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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:2871 | endometrial carcinoma | |
| DOID:2914 | immune system disease | |
| DOID:2921 | glomerulonephritis | |
| DOID:2986 | IgA glomerulonephritis | |
| DOID:3571 | liver cancer | |
| DOID:4028 | angioma serpiginosum | |
| DOID:417 | autoimmune disease | |
| DOID:468 | intramuscular hemangioma | |
| DOID:474 | histiocytoid hemangioma | |
| DOID:4766 | embryoma |
- 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 |
|---|---|---|---|
| 115205070 | SALTR109958 | ||
| 115552324 | GADMO01488 | ||
| 101161898 | ORYLA00972 | ||
| 100694593 | ORENI48021 | ||
| 115569115 | SPAAU64356 | ||
| 495031 | Xenbase:XB-GENE-941235 | ||
| 108700090 | Xenbase:XB-GENE-17333314 | ||
| 448225 | Xenbase:XB-GENE-941230 | ||
| 113452561 | PSETE26492 | ||
| 113452563 | PSETE26492 |
