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MIRAGE
mannose-P-dolichol utilization defect 1
Summary
- Gene Symbol
-
- MPDU1
- Aliases
-
- CDGIf
- Lec35
- PQLC5
- SL15
- SLC66A5
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Acetylation
- Alternative splicing
- Congenital disorder of glycosylation
- Disease variant
- Proteomics identification
- Reference proteome
- Repeat
- Transmembrane helix
- Transport
- Proteins
| UniProt | Protein Name |
|---|---|
| A0A0S2Z4W8 |
|
| J3QW43 |
|
| B4DLH7 |
|
| O75352 |
|
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- mannose-P-dolichol utilization defect 1 protein
- Functional Category
-
- E: Amino acid transport and metabolism
- O: Posttranslational modification, protein turnover, chaperones
| Gene Ontology |
|---|
| oligosaccharide biosynthetic process |
| InterPro |
|---|
| Mannose-P-dolichol utilization defect 1 protein |
| PQ-loop repeat |
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0080558 | congenital disorder of glycosylation If |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000958 | Dry skin |
| HP:0000962 | Hyperkeratosis |
| HP:0000964 | Eczematoid dermatitis |
| HP:0001019 | Erythroderma |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| HP:0001276 | Hypertonia |
| HP:0001344 | Absent speech |
| HP:0001371 | Flexion contracture |
| Disease ID | Disease Name |
|---|---|
| ORPHA:79323 |
|
| OMIM:609180 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 101155303 | ORYLA07639 | ||
| 101586946 | OCTDE17069 | ||
| 101611353 | JACJA21141 | ||
| 101681272 | MUSPF10139 | ||
| 101698908 | HETGA02951 | ||
| 101955607 | ICTTR16583 | ||
| 102008298 | CHILA16191 | ||
| 102131053 | MACFA12915 | ||
| 102191171 | CAPHI10395 | ||
| 102427823 | MYOLU16347 |
