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    MPI mannose phosphate isomerase [ Homo sapiens (human) ]

    Gene ID: 4351, updated on 27-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
    mouse all
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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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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