Gene
tmco1
- ID
- ZDB-GENE-050417-344
- Name
- transmembrane and coiled-coil domains 1
- Symbol
- tmco1 Nomenclature History
- Previous Names
-
- sb:cb729
- zgc:110322
- zgc:92740
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to enable calcium channel activity. Involved in calcium ion transmembrane transport and endoplasmic reticulum calcium ion homeostasis. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in endoplasmic reticulum. Is expressed in several structures, including axis; hatching gland; lens; polster; and solid lens vesicle. Human ortholog(s) of this gene implicated in craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1. Orthologous to human TMCO1 (transmembrane and coiled-coil domains 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from Thisse et al., 2001
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb729 (13 images)
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 |
|---|---|---|---|
| craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 | Alliance | Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 | 213980 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Calcium load-activated calcium channel | Integral membrane protein EMC3/TMCO1-like |
|---|---|---|---|
|
UniProtKB:Q6DGW9
|
188 |
Interactions and Pathways
No data available
Plasmids
No data available