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This gene encodes a member of the TBC-domain containing protein family. The encoded protein functions as a subunit of the tuberous sclerosis TSC1-TSC2 complex which plays a role in the regulation of cellular growth and differentiation. Mutations in this gene have been associated with autosomal recessive megalencephaly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
Q9P0N9 [Direct mapping] TBC1 domain family member 7 A0A024R011 [Target identity:100%; Query identity:100%] TBC1 domain family, member 7, isoform CRA_a
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MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0005096 [GTPase activator activity] GO:0005515 [protein binding] GO:0016023 [cytoplasmic membrane-bounded vesicle] GO:0017137 [Rab GTPase binding] GO:0031398 [positive regulation of protein ubiquitination] GO:0031410 [cytoplasmic vesicle] GO:0032007 [negative regulation of TOR signaling] GO:0036064 [ciliary basal body] GO:0070848 [response to growth factor] GO:0090630 [activation of GTPase activity] GO:1902018 [negative regulation of cilium assembly]
