MPI - mannose phosphate isomerase Gene

Also Known as PMI; PMI1; CDG1B

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4351

About MPI

Cytogenetic location: 15q24.1-q24.2 Genomic coordinates (GRCh38): 15:74,890,042-74,902,219 (from NCBI)

This gene has 24 transcripts (splice variants), 203 orthologues and is associated with 3 phenotypes. Ubiquitous expression in duodenum (RPKM 9.9), small intestine (RPKM 9.3) and 25 other tissues.

Summary

Phosphomannose isomerase catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate and plays a critical role in maintaining the supply of D-mannose derivatives, which are required for most glycosylation reactions. Mutations in the MPI gene were found in patients with carbohydrate-deficient glycoprotein syndrome, type Ib. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

MPI Products (5)

mRNA	Protein	Name
NM_001289155.2	NP_001276084.1	mannose-6-phosphate isomerase isoform 2
NM_001289156.2	NP_001276085.1	mannose-6-phosphate isomerase isoform 3
NM_001289157.2	NP_001276086.1	mannose-6-phosphate isomerase isoform 4
NM_001330372.2	NP_001317301.1	mannose-6-phosphate isomerase isoform 5
NM_002435.3	NP_002426.1	mannose-6-phosphate isomerase isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables mannose-6-phosphate isomerase activity	IDA IDA: Inferred from direct assay	8307007	GOA
enables mannose-6-phosphate isomerase activity	IMP IMP: Inferred from mutant phenotype	9525984	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in GDP-mannose biosynthetic process from fructose-6-phosphate	IMP IMP: Inferred from mutant phenotype	9525984	GOA
involved in mannose to fructose-6-phosphate catabolic process	IDA IDA: Inferred from direct assay	8307007	GOA
involved in mannose to fructose-6-phosphate catabolic process	IMP IMP: Inferred from mutant phenotype	9525984	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

MPI Protein Structure

PMI_typeI

0
100
200
300
400
423 a.a.

Protein Preferred Names	Protein Names
mannose-6-phosphate isomerase	phosphohexomutase

MPI Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81340	Mannose Phosphate Isomerase Antibody (YA1085)	WB, ICC/IF	Human, Rat
HY-P81340A	Mannose Phosphate Isomerase Antibody (YA1085)(PBS only)	WB, ICC/IF	Human, Rat
HY-P85506	Mannose Phosphate Isomerase Antibody (YA5198)	WB, ICC/IF	Human, Rat

Related Diseases

Diseases	Alias
Congenital Disorder Of Glycosylation, Type Ib	CDG1B Cdg Ib Cdgib Mannosephosphate Isomerase Deficiency Mpi Deficiency Protein-Losing Enteropathy-Hepatic Fibrosis Syndrome Saguenay-Lac Saint-Jean Syndrome Slsj Syndrome Congenital Disorder Of Glycosylation Ib Congenital Disorder Of Glycosylation 1b Mpi-Cdg Cdg-Ib Congenital Disorder Of Glycosylation Type 1b Congenital Disorder Of Glycosylation Type Ib Cdg, Gastrointestinal Type Cdg Syndrome Type Ib Carbohydrate Deficient Glycoprotein Syndrome Type Ib Phosphomannose Isomerase Deficiency Carbohydrate-Deficient Glycoprotein Syndrome Type Ib Cdg Gastrointestinal Type Cdgs1b Glycosylation, Congenital Disorder Of, Type Ib
Protein-Losing Enteropathy	Protein-Losing Enteropathies Enteropathy, Exudative Exudative Enteropathy Ple - [Protein-Losing Enteropathy]
Leishmaniasis	Post-Kala-Azar Dermal Leishmaniasis Post Kala-Azar Dermal Leishmaniasis Post-Kala-Azar Dermal Infectious Disease By Leishmaniasis Cutaneous Leishmaniasis Kala-Azar Visceral Leishmaniasis Leishmaniasis, Cutaneous Leishmaniasis, Visceral Leishmania Leishmania Infection Leishmaniosis
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 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
Congenital Disorder Of Glycosylation, Type Iid	CDG2D Congenital Disorder Of Glycosylation Type Iid Cdg Iid Cdgiid B4galt1-Cdg Cdg-Iid Congenital Disorder Of Glycosylation Type 2d Beta-1,4-Galactosyltransferase Deficiency Cdg Syndrome Type Iid Carbohydrate Deficient Glycoprotein Syndrome Type Iid Congenital Disorder Of Glycosylation 2d Glycosylation, Congenital Disorder Of, Type Iid Congenital Disorder Of Glycosylation, Type Iiid
Congenital Disorder Of Glycosylation, Type Iia	CDG2A Congenital Disorder Of Glycosylation Type Iia Cdg Iia Cdgiia Congenital Disorder Of Glycosylation Type 2a Alkuraya Syndrome Mental Retardation, Growth Retardation, Prominent Columella, And Open Mouth Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii Mgat2-Cdg Cdg-Iia Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii, Formerly Cdgs2, Formerly Cdgs2 Cdg Syndrome Type Iia Carbohydrate Deficient Glycoprotein Syndrome Type Iia N-Acetylglucosaminyltransferase 2 Deficiency Congenital Disorder Of Glycosylation 2a Carbohydrate-Deficient Glycoprotein Syndrome Type Ii Cdgs Type Ii Carbohydrate-Deficient Glycoprotein Syndrome Type 2 Glycosylation, Congenital Disorder Of, Type Iia
Fructose Intolerance, Hereditary	Hereditary Fructose Intolerance Fructose Intolerance Fructose-1-Phosphate Aldolase Deficiency Fructose-1,6-Bisphosphate Aldolase B Deficiency Aldolase B Deficiency Fructosemia Aldob Deficiency Hereditary Fructose Intolerance Syndrome HFI Fructosaemia Hereditary Fructose-1-Phosphate Aldolase Deficiency Fructose Aldolase B Deficiency Fructose-1,6-Biphosphate Aldolase Deficiency Hereditary Fructosemia Fructosemia, Hereditary Hereditary Fructosaemia Fructose-Biphosphate Aldolase B Deficiency Fructose Intolerance Of Newborn Aldb - [Aldolase B] Deficiency Deficiency Of Fructose-Bisphosphate Aldolase
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
Congenital Disorder Of Glycosylation, Type Iio	CDG2O Ccdc115-Cdg Cdg Iio Congenital Disorder Of Glycosylation Type Iio Cdgiio Carbohydrate Deficient Glycoprotein Syndrome Type Iio Cdg Syndrome Type Iio Congenital Disorder Of Glycosylation Type 2o Cdg-Iio Cdgiido Congenital Disorder Of Glycosylation 2o Glycosylation, Congenital Disorder Of, Type Iio
Congenital Disorder Of Glycosylation, Type Iif	CDG2F Congenital Disorder Of Glycosylation Type Iif Cdg Iif Cdgiif Carbohydrate Deficient Glycoprotein Syndrome Type Iif Cmp-Sialic Acid Transporter Deficiency Slc35a1-Cdg Cdg-Iif Cdgiidf Cdg Syndrome Type Iif Congenital Disorder Of Glycosylation Type 2f Congenital Disorder Of Glycosylation 2f Glycosylation, Congenital Disorder Of, Type Iif
Mucocutaneous Leishmaniasis	American Cutaneous Leishmaniasis American Mucocutaneous Leishmaniasis Cutaneous Leishmaniasis, American Mucocutaneous Leishmaniasis, American New World Cutaneous Leishmaniasis Leishmaniasis, Mucocutaneous Espundia Leishmania Braziliensis Infection
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
Congenital Disorder Of Glycosylation, Type Ia	CDG1A Cdg Ia Phosphomannomutase 2 Deficiency Jaeken Syndrome Pmm2-Congenital Disorder Of Glycosylation Congenital Disorder Of Glycosylation Type Ia Cdgia Congenital Disorder Of Glycosylation Ia Congenital Disorder Of Glycosylation 1a Carbohydrate-Deficient Glycoprotein Syndrome Type Ia Cdgs1a Pmm2-Cdg Cdg-Ia Congenital Disorder Of Glycosylation Type 1a Carbohydrate-Deficient Glycoprotein Syndrome, Type Ia, Formerly Pmm Deficiency Cdg Syndrome Type Ia Carbohydrate Deficient Glycoprotein Syndrome Type Ia Cdg Syndrome Type 1a Jaeken'S Syndrome Pmm2 Deficiency Glycosylation, Congenital Disorder Of, Type Ia
Hyperinsulinemic Hypoglycemia	Nesidioblastosis Islet Cell Hyperplasia Persistent Hyperinsulinemia Hypoglycemia Of Infancy Hyperinsulinemic Hypoglycaemia
Adams-Oliver Syndrome	Adams Oliver Syndrome Aos Congenital Scalp Defects With Distal Limb Reduction Anomalies Aplasia Cutis Congenita With Terminal Transverse Limb Defects Congenital Scalp Defects With Distal Limb Anomalies Limb, Scalp And Skull Defects Limb Scalp And Skull Defects Absence Defect Of Limbs, Scalp, And Skull
Hemochromatosis, Type 1	Hemochromatosis Hemochromatosis Type 1 Hereditary Hemochromatosis Hh HFE1 Hfe Hemochromatosis, Modifier Of Symptomatic Form Of Classic Hemochromatosis Symptomatic Form Of Hemochromatosis Type 1 Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis Haemochromatosis Iron Storage Disorder Bronze Diabetes Hereditary Haemochromatosis Hlah Hfe Hemochromatosis, Hereditary Diabetes Bronze Classic Hemochromatosis Hfe-Associated Hereditary Hemochromatosis Hemochromatosis Classic Bronzed Cirrhosis Familial Hemochromatosis Genetic Hemochromatosis Hc Pigmentary Cirrhosis Primary Hemochromatosis Troisier-Hanot-Chauffard Syndrome Von Recklenhausen-Applebaum Disease Hemochromatosis 1 Primary Hereditary Hemochromatosis Bronze Cirrhosis
Walker-Warburg Syndrome	Hard Syndrome Walker-Warburg Congenital Muscular Dystrophy Cerebroocular Dysplasia-Muscular Dystrophy Syndrome Cod-Md Syndrome Chemke Syndrome Hydrocephalus, Agyria And Retinal Dysplasia Cerebroocular Dysgenesis Cerebroocular Dysplasia Muscular Dystrophy Syndrome Hard +/- E Syndrome Pagon Syndrome Warburg Syndrome Hydrocephalus, Agyria, And Retinal Dysplasia Mddga Muscular Dystrophy-Dystroglycanopathy , Type A Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A Hydrocephalus-Agyria-Retinal Dysplasia Syndrome Wws Dystrophy, Muscular, Dystroglycanopathy, Type A

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

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-147416	Vipoglanstat	Inhibitor	99.86%	Phase 2

Pre-clinical Phase

Bioactive Molecules (14)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-112945	MLS0315771	Inhibitor	99.46%	Unkown
HY-12660	MPI-0479605		99.54%	Unkown
HY-155813	MPI60	Inhibitor	98.35%	Unkown
HY-113957	MPI_5a	Inhibitor	99.0%	Unkown
HY-158763A	MPI8 TFA	Inhibitor	/	Unkown
HY-RS13382	SLPI Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-183885	MPI3	Inhibitor	/	Unkown
HY-129715	MPI-0441138		/	Unkown
HY-RS08614	MPI Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-158763	MPI8	Inhibitor	/	Unkown
HY-163627	SARS-CoV-2 Mpro-IN-19	Inhibitor	/	Unkown
HY-163628	SARS-CoV-2 Mpro-IN-20	Inhibitor	/	Unkown
HY-RS17360	Mpi Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23814	Mpi Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	MPI	VGNC	VGNC:68309
Rattus norvegicus	MPI	RGD	RGD:3107
Canis familiaris	MPI	VGNC	VGNC:58318
Mus musculus	MPI	MGD	MGI:97075
Macaca mulatta	MPI	VGNC	VGNC:84398
Bos taurus	MPI	VGNC	VGNC:50218
Others	MPI	NCBI