LRRTM1
Leucine Rich Repeat Transmembrane Neuronal 1
Gene Information Card
| Symbol | LRRTM1 |
|---|---|
| Full Name | Leucine Rich Repeat Transmembrane Neuronal 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p12 |
| NCBI Gene ID | 347730 ncbi.nlm.nih.gov/gene/347730 |
| Ensembl ID | ENSG00000162944 |
| UniProt ID | Q86UE6 |
| OMIM ID | 610807 |
| HGNC ID | 19408 |
| Aliases | FLJ32096, MGC138499 |
Description
LRRTM1 encodes a leucine-rich repeat transmembrane protein that functions as a synaptic adhesion molecule, promoting excitatory synapse formation and maintenance. It is highly expressed in the brain, particularly in the hippocampus and cortex, and plays a role in neuronal development, synaptic plasticity, and lateralization. Genetic variants in LRRTM1 have been associated with schizophrenia, bipolar disorder, and human handedness.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | LRRTM1 variants may alter synaptic adhesion and glutamatergic signaling, contributing to neurodevelopmental abnormalities. | PMID: 17903249, ClinVar |
| Bipolar Disorder | Polymorphisms in LRRTM1 are linked to bipolar disorder risk, possibly through disrupted synaptic function. | PMID: 17903249, ClinVar |
| Handedness (Left-handedness) | Maternal allele-specific expression of LRRTM1 is associated with left-handedness, suggesting imprinting effects. | PMID: 17903249 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Hippocampus | 15.2 | Medium |
| Cerebellum | 8.3 | Low |
| Testis | 1.2 | Not detected |
| Heart | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 10.1 | Neuronal model |
| U-87 MG (glioblastoma) | 7.8 | Glial model |
| HEK 293 (embryonic kidney) | 0.3 | Non-neuronal control |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1448715 (intronic) | SNP | 0.15 (global) | Associated with schizophrenia risk |
| rs1006737 (intronic) | SNP | 0.20 (global) | Associated with bipolar disorder |
| c.124C>T (p.Arg42Cys) | Missense | Rare | Potential loss of function in synaptic adhesion |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg42Cys) may impair protein folding or synaptic localization, reducing adhesion.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
Not established; LRRTM1 acts as a monomer in adhesion complexes.
View complete mutation data：
Gene Ontology (GO)
| • synaptic membrane adhesion | • excitatory synapse assembly |
| • cell adhesion | • protein binding |
| • neuron projection development |
Pathways
• Synaptic adhesion molecules (Reactome: R-HSA-6794362)
• Neurexin-neuroligin interaction (KEGG: hsa04724)
Protein Summary
LRRTM1 is a type I transmembrane protein containing extracellular leucine-rich repeats (LRRs) that mediate homophilic and heterophilic interactions with neurexins. It localizes to postsynaptic membranes and promotes excitatory synapse formation by clustering AMPA receptors. The protein is imprinted with maternal allele expression in the brain, influencing cerebral lateralization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LRRTM1 Knockout HEK293 Cell Line | EDJ-KQ14148 | Human | 347730 | Details Get a Quote |
| LRRTM1 Knockout HeLa Cell Line | EDJ-KQ59823 | Human | 347730 | Details Get a Quote |
| LRRTM1 Knockout A-549 Cell Line | EDJ-KQ68292 | Human | 347730 | Details Get a Quote |
| LRRTM1 Knockout HCT 116 Cell Line | EDJ-KQ76666 | Human | 347730 | Details Get a Quote |
