LEFTY1
Left-Right Determination Factor 1
Gene Information Card
| Symbol | LEFTY1 |
|---|---|
| Full Name | Left-Right Determination Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q42.12 |
| NCBI Gene ID | 10637 ncbi.nlm.nih.gov/gene/10637 |
| Ensembl ID | ENSG00000143768 |
| UniProt ID | O75610 |
| OMIM ID | 603037 |
| HGNC ID | 6556 |
| Aliases | LEFTYB, LEFTB, LEFTYB, EBAF, LEFTY1 |
Description
LEFTY1 encodes a member of the transforming growth factor-beta (TGFB) superfamily. The protein acts as a left-right asymmetry determinant, functioning as a Nodal antagonist to restrict Nodal signaling to the left lateral plate mesoderm during embryonic development. LEFTY1 is essential for proper organ situs and lateralization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Heterotaxy, visceral, 2, autosomal | Loss of LEFTY1 function disrupts left-right patterning, leading to randomized organ situs. | OMIM #605376; PMID 10973229 |
| Left-right axis malformations | Impaired Nodal antagonism results in bilateral or absent left-sided signaling. | ClinVar; PMID 18371929 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.4 | Low |
| Placenta | 0.2 | Low |
| Brain | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.1 | Not detected |
| K-562 | 0.1 | Not detected |
| HUVEC | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.328C>T (p.Arg110*) | Nonsense | <0.01% | Premature stop; loss of protein function |
| c.1A>G (p.Met1?) | Start loss | <0.01% | No translation initiation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants that truncate the protein or prevent translation are loss-of-function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • TGF-beta receptor binding | • cytokine activity |
| • left/right pattern formation | • negative regulation of Nodal signaling pathway |
Pathways
• Nodal signaling pathway
• TGF-beta signaling pathway
Protein Summary
LEFTY1 is a secreted ligand of the TGFB superfamily that antagonizes Nodal signaling. It contains a conserved TGFB-like domain and is processed into a mature dimer. The protein is critical for establishing left-right asymmetry during embryogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LEFTY1 Knockout HEK293 Cell Line | EDJ-KQ50996 | Human | 10637 | Details Get a Quote |
| LEFTY1 Knockout HeLa Cell Line | EDJ-KQ55450 | Human | 10637 | Details Get a Quote |
| LEFTY1 Knockout A-549 Cell Line | EDJ-KQ63932 | Human | 10637 | Details Get a Quote |
| LEFTY1 Knockout HCT 116 Cell Line | EDJ-KQ72389 | Human | 10637 | Details Get a Quote |
