TULP3
TUB like protein 3
Gene Information Card
| Symbol | TULP3 |
|---|---|
| Full Name | TUB like protein 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 12p13.33 |
| NCBI Gene ID | 7289 ncbi.nlm.nih.gov/gene/7289 |
| Ensembl ID | ENSG00000111247 |
| UniProt ID | O75386 |
| OMIM ID | 604730 |
| HGNC ID | 12424 |
| Aliases | TUBL3, MGC126543, MGC126545 |
Description
TULP3 (TUB like protein 3) is a member of the tubby-like protein family. It functions as a ciliary adaptor protein that facilitates the trafficking of G protein-coupled receptors (GPCRs) into primary cilia, playing a critical role in Hedgehog signaling and other ciliary pathways. Mutations in TULP3 are associated with retinal degeneration and nephronophthisis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa | Loss of TULP3 disrupts ciliary GPCR trafficking in photoreceptors, leading to progressive retinal degeneration. | ClinVar, OMIM |
| Nephronophthisis | Defective ciliary signaling due to TULP3 mutations impairs renal tubular function, causing cystic kidney disease. | ClinVar, OMIM |
| Joubert syndrome | TULP3 variants may contribute to ciliopathy phenotypes including cerebellar and retinal abnormalities. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 18.5 | Medium |
| Retina | 15.2 | Medium |
| Kidney | 12.8 | Medium |
| Brain | 10.1 | Low |
| Lung | 8.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.4 | High expression |
| ARPE-19 | 19.7 | Retinal pigment epithelium |
| RPTEC | 16.1 | Renal proximal tubule epithelial cells |
| SH-SY5Y | 11.3 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124C>T (p.Arg42*) | Nonsense | Rare | Loss of function; associated with retinitis pigmentosa |
| c.487G>A (p.Gly163Arg) | Missense | Rare | Impaired ciliary localization; linked to nephronophthisis |
| c.1021_1022del (p.Leu341fs) | Frameshift | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein or nonsense-mediated decay, reducing ciliary GPCR trafficking.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • ciliary membrane | • protein transport |
| • G protein-coupled receptor binding | • cilium assembly |
| • Hedgehog signaling pathway |
Pathways
• Hedgehog signaling pathway
• Ciliary GPCR trafficking
Protein Summary
TULP3 is a 442-amino acid protein containing a conserved tubby domain at the C-terminus. It localizes to the base of primary cilia and interacts with the intraflagellar transport (IFT) machinery to mediate the entry of specific GPCRs (e.g., GPR161, SSTR3) into cilia. This function is essential for proper Hedgehog signal transduction and sensory perception in photoreceptors and renal epithelia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TULP3 Knockout HEK293 Cell Line | EDJ-KQ5248 | Human | 7289 | Details Get a Quote |
| TULP3 Knockout A-549 Cell Line | EDJ-KQ29556 | Human | 7289 | Details Get a Quote |
| TULP3 Knockout HCT 116 Cell Line | EDJ-KQ29557 | Human | 7289 | Details Get a Quote |
| TULP3 Knockout HeLa Cell Line | EDJ-KQ29558 | Human | 7289 | Details Get a Quote |
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