MPI Gene
protein-coding GIFtS: 65
GCID: GC15P075182
|
|
mannose phosphate isomerase
| |
Aliases
for MPI gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Mannose Phosphate Isomerase1 2 | | Mannose-6-Phosphate Isomerase2 | | PMI12 3 5 | | Phosphohexomutase3 | | PMI2 3 | | Phosphomannose Isomerase 12 | | EC 5.3.1.83 8 | | Phosphohexomutase3 | | CDG1B2 5 | | Phosphomannose Isomerase3 | | Mannose-6- Phosphate Isomerase2 | | EC 5.3.18 |
Export aliases for MPI gene to outside databasesPrevious GC identifers: GC15U990034 GC15P068297 GC15P072758 GC15P072898 GC15P072969 GC15P051979 |
Summaries
for MPI gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for MPI:
Phosphomannose isomerase catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate and plays acritical 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. (providedby RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: MPI_HUMAN, P34949Function: Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of criticalmannosyl transfer reactions
|
Genomic Views
for MPI gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000015.9 NC_018926.1 NT_010194.17
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the MPI gene promoter:
STAT5B STAT1 STAT4 STAT1beta STAT5A STAT1alpha CHOP-10 STAT2 STAT3 RSRFC4
Other transcription factors
Search SABiosciences Chromatin IP Primers for MPI
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MPI |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 15q22-qter Ensembl cytogenetic band: 15q24.1 HGNC cytogenetic band: 15q22-qterMPI Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 15 GeneLoc Exon Structure GeneLoc location for GC15P075182: view genomic region
(about GC identifiers)
Start:
|
75,182,346 bp from pter |
End:
|
75,191,798 bp from pter |
Size:
|
9,453 bases |
Orientation:
|
plus strand |
|
Proteins
for MPI gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: MPI_HUMAN, P34949 (See
protein sequence)Recommended Name: Mannose-6-phosphate isomerase Size: 423 amino acids; 46656 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subcellular location: Cytoplasm (Probable)
Secondary accessions: A8K8K9 Q96AB0Alternative splicing: 2 isoforms: P34949-1 P34949-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for MPI: NX_P34949
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P34949
4/13 DME Specific Peptides for MPI (P34949) (see all 13)
MPI Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_002426.1
ENSEMBL proteins: ENSP00000455161 ENSP00000318318 ENSP00000455405 ENSP00000454622 ENSP00000455972 ENSP00000455383 ENSP00000457494 ENSP00000454267 ENSP00000457885 ENSP00000454312 ENSP00000457619 ENSP00000455241 ENSP00000440447 ENSP00000318192 ENSP00000455065 ENSP00000457020 ENSP00000454619 ENSP00000455477 ENSP00000457013 Reactome Protein details: P34949
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
MPI for ontologies About GeneDecksing
MPI Antibody Products:
Assay Products for MPI: |
Protein
Domains /
Families
for MPI gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MPI for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P34949ProtoNet protein and cluster: P34949 1 Blocks protein family: IPB001250 Mannose-6-phosphate isomerase
UniProtKB/Swiss-Prot: MPI_HUMAN, P34949Similarity: Belongs to the mannose-6-phosphate isomerase type 1 family |
Function
for MPI gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: MPI_HUMAN, P34949Function: Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of criticalmannosyl transfer reactionsCatalytic activity: D-mannose 6-phosphate = D-fructose 6-phosphate Genatlas biochemistry entry for MPI:mannose phosphate isomerase
Enzyme Numbers (IUBMB): EC 5.3.1.81 2 EC 5.3.12
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MPI (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MPI (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: MPI (NM_002435) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MPI | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MPI |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPI |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004476 | mannose-6-phosphate isomerase activity |
IEA | -- | | GO:0008270 | zinc ion binding |
IEA | -- |
MPI for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for MPI:
Animal Models:
10 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Mpi):
MPI for phenotypes About GeneDecksing
|
Pathways & Interactions
for MPI gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Asparagine N-linked glycosylation | | | 2 | GDP-mannose biosynthesis | | | 3 | Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein | | | 4 | D-mannose degradation | | | 5 | Amino sugar and nucleotide sugar metabolism | |
Pathway sources
See GeneCards unified pathways
Show all pathways
3  BioSystems Pathways for MPI
5/6 
Reactome Pathways for MPI (see all 6)
3 
Kegg Pathways (Kegg details for MPI):
UniProtKB/Swiss-Prot: MPI_HUMAN, P34949Pathway: Nucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; alpha-D-mannose 1-phosphate from D-fructose6-phosphate: step 1/2
MPI for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MPI
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/86 Interacting proteins for MPI (P349493 ENSP000003183184) via UniProtKB, MINT, STRING, and/or I2D (see all 86)
About this table
Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005975 | carbohydrate metabolic process |
-- | -- | | GO:0006488 | dolichol-linked oligosaccharide biosynthetic process |
TAS | -- | | GO:0009298 | GDP-mannose biosynthetic process |
TAS | -- | | GO:0018279 | protein N-linked glycosylation via asparagine |
TAS | -- | | GO:0043687 | post-translational protein modification |
TAS | -- |
MPI for ontologies About GeneDecksing
|
Drugs & Compounds
for MPI gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
MPI for compounds About GeneDecksing
 Browse Tocris compounds for MPI
4 HMDB Compounds for MPI About this table
10/16 Novoseek chemical compound relationships for MPI gene (see all 16) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| fructose-6-phosphate |
86.7 |
10 |
19574302 (2), 8381960 (1), 16131071 (1), 12023200 (1) (see all 8) |
| mannose 6-phosphate |
85.2 |
23 |
8381960 (2), 16488169 (2), 19574302 (2), 19157945 (2) (see all 11) |
| 6-phosphogluconate |
80.3 |
5 |
1471744 (1), 7570863 (1), 18817779 (1), 8625862 (1) (see all 5) |
| mannose |
80.2 |
18 |
12434892 (3), 9287314 (2), 19157945 (2), 11687298 (2) (see all 8) |
| malate |
61.5 |
4 |
2091345 (1), 18817779 (1), 8625862 (1), 7810807 (1) |
| glucose 6-phosphate |
60.6 |
8 |
8381960 (2), 1471744 (1), 18817779 (1), 8625862 (1) (see all 6) |
| isocitrate |
56.5 |
3 |
1471744 (1), 8625862 (1), 17027989 (1) |
| cellulose acetate |
49.7 |
2 |
2091345 (2) |
| nucleoside |
45.8 |
4 |
1471744 (1), 7570863 (1), 8625862 (1), 7810807 (1) |
| fumarate |
42.8 |
2 |
7810807 (1), 17027989 (1) |
Search CenterWatch for drugs/clinical trials and news about MPI
|
Transcripts
for MPI gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for MPI gene: NM_002435.1 Unigene Cluster for MPI: Mannose phosphate isomerase Hs.75694 [show with all ESTs]Unigene Representative Sequence: BX64847518/23 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23): ENST00000569931 ENST00000352410(uc002azc.1 uc010ulx.1) ENST00000566377(uc002azd.1)
ENST00000569233 ENST00000567132 ENST00000564633 ENST00000568907 ENST00000561470
ENST00000563422(uc010ulv.2) ENST00000564003(uc010ulw.2) ENST00000562800
ENST00000563786 ENST00000535694 ENST00000323744(uc002aze.1) ENST00000567116
ENST00000568303 ENST00000568828 ENST00000562606
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MPI (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MPI (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: MPI (NM_002435) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MPI | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MPI |
Additional cDNA sequence: AF504648.1 AK096520.1 AK225149.1 AK292374.1 AK294030.1 AK301370.1 AK302354.1 BC017351.2 BC046357.1 BX648475.1 X76057.1 23 DOTS entries: DT.100816319 DT.95345340 DT.456396 DT.121081914 DT.70104553 DT.421638 DT.121081912 DT.95345342 DT.100650489 DT.121081921 DT.100816313 DT.70100319 DT.100816320 DT.121081927 DT.40251386 DT.95140045 DT.100701227 DT.100842222 DT.101958355 DT.121081905 DT.121081910 DT.121081925 DT.91754202 24/283 AceView cDNA sequences (see all 283): BQ069734 BP334732 NM_002435 AI186646 BU902055 BM836891 BP357065 BE206499 BX364196 BM468603 CB242133 BM802202 AW072360 BM988234 AA350316 BE278834 BP355228 BG333150 F04326 CF272348 BM789157 N93491 BQ022184 BI754727
GeneLoc Exon Structure
5/16 Alternative Splicing Database (ASD) splice patterns (SP) for MPI (see all 16) About this scheme
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3a | · | 3b | · | 3c | · | 3d | · | 3e | ^ | 4a | · | 4b | · | 4c | · | 4d | · | 4e | ^ | 5a | · | 5b | · | 5c | · | 5d | · | 5e | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8a | · |
|---|
|
| SP1: | | | - | | - | | | | | | - | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | - | | | | | | |
| SP2: | | | - | | - | | - | | | | - | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | - | | - | | - | | - | | - | | - | | | | | | - | | | | | | |
| SP4: | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | - | | - | | | | |
| SP5: | | | - | | | | | | | | - | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 8b |
|---|
|
| SP1: | | | |
| SP2: | | | |
| SP3: | | | |
| SP4: | | | |
| SP5: | | |
ECgene alternative splicing isoforms for MPI
|
Expression
for MPI gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| MPI expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See MPI Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MPI
SOURCE GeneReport for Unigene cluster: Hs.75694
UniProtKB/Swiss-Prot: MPI_HUMAN, P34949Tissue specificity: Expressed in all tissues, but more abundant in heart, brain and skeletal muscle
SABiosciences Custom PCR Arrays for MPI
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MPI
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MPI | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MPI | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MPI | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPI |
Orthologs
for MPI gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for MPI gene from 11/35 species (see all 35) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Mpi1 , 5 |
mannose phosphate isomerase1, 5 |
87(n)1
84.63(a)1 |
|
9 (31.05 cM)5
1101191 NM_025837.21 NP_080113.11
575442565 |
chicken
(Gallus gallus) |
Aves |
MPI1 |
mannose phosphate isomerase |
68.5(n)
63.16(a) |
|
769765 XM_001233063.2 XP_001233064.2 |
lizard
(Anolis carolinensis) |
Reptilia |
MPI6 |
-- |
67(a) |
1 ↔ 1 |
GL343492.1(574750-581829) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.44562 |
Xenopus laevis transcribed sequence with weak similarity more |
76.08(n) |
|
AW640064.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
mpi1 |
mannose phosphate isomerase |
65.72(n)
63.51(a) |
|
613246 NM_001033110.1 NP_001028282.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG84171 , 3 |
mannose-6-phosphate isomerase3
CG84171 |
37(a)3
51.35(n)1
40.54(a)1 |
|
85E63
411921 NM_141683.21 NP_649940.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
ZK632.41 , 3 |
Mannose 6-phosphate isomerase3
Protein ZK632.41 |
40(a)
(best of 2)3
49.91(n)1
43.81(a)1 |
|
III(9877426-9879168)3
1763881 NM_066773.31 NP_499174.31 |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
PMI40(YER003C)4
PMI401 |
Mannose-6-phosphate isomerase, catalyzes the interconversion more4
Pmi40p1 |
48.98(n)1
41.77(a)1 |
|
5(159118-157736)4
8567201, 4 NP_010918.11, 4 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
DIN91 |
mannose-6-phosphate isomerase |
49.41(n)
43.65(a) |
|
843027 NM_105377.4 NP_176878.1 |
rice
(Oryza sativa) |
Liliopsida |
Os.347782 |
Oryza sativa (japonica cultivar-group) cDNA cloneJ more |
71.87(n) |
|
AK070177.1 |
ENSEMBL Gene Tree for MPI (if available)
TreeFam Gene Tree for MPI (if available) |
Paralogs
for MPI gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for MPI gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 15 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for MPI (75182346 - 75191798 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for MPI
1 Inversion: 37170
Human Gene Mutation Database (HGMD): MPI
Locus Specific Mutation Databases (LSDB): MPI
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MPI |
|
Disorders
/ Diseases
for MPI gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
MPI for disorders About GeneDecksing
OMIM gene information: 154550
OMIM disorders: 602579
UniProtKB/Swiss-Prot: MPI_HUMAN, P34949
Defects in MPI are the cause of congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]; also knownas carbohydrate-deficient glycoprotein syndrome type Ib (CDGS1B). Congenital disorders of glycosylation are metabolicdeficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. They arecharacterized by under-glycosylated serum glycoproteins. CDG1B is clinically characterized by protein-losingenteropathy
13  diseases for MPI: About MalaCardsprotein-losing enteropathy bovine spongiform encephalopathy congenital disorder of glycosylation type 1b congenital disorder of glycosylation
cutaneous leishmaniasis leishmaniasis onchocerciasis ovarian cancer
fibrosis tuberculosis hepatitis malaria
mycobacterium tuberculosis
2 diseases from the University of Copenhagen DISEASES database for MPI:Glanzmann's thrombasthenia protein-losing enteropathy 5 Novoseek disease relationships for MPI gene About this table
GeneTests: MPI
Congenital Disorders of Glycosylation
Human Genome Epidemiology (HuGE) Navigator: MPI (3 documents)
Export disorders for MPI gene to outside databases
|
Publications
for MPI gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for MPI gene, integrated from 9 sources (see all 65):
(articles sorted by number of sources associating them with MPI) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib). (PubMed id 10980531)1, 2, 9 Schollen E....Matthijs G. (2000)
- Purification, cDNA cloning and heterologous expression of human phosphomannose isomerase. (PubMed id 8307007)1, 2, 9 Proudfoot A.E.I.... Smith D.J. (1994)
- Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation. (PubMed id 11350186)1, 2, 9 Westphal V....Freeze H.H. (2001)
- DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG). (PubMed id 12357336)1, 2, 9 Schollen E.... Matthijs G. (2002)
- Carbohydrate-deficient glycoprotein syndrome type Ib: phosphomannose isomerase deficiency and mannose therapy. (PubMed id 9525984)1, 2, 9 Niehues R.... Marquardt T. (1998)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib. (PubMed id 12414827)1, 2 Vuillaumier-Barrot S....Seta N. (2002)
- A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. (PubMed id 11134235)1, 2 de Lonlay P.... Cormier-Daire V. (2001)
- Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation. (PubMed id 9585601)1, 2 Jaeken J.... Van Schaftingen E. (1998)
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External Searches for MPI gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing MPI gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
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Other Databases showing MPI gene
(According to HUGE)
About This Section
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Specialized Databases showing MPI gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
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| Name | Description |
| PharmGKB entry for MPI | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MPI |
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About This Section
| Patent Information for MPI gene:
Search GeneIP for patents involving MPI
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for MPI gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | OriGene Antibodies for MPI | | OriGene shRNA RFP for MPI | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MPI | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MPI | | | OriGene Protein Over-expression Lysate for MPI | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for MPI | | OriGene 3'-UTR Clone for MPI | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MPI | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MPI | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for MPI | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for MPI | | OriGene Custom Protein Services for MPI | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MPI | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MPI | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MPI | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MPI | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MPI | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MPI |
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| | | | Search Tocris compounds for MPI |
| |  |  |  |  | | | | | | Recombinant Protein for MPI |
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 | | | MPI Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPI |
|  |  |  | | | | ThermoFisher Antibodies for MPI |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MPI |
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