NOVA1

NOVA1
Identifiers
Aliases	NOVA1, Nova-1, NOVA alternative splicing regulator 1
External IDs	OMIM: 602157; MGI: 104297; GeneCards: NOVA1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1DT4, 2ANN, 2ANR
Gene location (Human) Chr. Chromosome 14 (human) Band 14q12 Start 26,443,093 bp End 26,597,754 bp
Gene location (Mouse) Chr. Chromosome 12 (mouse) Band 12 B3|12 21.46 cM Start 46,694,517 bp End 46,818,929 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in cerebellum cerebellar hemisphere C1 segment hypothalamus paraflocculus of cerebellum Brodmann area 46 right hemisphere of cerebellum prefrontal cortex pons synovial joint Top expressed in lumbar subsegment of spinal cord dorsomedial hypothalamic nucleus lateral hypothalamus central gray substance of midbrain paraventricular nucleus of hypothalamus medial vestibular nucleus cerebellar cortex superior colliculus deep cerebellar nuclei inferior colliculi More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleic acid binding mRNA binding RNA binding protein binding Cellular component nucleolus intracellular membrane-bounded organelle nucleus Biological process mRNA splicing, via spliceosome RNA processing locomotory behavior RNA splicing regulation of RNA metabolic process chemical synaptic transmission negative regulation of cold-induced thermogenesis Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 4857 664883 Ensembl ENSG00000139910 ENSMUSG00000021047 UniProt P51513 Q9JKN6 RefSeq (mRNA) NM_002515 NM_006489 NM_006491 NM_021361 NM_001364634 NM_001364635 NM_001364636 NM_001364637 NM_001364638 NM_001364639 RefSeq (protein) NP_002506 NP_006480 NP_006482 NP_001353319 NP_001353320 NP_001353321 NP_001353322 NP_001353323 NP_001353324 NP_001353325 NP_001353326 NP_001353327 NP_067336 NP_001351563 NP_001351564 NP_001351565 NP_001351566 NP_001351567 NP_001351568 Location (UCSC) Chr 14: 26.44 – 26.6 Mb Chr 12: 46.69 – 46.82 Mb PubMed search
Wikidata
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RNA-binding protein Nova-1 is a protein that in humans is encoded by the NOVA1 gene.

This gene encodes a neuron-specific RNA-binding protein, a member of the Nova family of paraneoplastic disease antigens, that is recognized and inhibited by paraneoplastic antibodies. These antibodies are found in the sera of patients with paraneoplastic opsoclonus-ataxia, breast cancer, and small cell lung cancer. Alternatively spliced transcripts encoding distinct isoforms have been described. Both Neanderthals and Denisovans had one version and nearly all modern humans had another suggesting positive selection. Insertion of Neanderthal gene variant of the neuro-oncological ventral antigen 1 (NOVA1) gene into human cortical organoids might promote slower development and higher surface complexity in the brain models, but this may be an artefact of a CRISPR side effect, as it could not be replicated in a subsequent study.

Further reading

• Buckanovich RJ, Posner JB, Darnell RB (1993). "Nova, the paraneoplastic Ri antigen, is homologous to an RNA-binding protein and is specifically expressed in the developing motor system". Neuron. 11 (4): 657–672. doi:10.1016/0896-6273(93)90077-5. PMID 8398153. S2CID 22554933.
• Buckanovich RJ, Darnell RB (1997). "The neuronal RNA binding protein Nova-1 recognizes specific RNA targets in vitro and in vivo". Molecular and Cellular Biology. 17 (6): 3194–3201. doi:10.1128/MCB.17.6.3194. PMC 232172. PMID 9154818.
• Lewis HA, Chen H, Edo C, Buckanovich RJ, Yang YY, Musunuru K, et al. (February 1999). "Crystal structures of Nova-1 and Nova-2 K-homology RNA-binding domains". Structure. 7 (2). London: 191–203. doi:10.1016/S0969-2126(99)80025-2. PMID 10368286.
• Jensen KB, Dredge BK, Stefani G, Zhong R, Buckanovich RJ, Okano HJ, et al. (February 2000). "Nova-1 regulates neuron-specific alternative splicing and is essential for neuronal viability". Neuron. 25 (2): 359–371. doi:10.1016/S0896-6273(00)80900-9. PMID 10719891.
• Dias Neto E, Correa RG, Verjovski-Almeida S, Briones MR, Nagai MA, da Silva W, et al. (March 2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proceedings of the National Academy of Sciences of the United States of America. 97 (7): 3491–3496. Bibcode:2000PNAS...97.3491D. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800.
• Dredge BK, Darnell RB (2003). "Nova regulates GABA(A) receptor gamma2 alternative splicing via a distal downstream UCAU-rich intronic splicing enhancer". Molecular and Cellular Biology. 23 (13): 4687–4700. doi:10.1128/MCB.23.13.4687-4700.2003. PMC 164843. PMID 12808107.
• Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, et al. (June 2004). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nature Biotechnology. 22 (6): 707–716. doi:10.1038/nbt971. PMID 15146197. S2CID 27764390.
• Ule J, Ule A, Spencer J, Williams A, Hu JS, Cline M, et al. (August 2005). "Nova regulates brain-specific splicing to shape the synapse". Nature Genetics. 37 (8): 844–852. doi:10.1038/ng1610. PMID 16041372. S2CID 8446567.
• Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, et al. (May 2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–814. doi:10.1016/j.cell.2006.03.032. PMID 16713569.