NOVA1: A Master Regulator of Neuronal RNA Splicing
Comprehensive gene card for NOVA1, including genomic context, expression, mutations, and clinical significance.
Gene Information Card
| Symbol | NOVA1 |
|---|---|
| Full Name | neuro-oncological ventral antigen 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q12 |
| NCBI Gene ID | 4857 ncbi.nlm.nih.gov/gene/4857 |
| Ensembl ID | ENSG00000139910 |
| UniProt ID | P51531 |
| OMIM ID | 602157 |
| HGNC ID | 7870 |
| Aliases | NOVA, paraneoplastic Ri antigen, Ri protein |
Description
NOVA1 (neuro-oncological ventral antigen 1) encodes a neuron-specific RNA-binding protein that regulates alternative splicing of pre-mRNAs in the nervous system. It is the target antigen in paraneoplastic opsoclonus-myoclonus ataxia (POMA), an autoimmune neurological disorder often associated with breast or ovarian cancer. NOVA1 binds to YCAY clusters in pre-mRNA and modulates exon inclusion or exclusion, playing a critical role in neuronal development and synaptic function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Paraneoplastic opsoclonus-myoclonus ataxia (POMA) | Autoantibodies against NOVA1 disrupt its RNA splicing function in neurons, leading to neurological symptoms. | OMIM #602157; NCBI Gene; ClinVar |
| Breast cancer | NOVA1 is aberrantly expressed in breast tumors and may contribute to oncogenic splicing programs. | COSMIC; NCBI Gene |
| Ovarian cancer | NOVA1 expression is detected in ovarian tumors and is associated with paraneoplastic syndromes. | COSMIC; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 45.2 | High |
| Cerebellum | 62.8 | High |
| Cerebral cortex | 38.5 | High |
| Spinal cord | 28.1 | Medium |
| Testis | 2.3 | Low |
| Breast | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 52.1 | Neuronal cell line |
| SK-N-SH (neuroblastoma) | 48.7 | Neuronal cell line |
| MCF7 (breast cancer) | 1.2 | Low expression |
| HeLa (cervical cancer) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.1% | Unknown; found in cancer samples |
| c.1567G>A (p.Gly523Arg) | Missense | <0.1% | Unknown; found in cancer samples |
| c.789_790insA (p.Glu264Argfs*12) | Frameshift | <0.1% | Loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein, disrupting RNA-binding domains.
Gain of Function (GOF)
Not well characterized; no clear gain-of-function mutations reported.
Dominant Negative (DN)
Not reported for NOVA1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Alternative splicing regulation (Reactome: R-HSA-72172)
• mRNA Splicing - Major Pathway (Reactome: R-HSA-72163)
• Neuronal System (Reactome: R-HSA-112316)
Protein Summary
The NOVA1 protein is a 510-amino acid RNA-binding protein containing three KH domains (hnRNP K homology domains) that specifically recognize YCAY motifs in pre-mRNA. It shuttles between the nucleus and cytoplasm, but primarily functions in the nucleus to regulate alternative splicing of genes involved in neuronal development, axon guidance, and synaptic function. NOVA1 is highly expressed in the brain and is essential for proper motor neuron function and survival.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NOVA1 Knockout HEK293 Cell Line | EDJ-KQ175 | Human | 4857 | Details Get a Quote |
| NOVA1 Knockout A-549 Cell Line | EDJ-KQ19985 | Human | 4857 | Details Get a Quote |
| NOVA1 Knockout HeLa Cell Line | EDJ-KQ54009 | Human | 4857 | Details Get a Quote |
| NOVA1 Knockout HCT 116 Cell Line | EDJ-KQ70968 | Human | 4857 | Details Get a Quote |
