MPI mannose phosphate isomerase [Homo sapiens] - Gene

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Summary

Official Symbol: MPIprovided by HGNC
Official Full Name: mannose phosphate isomeraseprovided by HGNC
Primary source: HGNC:7216
See related: Ensembl:ENSG00000178802; HPRD:01108; MIM:154550; Vega:OTTHUMG00000142826
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; FLJ39201
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. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 15q22-qter

Sequence :: Chromosome: 15; NC_000015.9 (75182410..75190565)

See MPI in Epigenomics, MapViewer

Chromosome 15 - NC_000015.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts
Title: Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts.
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".
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

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Congenital disorder of glycosylation, type Ib

MIM: 602579

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
BioGRID:110491	BioGRID:113164	UBC		BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
isomerase activity	IEA Inferred from Electronic Annotation more info
mannose-6-phosphate isomerase activity	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
GDP-mannose biosynthetic process	TAS Traceable Author Statement more info
carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
cellular protein metabolic process	TAS Traceable Author Statement more info
dolichol-linked oligosaccharide biosynthetic process	TAS Traceable Author Statement more info
metabolic process	IEA Inferred from Electronic Annotation more info
post-translational protein modification	TAS Traceable Author Statement more info
protein N-linked glycosylation via asparagine	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytosol	TAS Traceable Author Statement more info

General protein information

Preferred Names: mannose-6-phosphate isomerase

Names: mannose-6-phosphate isomerase; phosphohexomutase; phosphomannose isomerase 1; mannose-6- phosphate isomerase

NP_002426.1

EC 5.3.1.8

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NCBI Reference Sequences (RefSeq)

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

NG_008921.1 RefSeqGene

Range

5001..13156

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002435.1 → NP_002426.1 mannose-6-phosphate isomerase

Status: REVIEWED

Source sequence(s)

X76057

Consensus CDS

CCDS10272.1

UniProtKB/Swiss-Prot

P34949

Related

ENSP00000318318, OTTHUMP00000183487, ENST00000352410, OTTHUMT00000286418

Conserved Domains (2) summary

PLN02288
Location:9 – 406
Blast Score: 1043

PLN02288; mannose-6-phosphate isomerase

cl15429
Location:6 – 382
Blast Score: 1285

PMI_typeI; Phosphomannose isomerase type I

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000015.9 Reference GRCh37.p5 Primary Assembly

Range

75182410..75190565

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000147.1 Alternate HuRef

Range

51979301..51987407

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC125435.8 (55890..64045)	None
genomic	AF227218.1	AAF37697.1
genomic	CH471136.2	EAW99295.1
		EAW99296.1
		EAW99297.1
		EAW99298.1
mRNA	AF504648.1	AAM28199.1
mRNA	AK096520.1	None
mRNA	AK225149.1	None
mRNA	AK292374.1	BAF85063.1
mRNA	AK294030.1	BAG57385.1
mRNA	AK301370.1	BAG62912.1
mRNA	AK302354.1	BAG63680.1
mRNA	BC017351.2	AAH17351.1
mRNA	BC046357.1	AAH46357.1
mRNA	BX648475.1	None
mRNA	X76057.1	CAA53657.1
other-genetic	HQ448582.1	ADQ33060.1