LZTFL1 (NM_001276378) - leucine zipper transcription factor like 1
Leucine Zipper Transcription Factor-Like Protein 1 Isoform 2
Legend
Protein
Kinases
Sites
Color corresponds to (the most severe) impact of mutations on given site:
Interactions
If you have any questions or feedback about this protein:
Contact us
PTM Interaction Network Visualisation
Protein summary
This gene encodes a ubiquitously expressed protein that localizes to the cytoplasm. This protein interacts with Bardet-Biedl Syndrome (BBS) proteins and, through its interaction with BBS protein complexes, regulates protein trafficking to the ciliary membrane. Nonsense mutations in this gene cause a form of Bardet-Biedl Syndrome; a ciliopathy characterized in part by polydactyly, obesity, cognitive impairment, hypogonadism, and kidney failure. This gene may also function as a tumor suppressor; possibly by interacting with E-cadherin and the actin cytoskeleton and thereby regulating the transition of epithelial cells to mesenchymal cells. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2013].
- Strand
- -
- Chromosome
- 3
- Protein
- 282 residues
- All mutations
- 42
- PTM sites
- 13
- CDS
- 45,867,805 - 45,879,495
- Transcription
- 45,864,809 - 45,957,216
Usage summary
Network
PTM site
Kinases group
|
Kinase, PTM site or protein
|