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Target intelligence / Profile preview
TBC1 domain family member 3H (TBC1D3H)
- Target
- TBC1D3H
- Molecular classification
- Enzyme (specifically, GTPase activating protein for RAB5), Other (TBC domain protein family member)
01
Overview
TBC1 domain family member 3H (TBC1D3H) is a protein-coding gene that encodes a GTPase activating protein, primarily for RAB5. The protein is predicted to be located at the plasma membrane and is implicated in intracellular trafficking and vesicle transport. TBC1D3H belongs to a hominoid-specific gene family that is amplified on chromosome 17 and is part of a paralogous group (A-H). The TBC1D3 family is overexpressed in various cancers, particularly kidney renal clear cell carcinoma, where it has been established as a prognostic biomarker related to tumor-infiltrating lymphocytes and immune infiltration. There is no evidence for direct targeting by drugs or its use as a therapeutic target. Functional evidence also associates it with cell proliferation and potentially cell cycle regulation as part of its oncogenic roles[1][2][3].
- Other names
- TBC1 domain family member 3HTBC1D3HTBC1 domain family member 3-like
02
Mechanism of action
None reported for drugs. The protein itself acts as a GTPase activating protein for RAB5, but pharmacological mechanisms are not described
03
Biological functions
GTPase activator activity (for RAB5)Cell proliferation (predicted involvement in cancer cell proliferation)Potential regulation of cell cycle, signal transduction (based on paralogs and functional family)
04
Disease associations
Cancer (particularly kidney renal clear cell carcinoma (KIRC), breast, prostate, bladder, pancreatic cancers, and myelodysplastic syndrome)Congenital anomalies of kidney and urinary tractChromosome 17q12 deletion syndromeOther (associated with immune infiltration in cancers)
05
Safety considerations
None reported. There are no known notable safety concerns or therapeutic challenges specific to TBC1D3H
06
Interacting drugs
None reported. No drugs are described as directly interacting with or targeting TBC1D3H
07
Biomarkers
Prognostic biomarker for kidney renal clear cell carcinoma (KIRC), where high expression is associated with poor prognosis and immune cell infiltration (not specific to TBC1D3H alone but to the TBC1D3 family as a whole)
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