NOVA1

Last updated
NOVA1
Protein NOVA1 PDB 1dt4.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases NOVA1 , Nova-1, NOVA alternative splicing regulator 1
External IDs OMIM: 602157 MGI: 104297 HomoloGene: 21296 GeneCards: NOVA1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002515
NM_006489
NM_006491

RefSeq (protein)
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]

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<span class="mw-page-title-main">Robert B. Darnell</span> American biochemist (born 1957)

Robert Bernard Darnell is an American neurooncologist and neuroscientist, founding director and former CEO of the New York Genome Center, the Robert and Harriet Heilbrunn Professor of Cancer Biology at The Rockefeller University, and an Investigator of the Howard Hughes Medical Institute. His research into rare autoimmune brain diseases led to the invention of the HITS-CLIP method to study RNA regulation, and he is developing ways to explore the regulatory portions—known as the "dark matter"—of the human genome.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000139910 - Ensembl, May 2017
  2. 1 2 3 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. 1 2 "Entrez Gene: NOVA1 neuro-oncological ventral antigen 1".
  7. "Neanderthal Gene Variant Alters Neurodevelopment in Human Brain Organoids". 11 February 2021.
  8. Maricic, Tomislav; Helmbrecht, Nelly; Riesenberg, Stephan; Macak, Dominik; Kanis, Philipp; Lackner, Martin; Pugach-Matveeva, Agrafena Daria; Pääbo, Svante (2021-10-15). "Comment on "Reintroduction of the archaic variant of NOVA1 in cortical organoids alters neurodevelopment"". Science. 374 (6565). doi:10.1126/science.abi6060. ISSN   0036-8075.
  9. Herai, Roberto H.; Szeto, Ryan A.; Trujillo, Cleber A.; Muotri, Alysson R. (2021-10-15). "Response to Comment on "Reintroduction of the archaic variant of NOVA1 in cortical organoids alters neurodevelopment"". Science. 374 (6565). doi:10.1126/science.abi9881. ISSN   0036-8075.
  10. Riesenberg, Stephan; Kanis, Philipp; Macak, Dominik; Wollny, Damian; Düsterhöft, Dorothee; Kowalewski, Johannes; Helmbrecht, Nelly; Maricic, Tomislav; Pääbo, Svante (2023-07-20). "Efficient high-precision homology-directed repair-dependent genome editing by HDRobust". Nature Methods. doi: 10.1038/s41592-023-01949-1 . ISSN   1548-7091.

Further reading