Gene
c1galt1c1
- ID
- ZDB-GENE-030131-2772
- Name
- C1GALT1-specific chaperone 1
- Symbol
- c1galt1c1 Nomenclature History
- Previous Names
-
- fc59b02
- wu:fc17f08
- wu:fc59b02
- zgc:66375
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to have glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity. Predicted to be involved in O-glycan processing, core 1. Human ortholog(s) of this gene implicated in Tn polyagglutination syndrome. Orthologous to several human genes including C1GALT1C1 (C1GALT1 specific chaperone 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6904671 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Tn polyagglutination syndrome | Alliance | Tn polyagglutination syndrome, somatic | 300622 |
| Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature | 301110 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR026050 | C1GALT1/C1GALT1-specific chaperone 1 |
Domain Details Per Protein
| Protein | Length | C1GALT1/C1GALT1-specific chaperone 1 |
|---|---|---|
|
UniProtKB:E7FBK8
|
317 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
c1galt1c1-201
(1)
|
Ensembl | 3,458 nt |
Interactions and Pathways
No data available
Plasmids
No data available