TULP3

Chr 12p13.33

TUB like protein 3

Aliases:: TUBL3
MANE:: ENST00000448120.7

OMIM: 604730 ↗NCBI: 7289 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TULP3 · O75386

v62025-08-01

Predicted Aligned Error matrix for TULP3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

72.3/ 100

Confident

442 residues

Confidence breakdown

Very high(≥ 90)42%
Confident(70–90)17%
Low(50–70)9%
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)

Cystic kidney disease
BIALLELIC, autosomal or pseudoautosomal
Ductal plate malformation
BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hepatorenocardiac degenerative fibrosis
0.72
neurodegenerative disease
0.48
ciliopathy
0.38
poisoning
0.27
hereditary disease
0.19
renal cysts and diabetes syndrome
0.07
polycystic liver disease 3 with or without kidney cysts
0.07
polycystic liver disease 4 with or without kidney cysts
0.07
nephronophthisis
0.07
Meckel syndrome
0.07

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

Protein function (UniProt)

Tubby-related protein 3

Protein-protein adapter that drives transport of G protein-coupled receptors into primary cilia by mediating association between the intraflagellar transport complex A (IFT-A) and G protein-coupled receptors FFAR4, GPR45 and GPR161 (PubMed:11375483, PubMed:20889716, PubMed:31761534, PubMed:36775821). Acts as a negative regulator of the Shh signaling by promoting trafficking of GPR161 to cilia (PubMed:20889716, PubMed:36775821). During adipogenesis, regulates ciliary trafficking of FFAR4 in preadipocytes (PubMed:31761534). Promotes transport of GPR45 into primary cilia of neurons in paraventricular nucleus (PVN) of the hypothalamus (By similarity). Binds to phosphorylated inositide (phosphoinositide) lipids; both IFT-A- and phosphoinositide-binding properties are required to regulate ciliary G protein-coupled receptor trafficking (PubMed:11375483, PubMed:20889716). Besides its role in cilium localization, acts as a regulator of AMP-activated protein kinase (AMPK) activity in response to calorie restriction: binds lithocholic acid, a metabolite generated in response to calorie restriction, promoting TULP3 ability to activate SIRT1, which then deacetylates the ATP6V1E1 subunit of the V-ATPase complex, leading to (1) V-ATPase complex inhibition on lysosomes and (2) AMPK activation via the AXIN1-STK11/LKB1 axis (By similarity)