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MPI mannose phosphate isomerase [ Homo sapiens (human) ]

Gene ID: 4351, updated on 26-Aug-2014
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
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]
Location:
15q24.1
Exon count:
8
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 15 NC_000015.10 (74890011..74899457)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (75182377..75190581)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene unc-51 like kinase 3 Neighboring gene microRNA 6882 Neighboring gene secretory carrier membrane protein 2 Neighboring gene family with sequence similarity 219, member B Neighboring gene cytochrome c oxidase subunit Va

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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 Protein Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ39201

Gene Ontology Provided by GOA

Function Evidence Code Pubs
mannose-6-phosphate isomerase activity 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 IEA
Inferred from Electronic Annotation
more info
 
GDP-mannose biosynthetic process TAS
Traceable Author Statement
more info
 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
dolichol-linked oligosaccharide biosynthetic process TAS
Traceable Author Statement
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
cytosol TAS
Traceable Author Statement
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
 
Preferred Names
mannose-6-phosphate isomerase
Names
mannose-6-phosphate isomerase
phosphohexomutase
phosphomannose isomerase 1
NP_001276084.1
NP_001276085.1
NP_001276086.1
NP_002426.1

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_008921.1 

    Range
    4943..14389
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to 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
    H3BPP3
    UniProtKB/TrEMBL
    Q8NHZ6
    Related
    ENSP00000455405, OTTHUMP00000249251, ENST00000566377, OTTHUMT00000420284
    Conserved Domains (1) summary
    pfam01238
    Location:6281
    Blast Score: 1005
    PMI_typeI; Phosphomannose isomerase type I
  2. NM_001289156.1NP_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, CD706167
    Consensus CDS
    CCDS73758.1
    UniProtKB/TrEMBL
    B4DW50
    UniProtKB/TrEMBL
    F5GX71
    UniProtKB/Swiss-Prot
    P34949
    Conserved Domains (1) summary
    pfam01238
    Location:1332
    Blast Score: 1139
    PMI_typeI; Phosphomannose isomerase type I
  3. NM_001289157.1NP_001276086.1  mannose-6-phosphate isomerase isoform 4

    See proteins identical to 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/Swiss-Prot
    P34949
    Conserved Domains (2) summary
    COG1482
    Location:9358
    Blast Score: 617
    ManA; Phosphomannose isomerase [Carbohydrate transport and metabolism]
    pfam01238
    Location:6321
    Blast Score: 1104
    PMI_typeI; Phosphomannose isomerase type I
  4. NM_002435.2NP_002426.1  mannose-6-phosphate isomerase isoform 1

    See proteins identical to NP_002426.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC125435, AW445009, AW813817, BC046357, BX648475, CD706167
    Consensus CDS
    CCDS10272.1
    UniProtKB/Swiss-Prot
    P34949
    Conserved Domains (2) summary
    COG1482
    Location:9419
    Blast Score: 562
    ManA; Phosphomannose isomerase [Carbohydrate transport and metabolism]
    pfam01238
    Location:6382
    Blast Score: 1323
    PMI_typeI; Phosphomannose isomerase type I

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000015.10 

    Range
    74890011..74899457
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000147.1 

    Range
    51979243..51988640
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 

    Range
    75300965..75310403
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)