CCDC55 explained

Nuclear speckle splicing regulatory protein 1 is a protein that in humans is encoded by the NSRP1 gene.^{[1] [2]}

NSRP1 is located within nuclear speckles. Speckles are dynamic membrane-less organelles within the nucleus and are rich in RNA splicing factors.^[3] NSRP1 interacts with other splicing factors including SRSF1 and SRSF2 and modulates pre-mRNA splicing.^{[4] [5]} Knockout of the mouse ortholog Nsrp1 resulted in early embryonic lethality.

Humans with biallelic pathogenic variants in NSRP1 have an autosomal recessive condition called neurodevelopmental disorder with spasticity, seizures, and brain abnormalities (NEDSSBA, MIM 620001).^{[6] [7]} Affected individuals have delayed developmental milestones, axial hypotonia, appendicular spasticity, epilepsy, and often microcephaly. Brain abnormalities including under-opercularization, cerebellar atrophy, and thinning of the corpus callosum can be seen. Patients with NEDSSBA often have a clinical diagnosis of spastic cerebral palsy (CP), and thus NEDSSBA should be considered a CP disease gene.

Further reading

• Hartley JL, Temple GF, Brasch MA . DNA cloning using in vitro site-specific recombination. . Genome Res. . 10 . 11 . 1788–95 . 2001 . 11076863 . 10.1101/gr.143000 . 310948 .
• Simpson JC, Wellenreuther R, Poustka A . Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. . EMBO Rep. . 1 . 3 . 287–92 . 2001 . 11256614 . 10.1093/embo-reports/kvd058 . 1083732 . etal.
• Strausberg RL, Feingold EA, Grouse LH . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . etal. free .
• Gerhard DS, Wagner L, Feingold EA . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . etal.
• Wiemann S, Arlt D, Huber W . From ORFeome to biology: a functional genomics pipeline. . Genome Res. . 14 . 10B . 2136–44 . 2004 . 15489336 . 10.1101/gr.2576704 . 528930 . etal.
• Mehrle A, Rosenfelder H, Schupp I . The LIFEdb database in 2006. . Nucleic Acids Res. . 34 . Database issue . D415–8 . 2006 . 16381901 . 10.1093/nar/gkj139 . 1347501 . etal.
• Beausoleil SA, Villén J, Gerber SA . A probability-based approach for high-throughput protein phosphorylation analysis and site localization. . Nat. Biotechnol. . 24 . 10 . 1285–92 . 2006 . 16964243 . 10.1038/nbt1240 . 14294292 . etal.
• Olsen JV, Blagoev B, Gnad F . Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. . Cell . 127 . 3 . 635–48 . 2006 . 17081983 . 10.1016/j.cell.2006.09.026 . 7827573 . etal. free .

Notes and References

1. Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Bocher M, Blocker H, Bauersachs S, Blum H, Lauber J, Dusterhoft A, Beyer A, Kohrer K, Strack N, Mewes HW, Ottenwalder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A . Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs . Genome Res . 11 . 3 . 422–35 . Mar 2001 . 11230166 . 311072 . 10.1101/gr.GR1547R .
2. Web site: NSRP1 nuclear speckle splicing regulatory protein 1 [Homo sapiens (human) ]]. 17 June 2024.
3. Chen . Yu . Belmont . Andrew S. . April 2019 . Genome organization around nuclear speckles . Current Opinion in Genetics & Development . 55 . 91–99 . 10.1016/j.gde.2019.06.008 . 1879-0380 . 6759399 . 31394307.
4. Kim . Young-Dae . Lee . Jung-Yoon . Oh . Kyu-Man . Araki . Masatake . Araki . Kimi . Yamamura . Ken-ichi . Jun . Chang-Duk . May 2011 . NSrp70 is a novel nuclear speckle-related protein that modulates alternative pre-mRNA splicing in vivo . Nucleic Acids Research . 39 . 10 . 4300–4314 . 10.1093/nar/gkq1267 . 1362-4962 . 3105421 . 21296756.
5. Kim . Chang-Hyun . Kim . Young-Dae . Choi . Eun-Kyung . Kim . Hye-Ran . Na . Bo-Ra . Im . Sin-Hyeog . Jun . Chang-Duk . 2016-03-18 . Nuclear Speckle-related Protein 70 Binds to Serine/Arginine-rich Splicing Factors 1 and 2 via an Arginine/Serine-like Region and Counteracts Their Alternative Splicing Activity . The Journal of Biological Chemistry . 291 . 12 . 6169–6181 . 10.1074/jbc.M115.689414 . 1083-351X . 4813587 . 26797131. free .
6. Calame . Daniel G. . Bakhtiari . Somayeh . Logan . Rachel . Coban-Akdemir . Zeynep . Du . Haowei . Mitani . Tadahiro . Fatih . Jawid M. . Hunter . Jill V. . Herman . Isabella . Pehlivan . Davut . Jhangiani . Shalini N. . Person . Richard . Schnur . Rhonda E. . Jin . Sheng Chih . Bilguvar . Kaya . December 2021 . Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy . Genetics in Medicine. 23 . 12 . 2455–2460 . 10.1038/s41436-021-01291-x . 1530-0366 . 8633036 . 34385670.
7. Web site: Entry - #620001 - NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES; NEDSSBA - OMIM . 2023-01-22 . omim.org . en-us.