• Gene id: 4351

Gene Summary

• Gene Symbol: MPI   Gene   UCSC   Ensembl
• Aliases: CDG1B, PMI, PMI1
• Gene name: mannose phosphate isomerase
• Alternate names: mannose-6-phosphate isomerase, phosphohexomutase, phosphomannose isomerase 1,
• Gene location: 15q24.1 (74890041: 74902218)     Exons: 8     NC_000015.10
• Gene summary(Entrez): 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
• OMIM: 154550

Protein Summary

• Protein general information: P34949  
  • Name: Mannose 6 phosphate isomerase (EC 5.3.1.8) (Phosphohexomutase) (Phosphomannose isomerase) (PMI)
  • Length: 423  
  • Mass: 46656
  • Tissue specificity: Expressed in all tissues, but more abundant in heart, brain and skeletal muscle.
• Sequence:

  MAAPRVFPLSCAVQQYAWGKMGSNSEVARLLASSDPLAQIAEDKPYAELWMGTHPRGDAKILDNRISQKTLSQWI
  AENQDSLGSKVKDTFNGNLPFLFKVLSVETPLSIQAHPNKELAEKLHLQAPQHYPDANHKPEMAIALTPFQGLCG
  FRPVEEIVTFLKKVPEFQFLIGDEAATHLKQTMSHDSQAVASSLQSCFSHLMKSEKKVVVEQLNLLVKRISQQAA
  AGNNMEDIFGELLLQLHQQYPGDIGCFAIYFLNLLTLKPGEAMFLEANVPHAYLKGDCVECMACSDNTVRAGLTP
  KFIDVPTLCEMLSYTPSSSKDRLFLPTRSQEDPYLSIYDPPVPDFTIMKTEVPGSVTEYKVLALDSASILLMVQG
  TVIASTPTTQTPIPLQRGGVLFIGANESVSLKLTEPKDLLIFRACCLL

• Structural information:
  • Interpro: IPR001250  IPR016305  IPR018050  IPR014710  IPR011051  
  • Prosite: PS00965 PS00966
  • STRING: ENSP00000318318
• Other Databases: GeneCards:  MPI  Malacards:  MPI

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016853	isomerase activity	IEA	molecular function
GO:0004476	mannose-6-phosphate isomerase activity	TAS	molecular function
GO:0004476	mannose-6-phosphate isomerase activity	IEA	molecular function
GO:0009298	GDP-mannose biosynthetic process	TAS	biological process
GO:0004476	mannose-6-phosphate isomerase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0009298	GDP-mannose biosynthetic process	IEA	biological process
GO:0061611	mannose to fructose-6-phosphate metabolic process	IEA	biological process
GO:0004476	mannose-6-phosphate isomerase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0009298	GDP-mannose biosynthetic process	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0006486	protein glycosylation	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0004476	mannose-6-phosphate isomerase activity	IBA	molecular function
GO:0009298	GDP-mannose biosynthetic process	IBA	biological process
GO:0004476	mannose-6-phosphate isomerase activity	IEA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0009298	GDP-mannose biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00520	Amino sugar and nucleotide sugar metabolism
hsa00051	Fructose and mannose metabolism

Diseases

Associated diseases	References
Congenital disorders of glycosylation type I	KEGG:H00118
Congenital disorders of glycosylation type I	KEGG:H00118
Male factor infertility	MIK: 29961538
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq