Gene
tsc1b
- ID
- ZDB-GENE-030131-3404
- Name
- TSC complex subunit 1b
- Symbol
- tsc1b Nomenclature History
- Previous Names
-
- fc38b04
- wu:fc38b04
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to be involved in negative regulation of TOR signaling; negative regulation of insulin receptor signaling pathway; and regulation of cell cycle. Predicted to localize to TSC1-TSC2 complex. Human ortholog(s) of this gene implicated in intellectual disability; lymphangioleiomyomatosis; tuberous sclerosis; and tuberous sclerosis 1. Orthologous to human TSC1 (TSC complex subunit 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 4 publications
- 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 |
|---|---|---|---|
| lymphangioleiomyomatosis | Alliance | Lymphangioleiomyomatosis | 606690 |
| tuberous sclerosis 1 | Alliance | Tuberous sclerosis-1 | 191100 |
| Focal cortical dysplasia, type II, somatic | 607341 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR007483 | Hamartin |
Domain Details Per Protein
| Protein | Length | Hamartin |
|---|---|---|
|
UniProtKB:E7FEJ0
|
1228 |
Interactions and Pathways
No data available
Plasmids
No data available