LZTFL1 Gene (Leucine Zipper Transcription Factor Like 1)
A gene encoding a protein involved in ciliary transport and immune regulation, linked to Bardet-Biedl syndrome and cancer susceptibility.
Gene Information Card
| Symbol | LZTFL1 |
|---|---|
| Full Name | Leucine Zipper Transcription Factor Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 54585 ncbi.nlm.nih.gov/gene/54585 |
| Ensembl ID | ENSG00000163818 |
| UniProt ID | Q9NQ48 |
| OMIM ID | 606568 |
| HGNC ID | 6741 |
| Aliases | BBS17, C3orf17, FLJ11273 |
Description
LZTFL1 (leucine zipper transcription factor like 1) is a protein-coding gene located on chromosome 3p21.31. The encoded protein contains a leucine zipper domain and is involved in ciliary transport, particularly in the regulation of intraflagellar transport and BBSome complex assembly. It also plays a role in immune cell signaling and has been implicated in Bardet-Biedl syndrome (BBS17) and various cancers. Expression is enriched in ciliated tissues and immune cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bardet-Biedl syndrome 17 (BBS17) | Loss-of-function mutations disrupt ciliary transport, leading to retinal degeneration, obesity, polydactyly, and renal anomalies. | OMIM #615994; ClinVar pathogenic variants |
| Non-small cell lung cancer | Downregulation of LZTFL1 promotes epithelial-mesenchymal transition and metastasis. | PMID: 27562872; NCBI Gene |
| Colorectal cancer | Reduced expression correlates with poor prognosis and increased invasion. | PMID: 28625973 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lung | 10.8 | Medium |
| Kidney | 9.5 | Medium |
| Brain | 6.3 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung cancer) | 12.5 | High expression |
| HEK293 (embryonic kidney) | 8.9 | Moderate expression |
| HepG2 (liver cancer) | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.349C>T (p.Arg117*) | Nonsense | Rare | Loss of function; associated with BBS17 |
| c.625G>A (p.Gly209Arg) | Missense | <0.01% | Uncertain significance; ClinVar |
| c.1A>G (p.Met1?) | Start loss | Very rare | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in LZTFL1 cause Bardet-Biedl syndrome 17 via disruption of ciliary protein transport.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not described for LZTFL1.
View complete mutation data：
Gene Ontology (GO)
| • Cilium assembly | • Intraflagellar transport |
| • Protein localization to cilium | • BBSome complex |
| • Cytoplasm | • Cytoskeleton |
Pathways
• Bardet-Biedl syndrome pathway
• Ciliary transport pathway
Protein Summary
The LZTFL1 protein (UniProt Q9NQ48) is a 299-amino-acid cytoplasmic protein containing a leucine zipper domain. It interacts with the BBSome complex and regulates ciliary membrane protein trafficking. Loss of function leads to ciliary dysfunction characteristic of Bardet-Biedl syndrome. The protein also modulates immune responses and tumor suppression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LZTFL1 Knockout HEK293 Cell Line | EDJ-KQ11468 | Human | 54585 | Details Get a Quote |
| LZTFL1 Knockout A-549 Cell Line | EDJ-KQ39775 | Human | 54585 | Details Get a Quote |
| LZTFL1 Knockout HCT 116 Cell Line | EDJ-KQ39776 | Human | 54585 | Details Get a Quote |
| LZTFL1 Knockout HeLa Cell Line | EDJ-KQ39777 | Human | 54585 | Details Get a Quote |
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