PGM1 - phosphoglucomutase 1 Gene

Also Known as CDG1T; GSD14

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5236

About PGM1

Cytogenetic location: 1p31.3 Genomic coordinates (GRCh38): 1:63,593,411-63,660,245 (from NCBI)

This gene has 6 transcripts (splice variants), 201 orthologues, 6 paralogues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 59.8), liver (RPKM 51.7) and 25 other tissues.

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]

PGM1 Products (3)

mRNA	Protein	Name
NM_001172818.1	NP_001166289.1	phosphoglucomutase-1 isoform 2
NM_001172819.2	NP_001166290.1	phosphoglucomutase-1 isoform 3
NM_002633.3	NP_002624.2	phosphoglucomutase-1 isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables magnesium ion binding	IDA IDA: Inferred from direct assay	26972339	GOA
enables phosphoglucomutase activity	IDA IDA: Inferred from direct assay	1530890	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21044950	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in galactose catabolic process via UDP-galactose	IMP IMP: Inferred from mutant phenotype	30982613	GOA
involved in glucose metabolic process	IDA IDA: Inferred from direct assay	25288802	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PGM1 Protein Structure

PGM_PMM_I

PGM_PMM_II

PGM_PMM_III

PGM_PMM_IV

0
100
200
300
400
500
562 a.a.

Protein Preferred Names	Protein Names
phosphoglucomutase-1	PGM 1

PGM1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PGM1	P36871	TINF2	Homo sapiens	Q9BSI4	Pull Down	21044950
Intra	PGM1	P36871	TINF2	Homo sapiens	Q9BSI4	BiFC	21044950

Cross: Cross-species interaction Intra: Intraspecies interaction

PGM1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81858	PGM1 Antibody (YA1603)	WB, ICC/IF, IP	Human, Mouse, Rat
HY-P81858A	PGM1 Antibody (YA1603)(PBS only)	WB, ICC/IF, IP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Congenital Disorder Of Glycosylation, Type It	CDG1T Glycogen Storage Disease Xiv Cdg It Cdgit Phosphoglucomutase 1 Deficiency Pgm1 Deficiency Gsd14 Gsd Xiv Congenital Disorder Of Glycosylation 1t Pgm1-Cdg Cdg-It Congenital Disorder Of Glycosylation Type It Congenital Disorder Of Glycosylation It Cdg Syndrome Type It Congenital Disorder Of Glycosylation Type 1t Pgm1-Related Congenital Disorder Of Glycosylation Phosphoglucomutase-1 Deficiency Glycosylation, Congenital Disorder Of, Type It
Congenital Disorder Of Glycosylation, Type In	Congenital Disorder Of Glycosylation CDG1N Congenital Disorders Of Glycosylation Cdg In Cdgin Congenital Disorder Of Glycosylation 1n Carbohydrate-Deficient Glycoprotein Syndrome Cdg Rft1-Cdg Cdg-In Congenital Disorder Of Glycosylation Type In Carbohydrate Deficient Glycoprotein Syndrome Cdg Syndrome Congenital Disorder Of Glycosylation In Carbohydrate-Deficient Glycoprotein Syndromes Cdg Syndrome Type In Carbohydrate Deficient Glycoprotein Syndrome Type In Congenital Disorder Of Glycosylation Type 1n Man5glcnac2-Pp-Dol Flippase Deficiency Glycosylation, Congenital Disorder Of Glycosylation, Congenital Disorder Of, Type In
Fetal Macrosomia
Congenital Disorder Of Glycosylation, Type Iik	CDG2K Congenital Disorder Of Glycosylation Type Iik Cdg Iik Cdgiik Carbohydrate Deficient Glycoprotein Syndrome Type Iik Cdg Syndrome Type Iik Congenital Disorder Of Glycosylation Type 2k Tmem165-Cdg Cdg-Iik Cdgiidk Congenital Disorder Of Glycosylation 2k Glycosylation, Congenital Disorder Of, Type Iik
Immunodeficiency 47	Congenital Disorder Of Glycosylation Type Ii CDG2E Congenital Disorder Of Glycosylation Type Iie IMD47 Cdg2s Cdg Iis Cdgiis Immunodeficiency And Hepatopathy With Or Without Neurologic Features Congenital Disorder Of Glycosylation, Type Ii CDG1I Congenital Disorder Of Glycosylation, Type Iie Cdg Iie Congenital Disorder Of Glycosylation Type 2e Congenital Disorder Of Glycosylation, Type Iis Cdg Ii Cdgii Cdgiie Carbohydrate Deficient Glycoprotein Syndrome Type Iie Cdg Syndrome Type Iie Congenital Disorder Of Glycosylation Ii Congenital Disorder Of Glycosylation 1i Cdg-Iie Alg2-Cdg Cdg-Ii Glycosylation, Congenital Disorder Of, Type Ii Cdgiide Congenital Disorder Of Glycosylation Type Iis Cog7-Cdg Cdg Syndrome Type Ii Carbohydrate Deficient Glycoprotein Syndrome Type Ii Congenital Disorder Of Glycosylation Type 1i Mannosyltransferase 2 Deficiency Congenital Disorder Of Glycosylation 2e Congenital Disorder Of Glycosylation 2s Congenital Disorders Of Glycosylation Type Ii Glycosylation, Congenital Disorder Of, Type Iie Immunodeficiency, Type 47 Congenital Disorder Of Glycosylation Type 2a
Congenital Disorder Of Glycosylation, Type Iin	CDG2N Slc39a8-Cdg Cdg Iin Congenital Disorder Of Glycosylation Type Iin Cdgiin Carbohydrate Deficient Glycoprotein Syndrome Type Iin Cdg Syndrome Type Iin Congenital Disorder Of Glycosylation Type 2n Cdg-Iin Cdgiidn Slc39a8 Deficiency Congenital Disorder Of Glycosylation 2n Glycosylation, Congenital Disorder Of, Type Iin
Pulmonary Tuberculosis	Tuberculosis, Pulmonary PTB Tuberculosis Pulmonary
Glycogen Storage Disease	Glycogenosis Glycogenoses Gsd Storage Disease, Glycogen Gsd - [Glycogen Storage Disease] Glycogen Thesaurismosis Diffuse Glycogenosis Generalised Glycogen Storage Disease Generalised Glycogenosis Generalised Glycogen Storage Disease Of Infants Glycogen Synthase Deficiency
Galactosemia I	Galactosemia Galt Deficiency Classic Galactosemia Galactose-1-Phosphate Uridylyltransferase Deficiency Galactose-1-Phosphate Uridyltransferase Deficiency GALAC1 Galactosemia, Classic Galactosemia Type 1 Galactosemias Classical Galactosemia Galactosaemia Galactose Intolerance Epimerase Deficiency Galactosemia Galactokinase Deficiency Disease Galactose Epimerase Deficiency Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease Gale Deficiency Galk Deficiency Udp-Galactose-4-Epimerase Deficiency Disease Utp Hexose-1-Phosphate Uridylyltransferase Deficiency Galactosemia 1 Galactosemia, Duarte Variant Deficiency Of Galactokinase Udpglucose 4-Epimerase Deficiency Disease Classical Galactosaemia Galput Deficiency - [Galactose-4-Phosphate Uridyltransferase] Deficiency Classic Galactosaemia Deficiency Of Hexose-1-Phosphate Uridylyltransferase Deficiency Of Udpglucose-Hexose-1-Phosphate Uridylyltransferase Deficiency Of Galactose-1-Phosphate Uridylyltransferase Galactose-1-Phosphate Uridyl Transferase Deficiency Transferase Deficiency Galactosemia Deficiency Of Uridyl Transferase Deficiency Of Utp-Hexose-1-Phosphate Uridylyltransferase Utp-Hexose-1-Phosphate Uridyltransferase Deficiency
Lymphoplasmacyte-Rich Meningioma	Lymphoplasmocyte-Rich Meningioma Meningioma
Congenital Disorder Of Glycosylation, Type Iip	CDG2P Tmem199-Cdg Cdg Iip Congenital Disorder Of Glycosylation Type Iip Cdgiip Carbohydrate Deficient Glycoprotein Syndrome Type Iip Cdg Syndrome Type Iip Congenital Disorder Of Glycosylation Type 2p Cdg-Iip Cdgiidp Congenital Disorder Of Glycosylation 2p
Fructose-1,6-Bisphosphatase Deficiency	Fructose-1,6-Diphosphatase Deficiency Baker-Winegrad Disease FBP1D Fbpase Deficiency Fructose 1,6 Diphosphatase Deficiency Fructose 1 Phosphate Aldolase Deficiency Fbp1 Deficiency Hereditary Fructose Intolerance Syndrome
Hyperinsulinemic Hypoglycemia	Nesidioblastosis Islet Cell Hyperplasia Persistent Hyperinsulinemia Hypoglycemia Of Infancy Hyperinsulinemic Hypoglycaemia
Inflammatory Bowel Disease	Inflammatory Bowel Diseases Bowel Disease, Inflammatory
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10389	PGM1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19932	Pgm1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20324	Pgm2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26434	Pgm1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PGM1	VGNC	VGNC:44463
Bos taurus	PGM1	VGNC	VGNC:32793
Mus musculus	PGM1	MGD	MGI:97565
Macaca mulatta	PGM1	VGNC	VGNC:97804
Rattus norvegicus	PGM1	RGD	RGD:3316
Others	PGM1	NCBI