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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:0000093 | Proteinuria |
| HP:0000278 | Retrognathia |
| HP:0000322 | Short philtrum |
| HP:0000348 | High forehead |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000431 | Wide nasal bridge |
| HP:0000527 | Long eyelashes |
| HP:0001263 | Global developmental delay |
| HP:0001419 | X-linked recessive inheritance |
| HP:0001442 | Typified by somatic mosaicism |
| Disease ID | Disease Name |
|---|---|
| OMIM:301110 |
|
| OMIM:300622 |
|
PubChem Disease
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 100659442 | LOXAF09705 | ||
| 100055183 | HORSE44736 | ||
| 100511613 | PIGXX37944 | ||
| 531644 | BOVIN36248 | ||
| 102191681 | CAPHI31227 | ||
| 101114753 | SHEEP20135 | ||
| 100340186 | RABIT13849 | ||
| 105986955 | DIPOR09791 | ||
| 100751243 | CRIGR26929 | ||
| 59048 | MGI:1913493 | MOUSE64973 |
