TBC1D1 (TBC1 domain family member 1)

2003-02-01  

Identity

HGNC
TBC1D1
LOCATION
4p14
LOCUSID
23216
ALIAS
TBC,TBC1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23216
MIM: 609850
HGNC: 11578
Ensembl: ENSG00000065882

Variants:

dbSNP: 23216
ClinVar: 23216
TCGA: ENSG00000065882
COSMIC: TBC1D1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000065882ENST00000261439Q86TI0
ENSG00000065882ENST00000261439B9A6J6
ENSG00000065882ENST00000402522B5MCJ2
ENSG00000065882ENST00000421339H7C380
ENSG00000065882ENST00000443855H7C0Z7
ENSG00000065882ENST00000446803C9JIE2
ENSG00000065882ENST00000508802Q86TI0
ENSG00000065882ENST00000510573H0Y8P0
ENSG00000065882ENST00000513936H0YA01
ENSG00000065882ENST00000615497A0JNU9

Expression (GTEx)

0
50
100
150
200
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
AMPK signaling pathwayKEGGhsa04152
AMPK signaling pathwayKEGGko04152
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Translocation of GLUT4 to the plasma membraneREACTOMER-HSA-1445148

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447216SchizophreniaDiseaseClinicalAnnotationassociatedPD23364847
PA449061clozapineChemicalClinicalAnnotationassociatedPD23364847
PA450688olanzapineChemicalClinicalAnnotationassociatedPD23364847

References

Pubmed IDYearTitleCitations
381898232024TBC1D1 represses glioma progression by altering the integrity of the cytoskeleton.0
385292862024Novel prognostic biomarker TBC1D1 is associated with immunotherapy resistance in gliomas.0
381898232024TBC1D1 represses glioma progression by altering the integrity of the cytoskeleton.0
385292862024Novel prognostic biomarker TBC1D1 is associated with immunotherapy resistance in gliomas.0
342084712021Does 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
342084712021Does 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
318163122020WNK1 phosphorylation sites in TBC1D1 and TBC1D4 modulate cell surface expression of GLUT1.10
318955962020Sex and fiber type independently influence AMPK, TBC1D1, and TBC1D4 at rest and during recovery from high-intensity exercise in humans.6
330878482020TBC1D1 interacting proteins, VPS13A and VPS13C, regulate GLUT4 homeostasis in C2C12 myotubes.12
318163122020WNK1 phosphorylation sites in TBC1D1 and TBC1D4 modulate cell surface expression of GLUT1.10
318955962020Sex and fiber type independently influence AMPK, TBC1D1, and TBC1D4 at rest and during recovery from high-intensity exercise in humans.6
330878482020TBC1D1 interacting proteins, VPS13A and VPS13C, regulate GLUT4 homeostasis in C2C12 myotubes.12
278266582017A Tbc1d1 (Ser231Ala)-knockin mutation partially impairs AICAR- but not exercise-induced muscle glucose uptake in mice.17
278266582017A Tbc1d1 (Ser231Ala)-knockin mutation partially impairs AICAR- but not exercise-induced muscle glucose uptake in mice.17
265721372016Whole-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-(tbc1-domain-family-member-1)