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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 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein folding | ||
| dolichol-linked oligosaccharide biosynthetic process | ||
| oligosaccharide biosynthetic process | ||
| oligosaccharide biosynthetic process | ||
| oligosaccharide biosynthetic process |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| endoplasmic reticulum membrane | ||
| membrane |
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- mannose-p-dolichol utilization defect 1 protein
- Functional Category
-
- J: Translation, ribosomal structure and biogenesis
- 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:0000007 | Autosomal recessive inheritance |
| HP:0000233 | Thin vermilion border |
| HP:0000242 | Parietal bossing |
| HP:0000252 | Microcephaly |
| HP:0000260 | Wide anterior fontanel |
| HP:0000486 | Strabismus |
| HP:0000639 | Nystagmus |
| HP:0000648 | Optic atrophy |
| HP:0000803 | Renal cortical cysts |
| HP:0000824 | Decreased response to growth hormone stimulation test |
| 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 |
|---|---|---|---|
| 9526 | ZFIN:ZDB-GENE-040912-9 | ||
| 24070 | ZFIN:ZDB-GENE-040912-9 | MOUSE05688 | |
| 33717 | ZFIN:ZDB-GENE-040912-9 | ||
| 179218 | ZFIN:ZDB-GENE-040912-9 | ||
| 303244 | ZFIN:ZDB-GENE-040912-9 | ||
| 415220 | ZFIN:ZDB-GENE-040625-135 | DANRE40069 | |
| 447806 | ZFIN:ZDB-GENE-040912-9 | ||
| 455217 | PANTR13489 | ||
| 489477 | CANLF15459 | ||
| 504961 | BOVIN12754 |
