Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23216
MIM: 609850
HGNC: 11578
Ensembl: ENSG00000065882
Variants:
dbSNP: 23216
ClinVar: 23216
TCGA: ENSG00000065882
COSMIC: TBC1D1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA447216 | Schizophrenia | Disease | ClinicalAnnotation | associated | PD | 23364847 | |
| PA449061 | clozapine | Chemical | ClinicalAnnotation | associated | PD | 23364847 | |
| PA450688 | olanzapine | Chemical | ClinicalAnnotation | associated | PD | 23364847 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38189823 | 2024 | TBC1D1 represses glioma progression by altering the integrity of the cytoskeleton. | 0 |
| 38529286 | 2024 | Novel prognostic biomarker TBC1D1 is associated with immunotherapy resistance in gliomas. | 0 |
| 38189823 | 2024 | TBC1D1 represses glioma progression by altering the integrity of the cytoskeleton. | 0 |
| 38529286 | 2024 | Novel prognostic biomarker TBC1D1 is associated with immunotherapy resistance in gliomas. | 0 |
| 34208471 | 2021 | Does TBC1D4 (AS160) or TBC1D1 Deficiency Affect the Expression of Fatty Acid Handling Proteins in the Adipocytes Differentiated from Human Adipose-Derived Mesenchymal Stem Cells (ADMSCs) Obtained from Subcutaneous and Visceral Fat Depots? | 3 |
| 34208471 | 2021 | Does TBC1D4 (AS160) or TBC1D1 Deficiency Affect the Expression of Fatty Acid Handling Proteins in the Adipocytes Differentiated from Human Adipose-Derived Mesenchymal Stem Cells (ADMSCs) Obtained from Subcutaneous and Visceral Fat Depots? | 3 |
| 31816312 | 2020 | WNK1 phosphorylation sites in TBC1D1 and TBC1D4 modulate cell surface expression of GLUT1. | 10 |
| 31895596 | 2020 | Sex and fiber type independently influence AMPK, TBC1D1, and TBC1D4 at rest and during recovery from high-intensity exercise in humans. | 6 |
| 33087848 | 2020 | TBC1D1 interacting proteins, VPS13A and VPS13C, regulate GLUT4 homeostasis in C2C12 myotubes. | 12 |
| 31816312 | 2020 | WNK1 phosphorylation sites in TBC1D1 and TBC1D4 modulate cell surface expression of GLUT1. | 10 |
| 31895596 | 2020 | Sex and fiber type independently influence AMPK, TBC1D1, and TBC1D4 at rest and during recovery from high-intensity exercise in humans. | 6 |
| 33087848 | 2020 | TBC1D1 interacting proteins, VPS13A and VPS13C, regulate GLUT4 homeostasis in C2C12 myotubes. | 12 |
| 27826658 | 2017 | A Tbc1d1 (Ser231Ala)-knockin mutation partially impairs AICAR- but not exercise-induced muscle glucose uptake in mice. | 17 |
| 27826658 | 2017 | A Tbc1d1 (Ser231Ala)-knockin mutation partially impairs AICAR- but not exercise-induced muscle glucose uptake in mice. | 17 |
| 26572137 | 2016 | Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT). | 13 |
Citation
Dessen P
TBC1D1 (TBC1 domain family member 1)
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/gene/42476/tbc1d1
