Functions and Diseases

RBP Type Non-canonical_RBPs
Diseases SARS-COV-2
Drug N.A.
Main interacting RNAs N.A.
Moonlighting functions Metabolic enzyme
Localizations N.A.
BulkPerturb-seq

Description

Ensembl ID ENSG00000079739 Gene ID 5236 Accession 8905
Symbol PGM1 Alias CDG1T;GSD14 Full Name phosphoglucomutase 1
Status Confidence Length 66835 bases Strand Plus strand
Position 1 : 63593411 - 63660245 RNA binding domain N.A.
Summary 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]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal
31665645 Systematic Discovery of Endogenous Human Ribonucleoprotein Complexes. L Anna Mallam 2019-10-29 Cell reports

Transcripts

Name Transcript ID bp Protein Translation ID
PGM1-202 ENST00000371084 2337 562aa ENSP00000360125
PGM1-206 ENST00000650546 2423 584aa ENSP00000497812
PGM1-203 ENST00000473117 373 No protein -
PGM1-201 ENST00000371083 2657 580aa ENSP00000360124
PGM1-204 ENST00000483707 612 No protein -
PGM1-205 ENST00000540265 2345 365aa ENSP00000443449

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID
4638Cholesterol1.08750826576591E-517903299
12162Inflammatory Bowel Diseases1.226E-517068223
13090Bipolar Disorder9.59E-519488044
18745Erythrocyte Indices5.206e-005-
23379Body Height7.5000000E-005-
27942Diabetes Mellitus2.0930000E-006-
38686Platelet Function Tests1.1030600E-005-
38918Platelet Function Tests1.4690200E-005-
40475Platelet Function Tests1.3256800E-005-
52018Child Development Disorders, Pervasive4.6000000E-005-
61035Alcohol Drinking2E-921665994
63886Bronchodilator Agents4E-626634245
63887Lung Volume Measurements4E-626634245
86267Diabetes Mellitus, Type 14E-719430480

GWAS

ensgIDSNPChromosomePosition TraitPubmedIDOr or BEAT EFO ID

Protein-Protein Interaction (PPI)

Paralogs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Orthologs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0000287enables magnesium ion binding1IDAHomo_sapiens(9606)Function
GO:0004614enables phosphoglucomutase activity3IBA,IDA,TASHomo_sapiens(9606)Function
GO:0005515enables protein binding1IPIHomo_sapiens(9606)Function
GO:0005576located_in extracellular region1TASHomo_sapiens(9606)Component
GO:0005737located_in cytoplasm1NASHomo_sapiens(9606)Component
GO:0005829is_active_in cytosol2IBA,TASHomo_sapiens(9606)Component
GO:0005975involved_in carbohydrate metabolic process1IBAHomo_sapiens(9606)Process
GO:0006006involved_in glucose metabolic process2IDA,NASHomo_sapiens(9606)Process
GO:0006094involved_in gluconeogenesis1TASHomo_sapiens(9606)Process
GO:0006096involved_in glycolytic process1TASHomo_sapiens(9606)Process
GO:0070062located_in extracellular exosome1HDAHomo_sapiens(9606)Component
GO:1904724located_in tertiary granule lumen1TASHomo_sapiens(9606)Component
GO:1904813located_in ficolin-1-rich granule lumen1TASHomo_sapiens(9606)Component

Expression