PGM3 - phosphoglucomutase 3 Gene

Homo sapiens

Also known as AGM1; PAGM; IMD23; PGM 3

Gene ID: 5238 | Gene type: protein coding

About PGM3

Cytogenetic location: 6q14.1 Genomic coordinates (GRCh38): 6:83,148,705-83,193,900 (from NCBI)

This gene has 50 transcripts (splice variants), 209 orthologues, 6 paralogues and is associated with 3 phenotypes. Ubiquitous expression in prostate (RPKM 14.7), thyroid (RPKM 8.9) and 25 other tissues.

Summary

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]

PGM3 Products(6)

mRNA	Protein	Name
NM_001199917.2	NP_001186846.1	phosphoacetylglucosamine mutase isoform 1
NM_001199918.2	NP_001186847.1	phosphoacetylglucosamine mutase isoform 3
NM_001199919.2	NP_001186848.1	phosphoacetylglucosamine mutase isoform 4
NM_001367286.1	NP_001354215.1	phosphoacetylglucosamine mutase isoform 5
NM_001367287.1	NP_001354216.1	phosphoacetylglucosamine mutase isoform 1
NM_015599.3	NP_056414.1	phosphoacetylglucosamine mutase isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables phosphoacetylglucosamine mutase activity	IDA IDA: Inferred from direct assay	11004509	GOA
enables phosphoacetylglucosamine mutase activity	IMP IMP: Inferred from mutant phenotype	24589341	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in UDP-N-acetylglucosamine biosynthetic process	IMP IMP: Inferred from mutant phenotype	24589341	GOA
involved in protein N-linked glycosylation	IMP IMP: Inferred from mutant phenotype	24589341	GOA
involved in protein O-linked glycosylation	IMP IMP: Inferred from mutant phenotype	24589341	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

PGM3 Protein Structure

PGM_PMM_I

PGM_PMM_II

PGM_PMM_IV

0
100
200
300
400
500
542 a.a.

Protein Preferred Names

Protein Names

phosphoacetylglucosamine mutase

N-acetylglucosamine-phosphate mutase 1

Related Diseases

Diseases

Alias

Immunodeficiency 23

Cid Due To Pgm3 Deficiency	Combined Immunodeficiency Due To Pgm3 Deficiency
Pgm3-Cdg	Pgm3-Related Congenital Disorder Of Glycosylation
IMD23	Immunodeficiency With Hyper Ige And Cognitive Impairment
Immunodeficiency-Vasculitis-Myoclonus Syndrome	Ivms
Phosphoglucomutase 3 Deficiency	Phosphoglucomutase Deficiency Type 3
Pgm3-Congenital Disorder Of Glycosylation	Agm1 Deficiency
Deficiency Of N-Acetylglucosamine-Phosphate Mutase 1	Deficiency Of Phosphoglucomutase 3
Pgm3 Deficiency	Immunodeficiency, Type 23

Hyper Ige Syndrome

Hyper-Ige Syndrome	Hyper Immunoglobulin E Syndrome
Hies	Hyper-Ige Recurrent Infection Syndrome
Hyperimmunoglobulin E Syndrome	Hyper Ige
Job Syndrome	Hartnup Disease

Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant

Job Syndrome	Hyper-Ige Recurrent Infection Syndrome
Ad-Hies	Buckley Syndrome
HIES1	Hies Autosomal Dominant
Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Dominant	Autosomal Dominant Hyper-Ige Syndrome
Autosomal Dominant Hies	Stat3 Deficiency
Hyperimmunoglobulin E Syndrome Type 1	Hyper-Ige Syndrome, Autosomal Dominant
Hies, Autosomal Dominant	Autosomal Dominant Hyper Ige Syndrome
Ad Hyperimmunoglobulin E Syndrome	Hyper Ig E Syndrome, Autosomal Dominant
Job Syndrome Autosomal Dominant	Autosomal Dominant Hyper-Ige Recurrent Infection Syndrome
Autosomal Dominant Hyperimmunoglobulin E Recurrent Infection Syndrome	Autosomal Dominant Job Syndrome
Job'S Syndrome	Job-Buckley Syndrome
Stat3-Deficient Hyper Ige Syndrome	Autosomal Dominant Hyperimmunoglobulin E Syndrome
Hyperimmunoglobulin E-Recurrent Infection Syndrome	Hyper-Ige Recurrent Infection Syndrome Autosomal Dominant
Hyper-Ige Syndrome Autosomal Dominant

Severe Combined Immunodeficiency

Scid	Severe Combined Immunodeficiency Disease
Combined T And B Cell Inborn Immunodeficiency	Immunodeficiency, Severe Combined
Scid - [Severe Combined Immunodeficiencies]

Janus Kinase-3 Deficiency

Miliaria Pustulosa

Hyper Ige Recurrent Infection Syndrome 1

Job Syndrome	Hyper-Ige Recurrent Infection Syndrome 1
Hyperimmunoglobulin E Syndrome	Job'S Syndrome
Recurring Cold Staphylococcal Abscesses	Ige Syndromes
Buckley Syndrome	Hie - [Hyperimmunoglobulin E] Syndrome
Job-Buckley Syndrome	Quie-Hill Syndrome

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency	Congenital Combined Immunodeficiency
Syndrome With Combined Immunodeficiency	Combined T And B Cell Immunodeficiency
Combined Immunity Deficiency	Combined Immunodeficiency Syndrome
Combined T-Cell And B-Cell Immunodeficiency	Lymphopenic Agammaglobulinaemia

Immunodeficiency 35

Tyrosine Kinase 2 Deficiency	IMD35
Tyk2 Deficiency	Autosomal Recessive Hyper-Ige Syndrome With Atypical Mycobacteriosis
Susceptibility To Infection Due To Tyk2 Deficiency	Hyper-Ige Syndrome With Atypical Mycobacteriosis, Autosomal Recessive
Hies With Atypical Mycobacteriosis, Autosomal Recessive	Autosomal Recessiv Hies With Atypical Mycobacteriosis
Autosomal Recessive Hyper-Ige Syndrome Due To Tyk2 Deficiency	Autosomal Recessive Hies With Atypical Mycobacteriosis

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

Immunodeficiency 63 With Lymphoproliferation And Autoimmunity

IMD63	Il2rb Deficiency
Cd122 Deficiency	Immunodeficiency 63
Interleukin 2 Receptor, Beta, Deficiency Of	Deficiency Of Interleukin 2 Receptor Beta

Hepatic Venoocclusive Disease With Immunodeficiency

VODI	Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatic Veno-Occlusive Disease With Immunodeficiency	Familial Veno-Occlusive Disease With Immunodeficiency
Veno-Occlusive Disease And Immunodeficiency Syndrome	Vodi Syndrome
Vodi - [Veno-Occlusive Disease Immunodeficiency] Syndrome

Immunodeficiency 11b With Atopic Dermatitis

IMD11B	Atopic Dermatitis, Elevated Ige, And Eosinophilia
Immunodeficiency 11b

Febrile Seizures, Familial, 1

FEB1	Convulsions, Familial Febrile, 1
Familial Febrile Seizures 1	Familial Febrile Convulsions 1

Prolidase Deficiency

Hyperimidodipeptiduria	Imidodipeptidase Deficiency
Peptidase Deficiency	PD
Deficiency Of Prolidase	Imidodipeptiduria
Proline Dipeptidase Deficiency

Omenn Syndrome

Histiocytic Medullary Reticulosis	Severe Combined Immunodeficiency With Hypereosinophilia
Combined Immunodeficiency With Hypereosinophilia	Reticuloendotheliosis, Familial, With Eosinophilia
Reticuloendotheliosis Familial With Eosinophilia	Familial Reticuloendotheliosis
Omenn'S Syndrome	OS
Malignant Histiocytosis

B Cell Deficiency

Immunoglobulin Heavy Chain Deficiency	B Cell Deficiencies
Immunoglobulin Heavy Chain Deletion	Humoral Immune Defect

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

Chronic Mucocutaneous Candidiasis

Candidiasis, Chronic Mucocutaneous	Cmc
Candidiasis Chronic Mucocutaneous

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

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-124909A	FR054	Inhibitor	≥97.0%	Unkown
HY-D0153	Tetramethylrhodamine-5-isothiocyanate		/	Unkown
HY-RS10392	PGM3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PGM3	VGNC	VGNC:44466
Bos taurus	PGM3	VGNC	VGNC:32796
Macaca mulatta	PGM3	VGNC	VGNC:75970
Mus musculus	PGM3	MGD	MGI:97566
Rattus norvegicus	PGM3	RGD	RGD:1305221
Felis catus	PGM3	VGNC	VGNC:68819
Others	PGM3	NCBI

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