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NOVA1

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NOVA1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesNOVA1, Nova-1, NOVA alternative splicing regulator 1
External IDsOMIM: 602157; MGI: 104297; HomoloGene: 21296; GeneCards: NOVA1; OMA:NOVA1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002515
NM_006489
NM_006491

RefSeq (protein)
Location (UCSC)Chr 14: 26.44 – 26.6 MbChr 12: 46.69 – 46.82 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000139910Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021047Ensembl, 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. ^ a b "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

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