loading...| Preferred Name |
Hamartin |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18176 |
| code |
C18176 |
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 |
| Contributing_Source |
CTRP |
| DEFINITION |
Hamartin (1164 aa, ~130 kDa) is encoded by the human TSC1 gene. This protein is involved in the negative regulation of signaling. |
| DesignNote |
A product of the tumor suppressor gene TSC1. Hamartin and tuberin (TSC2) associate physically and may function together in the insulin-signaling pathway. Hamartin may stabilize ubiquitinated tuberin, which contributes to inhibition of cell growth. Loss of hamartin leads to loss of cell adhesion and initiates the development of TSC hamartomas. |
| Display_Name |
Hamartin |
| FULL_SYN |
TSC1 Tuberous Sclerosis 1 Protein Hamartin |
| label |
Hamartin |
| Legacy Concept Name |
Hamartin |
| OMIM_Number |
605284 |
| Preferred_Name |
Hamartin |
| prefixIRI |
Thesaurus:C18176 |
| prefLabel |
Hamartin |
| Semantic_Type |
Amino Acid, Peptide, or Protein |
| Swiss_Prot |
Q92574 |
| UMLS_CUI |
C0663937 |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/PR_000016708 | Protein Ontology / 蛋白质本体 | LOOM |