Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

TBC1 domain family member 1

The TBC1D1 encodes a protein that is involved in cell growth and differentiation. In particular this holds true in processes and cells of glucose regulation.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hereditary susceptibility to diabetes
IRS1
MAPK8IP1
PDX1
SH2B1
TBC1D1

References:

1.

Kikuno R et al. (1999) Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

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2.

White RA et al. (2000) The gene encoding TBC1D1 with homology to the tre-2/USP6 oncogene, BUB2, and cdc16 maps to mouse chromosome 5 and human chromosome 4.

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3.

Chadt A et al. (2008) Tbc1d1 mutation in lean mouse strain confers leanness and protects from diet-induced obesity.

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4.

Paglialunga S et al. (2017) The Rab-GTPase activating protein, TBC1D1, is critical for maintaining normal glucose homeostasis and β-cell mass.

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5.

Jaldin-Fincati JR et al. (2017) Update on GLUT4 Vesicle Traffic: A Cornerstone of Insulin Action.

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6.

Zhou Z et al. (2017) Rab28 is a TBC1D1/TBC1D4 substrate involved in GLUT4 trafficking.

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7.

Møller CL et al. (2016) α-MSH Stimulates Glucose Uptake in Mouse Muscle and Phosphorylates Rab-GTPase-Activating Protein TBC1D1 Independently of AMPK.

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8.

Dokas J et al. (2016) Tbc1d1 deletion suppresses obesity in leptin-deficient mice.

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9.

NCBI article

NCBI 23216 external link
10.

OMIM.ORG article

Omim 609850 external link
11.

Wikipedia article

Wikipedia EN (TBC1D1) external link
Update: Aug. 14, 2020
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