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. Is expressed in notochord; polster; pronephric duct; and somite. 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
Expression
All Expression Data
8 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
5 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With tsc1a Human Ortholog
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
Associated With tsc1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR007483 Hamartin
Domain Details Per Protein
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations