PGM1

Protein identityUniProt · HPA

UniProt accession

P36871

Gene

PGM1

Ensembl

ENSG00000079739

Chromosome

1

Canonical length

562 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Cytosol

OverviewNCBI Gene

The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Mar 2010]

Canonical amino-acid sequenceUniProt

562 residues, UniProt reviewed canonical sequence.

>P36871|PGM1
     1  MVKIVTVKTQ AYQDQKPGTS GLRKRVKVFQ SSANYAENFI QSIISTVEPA QRQEATLVVG
    61  GDGRFYMKEA IQLIARIAAA NGIGRLVIGQ NGILSTPAVS CIIRKIKAIG GIILTASHNP
   121  GGPNGDFGIK FNISNGGPAP EAITDKIFQI SKTIEEYAVC PDLKVDLGVL GKQQFDLENK
   181  FKPFTVEIVD SVEAYATMLR SIFDFSALKE LLSGPNRLKI RIDAMHGVVG PYVKKILCEE
   241  LGAPANSAVN CVPLEDFGGH HPDPNLTYAA DLVETMKSGE HDFGAAFDGD GDRNMILGKH
   301  GFFVNPSDSV AVIAANIFSI PYFQQTGVRG FARSMPTSGA LDRVASATKI ALYETPTGWK
   361  FFGNLMDASK LSLCGEESFG TGSDHIREKD GLWAVLAWLS ILATRKQSVE DILKDHWQKY
   421  GRNFFTRYDY EEVEAEGANK MMKDLEALMF DRSFVGKQFS ANDKVYTVEK ADNFEYSDPV
   481  DGSISRNQGL RLIFTDGSRI VFRLSGTGSA GATIRLYIDS YEKDVAKINQ DPQVMLAPLI
   541  SIALKVSQLQ ERTGRTAPTV IT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PGM1 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

1,461 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PGM1.

Disease | AllUniProt

Conditions PGM1 is implicated in, by any mechanism.

• Congenital disorder of glycosylation 1T (CDG1T) MIM:614921

Disease | GeneticClinVar

45 pathogenic / likely-pathogenic of 531 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• PGM1-congenital disorder of glycosylation
• PGM1-related disorder
• Inborn genetic diseases
• Congenital disorder of glycosylation

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)

1.32

gnomAD pLI

0

gnomAD missense Z

-0.23

DepMap mean gene effect

0.03

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

• carbohydrate metabolic process
• galactose catabolic process via UDP-galactose, Leloir pathway
• gluconeogenesis
• glucose metabolic process
• glycogen catabolic process
• glycolytic process

Molecular functions

• magnesium ion binding
• phosphoglucomutase activity

Cellular components

• cytoplasm
• cytosol
• extracellular exosome
• extracellular region
• ficolin-1-rich granule lumen
• tertiary granule lumen

Protein domainsUniProt · Pfam · InterPro

• Alpha-D-phosphohexomutase superfamily
• Alpha-D-phosphohexomutase, alpha/beta/alpha domain I
• Alpha-D-phosphohexomutase, alpha/beta/alpha domain II
• Alpha-D-phosphohexomutase, alpha/beta/alpha domain III
• Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III
• Alpha-D-phosphohexomutase, conserved site
• Alpha-D-phosphohexomutase, C-terminal domain superfamily
• Phosphoglucomutase
• Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain I
• Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain II
• Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain III
• Phosphoglucomutase-1, C-terminal domain

KeywordsUniProt

• Acetylation
• Carbohydrate metabolism
• Congenital disorder of glycosylation
• Cytoplasm
• Glucose metabolism
• Glycogen storage disease
• Isomerase
• Magnesium
• Metal-binding
• Phosphoprotein