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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 (Mannose Phosphate Isomerase) is a Protein Coding gene. Diseases associated with MPI include Congenital Disorder Of Glycosylation, Type Ib and Protein-Losing Enteropathy. Among its related pathways are Fructose and mannose metabolism and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include mannose-6-phosphate isomerase activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004476 | mannose-6-phosphate isomerase activity | IEA,TAS | -- |
GO:0008270 | zinc ion binding | IEA | -- |
GO:0016853 | isomerase activity | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0070062 | extracellular exosome | HDA | 23533145 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Fructose and mannose metabolism | ||
2 | Synthesis of substrates in N-glycan biosythesis | ||
3 | Metabolism of proteins | ||
4 | Amino sugar and nucleotide sugar metabolism | ||
5 | Metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000032 | cell wall mannoprotein biosynthetic process | IBA | 21873635 |
GO:0005975 | carbohydrate metabolic process | IEA | -- |
GO:0006486 | protein glycosylation | IBA | 21873635 |
GO:0009298 | GDP-mannose biosynthetic process | IEA,TAS | -- |
GO:0061611 | mannose to fructose-6-phosphate metabolic process | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Beta-D-Fructose 6-phosphate |
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ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3a | · | 3b | · | 3c | · | 3d | · | 3e | ^ | 4a | · | 4b | · | 4c | · | 4d | · | 4e | ^ | 5a | · | 5b | · | 5c | · | 5d | · | 5e | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP13: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP14: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP15: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP16: | - |
ExUns: | 8b |
---|---|
SP1: | |
SP2: | |
SP3: | |
SP4: | |
SP5: | |
SP6: | |
SP7: | |
SP8: | |
SP9: | |
SP10: | |
SP11: | |
SP12: | |
SP13: | |
SP14: | |
SP15: | |
SP16: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MPI 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MPI 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MPI 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Mpi 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mpi 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | MPI 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MPI 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MPI 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MPI 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mpi 30 |
|
||
Str.8465 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.4456 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mpi 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000053 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG8417 30 31 32 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | ZK632.4 30 31 32 |
|
OneToMany | |
C05C8.7 31 32 |
|
OneToMany | |||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ADR003C 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PMI40 30 31 33 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D13728g 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | DIN9 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os01g0127900 30 |
|
||
Os.34778 30 |
|
||||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU07165 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPBC2G2.16 30 |
|
SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
653334 | Uncertain Significance: MPI-CDG | 74,897,632(+) | C/T | MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT | |
663264 | Uncertain Significance: MPI-CDG | 74,890,571(+) | A/G | INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT,INTRON_VARIANT | |
671657 | Likely Benign: not provided | 74,891,450(+) | C/T | SYNONYMOUS_VARIANT | |
682551 | Likely Benign: not provided | 74,890,105(+) | G/T | INTRON_VARIANT | |
703485 | Likely Benign: MPI-CDG | 74,892,705(+) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1060905 | CNV | insertion | 17803354 |
esv990390 | CNV | deletion | 20482838 |
nsv1121512 | CNV | deletion | 24896259 |
Disorder | Aliases | PubMed IDs |
---|---|---|
congenital disorder of glycosylation, type ib |
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protein-losing enteropathy |
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congenital disorder of glycosylation, type in |
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leishmaniasis |
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|
congenital disorder of glycosylation, type iid |
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