MPI - mannose phosphate isomerase Gene

Homo sapiens

Also known as PMI; PMI1; CDG1B

Gene ID: 4351 | Gene type: protein coding

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

MPI Protein Structure

PMI_typeI

0
100
200
300
400
423 a.a.

Protein Preferred Names

Protein Names

mannose-6-phosphate isomerase

phosphohexomutase

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-147416	Vipoglanstat	Inhibitor	99.74%	Phase 2

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-112945	MLS0315771	Inhibitor	99.41%	Unkown
HY-12660	MPI-0479605		99.51%	Unkown
HY-113957	MPI_5a	Inhibitor	≥99.0%	Unkown
HY-129715	MPI-0441138	Inducer	/	Unkown
HY-155813	MPI60	Inhibitor	/	Unkown
HY-RS08614	MPI Human Pre-designed siRNA Set A		/	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
Macaca fascicularis	MPI	NCBI
Others	MPI	NCBI

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