LZTFL1
leucine zipper transcription factor like 1
- Ensembl:
- ENSG00000163818
- UniProt:
- Q9NQ48
- OMIM:
- 606568
- Synonyms:
- BBS17
Cilia effects upon perturbation of LZTFL1
- Cilia number / % ciliated:
- Decreased cilia number
Ciliogenesis screen results (3 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-2.94) PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
Phenotypes
- Human ciliopathy phenotype:
- Bardet-Biedl syndrome
Ciliopathy associations
- Bardet-Biedl Syndrome
Subcellular localization
cilia, transition zone
Functional category
- Ciliary assembly/disassembly
- Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
- Actin & cytoskeleton regulation
- T cell biology
- Reproduction & sperm
- Viral interactions
- Cell migration & adhesion
- Signaling (Hedgehog, GPCRs, ion channels)
- Ciliary membrane
- Transition zone
- Transcription regulation
- Cilia length regulation
Function
Interacts with a BBS protein complex known as the BBSome to negatively regulate ciliary trafficking of this complex inhibiting BBSome ciliary entry. It also regulates ciliary trafficking of hedgehog sig l transducer, Smoothened (22072986). Coordi tes the interactions between the BBSome and the IFT particle to regulate the removal of Ptch1 and Smo from cilia (25446516). Depletion leads to a Bardet-Biedl syndrome phenotype (22510444). We found no differences in cilia formation, cilia stability, or cilia length (in RPE1) LZTFL1 interagates with BBSome and regulates ciliary trafficking of BBSome and Smoothened (22072986) Viral treatment of HBECs resulted in significantly less amount of ciliated HBECs … in LZTFL1 shRNA‐infected cells (26364604)
Model organism evidence
Compared to wildtype (WT), LZKO CB-MSCs had elongated primary cilia with tapered tips and increased levels of peroxisome proliferator-activated receptor γ (PPARγ), a key transcription factor that favors adipogenesis, and nuclear glucocorticoid receptor (GR), a transcription factor involved in Pp
Bardet-Biedl syndrome (BBS) is an inherited ciliopathy affecting multiple organs and systems with wide clinical and genetic heterogeneity.