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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
C1GALT1 specific chaperone 1
Summary
- Gene Symbol
-
- C1GALT1C1
- Aliases
-
- C1GALT2
- COSMC
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Chaperone
- Disease variant
- Hemolytic uremic syndrome
- Reference proteome
- Signal-anchor
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| Q96EU7 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| O-glycan processing, core 1 | ||
| protein O-linked glycosylation | ||
| platelet activation | ||
| platelet morphogenesis |
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular exosome | ||
| Golgi membrane |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity | ||
| protein binding |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
GlycoGene Database (GGDB)
- GGDB ID
- gg076
- Gene Symbol
-
- C1GALT1C1
- Orthologous Gene
| Species | Protein | mRNA |
|---|---|---|
| Rattus norvegicus | NP_001025204 | NM_001030033 |
| Mus musculus | NP_067525 | NM_021550 |
KEGG BRITE Database
G57321FI
G00031MO
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:483 | cavernous hemangioma | |
| DOID:4905 | pancreatic carcinoma | |
| DOID:557 | kidney disease | |
| DOID:5672 | large intestine cancer | |
| DOID:6688 | autoimmune lymphoproliferative syndrome | |
| DOID:684 | hepatocellular carcinoma | |
| DOID:9256 | colorectal cancer | |
| DOID:9460 | uterine corpus cancer |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001873 | Thrombocytopenia |
| HP:0001875 | Neutropenia |
| HP:0001877 | Abnormal erythrocyte morphology |
| HP:0001878 | Hemolytic anemia |
| HP:0001882 | Leukopenia |
| HP:0001888 | Lymphopenia |
| HP:0001903 | Anemia |
| HP:0001981 | Schistocytosis |
| HP:0002197 | Generalized-onset seizure |
| HP:0002714 | Downturned corners of mouth |
| Disease ID | Disease Name |
|---|---|
| OMIM:301110 |
|
| OMIM:300622 |
|
PubChem Disease
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 100543008 | MELGA13073 | ||
| 100078534 | ORNAN23515 | ||
| 100934128 | SARHA14695 | ||
| 100397132 | CALJA48361 | ||
| 105598356 | CERAT04976 | ||
| 696662 | MACMU47774 | ||
| 105468418 | MACNE11319 | ||
| 105537543 | MANLE12761 | ||
| 101154347 | GORGO43573 | ||
| 100969207 | PANPA42036 |
