Target intelligence / Profile preview

TBC1 domain family member 30 (TBC1D30)

Target
TBC1D30
Molecular classification
Other, GTPase-activating protein (RabGAP) family, TBC (Tre-2/Bub2/Cdc16) domain-containing protein
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Overview

**TBC1 domain family member 30 (TBC1D30)** is a protein encoded by the TBC1D30 gene on human chromosome 12 (12q14.3)[1]. The protein contains a RabGAP-TBC domain and a DUF4682 domain, suggesting a putative function as a GTPase-activating protein for Rab family proteins, which are involved in vesicular trafficking[2][5]. TBC1D30 is predominantly expressed in the brain and adrenal cortex[1][3]. Experimental studies indicate roles in the regulation of cilium assembly/disassembly and possible involvement in insulin processing[1][4]. There are no approved drugs or direct therapeutics targeting this molecule, and its clinical significance remains largely uncharacterized. Possible protein-protein interactions include STX3, ZRANB1, and ESR1[1]. A single nucleotide polymorphism (rs11615287) in the RabGAP domain may be damaging, but current evidence does not specifically link TBC1D30 to major human diseases or therapeutic interventions[1][4][5].

Other names
TBC1D30KIAA0984
02

Mechanism of action

Not applicable (no drugs known to interact)

03

Biological functions

Negative regulation of cilium assemblyPositive regulation of cilium disassemblyRegulation of Rab GTPase activity (may act as a GTPase-activating protein for Rab proteins)
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Disease associations

Other (rare variant might be damaging, but no clear disease linkage)Possible involvement in insulin processing (preclinical associations only)

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