LRFN1 (Leucine Rich Repeat And Fibronectin Type III Domain Containing 1)
A transmembrane protein involved in neuronal development and synaptic function.
Gene Information Card
| Symbol | LRFN1 |
|---|---|
| Full Name | Leucine Rich Repeat And Fibronectin Type III Domain Containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 57622 ncbi.nlm.nih.gov/gene/57622 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | Q9P244 |
| OMIM ID | 612807 |
| HGNC ID | 29587 |
| Aliases | SALM5, KIAA1484 |
Description
LRFN1 (Leucine Rich Repeat And Fibronectin Type III Domain Containing 1), also known as SALM5, is a member of the LRFN family of transmembrane proteins. It contains leucine-rich repeats and a fibronectin type III domain in its extracellular region. LRFN1 is primarily expressed in the nervous system and plays a role in neuronal development, synapse formation, and cell adhesion. It interacts with PSD-95 and other synaptic proteins to regulate excitatory synapse function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism spectrum disorder | Altered synaptic adhesion and signaling | Association studies (PMID: 20479760) |
| Schizophrenia | Potential dysregulation of synaptic proteins | Genetic association (PMID: 21862876) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 2.1 | Low |
| Adrenal gland | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.3 | Neuronal cell line |
| U-87 MG | 8.7 | Glioblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.01% | Unknown functional effect |
| c.567delG (p.Gly190Valfs*12) | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • synapse assembly | • cell adhesion |
| • protein homodimerization activity | • PDZ domain binding |
Pathways
• Synaptic adhesion molecules
• Neurexin and neuroligin signaling
Protein Summary
LRFN1 is a transmembrane protein with extracellular leucine-rich repeats and a fibronectin type III domain. It localizes to excitatory synapses and interacts with PSD-95 via its C-terminal PDZ-binding motif. LRFN1 promotes synapse formation and dendritic spine maturation. Its expression is enriched in the brain, particularly in the hippocampus and cortex.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LRFN1 Knockout HEK293 Cell Line | EDJ-KQ14101 | Human | 57622 | Details Get a Quote |
| LRFN1 Knockout A-549 Cell Line | EDJ-KQ44027 | Human | 57622 | Details Get a Quote |
| LRFN1 Knockout HCT 116 Cell Line | EDJ-KQ44028 | Human | 57622 | Details Get a Quote |
| LRFN1 Knockout HeLa Cell Line | EDJ-KQ44029 | Human | 57622 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
