ELFN1 Gene: Extracellular Leucine Rich Repeat And Fibronectin Type III Domain Containing 1
Comprehensive genomic and proteomic analysis of ELFN1, a gene encoding a synaptic adhesion molecule implicated in neurodevelopmental disorders and cancer.
Gene Information Card
| Symbol | ELFN1 |
|---|---|
| Full Name | Extracellular Leucine Rich Repeat And Fibronectin Type III Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p22.3 |
| NCBI Gene ID | 392617 ncbi.nlm.nih.gov/gene/392617 |
| Ensembl ID | ENSG00000146540 |
| UniProt ID | P0C7U0 |
| OMIM ID | 616419 |
| HGNC ID | 26006 |
| Aliases | FLJ23514, PPP1R29 |
Description
ELFN1 encodes a protein containing leucine-rich repeats and a fibronectin type III domain, localized to the cell surface. It functions as a synaptic adhesion molecule, interacting with metabotropic glutamate receptors to modulate synaptic transmission. The gene is expressed in the central nervous system and is implicated in neurodevelopmental disorders and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with language delay and behavioral abnormalities | Disruption of ELFN1-mediated synaptic adhesion and mGluR signaling | OMIM #616419; rare missense and loss-of-function variants identified in patients |
| Autism spectrum disorder | Altered glutamatergic synapse function due to ELFN1 deficiency | Association studies and rare variant analyses (ClinVar) |
| Colorectal cancer | Potential tumor suppressor role; altered expression in tumor tissues | COSMIC database; somatic mutations reported |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Brain (cerebellum) | 8.3 | Low |
| Testis | 4.1 | Low |
| Heart | 1.2 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model; high expression |
| U-87 MG (glioblastoma) | 9.8 | Glial tumor line; moderate expression |
| HEK 293 (embryonic kidney) | 2.1 | Low endogenous expression |
| HCT 116 (colorectal carcinoma) | 1.5 | Low expression; consistent with tumor suppression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | Rare | Reduced protein stability; associated with neurodevelopmental disorder |
| c.457G>A (p.Gly153Arg) | Missense | Rare | Impaired synaptic localization; reported in autism |
| c.1234delC (p.Leu412Trpfs*5) | Frameshift | Very rare | Loss of function; truncation of C-terminal domain |
| c.788A>G (p.Tyr263Cys) | Missense | Somatic (COSMIC) | Unknown functional effect; found in colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants leading to truncated protein or nonsense-mediated decay; reduced synaptic adhesion.
Gain of Function (GOF)
Not reported for ELFN1.
Dominant Negative (DN)
Missense variants (e.g., p.Thr34Met) may interfere with wild-type protein function in heterozygotes.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005886 – plasma membrane | • GO:0007156 – homophilic cell adhesion via plasma membrane adhesion molecules |
| • GO:0007268 – chemical synaptic transmission | • GO:0030424 – axon |
| • GO:0045202 – synapse | • GO:0060076 – excitatory synapse |
Pathways
• Glutamatergic synapse (Reactome R-HSA-112314)
• Protein-protein interactions at synapses (Reactome R-HSA-6794362)
Protein Summary
The ELFN1 protein is a type I transmembrane glycoprotein with extracellular leucine-rich repeats and a fibronectin type III domain. It localizes to the postsynaptic density of excitatory synapses, where it binds to metabotropic glutamate receptors (mGluRs) to regulate synaptic signaling. The intracellular region contains a PDZ-binding motif that mediates interactions with scaffolding proteins. ELFN1 is essential for proper synapse development and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ELFN1 Knockout HEK293 Cell Line | EDJ-KQ12492 | Human | 392617 | Details Get a Quote |
| ELFN1 Knockout HCT 116 Cell Line | EDJ-KQ42688 | Human | 392617 | Details Get a Quote |
| ELFN1 Knockout HeLa Cell Line | EDJ-KQ60236 | Human | 392617 | Details Get a Quote |
| ELFN1 Knockout A-549 Cell Line | EDJ-KQ68698 | Human | 392617 | Details Get a Quote |
| ELFN1 Knockout HAP1 Cell Line | EDC08176 | Human | 392617 | Details Get a Quote |
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