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MIRAGE
protein O-glucosyltransferase 1
Summary
- Gene Symbol
-
- POGLUT1
- Aliases
-
- 9630046K23Rik
- KDELC family like 1
- KDELCL1
- MDS010
- MDSRP
- MGC32995
- Rumi
- hCLP46
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Direct protein sequencing
- Disease variant
- Disulfide bond
- Endoplasmic reticulum
- Gastrulation
- Glycoprotein
- Glycosyltransferase
- Limb-girdle muscular dystrophy
- Reference proteome
- Signal
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| somitogenesis | ||
| protein glycosylation |
|
|
| protein O-linked glycosylation | ||
| protein O-linked glycosylation | ||
| gastrulation |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| endoplasmic reticulum | ||
| endoplasmic reticulum lumen | ||
| endomembrane system |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| glycosyltransferase activity |
|
|
| UDP-glucosyltransferase activity | ||
| UDP-glucosyltransferase activity | ||
| UDP-glucosyltransferase activity | ||
| UDP-xylosyltransferase activity |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- O-glucosyltransferase
- Functional Category
-
- E: Amino acid transport and metabolism
- M: Cell wall/membrane/envelope biogenesis
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| transferase activity |
| InterPro |
|---|
| Glycosyl transferase CAP10 domain |
GlycoGene Database (GGDB)
- GGDB ID
- gg208
- Gene Symbol
-
- POGLUT1
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060256 | Dowling-Degos disease | |
| DOID:0080762 | autosomal recessive limb-girdle muscular dystrophy type 2Z |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000464 | Abnormality of the neck |
| HP:0000962 | Hyperkeratosis |
| HP:0000989 | Pruritus |
| HP:0001034 | Hypermelanotic macule |
| HP:0001155 | Abnormality of the hand |
| HP:0001231 | Abnormal fingernail morphology |
| HP:0001369 | Arthritis |
| HP:0002046 | Heat intolerance |
| Disease ID | Disease Name |
|---|---|
| OMIM:615696 |
|
| ORPHA:79145 |
|
| OMIM:617232 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 42698 | FB:FBgn0051139 | ||
| 56983 | ZFIN:ZDB-GENE-051120-24 | ||
| 224143 | ZFIN:ZDB-GENE-051120-24 | MOUSE17521 | |
| 288091 | ZFIN:ZDB-GENE-051120-24 | ||
| 326122 | ZFIN:ZDB-GENE-051120-24 | ||
| 460605 | PANTR31903 | ||
| 511862 | BOVIN14550 | ||
| 641495 | ZFIN:ZDB-GENE-051120-24 | DANRE17202 | |
| 712357 | MACMU28874 | ||
| 100016192 | MONDO21016 |
