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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NPAS1
neuronal PAS domain protein 1
Chromosome 19 · 19q13.32
NCBI Gene: 4861Ensembl: ENSG00000130751.11HGNC: HGNC:7894UniProt: Q99742
11PubMed 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 factor activity, RNA polymerase II-specificprotein heterodimerization activityregulation of transcription by RNA polymerase IIneurodegenerative diseaseintelligencedementiaAbnormality of the skeletal system
✦AI Summary

NPAS1 (neuronal PAS domain protein 1) is a basic helix-loop-helix PAS family transcription factor selectively expressed in the central nervous system beginning at embryonic day 15.5 12. NPAS1 functions as a master regulator of neuropsychiatric pathways through heterodimerization with ARNT to form transcriptional complexes that bind the core DNA sequence 5'-TACGTG-3' within hypoxia response elements 3. The protein contains four putative ligand-binding pockets, positioning it as a target for small-molecule drug development 3. Mechanistically, NPAS1 represses erythropoietin (EPO) expression in response to cellular oxygen levels during late CNS development 2. NPAS1 also represses cortical interneuron generation by suppressing the Arx enhancer in basal ganglia progenitors, reducing somatostatin-positive and VIP-positive interneuron populations while maintaining normal parvalbumin-positive neuron density 4. Genetically, NPAS1 loss-of-function mutations are linked to schizophrenia, autism spectrum disorders, and bipolar disorder 3. NPAS1 and NPAS3 act as master regulators controlling downstream neuropsychiatric risk genes including Fmr1 (fragile X syndrome) and Ube3a (Angelman syndrome), with NPAS1/3 targets showing increased human genetic burden for schizophrenia and intellectual disability 5. Understanding NPAS1 regulation provides insights into the shared molecular pathophysiology underlying diagnostically distinct neuropsychiatric conditions.

Sources cited
1
NPAS1 heterodimerizes with ARNT, contains four ligand-binding pockets, linked to schizophrenia and autism spectrum disorders
PMID: 27782878
2
NPAS1 expression begins at embryonic day 16.5, represses EPO transcription and hypoxia-responsive element-regulated genes
PMID: 15635607
3
NPAS1 represses Arx enhancer activity and regulates cortical interneuron subtypes (SST+ and VIP+)
PMID: 25467980
4
NPAS1 is a bHLH-PAS family member selectively expressed in CNS, first detected at embryonic day 15 in mouse
PMID: 9012850
5
NPAS1 and NPAS3 are master regulators of neuropsychiatric genes including Fmr1 and Ube3a, targets show genetic burden for schizophrenia and intellectual disability
PMID: 28499489
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.28Weak
intelligenceOpen Targets
0.21Weak
dementiaOpen Targets
0.19Weak
Abnormality of the skeletal systemOpen Targets
0.07Suggestive
diabetic ketoacidosisOpen Targets
0.04Suggestive
psoriasisOpen Targets
0.02Suggestive
small cell lung carcinomaOpen Targets
0.01Suggestive
Colon Sessile Serrated Adenoma/PolypOpen Targets
0.01Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.01Suggestive
insomniaOpen Targets
0.01Suggestive
colorectal adenocarcinomaOpen Targets
0.01Suggestive
Parkinson diseaseOpen Targets
0.01Suggestive
AnxietyOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
schizophreniaOpen Targets
0.00Suggestive
psychiatric disorderOpen Targets
0.00Suggestive
malignant peripheral nerve sheath tumorOpen Targets
0.00Suggestive
Mobius syndromeOpen Targets
0.00Suggestive
synovial sarcomaOpen Targets
0.00Suggestive
myxosarcomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BTDShared pathway100%NHLH1Shared pathway100%NHLH2Shared pathway100%ZIC5Shared pathway100%ZIC4Shared pathway100%SNTG2Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
82%
Liver
21%
Lung
21%
Ovary
11%
Heart
9%
Gene Interaction Network
Click a node to explore
NPAS1BTDNHLH1NHLH2ZIC5ZIC4SNTG2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q99742
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.92LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.66 [0.48–0.92]
RankingsWhere NPAS1 stands among ~20K protein-coding genes
  • #16,837of 20,598
    Most Researched11
  • #8,420of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedNPAS1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PMID: 39637134
1.00
2
NPAS1-ARNT and NPAS3-ARNT crystal structures implicate the bHLH-PAS family as multi-ligand binding transcription factors.
PMID: 27782878
Elife · 2016
0.90
3
Novel function of neuronal PAS domain protein 1 in erythropoietin expression in neuronal cells.
PMID: 15635607
J Neurosci Res · 2005
0.80
4
NPAS1 represses the generation of specific subtypes of cortical interneurons.
PMID: 25467980
Neuron · 2014
0.70
5
Molecular characterization of two mammalian bHLH-PAS domain proteins selectively expressed in the central nervous system.
PMID: 9012850
Proc Natl Acad Sci U S A · 1997
0.60