utilization by catalyzing the interconversion of glucose-1-phosphate and glucose-6-phosphate. A non-synonymous single nucleotide polymorphism in this gene may play a role in resistance to diabetic nephropathy and neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
Canonical amino-acid sequenceUniProt
542 residues, UniProt reviewed canonical sequence.
>O95394|PGM3
1 MDLGAITKYS ALHAKPNGLI LQYGTAGFRT KAEHLDHVMF RMGLLAVLRS KQTKSTIGVM
61 VTASHNPEED NGVKLVDPLG EMLAPSWEEH ATCLANAEEQ DMQRVLIDIS EKEAVNLQQD
121 AFVVIGRDTR PSSEKLSQSV IDGVTVLGGQ FHDYGLLTTP QLHYMVYCRN TGGRYGKATI
181 EGYYQKLSKA FVELTKQASC SGDEYRSLKV DCANGIGALK LREMEHYFSQ GLSVQLFNDG
241 SKGKLNHLCG ADFVKSHQKP PQGMEIKSNE RCCSFDGDAD RIVYYYHDAD GHFHLIDGDK
301 IATLISSFLK ELLVEIGESL NIGVVQTAYA NGSSTRYLEE VMKVPVYCTK TGVKHLHHKA
361 QEFDIGVYFE ANGHGTALFS TAVEMKIKQS AEQLEDKKRK AAKMLENIID LFNQAAGDAI
421 SDMLVIEAIL ALKGLTVQQW DALYTDLPNR QLKVQVADRR VISTTDAERQ AVTPPGLQEA
481 INDLVKKYKL SRAFVRPSGT EDVVRVYAEA DSQESADHLA HEVSLAVFQL AGGIGERPQP
541 GFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PGM3 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
- 41 nTPM
Expression across tissuesHPA
Tissue
- pancreas: 41 nTPM
- prostate: 35 nTPM
- placenta: 32 nTPM
- liver: 28 nTPM
- pituitary gland: 22 nTPM
- salivary gland: 21 nTPM
Single-cell type
- pancreatic acinar cells: 162 nCPM
- epicardial cells: 148 nCPM
- prostatic glandular cells: 144 nCPM
- cardiomyocytes: 138 nCPM
- late primary spermatocytes: 131 nCPM
- somatotrophs: 121 nCPM
Immune cell
- basophil: 4.9 nTPM
- memory B-cell: 2.2 nTPM
- naive CD4 T-cell: 2.1 nTPM
- plasmacytoid DC: 2.1 nTPM
- naive CD8 T-cell: 2 nTPM
- non-classical monocyte: 1.9 nTPM
Brain region
- choroid plexus: 19 nTPM
- cerebellum: 16 nTPM
- white matter: 15 nTPM
- basal ganglia: 14 nTPM
- midbrain: 13 nTPM
- pons: 13 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PGM3.
Disease | AllUniProt
Conditions PGM3 is implicated in, by any mechanism.
- Immunodeficiency 23 (IMD23) MIM:615816
Disease | GeneticClinVar
69 pathogenic / likely-pathogenic of 629 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Immunodeficiency 23
- Severe combined immunodeficiency disease
- Hyper-IgE syndrome
- PGM3-related disorder
- Inborn genetic diseases
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)
- 0.65
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.51
- DepMap mean gene effect
- -0.28
- DepMap dependency class
- selective
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
- carbohydrate metabolic process
- hemopoiesis
- protein N-linked glycosylation
- protein O-linked glycosylation
- spermatogenesis
- UDP-N-acetylglucosamine biosynthetic process
- glucosamine metabolic process
Molecular functions
- magnesium ion binding
- phosphoacetylglucosamine mutase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Alpha-D-phosphohexomutase, alpha/beta/alpha domain I
- Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III
- Alpha-D-phosphohexomutase, conserved site
- Alpha-D-phosphohexomutase, C-terminal domain superfamily
- Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain I
- Alpha-D-phosphohexomutase, C-terminal
- Phosphoacetylglucosamine mutase
- Phosphoacetylglucosamine mutase AMG1, domain III
- Phosphoacetylglucosamine mutase AMG1, domain II
- Phosphoglucomutase/phosphomannomutase, C-terminal domain
- Phosphoacetylglucosamine mutase AMG1, domain III
- Phosphoacetylglucosamine mutase AMG1, domain II
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PGM3 as an antibody target. Whether an autoantibody or antibody against PGM3 could matter depends on whether native PGM3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PGM3 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 PGM3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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