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MPI mannose phosphate isomerase [ Homo sapiens (human) ]

Gene ID: 4351, updated on 2-Nov-2024

Summary

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Official Symbol
MPIprovided by HGNC
Official Full Name
mannose phosphate isomeraseprovided by HGNC
Primary source
HGNC:HGNC:7216
See related
Ensembl:ENSG00000178802 MIM:154550; AllianceGenome:HGNC:7216
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PMI; PMI1; CDG1B
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]
Expression
Ubiquitous expression in duodenum (RPKM 9.9), small intestine (RPKM 9.3) and 25 other tissues See more
Orthologs
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Genomic context

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See MPI in Genome Data Viewer
Location:
15q24.1-q24.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (74890042..74902219)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (72759851..72772100)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (75182383..75194560)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:75134491-75135016 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:75135085-75135996 Neighboring gene microRNA 6882 Neighboring gene unc-51 like kinase 3 Neighboring gene secretory carrier membrane protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9809 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9810 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9811 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9813 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9814 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:75157901-75158832 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:75161878-75162388 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:75162904-75163889 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9815 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:75182299-75182832 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:75191053-75191552 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:75197802-75198608 Neighboring gene family with sequence similarity 219 member B Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:75198609-75199413 Neighboring gene cytochrome c oxidase subunit 5A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6661 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9819 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:75246929-75247862 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:75247863-75248796 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:75248797-75249730 Neighboring gene ribonuclease P and MRP subunit p25

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. MPI-based bioinformatic analysis and co-inhibitory therapy with mannose for oral squamous cell carcinoma. Yao Y, et al. Med Oncol, 2021 Jul 27. PMID 34313879
  2. The metabolic origins of mannose in glycoproteins. Ichikawa M, et al. J Biol Chem, 2014 Mar 7. PMID 24407290, Free PMC Article
  3. Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts. Sharma V, et al. J Biol Chem, 2011 Nov 11. PMID 21949237, Free PMC Article
  4. Computational study of human phosphomannose isomerase: Insights from homology modeling and molecular dynamics simulation of enzyme bound substrate. Xiao J, et al. J Mol Graph Model, 2006 Nov. PMID 16488169
  5. Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib. Vuillaumier-Barrot S, et al. J Med Genet, 2002 Nov. PMID 12414827, Free PMC Article

See all (52) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Selective Immobilization of His-Tagged Phosphomannose Isomerase on Ni Chelated Nanoparticles with Good Reusability and Activity.
    Title: Selective Immobilization of His-Tagged Phosphomannose Isomerase on Ni Chelated Nanoparticles with Good Reusability and Activity.
  2. MPI-based bioinformatic analysis and co-inhibitory therapy with mannose for oral squamous cell carcinoma.
    Title: MPI-based bioinformatic analysis and co-inhibitory therapy with mannose for oral squamous cell carcinoma.
  3. MPI loss is a driver of liver fibrosis and suggest that modulating mannose metabolism pathways could reduce hepatic stellate cell activation and improve hepatic fibrosis.
    Title: Mannose Phosphate Isomerase and Mannose Regulate Hepatic Stellate Cell Activation and Fibrosis in Zebrafish and Humans.
  4. This work provides mechanistic evidence by which mannose phosphate isomerase loss induces p53, and identifies mannose phosphate isomerase as a novel regulator of p53 and Warburg metabolism.
    Title: MPI depletion enhances O-GlcNAcylation of p53 and suppresses the Warburg effect.
  5. Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts
    Title: Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts.
  6. Meta-analysis of gene-disease association. (HuGE Navigator)
    Title: Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot".
  7. The mannose-6-phosphate-enzyme complex is developed and the key residues involved in the ligand binding are determined. Our results suggest a hydride transfer mechanism of alpha-hydrogen between the C1 and C2 positions.
    Title: Computational study of human phosphomannose isomerase: Insights from homology modeling and molecular dynamics simulation of enzyme bound substrate.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of mannose phosphate isomerase (MPI) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ39201

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables mannose-6-phosphate isomerase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables mannose-6-phosphate isomerase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables mannose-6-phosphate isomerase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables mannose-6-phosphate isomerase activity TAS
Traceable Author Statement
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in GDP-mannose biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in GDP-mannose biosynthetic process TAS
Traceable Author Statement
more info
  
involved_in GDP-mannose biosynthetic process from fructose-6-phosphate IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in GDP-mannose biosynthetic process from glucose IEA
Inferred from Electronic Annotation
more info
  
involved_in mannose to fructose-6-phosphate catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in mannose to fructose-6-phosphate catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 

General protein information

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Preferred Names
mannose-6-phosphate isomerase
Names
phosphohexomutase
phosphomannose isomerase 1
NP_001276084.1
NP_001276085.1
NP_001276086.1
NP_001317301.1
NP_002426.1
XP_047288492.1
XP_047288493.1
XP_054233936.1
XP_054233937.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008921.2 RefSeqGene

    Range
    5002..17179
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001289155.2 → NP_001276084.1  mannose-6-phosphate isomerase isoform 2

    See identical proteins and their annotated locations for NP_001276084.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compare to isoform 1.
    Source sequence(s)
    AC125435, AF504648, AW445009, AW813817, BX648475, CD706167
    Consensus CDS
    CCDS73756.1
    UniProtKB/TrEMBL
    E7ENB3, H3BPP3, Q8NHZ6
    Related
    ENSP00000455405.1, ENST00000566377.5
    Conserved Domains (1) summary
    pfam01238
    Location:6 → 281
    PMI_typeI; Phosphomannose isomerase type I

  2. NM_001289156.2 → NP_001276085.1  mannose-6-phosphate isomerase isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks part of the 5' coding region, and uses a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC125435, AK301370, AW445009, AW813817, BC046357, BX648475
    Consensus CDS
    CCDS73758.1
    UniProtKB/TrEMBL
    B4DW50, F5GX71
    Related
    ENSP00000440447.1, ENST00000535694.5
    Conserved Domains (1) summary
    pfam01238
    Location:1 → 332
    PMI_typeI; Phosphomannose isomerase type I

  3. NM_001289157.2 → NP_001276086.1  mannose-6-phosphate isomerase isoform 4

    See identical proteins and their annotated locations for NP_001276086.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (4) is shorter, compared to isoform 1.
    Source sequence(s)
    AC125435, AW445009, AW813817, BC017351, BX648475, CD706167
    Consensus CDS
    CCDS73757.1
    UniProtKB/TrEMBL
    B4DW50
    Related
    ENSP00000318192.6, ENST00000323744.10
    Conserved Domains (1) summary
    pfam01238
    Location:6 → 321
    PMI_typeI; Phosphomannose isomerase type I

  4. NM_001330372.2 → NP_001317301.1  mannose-6-phosphate isomerase isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site, resulting in a distinct 5' UTR and the use of a downstream start codon, compared to variant 1. The encoded isoform (5) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC125435, AW445009
    Consensus CDS
    CCDS81908.1
    UniProtKB/TrEMBL
    B4DW50, H3BPB8
    Related
    ENSP00000455241.1, ENST00000563786.5
    Conserved Domains (2) summary
    COG1482
    Location:23 → 399
    ManA; Mannose-6-phosphate isomerase, class I [Carbohydrate transport and metabolism]
    pfam01238
    Location:1 → 362
    PMI_typeI; Phosphomannose isomerase type I

  5. NM_002435.3 → NP_002426.1  mannose-6-phosphate isomerase isoform 1

    See identical proteins and their annotated locations for NP_002426.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC125435, AW445009, AW813817, BC046357, BX648475, CD706167
    Consensus CDS
    CCDS10272.1
    UniProtKB/Swiss-Prot
    A8K8K9, P34949, Q96AB0
    UniProtKB/TrEMBL
    B4DW50
    Related
    ENSP00000318318.6, ENST00000352410.9
    Conserved Domains (1) summary
    pfam01238
    Location:6 → 382
    PMI_typeI; Phosphomannose isomerase type I

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    74890042..74902219
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047432536.1 → XP_047288492.1  mannose-6-phosphate isomerase isoform X1

  2. XM_047432537.1 → XP_047288493.1  mannose-6-phosphate isomerase isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    72759851..72772100
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054377961.1 → XP_054233936.1  mannose-6-phosphate isomerase isoform X1

  2. XM_054377962.1 → XP_054233937.1  mannose-6-phosphate isomerase isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P34949.2 GenPept UniProtKB/Swiss-Prot:P34949

Gene LinkOut

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