NOVA1

Protein-coding gene in the species Homo sapiens

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

[edit]

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000139910 – Ensembl, May 2017
2. ^ a b c 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. ^ 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

[edit]

* 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.

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PDB gallery

* 1dt4: CRYSTAL STRUCTURE OF NOVA-1 KH3 K-HOMOLOGY RNA-BINDING DOMAIN

* 1ec6: CRYSTAL STRUCTURE OF NOVA-2 KH3 K-HOMOLOGY RNA-BINDING DOMAIN BOUND TO 20-MER RNA HAIRPIN

* 2ann: Crystal structure (I) of Nova-1 KH1/KH2 domain tandem with 25 nt RNA hairpin

* 2anr: Crystal structure (II) of Nova-1 KH1/KH2 domain tandem with 25nt RNA hairpin

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