Nuclear speckle splicing regulatory protein 1 is a protein that in humans is encoded by the NSRP1 gene .[ 5] [ 6]
NSRP1 is located within nuclear speckles .[ 7] membrane-less organelles within the nucleus and are rich in RNA splicing factors .[ 8] 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] 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]
^ a b c GRCh38: Ensembl release 89: ENSG00000126653 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037958 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ 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 . ^ "NSRP1 nuclear speckle splicing regulatory protein 1 [ Homo sapiens (human) ]" . 17 June 2024.^ a b c 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 . ^ 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 . ^ 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 . ^ a b 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 . ^ "Entry - #620001 - NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES; NEDSSBA - OMIM" . omim.org . Retrieved 2023-01-22 .
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