Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4351
Gene name	Mannose phosphate isomerase
Gene symbol	MPI
Synonyms (NCBI Gene)	CDG1BPMIPMI1
Chromosome	15
Chromosome location	15q24.1-q24.2
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

Show/Hide all (30)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28928906	G>A	Pathogenic	Intron variant, missense variant, coding sequence variant
rs104894489	G>A,C	Pathogenic-likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs104894494	C>T	Pathogenic	Missense variant, coding sequence variant
rs104894495	T>C	Pathogenic	Missense variant, coding sequence variant
rs139228075	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs143982014	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant, 5 prime UTR variant
rs150217523	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs199972529	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs528828174	A>G,T	Likely-pathogenic, uncertain-significance	Missense variant, initiator codon variant, 5 prime UTR variant
rs749911553	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs759579169	G>A,C	Likely-pathogenic	Intron variant, splice acceptor variant
rs786204593	->C	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs863225086	A>G	Pathogenic	3 prime UTR variant, coding sequence variant, missense variant
rs863225087	G>A	Pathogenic	3 prime UTR variant, coding sequence variant, missense variant
rs1057516424	A>T	Likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs1057516466	C>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1057516550	T>-	Likely-pathogenic	Splice donor variant
rs1057516573	G>A,C	Likely-pathogenic	Splice acceptor variant
rs1057517115	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1394866894	G>A	Likely-pathogenic	Splice donor variant
rs1452559752	C>T	Likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1555478015	CATG>-	Likely-pathogenic	Initiator codon variant, frameshift variant, 5 prime UTR variant
rs1555478118	TGTTGGCCAGCAGTGATCCACTGGC>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1555478333	G>A	Likely-pathogenic	Splice donor variant
rs1555478582	C>-	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs1555478606	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1555479227	AT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555479341	A>-	Likely-pathogenic	Splice acceptor variant, intron variant
rs1555479351	->G	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1595822583	G>A	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all (72)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029256	hsa-miR-26b-5p	Microarray	19088304
MIRT044606	hsa-miR-320a	CLASH	23622248
MIRT043122	hsa-miR-324-5p	CLASH	23622248
MIRT037312	hsa-miR-877-5p	CLASH	23622248
MIRT036858	hsa-miR-877-3p	CLASH	23622248
MIRT1156139	hsa-miR-3650	CLIP-seq
MIRT1156140	hsa-miR-4433	CLIP-seq
MIRT1156141	hsa-miR-4455	CLIP-seq
MIRT1156142	hsa-miR-4459	CLIP-seq
MIRT1156143	hsa-miR-4768-3p	CLIP-seq
MIRT1156144	hsa-miR-609	CLIP-seq
MIRT2044663	hsa-miR-3179	CLIP-seq
MIRT2044664	hsa-miR-3202	CLIP-seq
MIRT2044665	hsa-miR-3652	CLIP-seq
MIRT2044666	hsa-miR-4430	CLIP-seq
MIRT1156140	hsa-miR-4433	CLIP-seq
MIRT1156142	hsa-miR-4459	CLIP-seq
MIRT2044667	hsa-miR-4476	CLIP-seq
MIRT2044668	hsa-miR-4724-3p	CLIP-seq
MIRT1156143	hsa-miR-4768-3p	CLIP-seq
MIRT2273905	hsa-miR-1184	CLIP-seq
MIRT2273906	hsa-miR-1205	CLIP-seq
MIRT2273907	hsa-miR-1238	CLIP-seq
MIRT2273908	hsa-miR-1301	CLIP-seq
MIRT2273909	hsa-miR-139-5p	CLIP-seq
MIRT2273910	hsa-miR-204	CLIP-seq
MIRT2273911	hsa-miR-211	CLIP-seq
MIRT2273912	hsa-miR-30a	CLIP-seq
MIRT2273913	hsa-miR-30b	CLIP-seq
MIRT2273914	hsa-miR-30c	CLIP-seq
MIRT2273915	hsa-miR-30d	CLIP-seq
MIRT2273916	hsa-miR-30e	CLIP-seq
MIRT2273917	hsa-miR-3124-3p	CLIP-seq
MIRT2273918	hsa-miR-3158-5p	CLIP-seq
MIRT2273919	hsa-miR-3618	CLIP-seq
MIRT2273920	hsa-miR-3915	CLIP-seq
MIRT2273921	hsa-miR-3928	CLIP-seq
MIRT2273922	hsa-miR-4474-5p	CLIP-seq
MIRT2273923	hsa-miR-4660	CLIP-seq
MIRT2273924	hsa-miR-4691-5p	CLIP-seq
MIRT2273925	hsa-miR-4755-5p	CLIP-seq
MIRT2273926	hsa-miR-5047	CLIP-seq
MIRT2273927	hsa-miR-623	CLIP-seq
MIRT2572779	hsa-miR-155	CLIP-seq
MIRT2273912	hsa-miR-30a	CLIP-seq
MIRT2273913	hsa-miR-30b	CLIP-seq
MIRT2273914	hsa-miR-30c	CLIP-seq
MIRT2273915	hsa-miR-30d	CLIP-seq
MIRT2273916	hsa-miR-30e	CLIP-seq
MIRT2044665	hsa-miR-3652	CLIP-seq
MIRT2572780	hsa-miR-3929	CLIP-seq
MIRT2572781	hsa-miR-4279	CLIP-seq
MIRT2572782	hsa-miR-4419b	CLIP-seq
MIRT2044666	hsa-miR-4430	CLIP-seq
MIRT2572783	hsa-miR-4478	CLIP-seq
MIRT2572784	hsa-miR-4663	CLIP-seq
MIRT2572785	hsa-miR-4728-3p	CLIP-seq
MIRT2572786	hsa-miR-4731-5p	CLIP-seq
MIRT2572787	hsa-miR-4757-5p	CLIP-seq
MIRT2572788	hsa-miR-602	CLIP-seq
MIRT2572789	hsa-miR-610	CLIP-seq
MIRT2572779	hsa-miR-155	CLIP-seq
MIRT2572781	hsa-miR-4279	CLIP-seq
MIRT2685222	hsa-miR-4426	CLIP-seq
MIRT2685223	hsa-miR-4647	CLIP-seq
MIRT2685224	hsa-miR-4662b	CLIP-seq
MIRT2572784	hsa-miR-4663	CLIP-seq
MIRT2572785	hsa-miR-4728-3p	CLIP-seq
MIRT2572786	hsa-miR-4731-5p	CLIP-seq
MIRT2572787	hsa-miR-4757-5p	CLIP-seq
MIRT2572788	hsa-miR-602	CLIP-seq
MIRT2572789	hsa-miR-610	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004476	Function	Mannose-6-phosphate isomerase activity	IBA
GO:0004476	Function	Mannose-6-phosphate isomerase activity	IDA	8307007
GO:0004476	Function	Mannose-6-phosphate isomerase activity	IEA
GO:0004476	Function	Mannose-6-phosphate isomerase activity	IMP	9525984
GO:0004476	Function	Mannose-6-phosphate isomerase activity	TAS	8307007
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009298	Process	GDP-mannose biosynthetic process	IBA
GO:0009298	Process	GDP-mannose biosynthetic process	IEA
GO:0009298	Process	GDP-mannose biosynthetic process	TAS
GO:0016853	Function	Isomerase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0061611	Process	Mannose to fructose-6-phosphate catabolic process	IDA	8307007
GO:0061611	Process	Mannose to fructose-6-phosphate catabolic process	IEA
GO:0061611	Process	Mannose to fructose-6-phosphate catabolic process	IEA
GO:0061611	Process	Mannose to fructose-6-phosphate catabolic process	IMP	9525984
GO:0061729	Process	GDP-D-mannose biosynthetic process from fructose-6-phosphate	IMP	9525984
GO:0070062	Component	Extracellular exosome	HDA	23533145

MIM	HGNC	e!Ensembl
154550	7216	ENSG00000178802

P34949

Protein name

Mannose-6-phosphate isomerase (EC 5.3.1.8) (Phosphohexomutase) (Phosphomannose isomerase) (PMI)

Protein function

Isomerase that catalyzes the interconversion of fructose-6-P and mannose-6-P and has a critical role in the supply of D-mannose derivatives required for many eukaryotic glycosylation reactions. {ECO:0000269|PubMed:8307007, ECO:0000305|PubMed:952

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01238	PMI_typeI	6 → 382	Phosphomannose isomerase type I	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in all tissues, but more abundant in heart, brain and skeletal muscle. {ECO:0000269|PubMed:8307007}.

Sequence

MAAPRVFPLSCAVQQYAWGKMGSNSEVARLLASSDPLAQIAEDKPYAELWMGTHPRGDAK
ILDNRISQKTLSQWIAENQDSLGSKVKDTFNGNLPFLFKVLSVETPLSIQAHPNKELAEK
LHLQAPQHYPDANHKPEMAIALTPFQGLCGFRPVEEIVTFLKKVPEFQFLIGDEAATHLK
QTMSHDSQAVASSLQSCFSHLMKSEKKVVVEQLNLLVKRISQQAAAGNNMEDIFGELLLQ
LHQQYPGDIGCFAIYFLNLLTLKPGEAMFLEANVPHAYLKGDCVECMACSDNTVRAGLTP
KFIDVPTLCEMLSYTPSSSKDRLFLPTRSQEDPYLSIYDPPVPDFTIMKTEVPGSVTEYK
VLALDSASILLMVQGTVIASTPTTQTPIPLQRGGVLFIGANESVSLKLTEPKDLLIFRAC
CLL

Sequence length

423

Interactions

View interactions

	KEGG		Reactome
	Fructose and mannose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways Biosynthesis of cofactors Biosynthesis of nucleotide sugars		Defective MPI causes MPI-CDG (CDG-1b) Synthesis of GDP-mannose

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
MPI-congenital disorder of glycosylation	Likely pathogenic; Pathogenic	rs1225376562, rs2064839839, rs1057516573, rs2141208628, rs2141209567, rs2141208718, rs1661886822, rs2141200280, rs2141200617, rs745432667, rs2141206921, rs2141206676, rs2141197839, rs1567268668, rs765310894 View all (92 more)	RCV001310276 RCV001390335 RCV001377852 RCV001379468 RCV001377577 View all (109 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MPI-related disorder	Pathogenic	rs104894489	RCV004742227	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CARBOHYDRATE METABOLISM, INBORN ERRORS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1B	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDERS OF GLYCOSYLATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF CARBOHYDRATE METABOLISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

MPI (mannose phosphate isomerase)