Tchem PMM2 Phosphomannomutase 2

Protein Classes

PANTHER Classes

Protein / Isomerase / Mutase / Phosphomannomutase 2

Protein Summary

Description

Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq, Jul 2008]

Uniprot Accession IDs

• O15305
• A8K672
• B7Z6R0
• D3DUF3
• PMM 2

Gene Name

• PMM2

Ensembl ID

• ENST00000268261
• ENSP00000268261
• ENSG00000140650
• ENST00000566604
• ENSP00000456774

Symbol

• PMI
• CDG1
• CDGS
• PMI1
• CDG1a
• PMM 2

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
histone modification site profile	0.91
kinase perturbation	0.76
transcription factor binding site profile	0.76
tissue	0.64
gene perturbation	0.6

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 131.15   (req: < 5)

Gene RIFs: 29   (req: <= 3)

Antibodies: 200   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 131.15   (req: >= 5)

Gene RIFs: 29   (req: > 3)

Antibodies: 200   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 1

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Active Ligands (1)

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1 – 1 of 1

CHEMBL51085

PMM2Tchem Enzyme

IC50: 6.17

Protein Data Bank (2)

1 – 2 of 2

PDB Structure Id	Ligand	Method	Resolution (Å)	M.W. (kDa)	Pub Year	Title

PDB Structure Id	M.W.	Resolution	Pub Year

Pathways (21)

Reactome (10)

KEGG (3)

PathwayCommons (4)

UniProt (1)

WikiPathways (3)

Asparagine N-linked glycosylation (R-HSA-446203)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Asparagine N-linked glycosylation	286 targets	R-HSA-446203
Reactome	Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	78 targets	R-HSA-446193
Reactome	Defective PMM2 causes PMM2-CDG (CDG-1a)	1 targets	R-HSA-4043911
Reactome	Disease	1105 targets	R-HSA-1643685
Reactome	Diseases associated with glycosylation precursor biosynthesis	18 targets	R-HSA-5609975

Name	Explore in Pharos	Explore in Source
Asparagine N-linked glycosylation	286 targets	R-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	78 targets	R-HSA-446193
Defective PMM2 causes PMM2-CDG (CDG-1a)	1 targets	R-HSA-4043911
Disease	1105 targets	R-HSA-1643685
Diseases associated with glycosylation precursor biosynthesis	18 targets	R-HSA-5609975

Gene Ontology Terms (9)

Functions (1)

Components (3)

Processes (5)

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GO Term	Evidence	Assigned by
phosphomannomutase activity	Inferred from Biological aspect of Ancestor (IBA)	GO_Central

Protein-Protein Interactions (89)

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1 – 10 of 89

• See Interactions on String-DB

PMM1

Tbio

Family: Enzyme

Novelty: 0.032216

p_int: 1

Score: 0.902

Data Source: BioPlex,STRINGDB

MPI

Tchem

Family: Enzyme

Novelty: 0.00966817

Score: 0.987

Data Source: STRINGDB

GMPPB

Tbio

Family: Enzyme

Novelty: 0.05566338

Score: 0.969

Data Source: STRINGDB

GMPPA

Tbio

Family: Enzyme

Novelty: 0.02186598

Score: 0.937

Data Source: STRINGDB

HK1

Tchem

Family: Kinase

Novelty: 0.00089993

Score: 0.925

Data Source: STRINGDB

HK3

Tbio

Family: Kinase

Novelty: 0.02597641

Score: 0.915

Data Source: STRINGDB

HKDC1

Tbio

Family: Kinase

Novelty: 0.02926931

Score: 0.911

Data Source: STRINGDB

HK2

Tchem

Family: Kinase

Novelty: 0.00222818

Score: 0.911

Data Source: STRINGDB

ALG2

Tbio

Family: Enzyme

Novelty: 0.04124015

Score: 0.85

Data Source: STRINGDB

DPAGT1

Tbio

Family: Enzyme

Novelty: 0.00248803

Score: 0.836

Data Source: STRINGDB

Publication Statistics

PubMed Score  131.15

PubMed score by year

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PubTator Score  158.18

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Amino Acid Sequence

Residue Counts

Protein Sequence

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3D-structure
Acetylation
Alternative splicing
Complete proteome
Congenital disorder of glycosylation
Cytoplasm
Disease mutation
Isomerase
Polymorphism
Reference proteome

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cancer
chronotype measurement
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MGI Phenotype Find Similar Targets

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