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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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NOVA1
NOVA alternative splicing regulator 1
Chromosome 14 · 14q12
NCBI Gene: 4857Ensembl: ENSG00000139910.20HGNC: HGNC:7886UniProt: B7Z770
72PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sequence-specific mRNA bindingnucleolusRNA bindingnucleoplasmintelligenceAbnormal urine sodium concentrationosteoarthritissmoking initiation
✦AI Summary

NOVA1 is a neuron-specific RNA-binding protein that regulates alternative splicing in the brain and spinal cord by recognizing 5'-YCAY-3' sequence repeats on pre-mRNA 1. Depending on binding location, NOVA1 mediates both exon inclusion and exclusion through modulation of spliceosome assembly; exonic binding blocks U1 snRNP and inhibits inclusion, while intronic binding promotes inclusion 1. NOVA1 regulates splicing of neurodevelopmentally critical genes including GABRG2 and GLRA2, and autoregulates its own splicing through exon 4 exclusion 1. A human-specific I197V substitution in NOVA1's RNA-binding domain is unique to modern humans and influences alternative splicing patterns affecting vocalization-related genes, potentially contributing to language evolution 2. NOVA1 also plays human-specific roles in white adipogenesis by preventing unfolded protein response overactivation and regulating DNAJC10 splicing 3. Clinical relevance includes neurodevelopmental disorders, where NOVA1 haploinsufficiency causes motor hyperactivity through hypothalamic Impact mRNA stabilization 4. In cancer, NOVA1 acts oncogenically in glioblastoma by antagonizing miRNA-mediated transcript degradation of cholesterol homeostasis genes 5. NOVA1 serves as a prognostic biomarker in head and neck squamous cell carcinoma, where inflammation induces and epigenetic dysregulation suppresses its expression 6.

Sources cited
1
NOVA1 is a neuron-specific RNA-binding protein that recognizes YCAY sequences and regulates exon inclusion/skipping, intron retention; exonic binding blocks U1 snRNP and inhibits inclusion while intronic binding promotes inclusion
PMID: 40555137
2
Human-specific I197V substitution in NOVA1 alters alternative splicing of vocalization-related genes and influences behavioral vocalization patterns, potentially contributing to spoken language development
PMID: 39966351
3
NOVA1 is required for human white adipogenesis by regulating DNAJC10 splicing and preventing unfolded protein response overactivation, with human-specific functions not recapitulated in mice
PMID: 37246706
4
NOVA1 haploinsufficiency causes motor hyperactivity disorder; NOVA1 stabilizes Impact mRNA in hypothalamic inhibitory neurons by antagonizing miR-138 and miR-124
PMID: 36716149
5
NOVA1 acts as an oncogenic factor in glioblastoma by stabilizing cholesterol homeostasis-related transcripts through 3'UTR binding, antagonizing AGO2-miRNA actions
PMID: 38416679
6
NOVA1 is induced by inflammatory signals and suppressed by epigenetic dysregulation in head and neck squamous cell carcinoma; associated with tumor infiltrating lymphocytes and patient outcomes
PMID: 31375778
Disease Associationsⓘ20
intelligenceOpen Targets
0.40Moderate
Abnormal urine sodium concentrationOpen Targets
0.38Weak
osteoarthritisOpen Targets
0.31Weak
smoking initiationOpen Targets
0.31Weak
mathematical abilityOpen Targets
0.31Weak
autism spectrum disorderOpen Targets
0.31Weak
attention deficit hyperactivity disorderOpen Targets
0.30Weak
insomniaOpen Targets
0.29Weak
liver diseaseOpen Targets
0.29Weak
restless legs syndromeOpen Targets
0.27Weak
food allergyOpen Targets
0.23Weak
corneal ulcerOpen Targets
0.22Weak
ankylosing spondylitisOpen Targets
0.20Weak
VitiligoOpen Targets
0.20Weak
acute tonsillitisOpen Targets
0.19Weak
spontaneous abortionOpen Targets
0.19Weak
Abruptio PlacentaeOpen Targets
0.18Weak
eye diseaseOpen Targets
0.18Weak
exostosisOpen Targets
0.17Weak
iron metabolism diseaseOpen Targets
0.17Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PTBP2Protein interaction89%GLRA2Protein interaction85%FAM107BProtein interaction85%UBR5Protein interaction79%NRXN3Protein interaction77%GABRG2Protein interaction73%
Tissue Expression6 tissues
Brain
100%
Ovary
24%
Heart
13%
Liver
3%
Lung
3%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
NOVA1PTBP2GLRA2FAM107BUBR5NRXN3GABRG2
PROTEIN STRUCTURE
Preparing viewer…
PDB2ANR · 1.94 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.38Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.20 [0.11–0.38]
RankingsWhere NOVA1 stands among ~20K protein-coding genes
  • #6,571of 20,598
    Most Researched72
  • #1,810of 17,882
    Most Constrained (LOEUF)0.38 · top quartile
Genes detectedNOVA1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Reintroduction of the archaic variant of
PMID: 33574182
Science · 2021
1.00
2
NOVA1/2 genes and alternative splicing in neurodevelopment.
PMID: 40555137
Curr Opin Genet Dev · 2025
0.90
3
A humanized NOVA1 splicing factor alters mouse vocal communications.
PMID: 39966351
Nat Commun · 2025
0.80
4
NOVA1 prevents overactivation of the unfolded protein response and facilitates chromatin access during human white adipogenesis.
PMID: 37246706
Nucleic Acids Res · 2023
0.70
5
NOVA1 acts as an oncogenic RNA-binding protein to regulate cholesterol homeostasis in human glioblastoma cells.
PMID: 38416679
Proc Natl Acad Sci U S A · 2024
0.60