FLRT1: Fibronectin Leucine Rich Transmembrane Protein 1
Key regulator of cell adhesion, neuronal development, and cortical lamination
Gene Information Card
| Symbol | FLRT1 |
|---|---|
| Full Name | Fibronectin Leucine Rich Transmembrane Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q27 |
| NCBI Gene ID | 23787 ncbi.nlm.nih.gov/gene/23787 |
| Ensembl ID | ENSG00000112658 |
| UniProt ID | Q9NZU1 |
| OMIM ID | 604807 |
| HGNC ID | 3760 |
| Aliases | SPG68, FLRT1_HUMAN |
Description
FLRT1 encodes a transmembrane protein containing leucine-rich repeats and a fibronectin type III domain. It functions in cell adhesion, neuronal migration, and axon guidance. FLRT1 is involved in cortical lamination and synapse formation, and its mutations are associated with hereditary spastic paraplegia and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Spastic Paraplegia 68 (SPG68) | Loss-of-function mutations impair axonal guidance and cortical development, leading to spasticity and motor dysfunction. | ClinVar, OMIM |
| Neurodevelopmental disorder with spasticity and brain anomalies | Disrupted FLRT1-mediated cell adhesion and neuronal migration cause structural brain defects. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebral cortex | 12.5 | Medium |
| Cerebellum | 8.3 | Low |
| Hippocampus | 10.1 | Medium |
| Testis | 6.7 | Low |
| Heart | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | Neuronal model |
| U-87 MG (glioblastoma) | 9.8 | Glial model |
| HEK293 (embryonic kidney) | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339*) | Nonsense | Rare | Loss of function; truncation of transmembrane domain |
| c.1246G>A (p.Gly416Arg) | Missense | Rare | Impaired cell adhesion and axon guidance |
| c.1489_1491del (p.Phe497del) | In-frame deletion | Rare | Disrupted protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein, associated with SPG68.
Gain of Function (GOF)
Not reported in FLRT1.
Dominant Negative (DN)
Not reported in FLRT1.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion | • axon guidance |
| • neuron projection development | • synapse assembly |
| • protein homodimerization activity | • extracellular matrix binding |
Pathways
• Cell adhesion molecules (CAMs)
• Axon guidance
• Neuronal system
Protein Summary
FLRT1 is a 647-amino acid transmembrane protein with an N-terminal signal peptide, leucine-rich repeats (LRR), a fibronectin type III domain, a transmembrane region, and a cytoplasmic tail. It mediates homophilic and heterophilic cell adhesion, interacts with Unc5 receptors to regulate neuronal migration, and modulates FGF signaling. The protein is essential for proper cortical lamination and axon tract formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FLRT1 Knockout HEK293 Cell Line | EDJ-KQ7461 | Human | 23769 | Details Get a Quote |
| FLRT1 Knockout HeLa Cell Line | EDJ-KQ55804 | Human | 23769 | Details Get a Quote |
| FLRT1 Knockout A-549 Cell Line | EDJ-KQ64299 | Human | 23769 | Details Get a Quote |
| FLRT1 Knockout HCT 116 Cell Line | EDJ-KQ72750 | Human | 23769 | Details Get a Quote |
