TBC1D1

Chr 4p14

TBC1 domain family member 1

Aliases:: TBC, TBC1, KIAA1108
MANE:: ENST00000698857.1

OMIM: 609850 ↗NCBI: 23216 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

TBC1D1 · Q86TI0

v62025-08-01

Predicted Aligned Error matrix for TBC1D1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

70.6/ 100

Confident

1,168 residues

Confidence breakdown

Very high(≥ 90)35%
Confident(70–90)26%
Low(50–70)7%
Very low(< 50)32%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

CAKUT
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

congenital anomaly of kidney and urinary tract
0.45
neurodegenerative disease
0.36
smoking initiation
0.28
arthropathy
0.27
clonal hematopoiesis
0.26
secondary malignant neoplasm
0.26
bone Paget disease
0.26
head and neck cancer
0.26
central nervous system cancer
0.22
ileostomy
0.22

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

TBC1 domain family member 1

May act as a GTPase-activating protein for Rab family protein(s). May play a role in the cell cycle and differentiation of various tissues. Involved in the trafficking and translocation of GLUT4-containing vesicles and insulin-stimulated glucose uptake into cells (By similarity)