LUZP1: Leucine Zipper Protein 1
A gene encoding a leucine zipper-containing protein involved in ciliogenesis and cell migration.
Gene Information Card
| Symbol | LUZP1 |
|---|---|
| Full Name | Leucine Zipper Protein 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 1p36.12 |
| NCBI Gene ID | 7798 ncbi.nlm.nih.gov/gene/7798 |
| Ensembl ID | ENSG00000117461 |
| UniProt ID | Q86X02 |
| OMIM ID | 617911 |
| HGNC ID | 6710 |
| Aliases | LUZP, KIAA1101, FLJ10324 |
Description
LUZP1 (Leucine Zipper Protein 1) is a protein-coding gene located on chromosome 1p36.12. The encoded protein contains a leucine zipper domain and is involved in ciliogenesis, cell migration, and cytoskeletal organization. It interacts with the actin cytoskeleton and is required for primary cilium formation. LUZP1 is expressed in multiple tissues and has been implicated in developmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia-like phenotype | Loss of LUZP1 disrupts ciliogenesis, impairing motile cilia function | ClinVar, OMIM |
| Schizophrenia | LUZP1 variants associated with altered neuronal migration and synaptic function | ClinVar, NCBI |
| Breast cancer | LUZP1 overexpression linked to increased cell migration and invasion | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.3 | Low |
| Kidney | 5.1 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.4 | Moderate expression |
| HeLa | 9.7 | Moderate expression |
| MCF7 | 7.2 | Low expression |
| A549 | 6.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function, truncated protein |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function, premature stop |
| c.890A>G (p.Tyr297Cys) | Missense | 0.02% | Unknown significance, possibly damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) lead to truncated protein and loss of ciliogenesis function.
Gain of Function (GOF)
No gain-of-function mutations reported in LUZP1.
Dominant Negative (DN)
No dominant-negative mutations reported in LUZP1.
View complete mutation data：
Gene Ontology (GO)
| • ciliary basal body | • cytoskeleton |
| • cell migration | • protein homodimerization activity |
| • leucine zipper domain |
Pathways
• Ciliogenesis
• Actin cytoskeleton regulation
• Cell migration signaling
Protein Summary
LUZP1 encodes a 1,084-amino acid protein containing a leucine zipper domain. It localizes to the ciliary basal body and interacts with actin filaments to regulate primary cilium formation. The protein is involved in cell migration and cytoskeletal dynamics. Loss of LUZP1 leads to ciliary defects and impaired cell motility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LUZP1 Knockout HEK293 Cell Line | EDJ-KQ5418 | Human | 7798 | Details Get a Quote |
| LUZP1 Knockout A-549 Cell Line | EDJ-KQ29884 | Human | 7798 | Details Get a Quote |
| LUZP1 Knockout HCT 116 Cell Line | EDJ-KQ29886 | Human | 7798 | Details Get a Quote |
| LUZP1 Knockout HeLa Cell Line | EDJ-KQ29887 | Human | 7798 | Details Get a Quote |
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