Tsc1 - TSC complex subunit 1 Gene
Species: Mus musculus
Summary
Enables ATPase inhibitor activity and protein N-terminus binding activity. Involved in associative learning; negative regulation of ATPase activity; and protein stabilization. Acts upstream of or within several processes, including animal organ development; negative regulation of cell size; and nervous system development. Located in cytoplasm. Is active in postsynaptic density. Is expressed in several structures, including central nervous system; genitourinary system; hepatic primordium; liver; and retina. Used to study anterior segment dysgenesis; autism spectrum disorder; autosomal recessive polycystic kidney disease; and tuberous sclerosis. 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). [provided by Alliance of Genome Resources, Apr 2022]
Tsc1 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001289575.2 | NP_001276504.1 | hamartin isoform 1 |
| NM_001289576.2 | NP_001276505.1 | hamartin isoform 3 |
| NM_022887.5 | NP_075025.2 | hamartin isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables ATPase inhibitor activity |
IMP
IMP: Inferred from mutant phenotype
|
29127155 | MGI |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
10806479 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
11741832 | MGI |
| is active in postsynaptic density |
EXP
EXP: Inferred from Experiment
|
25211037 | MGI |
| is active in postsynaptic density |
IDA
IDA: Inferred from direct assay
|
25211037 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
hamartin |
|
Tsc1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
Tsc1 | Q9EP53 | Tsc2 | Mus musculus | Q61037 | 28671696 | |
|
Intra
|
Tsc1 | Q9EP53 | Tsc2 | Mus musculus | Q61037 | 20412061 |