Human Gene MPI (ENST00000323744.10) from GENCODE V44
Description: Homo sapiens mannose phosphate isomerase (MPI), transcript variant 4, mRNA. (from RefSeq NM_001289157) RefSeq Summary (NM_001289157): 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]. Gencode Transcript: ENST00000323744.10 Gencode Gene: ENSG00000178802.18 Transcript (Including UTRs) Position: hg38 chr15:74,890,042-74,898,228 Size: 8,187 Total Exon Count: 7 Strand: + Coding Region Position: hg38 chr15:74,890,074-74,897,730 Size: 7,657 Coding Exon Count: 7
ID:MPI_HUMAN DESCRIPTION: RecName: Full=Mannose-6-phosphate isomerase; EC=5.3.1.8; AltName: Full=Phosphohexomutase; AltName: Full=Phosphomannose isomerase; Short=PMI; FUNCTION: Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. CATALYTIC ACTIVITY: D-mannose 6-phosphate = D-fructose 6- phosphate. COFACTOR: Binds 1 zinc ion per subunit (By similarity). PATHWAY: Nucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; alpha-D-mannose 1-phosphate from D-fructose 6- phosphate: step 1/2. SUBCELLULAR LOCATION: Cytoplasm (Probable). TISSUE SPECIFICITY: Expressed in all tissues, but more abundant in heart, brain and skeletal muscle. DISEASE: Defects in MPI are the cause of congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]; also known as carbohydrate-deficient glycoprotein syndrome type Ib (CDGS1B). Congenital disorders of glycosylation are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. They are characterized by under- glycosylated serum glycoproteins. CDG1B is clinically characterized by protein-losing enteropathy. SIMILARITY: Belongs to the mannose-6-phosphate isomerase type 1 family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MPI";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF01238 - Phosphomannose isomerase type I
ModBase Predicted Comparative 3D Structure on P34949
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000032 cell wall mannoprotein biosynthetic process GO:0005975 carbohydrate metabolic process GO:0006486 protein glycosylation GO:0009298 GDP-mannose biosynthetic process GO:0061611 mannose to fructose-6-phosphate metabolic process
AK294030 - Homo sapiens cDNA FLJ56688 complete cds, highly similar to Mannose-6-phosphate isomerase (EC 5.3.1.8). AK302354 - Homo sapiens cDNA FLJ54812 complete cds, moderately similar to Mannose-6-phosphate isomerase (EC 5.3.1.8). AK301370 - Homo sapiens cDNA FLJ59446 complete cds, highly similar to Mannose-6-phosphate isomerase (EC 5.3.1.8). BX648475 - Homo sapiens mRNA; cDNA DKFZp686P11156 (from clone DKFZp686P11156). AF504648 - Homo sapiens tissue-type brain mannose phosphate isomerase isoform mRNA, complete cds. AK225149 - Homo sapiens mRNA for mannose-6- phosphate isomerase variant, clone: CBL06427. BC046357 - Homo sapiens mannose phosphate isomerase, mRNA (cDNA clone MGC:49923 IMAGE:5745956), complete cds. AK292374 - Homo sapiens cDNA FLJ76937 complete cds, highly similar to Homo sapiens mannose phosphate isomerase (MPI), mRNA. BC017351 - Homo sapiens mannose phosphate isomerase, mRNA (cDNA clone MGC:29577 IMAGE:5013257), complete cds. X76057 - H.sapiens PMI1 mRNA for phosphomannose isomerase. CU692334 - Synthetic construct Homo sapiens gateway clone IMAGE:100021391 5' read MPI mRNA. HQ448582 - Synthetic construct Homo sapiens clone IMAGE:100072020; CCSB011393_01 mannose phosphate isomerase (MPI) gene, encodes complete protein. KJ901581 - Synthetic construct Homo sapiens clone ccsbBroadEn_10975 MPI gene, encodes complete protein. KR710561 - Synthetic construct Homo sapiens clone CCSBHm_00014061 MPI (MPI) mRNA, encodes complete protein. KR710562 - Synthetic construct Homo sapiens clone CCSBHm_00014062 MPI (MPI) mRNA, encodes complete protein. KR710563 - Synthetic construct Homo sapiens clone CCSBHm_00014068 MPI (MPI) mRNA, encodes complete protein. KR710564 - Synthetic construct Homo sapiens clone CCSBHm_00014072 MPI (MPI) mRNA, encodes complete protein. AB529030 - Synthetic construct DNA, clone: pF1KB3428, Homo sapiens MPI gene for mannose phosphate isomerase, without stop codon, in Flexi system. LF208518 - JP 2014500723-A/16021: Polycomb-Associated Non-Coding RNAs. MA444095 - JP 2018138019-A/16021: Polycomb-Associated Non-Coding RNAs. LF377228 - JP 2014500723-A/184731: Polycomb-Associated Non-Coding RNAs. MA612805 - JP 2018138019-A/184731: Polycomb-Associated Non-Coding RNAs. AK096520 - Homo sapiens cDNA FLJ39201 fis, clone OCBBF2005349, weakly similar to MANNOSE-6-PHOSPHATE ISOMERASE (EC 5.3.1.8). JD244680 - Sequence 225704 from Patent EP1572962. JD479637 - Sequence 460661 from Patent EP1572962. JD105108 - Sequence 86132 from Patent EP1572962. JD387803 - Sequence 368827 from Patent EP1572962. JD305856 - Sequence 286880 from Patent EP1572962. JD370978 - Sequence 352002 from Patent EP1572962. JD511794 - Sequence 492818 from Patent EP1572962. JD191164 - Sequence 172188 from Patent EP1572962. JD539283 - Sequence 520307 from Patent EP1572962. JD431561 - Sequence 412585 from Patent EP1572962. JD153547 - Sequence 134571 from Patent EP1572962. JD174514 - Sequence 155538 from Patent EP1572962. JD414613 - Sequence 395637 from Patent EP1572962. JD371787 - Sequence 352811 from Patent EP1572962. JD065592 - Sequence 46616 from Patent EP1572962. JD219323 - Sequence 200347 from Patent EP1572962. JD285273 - Sequence 266297 from Patent EP1572962. MB404924 - JP 2019142789-A/1: A Cancer Metastasis Inhibitor.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa00051 - Fructose and mannose metabolism hsa00520 - Amino sugar and nucleotide sugar metabolism hsa01100 - Metabolic pathways
BioCarta from NCI Cancer Genome Anatomy Project h_pepiPathway - Proepithelin Conversion to Epithelin and Wound Repair Control
Reactome (by CSHL, EBI, and GO)
Protein P34949 (Reactome details) participates in the following event(s):
R-HSA-532549 MPI isomerises Fru6P to Man6P R-HSA-446205 Synthesis of GDP-mannose R-HSA-446219 Synthesis of substrates in N-glycan biosythesis R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein R-HSA-446203 Asparagine N-linked glycosylation R-HSA-597592 Post-translational protein modification R-HSA-392499 Metabolism of proteins