Gene
tsc1a
- ID
- ZDB-GENE-030131-9111
- Name
- TSC complex subunit 1a
- Symbol
- tsc1a Nomenclature History
- Previous Names
-
- fa99f04
- wu:fa99f04
- zgc:63657
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Involved in several processes, including cilium assembly; pronephros development; and regulation of TOR signaling. Localizes to Golgi apparatus. Human ortholog(s) of this gene implicated in intellectual disability; lymphangioleiomyomatosis; tuberous sclerosis; and tuberous sclerosis 1. Is expressed in notochord; polster; pronephric duct; and somite. Orthologous to human TSC1 (TSC complex subunit 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:63657 (12 images)
Wild Type Expression Summary
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:A0A8M2BJK9
|
1137 | |
|
UniProtKB:A0A8M2BJ51
|
1111 | |
|
UniProtKB:A0A8M9Q2X3
|
791 | |
|
UniProtKB:Q7SXZ2
|
1128 |
Interactions and Pathways
No data available
Plasmids
No data available