NOVA1

NOVA1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1DT4, 2ANN, 2ANR
Identifiers
Aliases	NOVA1 , Nova-1, NOVA alternative splicing regulator 1
External IDs	OMIM: 602157; MGI: 104297; HomoloGene: 21296; GeneCards: NOVA1; OMA:NOVA1 - orthologs
Gene location (Human) Chr. Chromosome 14 (human) [1] Band 14q12 Start 26,443,093 bp [1] End 26,597,754 bp [1]
Gene location (Mouse) Chr. Chromosome 12 (mouse) [2] Band 12 B3|12 21.46 cM Start 46,694,517 bp [2] End 46,818,929 bp [2]
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 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 [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

RNA-binding protein Nova-1 is a protein that in humans is encoded by the NOVA1 gene. ^{[5] [6]}

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. ^[6] 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, ^[7] but this may be an artefact of a CRISPR side effect, ^{[8] [9]} as it could not be replicated in a subsequent study. ^[10]

References

1. GRCh38: Ensembl release 89: ENSG00000139910 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000021047 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Buckanovich RJ, Yang YY, Darnell RB (Feb 1996). "The onconeural antigen Nova-1 is a neuron-specific RNA-binding protein, the activity of which is inhibited by paraneoplastic antibodies". J Neurosci. 16 (3): 1114–22. doi:10.1523/JNEUROSCI.16-03-01114.1996. PMC   6578795 . PMID   8558240.
6. "Entrez Gene: NOVA1 neuro-oncological ventral antigen 1".
7. "Neanderthal Gene Variant Alters Neurodevelopment in Human Brain Organoids". 11 February 2021.
8. Maricic T, Helmbrecht N, Riesenberg S, Macak D, Kanis P, Lackner M, Pugach-Matveeva AD, Pääbo S (2021-10-15). "Comment on "Reintroduction of the archaic variant of NOVA1 in cortical organoids alters neurodevelopment"". Science. 374 (6565): eabi6060. doi:10.1126/science.abi6060. ISSN   0036-8075. PMID   34648345. S2CID   238990790.
9. Herai RH, Szeto RA, Trujillo CA, Muotri AR (2021-10-15). "Response to Comment on "Reintroduction of the archaic variant of NOVA1 in cortical organoids alters neurodevelopment"". Science. 374 (6565): eabi9881. doi:10.1126/science.abi9881. ISSN   0036-8075. PMID   34648331. S2CID   238990560.
10. Riesenberg S, Kanis P, Macak D, Wollny D, Düsterhöft D, Kowalewski J, Helmbrecht N, Maricic T, Pääbo S (2023-07-20). "Efficient high-precision homology-directed repair-dependent genome editing by HDRobust". Nature Methods. 20 (9): 1388–1399. doi: 10.1038/s41592-023-01949-1 . ISSN   1548-7091. PMC   10482697 . PMID   37474806.

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): 657–72. 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". Mol. Cell. Biol. 17 (6): 3194–201. doi:10.1128/MCB.17.6.3194. PMC   232172 . PMID   9154818.
• Lewis HA, Chen H, Edo C, et al. (1999). "Crystal structures of Nova-1 and Nova-2 K-homology RNA-binding domains". Structure. 7 (2): 191–203. doi: 10.1016/S0969-2126(99)80025-2 . PMID   10368286.
• Jensen KB, Dredge BK, Stefani G, et al. (2000). "Nova-1 regulates neuron-specific alternative splicing and is essential for neuronal viability". Neuron. 25 (2): 359–71. doi: 10.1016/S0896-6273(00)80900-9 . PMID   10719891.
• Dias Neto E, Correa RG, Verjovski-Almeida S, et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. Bibcode:2000PNAS...97.3491D. doi: 10.1073/pnas.97.7.3491 . PMC   16267 . PMID   10737800.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Dredge BK, Darnell RB (2003). "Nova regulates GABA(A) receptor gamma2 alternative splicing via a distal downstream UCAU-rich intronic splicing enhancer". Mol. Cell. Biol. 23 (13): 4687–700. doi:10.1128/MCB.23.13.4687-4700.2003. PMC   164843 . PMID   12808107.
• Brandenberger R, Wei H, Zhang S, et al. (2005). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nat. Biotechnol. 22 (6): 707–16. doi:10.1038/nbt971. PMID   15146197. S2CID   27764390.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Ule J, Ule A, Spencer J, et al. (2005). "Nova regulates brain-specific splicing to shape the synapse". Nat. Genet. 37 (8): 844–52. doi:10.1038/ng1610. PMID   16041372. S2CID   8446567.
• Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi: 10.1016/j.cell.2006.03.032 . PMID   16713569.