Metazoan complexes |
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Details of MPI gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| MPI | PMI1 | P34949 | MPI_HUMAN | 4351 | ENSG00000178802 | Mannose-6-phosphate isomerase | SPROT |
Disease | |||||||||
---|---|---|---|---|---|---|---|---|---|
Disease | OMIM id | ||||||||
Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N- glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Congenital disorder of glycosylation type 1B is clinically characterized by protein- losing enteropathy. Note=The disease is caused by mutations affecting the gene represented in this entry. | 602579 |
Phenotypes
Abdominal symptom, Abnormal bleeding, Abnormal glucose homeostasis, Abnormal isoelectric focusing of serum transferrin, Abnormality of blood and blood-forming tissues, Abnormality of body weight, Abnormality of carbohydrate metabolism/homeostasis, Abnormality of circulating hormone level, Abnormality of circulating protein level, Abnormality of coagulation, Abnormality of metabolism/homeostasis, Abnormality of muscle physiology, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the coagulation cascade, Abnormality of the endocrine system, Abnormality of the gastrointestinal tract, Abnormality of the intestine, Abnormality of the intrinsic pathway, Abnormality of the liver, Abnormality of the musculature, Abnormality of the small intestine, Abnormal muscle tone, Abnormal thrombosis, All, Autosomal recessive inheritance, Cirrhosis, Decreased body weight, Decreased liver function, Diarrhea, Failure to thrive, Growth abnormality, Hepatic failure, Hepatic fibrosis, Hepatomegaly, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoalbuminemia, Mode of inheritance, Muscular hypotonia, Nausea and vomiting, Phenotypic abnormality, Protein-losing enteropathy, Reduced antithrombin III activity, Reduced factor XI activity, Type I transferrin isoform profile, Visceromegaly, Vomiting.
Orthologs in other species | |||||||||
---|---|---|---|---|---|---|---|---|---|
M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Mpi | CG8417 | ZK632.4 | Sp-Mpi |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
DAZAP1 | MPI | 0.125671764 | DAZAP1 | MPI | cpx2 | no | no | no | Novel |
FH | MPI | 0.03738073 | FH | MPI | cpx2 | no | no | no | Novel |
GLOD4 | MPI | 0.055975349 | GLOD4 | MPI | cpx2 | no | no | no | Novel |
TIA1 | MPI | 0.133737767 | TIA1 | MPI | cpx2 | no | no | no | Novel |
TIAL1 | MPI | 0.058892135 | TIAL1 | MPI | cpx2 | no | no | no | Novel |
SRI | MPI | 0.070727456 | SRI | MPI | cpx925 | no | no | no | Novel |
MPI | PCBP1 | 0.132328976 | MPI | PCBP1 | cpx2 | no | no | no | Novel |
MPI | PCBP2 | 0.032192784 | MPI | PCBP2 | cpx2 | no | no | no | Novel |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
---|---|---|---|---|
MPI | PITPNB | 0.077156572 | MPI | PITPNB |
NEDD8 | MPI | 0.130329475 | NEDD8 | MPI |
MPI | NECAP1 | 0.090801352 | MPI | NECAP1 |
CAPN9 | MPI | 0.09767133 | CAPN9 | MPI |
HSPE1 | MPI | 0.088543254 | HSPE1 | MPI |
MPI | MIF | 0.090764427 | MPI | MIF |
NANS | MPI | 0.085430084 | NANS | MPI |
MPI | NECAP2 | 0.095377086 | MPI | NECAP2 |
GMPPB | MPI | 0.106869317 | GMPPB | MPI |
SOD1 | MPI | 0.121609726 | SOD1 | MPI |