CCDC55

NSRP1
Identifiers
Aliases	NSRP1 , CCDC55, HSPC095, NSrp70, nuclear speckle splicing regulatory protein 1
External IDs	OMIM: 616173 MGI: 2144305 HomoloGene: 134095 GeneCards: NSRP1
Gene location (Human) Chr. Chromosome 17 (human) [1] Band 17q11.2 Start 30,115,521 bp [1] End 30,186,475 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11|11 B5 Start 76,935,118 bp [2] End 76,969,261 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve tibia parietal pleura visceral pleura Achilles tendon popliteal artery cavity of mouth islet of Langerhans gastric mucosa synovial membrane Top expressed in secondary oocyte hand internal carotid artery supraoptic nucleus otolith organ aortic valve ascending aorta utricle external carotid artery condyle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function mRNA binding protein binding RNA binding Cellular component nucleus nuclear speck nucleoplasm ribonucleoprotein complex Biological process RNA splicing developmental process regulation of alternative mRNA splicing, via spliceosome nucleocytoplasmic transport mRNA processing Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 84081 237859 Ensembl ENSG00000126653 ENSMUSG00000037958 UniProt Q9H0G5 Q5NCR9 RefSeq (mRNA) NM_001033563 NM_001261467 NM_032141 NM_001012309 RefSeq (protein) NP_001248396 NP_115517 NP_001012309 Location (UCSC) Chr 17: 30.12 – 30.19 Mb Chr 11: 76.94 – 76.97 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Coiled-coil domain-containing protein 55 is a protein that in humans is encoded by the CCDC55 gene. ^{[5] [6]} It is now known as nuclear speckle splicing regulatory protein 1. The HGNC approved gene name is NSRP1.

NSRP1 is located within nuclear speckles. ^[7] Speckles are dynamic membrane-less organelles within the nucleus and are rich in RNA splicing factors. ^[8] NSRP1 interacts with other splicing factors including SRSF1 and SRSF2 and modulates pre-mRNA splicing. ^{[7] [9]} Knockout of the mouse ortholog Nsrp1 resulted in early embryonic lethality. ^[7]

Humans with biallelic pathogenic variants in NSRP1 have an autosomal recessive condition called neurodevelopmental disorder with spasticity, seizures, and brain abnormalities (NEDSSBA, MIM 620001). ^{[10] [11]} 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), ^[10] and thus NEDSSBA should be considered a CP disease gene.

References

1. GRCh38: Ensembl release 89: ENSG00000126653 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000037958 - 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. 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 (Mar 2001). "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. doi:10.1101/gr.GR1547R. PMC   311072 . PMID   11230166.
6. "Entrez Gene: CCDC55 coiled-coil domain containing 55".
7. 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. doi:10.1093/nar/gkq1267. ISSN   1362-4962. PMC   3105421 . PMID   21296756.
8. Chen, Yu; Belmont, Andrew S. (April 2019). "Genome organization around nuclear speckles". Current Opinion in Genetics & Development. 55: 91–99. doi:10.1016/j.gde.2019.06.008. ISSN   1879-0380. PMC   6759399 . PMID   31394307.
9. 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. doi: 10.1074/jbc.M115.689414 . ISSN   1083-351X. PMC   4813587 . PMID   26797131.
10. 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. doi:10.1038/s41436-021-01291-x. ISSN   1530-0366. PMC   8633036 . PMID   34385670.
11. "Entry - #620001 - NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES; NEDSSBA - OMIM". omim.org. Retrieved 2023-01-22.

External links

• Human NSRP1 genome location and NSRP1 gene details page in the UCSC Genome Browser .

Further reading

• Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC   310948 . PMID   11076863.
• Simpson JC, Wellenreuther R, Poustka A, et al. (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC   1083732 . PMID   11256614.
• 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.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• 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.
• Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to biology: a functional genomics pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC   528930 . PMID   15489336.
• Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC   1347501 . PMID   16381901.
• Beausoleil SA, Villén J, Gerber SA, et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nat. Biotechnol. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID   16964243. S2CID   14294292.
• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi: 10.1016/j.cell.2006.09.026 . PMID   17081983. S2CID   7827573.