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 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:74,890,042-74,898,228)mRNA (may differ from genome)Protein (362 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGImyGene2
neXtProtOMIMPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  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";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MPI
Diseases sorted by gene-association score: congenital disorder of glycosylation, type ib* (1569), protein-losing enteropathy (31), congenital disorder of glycosylation, type in (12), onchocerciasis (8), leishmaniasis (8), cutaneous leishmaniasis (7)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.85 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 410.24 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -7.6032-0.237 Picture PostScript Text
3' UTR -180.80498-0.363 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001250 - Man6P_Isoase-1
IPR016305 - Mannose-6-P_Isomerase
IPR018050 - Pmannose_isomerase-type1_CS
IPR014710 - RmlC-like_jellyroll
IPR011051 - RmlC_Cupin

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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004476 mannose-6-phosphate isomerase activity
GO:0008270 zinc ion binding
GO:0016853 isomerase activity
GO:0046872 metal ion binding

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

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  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

-  Other Names for This Gene
  Alternate Gene Symbols: A8K8K9, ENST00000323744.1, ENST00000323744.2, ENST00000323744.3, ENST00000323744.4, ENST00000323744.5, ENST00000323744.6, ENST00000323744.7, ENST00000323744.8, ENST00000323744.9, MPI_HUMAN, NM_001289157, P34949, PMI1, Q96AB0, uc002aze.1, uc002aze.2, uc002aze.3
UCSC ID: ENST00000323744.10
RefSeq Accession: NM_001289157
Protein: P34949 (aka MPI_HUMAN)
CCDS: CCDS73757.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene MPI:
cdg (Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.