LANCL1 Gene: Lanthionine Synthetase C-Like Protein 1
A comprehensive biomedical resource for LANCL1, including gene function, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | LANCL1 |
|---|---|
| Full Name | LanC like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q33.3 |
| NCBI Gene ID | 10314 ncbi.nlm.nih.gov/gene/10314 |
| Ensembl ID | ENSG00000115368 |
| UniProt ID | O43813 |
| OMIM ID | 604155 |
| HGNC ID | 6508 |
| Aliases | GPR69A, p40, LANCL1 |
Description
LANCL1 (LanC like 1) is a protein-coding gene located on chromosome 2q33.3. It encodes a member of the LanC-like protein family, which is involved in the synthesis of lanthionine, a component of bacterial lantibiotics. In humans, LANCL1 is thought to function in signal transduction and cellular stress responses, including binding to glutathione and modulating redox balance. The protein is widely expressed, with highest levels in the brain, testis, and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epileptic encephalopathy, early infantile, 70 (EIEE70) | Loss-of-function mutations in LANCL1 disrupt glutathione binding and redox regulation, leading to neuronal dysfunction. | ClinVar, OMIM |
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Biallelic LANCL1 variants impair protein function, associated with developmental delay and seizures. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 23.5 | High |
| Testis | 18.2 | High |
| Kidney | 12.1 | Medium |
| Liver | 8.4 | Medium |
| Heart | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression; used in neuronal studies |
| HEK293 (embryonic kidney) | 10.8 | Moderate expression |
| HepG2 (liver) | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.293G>A (p.Arg98Gln) | Missense | Rare | Loss of glutathione binding; associated with EIEE70 |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of protein function; pathogenic in neurodevelopmental disorder |
| c.457C>T (p.Arg153Trp) | Missense | Rare | Impaired protein stability; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations (e.g., start loss, missense disrupting glutathione binding) cause early infantile epileptic encephalopathy and neurodevelopmental disorders.
Gain of Function (GOF)
No gain-of-function mutations have been reported for LANCL1.
Dominant Negative (DN)
No dominant-negative mutations have been described for LANCL1.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • glutathione transferase activity (GO:0004364) |
| • cytoplasm (GO:0005737) | • cytosol (GO:0005829) |
| • plasma membrane (GO:0005886) | • response to drug (GO:0042493) |
| • response to oxidative stress (GO:0006979) |
Pathways
• Glutathione metabolism (Reactome: R-HSA-174403)
• Signal transduction (Reactome: R-HSA-162582)
Protein Summary
LANCL1 encodes a 450-amino acid protein (UniProt O43813) that belongs to the LanC-like family. It contains a conserved LanC domain and is localized to the cytoplasm and plasma membrane. The protein binds glutathione and exhibits glutathione transferase activity, playing a role in cellular redox homeostasis. LANCL1 is highly expressed in the brain and testis, and its dysfunction is linked to early infantile epileptic encephalopathy and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LANCL1 Knockout HEK293 Cell Line | EDJ-KQ7006 | Human | 10314 | Details Get a Quote |
| LANCL1 Knockout HCT 116 Cell Line | EDJ-KQ30365 | Human | 10314 | Details Get a Quote |
| LANCL1 Knockout A-549 Cell Line | EDJ-KQ31741 | Human | 10314 | Details Get a Quote |
| LANCL1 Knockout HeLa Cell Line | EDJ-KQ31743 | Human | 10314 | Details Get a Quote |
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