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- Table of Contents
Facts about TBC1 domain family member 24.
.
Human | |
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Gene Name: | TBC1D24 |
Uniprot: | Q9ULP9 |
Entrez: | 57465 |
Belongs to: |
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No superfamily |
KIAA1171FIME; MGC102885; TBC1 domain family member 24; TBC1 domain family, member 24
Mass (kDA):
62.919 kDA
Human | |
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Location: | 16p13.3 |
Sequence: | 16; NC_000016.10 (2475104..2509669) |
Highest expression in brain.
Cell membrane; Peripheral membrane protein. Cytoplasm. Cytoplasmic vesicle membrane. Mainly cytoplasmatic with partial expression at the plasma membrane (PubMed:20727515). Associates with certain types of membrane phosphoinositides, preferentially those phosphorylated at the D5 position of the inositol ring such as phosphatidylinositol 4,5-bisphosphate (PIP2) and phosphatidylinositol 3,4,5-trisphosphate (PIP3) (By similarity).
PMID: 19077034 by Ishibashi K., et al. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity.
PMID: 20727515 by Falace A., et al. TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.