TBC1D7
entrez
51256
canonical
uniprot
Q9P0N9
canonical
ensembl
ENSG00000145979
resolver
ensp
ENSP00000343100
resolver
ensp
ENSP00000348813
resolver
ensp
ENSP00000368602
resolver
ensp
ENSP00000368609
resolver
ensp
ENSP00000475355
resolver
ensp
ENSP00000576977
resolver
ensp
ENSP00000576982
resolver
enst
ENST00000606370
resolver
genesymbol
TBC1D7
resolver
genesymbol_syn
TBC7
resolver
hgnc
HGNC:21066
resolver
uniprot
E7EV96
resolver
uniprot
Q2TU37
resolver
uniprot
Q53F44
resolver
uniprot
Q5SZL7
resolver
uniprot
Q86VM8
resolver
uniprot
Q96MB8
resolver
uniprot
U3KPY5
resolver
uniprot_entry
TBCD7_HUMAN
resolver
uniprot_entry
U3KPY5_HUMAN
resolver
uniprot_sec
E7EV96
resolver
uniprot_sec
Q2TU37
resolver
uniprot_sec
Q53F44
resolver
uniprot_sec
Q5SZL7
resolver
uniprot_sec
Q86VM8
resolver
uniprot_sec
Q96MB8
resolver
amino_acid_sequence
MTEDSQRNFRSVYYEKVGFRGVEEKKSLEILLKDDRLDTEKLCTFSQRFPLPSMYRALVWKVLLGILPPHHESHAKVMMYRKEQYLDVLHALKVVRFVSDATPQAEVYLRMYQLESGKLPRSPSFPLEPDDEVFLAIAKAMEEMVEDSVDCYWITRRFVNQLNTKYRDSLPQLPKAFEQYLNLEDGRLLTHLRMCSAAPKLPYDLWFKRCFAGCLPESSLQRVWDKVVSGSCKILVFVAVEILLTFKIKVMALNSAEKITKFLENIPQDSSDAIVSKAIDLWHKHCGTPVHSS
uniprot
proteins
disease_involvement
DISEASE: Macrocephaly/megalencephaly syndrome, autosomal recessive (MGCPH) [MIM:248000]: An autosomal recessive disorder characterized by abnormal enlargement of the cerebral hemispheres, intellectual disability, 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. Additional clinical features include behavioral abnormalities, psychosis, learning difficulties, prognathism, myopia and astigmatism. {ECO:0000269|PubMed:23687350, ECO:0000269|PubMed:24515783}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Non-catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosynthesis to promote cellular biomass generation and growth (PubMed:22795129, PubMed:24529379). The TSC-TBC complex acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a direct activator of the protein kinase activity of mTORC1 (PubMed:22795129, PubMed:24529379). In absence of nutrients, the TSC-TBC complex inhibits mTORC1, thereby preventing phosphorylation of ribosomal protein S6 kinase (RPS6KB1 and RPS6KB2) and EIF4EBP1 (4E-BP1) by the mTORC1 signaling (PubMed:22795129). The TSC-TBC complex is inactivated in response to nutrients, relieving inhibition of mTORC1 (PubMed:24529379). {ECO:0000269|PubMed:22795129, ECO:0000269|PubMed:24529379}.
uniprot
proteins
mass_dalton
33972
uniprot
proteins
mutagenesis
MUTAGEN 81..84; /note="RKEQ->AKEA: Abolished formation of the TSC-TBC complex; when associated with A-121. Abolished interaction with TSC1 and TSC2; when associated with 94-A-A-95."; /evidence="ECO:0000269|PubMed:26893383"; MUTAGEN 94..95; /note="VV->AA: Abolished interaction with TSC1. Abolished interaction with TSC1 and TSC2; when associated with A-81--A-84."; /evidence="ECO:0000269|PubMed:26893383"; MUTAGEN 96; /note="R->A: Decreased interaction with TSC1."; /evidence="ECO:0000269|PubMed:26893383"; MUTAGEN 114; /note="L->A: Abolished interaction with TSC1."; /evidence="ECO:0000269|PubMed:26893383"; MUTAGEN 121; /note="R->A: Abolished formation of the TSC-TBC complex; when associated with 81-A--A-84."; /evidence="ECO:0000269|PubMed:26893383
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17658474
uniprot
proteins
pubmed
19077034
uniprot
proteins
pubmed
22795129
uniprot
proteins
pubmed
23687350
uniprot
proteins
pubmed
24515783
uniprot
proteins
pubmed
24529379
uniprot
proteins
pubmed
26893383
uniprot
proteins
pubmed
33436626
uniprot
proteins
sequence_length
293
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:24529379}. Cytoplasmic vesicle {ECO:0000269|PubMed:17658474}. Cytoplasm, cytosol {ECO:0000269|PubMed:24529379}. Note=Localizes in the cytoplasmic vesicles of the endomembrane in association with the TSC-TBC complex (PubMed:17658474). Recruited to lysosomal membranes in a RHEB-dependent process in absence of nutrients (PubMed:24529379). In response to nutrients, the complex dissociates from lysosomal membranes and relocalizes to the cytosol (PubMed:24529379). {ECO:0000269|PubMed:17658474, ECO:0000269|PubMed:24529379}.
uniprot
proteins