InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TBC1D7

Summary

InnateDB Protein

IDBP-62107.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TBC1D7

Protein Name

TBC1 domain family, member 7

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000368609

InnateDB Gene

IDBG-62101 (TBC1D7)

Protein Structure

UniProt Annotation

Function

Component of the TSC-TBC complex, that contains TBC1D7 in addition to the TSC1-TSC2 complex and consists of the functional complex possessing GTPase-activating protein (GAP) activity toward RHEB in response to alterations in specific cellular growth conditions. The small GTPase RHEB is a direct activator of the protein kinase activity of mTORC1 and the TSC-TBC complex acts as a negative regulator of mTORC1 signaling cascade by acting as a GAP for RHEB. Participates in the proper sensing of growth factors and glucose, but not amino acids, by mTORC1. It is unclear whether TBC1D7 acts as a GTPase-activating protein and additional studies are required to answer this question. {ECO:0000269PubMed:22795129}.

Subcellular Localization

Cytoplasmic vesicle {ECO:0000269PubMed:17658474}. Note=Localizes in the cytoplasmic vesicles of the endomembrane in association with TSC1-TSC2 complex.

Disease Associations

Megalencephaly, autosomal recessive (MGCPH) [MIM:248000]: A disorder characterized by abnormal enlargement of the cerebral hemispheres, mental retardation, large head, optic atrophy and underdeveloped skeletal musculature. Head enlargement may be evident at birth or the head may become abnormally large in the early years of life. {ECO:0000269PubMed:23687350, ECO:0000269PubMed:24515783}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=TBC1D7 mutations are a cause of autosomal recessive megalencephaly-like syndrome (MGCPH-like). Clinical features include macrocephaly, mild intellectual disability, osteo- articular defects, patella dislocation, behavioral abnormalities, psychosis, learning difficulties, celiac disease, prognathism, myopia and astigmatism (PubMed:24515783). {ECO:0000269PubMed:24515783}.

Tissue Specificity

Highly expressed in heart, and slightly in kidney, liver and placenta. {ECO:0000269PubMed:17658474}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	17 [view]
Protein-Protein	17 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005097	Rab GTPase activator activity
GO:0005515	protein binding

Biological Process

GO:0031398	positive regulation of protein ubiquitination
GO:0032007	negative regulation of TOR signaling
GO:0032313	regulation of Rab GTPase activity
GO:0032851	positive regulation of Rab GTPase activity
GO:0032862	activation of Rho GTPase activity
GO:0070848	response to growth factor