TBC1 Domain Family Member 7

Preferred Label : TBC1 Domain Family Member 7;

NCIt synonyms : Cell Migration-Inducing Protein 23; TBC1D7;

NCIt definition : TBC1 domain family member 7 (293 aa, 34 kDa) is encoded by the human TBC1D7 gene. This protein plays a role in GTPase-activating protein activity for GTP-binding protein Rheb and inhibition of the mTORC1 signaling cascade.;

NCIt note : The tuberous sclerosis complex (TSC) protein complex (TSCC) is comprised of hamartin (TSC1), tuberin (TSC2) and a member of the TBC1 domain family (TBC1D); the inclusion of TBC1 domain family member 7 (TBC1D7) in the TSCC complex appears to determine its specificity for the GTP-binding protein Rheb.;

PubMed : 3330709; 22795129;

Details

Origin ID

C191810;

UMLS CUI

C1999717;

OMIM relation
- Tbc1 domain family, member 7 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- TBC1D7 protein, human [MeSH Supplementary Concept]
- TBC1D7 protein, human [MeSH concept]
gene_encodes_gene_product
- Signaling Pathway Gene [NCIt concept]
- TBC1D7 Gene [NCIt concept]
gene_product_has_associated_anatomy
- Basal Body [NCIt concept]
- Cellular Vesicle [NCIt concept]
gene_product_is_element_in_pathway
- mTOR Signaling Pathway KEGG [NCIt concept]
gene_product_plays_role_in_biological_process
- Intracellular Signaling Process [NCIt concept]
- Microtubule Process [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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