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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ASCL1
achaete-scute family bHLH transcription factor 1
Chromosome 12 · 12q23.2
NCBI Gene: 429Ensembl: ENSG00000139352.4HGNC: HGNC:738UniProt: P50553
133PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
Notch signaling pathwayDNA-binding transcription factor activitynucleusprotein bindingHaddad syndromepost-traumatic stress disordergastric cancersmoking initiation
✦AI Summary

ASCL1 is a bHLH transcription factor that acts as a pioneer factor in neuronal differentiation, directly binding E-box motifs to activate neural gene transcription 1. Its primary functions include specification of olfactory, autonomic, and pulmonary neuroendocrine cells, as well as GABAergic neuron generation when combined with other factors like DLX2 2. ASCL1 regulates distinct oncogenic programs including MYCL1, RET, SOX2, NFIB, and NOTCH pathway genes, distinguishing it from the related factor NEUROD1 1. In disease contexts, ASCL1 defines a molecular subtype of small cell lung cancer (SCLC-A) characterized by high neuroendocrine marker expression and associated with poor prognosis 34. ASCL1 is essential for SCLC tumor formation in mouse models and drives neuroendocrine differentiation in prostate cancer through lineage plasticity 15. Notably, ASCL1 expression shows dynamic evolution under MYC-driven selection, shifting between SCLC subtypes 6. Epigenetic regulators like KDM6A control ASCL1-to-NEUROD1 subtype plasticity, explaining the 35-40% of human SCLCs displaying intra-tumoral subtype heterogeneity 7. Clinically, ASCL1+ SCLC tumors with high SLFN11 expression correlate with poor survival, while spatial immune analysis identifies antitumoral niches predicting immunotherapy response 4. In asthma, ASCL1-dependent pulmonary neuroendocrine cells amplify allergic responses through CGRP-ILC2 signaling 8.

Sources cited
1
ASCL1 is required for SCLC tumor formation in vivo, targets oncogenic genes (MYCL1, RET, SOX2, NFIB, DLL3), and regulates distinct genetic programs from NEUROD1
PMID: 27452466
2
ASCL1 expression defines a neuroendocrine-high SCLC subtype in patient samples with characteristic marker profiles
PMID: 33011388
3
ASCL1+ SCLC (SCLC-A) with high SLFN11 expression associates with poor prognosis; spatial immune niches correlate with superior survival
PMID: 39983726
4
MYC drives dynamic evolution of SCLC subtypes with temporal shifting from ASCL1+ to NEUROD1+ to YAP1+ states
PMID: 32473656
5
ASCL1 is required for neuroendocrine differentiation in prostate cancer and drives NE identity through lineage plasticity
PMID: 39264686
6
KDM6A regulates ASCL1-to-NEUROD1 subtype plasticity; ASCL1/NEUROD1 coexpression occurs in 35-40% of human SCLCs
PMID: 37591951
7
ASCL1 combined with DLX2 generates pure, functionally mature GABAergic neurons from human pluripotent stem cells
PMID: 28504679
8
ASCL1-dependent pulmonary neuroendocrine cells amplify allergic asthma responses through CGRP-ILC2 signaling and GABA-induced goblet cell hyperplasia
PMID: 29599193
Disease Associationsⓘ20
Haddad syndromeOpen Targets
0.41Moderate
post-traumatic stress disorderOpen Targets
0.31Weak
gastric cancerOpen Targets
0.28Weak
smoking initiationOpen Targets
0.27Weak
coronary atherosclerosisOpen Targets
0.24Weak
type 2 diabetes mellitusOpen Targets
0.24Weak
sinusitisOpen Targets
0.23Weak
small cell lung carcinomaOpen Targets
0.23Weak
anorexia nervosaOpen Targets
0.23Weak
attention deficit hyperactivity disorderOpen Targets
0.23Weak
diaphragm diseaseOpen Targets
0.22Weak
major depressive disorderOpen Targets
0.21Weak
neurodegenerative diseaseOpen Targets
0.21Weak
heart diseaseOpen Targets
0.21Weak
coronary artery diseaseOpen Targets
0.21Weak
asthmaOpen Targets
0.20Weak
cervical carcinomaOpen Targets
0.17Weak
uterine fibroidOpen Targets
0.15Weak
Ondine syndromeOpen Targets
0.14Weak
sialadenitisOpen Targets
0.14Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CREB1Protein interaction100%NEUROG3Protein interaction97%INSM1Protein interaction96%NKX2-2Protein interaction95%EP300Protein interaction94%POU3F3Protein interaction93%
Tissue Expression6 tissues
Brain
100%
Liver
0%
Ovary
0%
Bone Marrow
0%
Lung
0%
Heart
0%
Gene Interaction Network
Click a node to explore
ASCL1CREB1NEUROG3INSM1NKX2-2EP300POU3F3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P50553
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.51Moderately Constrained
pLIⓘ
0.95Intolerant
Observed/Expected LoF0.16 [0.07–0.51]
RankingsWhere ASCL1 stands among ~20K protein-coding genes
  • #3,480of 20,598
    Most Researched133 · top quartile
  • #3,105of 17,882
    Most Constrained (LOEUF)0.51 · top quartile
Genes detectedASCL1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
SCLC Subtypes Defined by ASCL1, NEUROD1, POU2F3, and YAP1: A Comprehensive Immunohistochemical and Histopathologic Characterization.
PMID: 33011388
J Thorac Oncol · 2020
1.00
2
Integrative spatial analysis reveals tumor heterogeneity and immune colony niche related to clinical outcomes in small cell lung cancer.
PMID: 39983726
Cancer Cell · 2025
0.90
3
MYC Drives Temporal Evolution of Small Cell Lung Cancer Subtypes by Reprogramming Neuroendocrine Fate.
PMID: 32473656
Cancer Cell · 2020
0.80
4
ASCL1 and NEUROD1 Reveal Heterogeneity in Pulmonary Neuroendocrine Tumors and Regulate Distinct Genetic Programs.
PMID: 27452466
Cell Rep · 2016
0.70
5
Pulmonary neuroendocrine cells amplify allergic asthma responses.
PMID: 29599193
Science · 2018
0.60