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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:0050589 | inflammatory bowel disease | |
| DOID:0050819 | obsolete Matthew-Wood syndrome | |
| DOID:0080199 | colorectal carcinoma | |
| DOID:0080520 | Tn polyagglutination syndrome | |
| DOID:10629 | microphthalmia | |
| DOID:10952 | nephritis | |
| DOID:12306 | vitiligo | |
| DOID:12554 | hemolytic-uremic syndrome | |
| DOID:1380 | endometrial cancer | |
| DOID:1425 | pyoureter |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002719 | Recurrent infections |
| HP:0002960 | Autoimmunity |
| HP:0003026 | Short long bone |
| HP:0003259 | Elevated circulating creatinine concentration |
| HP:0003498 | Disproportionate short stature |
| HP:0003593 | Infantile onset |
| HP:0004719 | Hyperechogenic kidneys |
| HP:0004798 | Recurrent infection of the gastrointestinal tract |
| HP:0005272 | Prominent nasolabial fold |
| HP:0005575 | Hemolytic-uremic syndrome |
| Disease ID | Disease Name |
|---|---|
| OMIM:301110 |
|
| OMIM:300622 |
|
PubChem Disease
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 182687 | WB:WBGene00015861 | ||
| 3885645 | FB:FBgn0054057 | ||
| 102362156 | LATCH07988 | ||
| 324052 | ZFIN:ZDB-GENE-030131-2772 | DANRE07511 | |
| 103021755 | ASTMX08817 | ||
| 108269324 | ICTPU33803 | ||
| 113582674 | ELEEL30244 | ||
| 106604434 | SALSA126175 | ||
| 106611522 | SALSA140517 | ||
| 115170090 | SALTR44499 |
