Gene
tcof1
- ID
- ZDB-GENE-141219-12
- Name
- treacle ribosome biogenesis factor 1
- Symbol
- tcof1 Nomenclature History
- Previous Names
-
- si:ch73-308l14.2
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Human ortholog(s) of this gene implicated in Treacher Collins syndrome. Orthologous to human TCOF1 (treacle ribosome biogenesis factor 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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 |
|---|---|---|---|
| Treacher Collins syndrome 1 | Alliance | Treacher Collins syndrome 1 | 154500 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR006594 | LIS1 homology motif |
Domain Details Per Protein
| Protein | Length | LIS1 homology motif |
|---|---|---|
|
UniProtKB:E7F9D9
|
628 | |
|
UniProtKB:A0A8M9QB70
|
600 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
si:ch73-308l14.2-201
(1)
|
Ensembl | 2,403 nt | ||
| mRNA |
si:ch73-308l14.2-202
(1)
|
Ensembl | 2,194 nt |
Interactions and Pathways
No data available
Plasmids
No data available