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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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LYL1
LYL1 basic helix-loop-helix family member
Chromosome 19 · 19p13.13
NCBI Gene: 4066Ensembl: ENSG00000104903.6HGNC: HGNC:6734UniProt: P12980
34PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
OncogeneTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
blood vessel maturationregulation of DNA-templated transcriptionDNA bindingprotein bindingneurodegenerative diseasegastric carcinomacolorectal adenocarcinomagliomatosis cerebri
✦AI Summary

LYL1 (LYL1 basic helix-loop-helix family member) is a transcription factor that plays critical roles in hematopoiesis and leukemogenesis. As part of a heptad of transcription factors including FLI1, ERG, GATA2, RUNX1, TAL1, and LMO2, LYL1 binds regulatory elements in hematopoietic stem and progenitor cells (HSPCs), with distinct combinations enriched in lineage-specific regulatory elements 1. LYL1 functions through protein-protein interactions, forming complexes with LMO2 in myeloid leukemia cells where their expression mutually stimulates each other 2. In t(8;21) acute myeloid leukemia (AML), LYL1 facilitates AETFC complex assembly and gene activation by recruiting coactivator CARM1, contributing to leukemic cell survival 3. LYL1 is frequently overexpressed in pediatric AML and T-cell acute lymphoblastic leukemia, where it promotes cell growth and survival 45. During normal development, LYL1 can maintain primitive erythropoiesis and is a downstream target of SPI1 during endothelial-to-hematopoietic transition, specifically restoring lymphoid lineage potential 67. Paradoxically, in prostate cancer, LYL1 acts as a tumor suppressor mediating cellular senescence through a regulatory circuit involving BHLHE40 and p27kip1 8.

Sources cited
1
LYL1 is part of a heptad of transcription factors that bind regulatory elements in HSPCs with lineage-specific combinations
PMID: 37595278
2
LYL1 forms complexes with LMO2 in myeloid leukemia cells and their expression mutually stimulates each other
PMID: 19671288
3
LYL1 facilitates AETFC complex assembly and gene activation by recruiting CARM1 in t(8;21) AML
PMID: 36215477
4
LYL1 is overexpressed in pediatric AML and promotes cell growth and survival
PMID: 35842703
5
LYL1 is aberrantly expressed in approximately 60% of T-ALL cases
PMID: 35514954
6
LYL1 can maintain primitive erythropoiesis
PMID: 30185409
7
LYL1 is a downstream target of SPI1 and restores lymphoid lineage potential during EHT
PMID: 39108738
8
LYL1 acts as tumor suppressor in prostate cancer mediating cellular senescence through BHLHE40-p27kip1 circuit
PMID: 39668349
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.50Moderate
colorectal adenocarcinomaOpen Targets
0.37Weak
gastric carcinomaOpen Targets
0.37Weak
gliomatosis cerebriOpen Targets
0.37Weak
breast carcinomaOpen Targets
0.28Weak
bladder transitional cell carcinomaOpen Targets
0.28Weak
lung adenocarcinomaOpen Targets
0.28Weak
small cell lung carcinomaOpen Targets
0.28Weak
lymphoid neoplasmOpen Targets
0.28Weak
bile duct adenocarcinomaOpen Targets
0.28Weak
bile duct carcinomaOpen Targets
0.28Weak
breast ductal adenocarcinomaOpen Targets
0.28Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.28Weak
cecum adenocarcinomaOpen Targets
0.28Weak
colon adenocarcinomaOpen Targets
0.28Weak
cutaneous melanomaOpen Targets
0.28Weak
esophageal adenocarcinomaOpen Targets
0.28Weak
Hepatobiliary NeoplasmOpen Targets
0.28Weak
skin squamous cell carcinomaOpen Targets
0.28Weak
thyroid carcinomaOpen Targets
0.28Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LDB1Protein interaction100%TAL1Protein interaction100%RUNX1Protein interaction100%CBFA2T3Protein interaction100%CBFBProtein interaction100%GATA1Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
48%
Heart
12%
Ovary
8%
Liver
7%
Brain
3%
Gene Interaction Network
Click a node to explore
LYL1LDB1TAL1RUNX1CBFA2T3CBFBGATA1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P12980
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.24LoF Tolerant
pLIⓘ
0.12Tolerant
Observed/Expected LoF0.54 [0.27–1.24]
RankingsWhere LYL1 stands among ~20K protein-coding genes
  • #11,183of 20,598
    Most Researched34
  • #13,027of 17,882
    Most Constrained (LOEUF)1.24
Genes detectedLYL1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genome-wide transcription factor-binding maps reveal cell-specific changes in the regulatory architecture of human HSPCs.
PMID: 37595278
Blood · 2023
1.00
2
LYL1 facilitates AETFC assembly and gene activation by recruiting CARM1 in t(8;21) AML.
PMID: 36215477
Proc Natl Acad Sci U S A · 2022
0.90
3
Functional circuits of LYL1 controlled by supraphysiological androgen in prostate cancer cells to regulate cell senescence.
PMID: 39668349
Cell Commun Signal · 2024
0.80
4
Super-enhancer profiling identifies novel critical and targetable cancer survival gene LYL1 in pediatric acute myeloid leukemia.
PMID: 35842703
J Exp Clin Cancer Res · 2022
0.70
5
A novel role for
PMID: 30185409
Development · 2018
0.60