PGM3 - phosphoglucomutase 3 Gene

Also Known as AGM1; PAGM; IMD23; PGM 3

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 5238

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	参考文献	由来
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	参考文献	由来
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

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (5)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-124909A	FR054	Inhibitor	99.46%	Unkown
HY-D0153	Tetramethylrhodamine-5-isothiocyanate		/	Unkown
HY-RS10392	PGM3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18366	Pgm3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24845	Pgm3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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