TULP3
TUB like protein 3
- Ensembl:
- ENSG00000078246
- UniProt:
- O75386
- OMIM:
- 604730
- Synonyms:
- TUBL3
Cilia effects upon perturbation of TULP3
- Cilia number / % ciliated:
- Decreased cilia number
- Loss-of-function effect:
- Shorter cilia
- Overexpression effect:
- Unknown
Ciliogenesis screen results (4 screens)
- Kim2016: No effect
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-6.00) PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-2.26) PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: Joubert Candidate / Ciliogenesis Defect (robust z=-2.13, ciliated=21.3%) PMID:26595381
Phenotypes
- Mouse phenotype:
- preweaning lethality, complete penetrance, decreased prepulse inhibition, impaired glucose tolerance, increased total body fat amount, decreased fasting circulating glucose level, decreased lean body mass, abnormal response to new environment
- Mouse ciliopathy phenotype:
- increased circulating alanine transamise level, increased circulating bilirubin level, increased circulating aspartate transamise level
- Human ciliopathy phenotype:
- hepatorenocardiac degenerative fibrosis
Ciliopathy associations
- Hepatorenocardiac Degenerative Fibrosis
- Neonatal Sclerosing Cholangitis
Subcellular localization
basal body, nucleus, transition zone
Functional category
- Ciliary assembly/disassembly
- Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
- Cell migration & adhesion
- Signaling (Hedgehog, GPCRs, ion channels)
- Transition zone
Function
Role in intracellular transport, cell differentiation, sig ling, and motility (33187986). Associates with IFT-A in a complex to regulate trafficking and localisation of G protein-coupled receptors into cilia. Negative regulator of Hedgehog sig ling (20889716). Adapter for ciliary trafficking of membrane cargo, regulates PC1/2 complex trafficking (28154160). Required for proper Shh-dependent limb patterning, as it inhibits Gli2 activity (19286674). Essential for trafficking of Arl13b and INPP5E into cilia. Loss of function causes ciliopathy-associated polycystic kidney disease, downregulates the formation of cilia and their length (30799240, 30583862).
Model organism evidence
Critically, disrupting ciliary GPCR trafficking via Tulp3 knockdown - while preserving cilia structure - recapitulated the signaling and secretory deficits, demonstra
Critically, disrupting ciliary GPCR trafficking via Tulp3 knockdown - while preserving cilia structure - recapitulated the signaling and secretory deficits, demonstrating a specific requirement for the ciliary receptor pool.