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
Expression
All Expression Data
4 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With tsc1b 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 tsc1b 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
Protein Length Hamartin
UniProtKB:E7FEJ0 1228
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA tsc1b-201 (1) Ensembl 5,515 nt
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