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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NHLH1
nescient helix-loop-helix 1
Chromosome 1 · 1q23.2
NCBI Gene: 4807Ensembl: ENSG00000171786.6HGNC: HGNC:7817UniProt: Q02575
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase II transcription regulatory region sequence-specific DNA bindingDNA-binding transcription activator activity, RNA polymerase II-specificprotein bindingsequence-specific double-stranded DNA bindingneutropeniafunctional neutrophil defectRomano-Ward syndromeFamilial progressive cardiac conduction defect
✦AI Summary

NHLH1 is a basic helix-loop-helix transcription factor that functions as a DNA-binding protein involved in neuronal differentiation and development. NHLH1 acts as a transcriptional regulator of neurogenic lineage genes, serving as a GLI2 target gene downstream of Hedgehog signaling 1. The protein promotes neuronal differentiation through multiple mechanisms: it activates neuronal miR-124 2, regulates genes critical for neural fate specification 1, and functions as a Sonic Hedgehog-regulated gene in developing cerebellum 3. NHLH1 expression marks basal progenitor cells during corticogenesis 4 and serves as a marker of neuronal commitment in enteric and dopaminergic neuron differentiation 12. Clinically, NHLH1 variants associate with disease outcomes. A genetic polymorphism (rs11265375C>T) correlates with improved chemotherapy response and overall survival in small-cell lung cancer through altered promoter activity 5. NHLH1 expression changes correlate with DNA methylation abnormalities in schizophrenia and bipolar disorder 6. Additionally, NHLH1 regulates TSLP cytokine expression and associates with mortality risk in heart failure patients 7. These findings suggest NHLH1 plays broader roles in tissue-specific differentiation and disease susceptibility beyond neural development.

Sources cited
1
NHLH1 is a GLI2 target gene activated by Hedgehog signaling that promotes neuronal differentiation in enteric neural crest cells
PMID: 31442438
2
NHLH1 promotes dopaminergic neuron differentiation and induces neuronal miR-124
PMID: 38177910
3
NHLH1 is a Sonic Hedgehog-regulated gene in developing cerebellum induced by Gli1 transcription factor
PMID: 18231642
4
NHLH1 marks basal progenitor cells during human corticogenesis and neuronal differentiation
PMID: 36688137
5
NHLH1 rs11265375C>T polymorphism affects promoter activity and correlates with improved chemotherapy response and survival in small-cell lung cancer
PMID: 36935366
6
NHLH1 shows differential DNA methylation and expression in psychotic patients with schizophrenia and bipolar disorder
PMID: 25243493
7
NHLH1 regulates TSLP expression and a variant associates with mortality risk in heart failure
PMID: 27149122
Disease Associationsⓘ20
neutropeniaOpen Targets
0.13Weak
functional neutrophil defectOpen Targets
0.12Weak
Romano-Ward syndromeOpen Targets
0.09Suggestive
Familial progressive cardiac conduction defectOpen Targets
0.08Suggestive
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.08Suggestive
Familial short QT syndromeOpen Targets
0.08Suggestive
catecholaminergic polymorphic ventricular tachycardiaOpen Targets
0.07Suggestive
Brugada syndromeOpen Targets
0.07Suggestive
familial atrial fibrillationOpen Targets
0.07Suggestive
hypertrophic cardiomyopathyOpen Targets
0.07Suggestive
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.07Suggestive
sudden cardiac arrestOpen Targets
0.06Suggestive
atrial fibrillationOpen Targets
0.06Suggestive
dilated cardiomyopathyOpen Targets
0.06Suggestive
Idiopathic ventricular fibrillation, not Brugada typeOpen Targets
0.06Suggestive
Atrial stand stillOpen Targets
0.06Suggestive
cardiac conduction defectOpen Targets
0.06Suggestive
Wolff-Parkinson-White SyndromeOpen Targets
0.06Suggestive
left ventricular noncompactionOpen Targets
0.06Suggestive
long QT syndrome 1Open Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BTDShared pathway100%ZIC5Shared pathway100%ZIC4Shared pathway100%SNTG2Shared pathway100%JRKLShared pathway100%NPAS1Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Liver
44%
Lung
44%
Ovary
17%
Bone Marrow
11%
Heart
0%
Gene Interaction Network
Click a node to explore
NHLH1BTDZIC5ZIC4SNTG2JRKLNPAS1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q02575
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.19LoF Tolerant
pLIⓘ
0.22Tolerant
Observed/Expected LoF0.46 [0.21–1.19]
RankingsWhere NHLH1 stands among ~20K protein-coding genes
  • #14,752of 20,598
    Most Researched18
  • #12,495of 17,882
    Most Constrained (LOEUF)1.19
Genes detectedNHLH1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Activation of Hedgehog Signaling Promotes Development of Mouse and Human Enteric Neural Crest Cells, Based on Single-Cell Transcriptome Analyses.
PMID: 31442438
Gastroenterology · 2019
1.00
2
Multiomics analysis identifies novel facilitators of human dopaminergic neuron differentiation.
PMID: 38177910
EMBO Rep · 2024
0.90
3
An integrated approach identifies Nhlh1 and Insm1 as Sonic Hedgehog-regulated genes in developing cerebellum and medulloblastoma.
PMID: 18231642
Neoplasia · 2008
0.80
4
Genetic variants of NEUROD1 target genes are associated with clinical outcomes of small-cell lung cancer patients.
PMID: 36935366
Thorac Cancer · 2023
0.70
5
Low Doses of Bisphenol A Disrupt Neuronal Differentiation of Human Neuronal Stem/Progenitor Cells.
PMID: 36688137
Acta Histochem Cytochem · 2022
0.60