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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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LEFTY1
left-right determination factor 1
Chromosome 1 · 1q42.12
NCBI Gene: 10637Ensembl: ENSG00000243709.2HGNC: HGNC:6552UniProt: O75610
32PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytokine activityheart morphogenesisdetermination of left/right symmetryanterior/posterior axis specificationHeterotaxiaBarrett's esophagusheterotaxy, visceral, 12, autosomalvisceral heterotaxy
✦AI Summary

LEFTY1 (left-right determination factor 1) is a member of the transforming growth factor-β superfamily that plays critical roles in embryonic development and cellular homeostasis 1. The protein functions primarily in left-right axis determination during embryogenesis, working in conjunction with LEFTY2 and NODAL signaling pathways 2. LEFTY1 acts as a negative regulator of TGF-β/Smad signaling, with its expression inversely correlated with tissue fibrosis and inflammation 1. In embryonic stem cells, LEFTY1 serves as a stemness marker and helps maintain the balance between self-renewal and pluripotent differentiation by modulating Smad2 phosphorylation 34. The gene shows differential expression in inflammatory bowel diseases, suggesting involvement in cytokine regulation and inflammation resolution 5. LEFTY1 variants have been associated with congenital heart defects, particularly when combined with maternal hypertension 6. Additionally, LEFTY1 demonstrates protective effects against tissue injury, as evidenced by its ability to attenuate renal tubulointerstitial fibrosis through inhibition of TGF-β1/Smad-dependent signaling 1. The protein also influences angiogenesis, with its expression levels affecting endothelial cell function 7.

Sources cited
1
LEFTY1 functions in left-right axis determination and shows abnormal expression in laterality defects
PMID: 40955177
2
LEFTY1 is a TGF-β superfamily member that attenuates renal fibrosis by inhibiting Smad-dependent signaling
PMID: 26647776
3
LEFTY1 serves as a stemness marker and regulates embryonic stem cell differentiation through Smad2 modulation
PMID: 24147624
4
LEFTY1 functions as an uncharacterized stem cell marker in human stomach tissue
PMID: 37819756
5
LEFTY1 shows differential expression in inflammatory bowel diseases
PMID: 34680872
6
LEFTY1 variants are associated with congenital heart defects and maternal hypertension
PMID: 37097539
7
LEFTY1 expression affects angiogenesis and endothelial cell function
PMID: 36427678
Disease Associationsⓘ20
HeterotaxiaOpen Targets
0.08Suggestive
Barrett's esophagusOpen Targets
0.08Suggestive
heterotaxy, visceral, 12, autosomalOpen Targets
0.07Suggestive
visceral heterotaxyOpen Targets
0.06Suggestive
Congenitally uncorrected transposition of the great arteriesOpen Targets
0.06Suggestive
Ivemark syndromeOpen Targets
0.06Suggestive
scimitar syndromeOpen Targets
0.06Suggestive
ciliary dyskinesia, primary, 52Open Targets
0.06Suggestive
congenital heart diseaseOpen Targets
0.06Suggestive
right atrial isomerismOpen Targets
0.06Suggestive
tricuspid atresiaOpen Targets
0.06Suggestive
primary ciliary dyskinesiaOpen Targets
0.06Suggestive
congenital heart defects, multiple types, 6Open Targets
0.05Suggestive
congenital heart malformationOpen Targets
0.05Suggestive
heterotaxy, visceral, 5, autosomalOpen Targets
0.05Suggestive
Aortic CoarctationOpen Targets
0.05Suggestive
ciliary dyskinesia, primary, 40Open Targets
0.05Suggestive
congenital heart defects, multiple types, 4Open Targets
0.05Suggestive
congenital heart defects, multiple types, 9Open Targets
0.05Suggestive
Truncus arteriosusOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CFC1Protein interaction93%ACVR2AProtein interaction92%ACVR2BProtein interaction92%TGFB1Protein interaction92%TGFB3Protein interaction92%PITX2Protein interaction87%
Tissue Expression6 tissues
Ovary
100%
Brain
50%
Liver
48%
Lung
14%
Bone Marrow
2%
Heart
0%
Gene Interaction Network
Click a node to explore
LEFTY1CFC1ACVR2AACVR2BTGFB1TGFB3PITX2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O75610
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.45LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.00 [0.70–1.45]
RankingsWhere LEFTY1 stands among ~20K protein-coding genes
  • #11,537of 20,598
    Most Researched32
  • #14,836of 17,882
    Most Constrained (LOEUF)1.45
Genes detectedLEFTY1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Stomach encyclopedia: Combined single-cell and spatial transcriptomics reveal cell diversity and homeostatic regulation of human stomach.
PMID: 37819756
Cell Rep · 2023
1.00
2
Lefty1 and lefty2 control the balance between self-renewal and pluripotent differentiation of mouse embryonic stem cells.
PMID: 24147624
Stem Cells Dev · 2014
0.90
3
Expression of Cytokine-Coding Genes
PMID: 34680872
Genes (Basel) · 2021
0.80
4
Association of maternal hypertension and diabetes with variants of the NKX2-5, LEFTY1 and LEFTY2 genes in children with congenital heart defects: a case-control study from Pakistani Population.
PMID: 37097539
Mol Biol Rep · 2023
0.70
5
Lefty1 alleviates renal tubulointerstitial injury in mice with unilateral ureteral obstruction.
PMID: 26647776
Mol Med Rep · 2016
0.60