CCDC55

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
Identifiers
AliasesNSRP1, CCDC55, HSPC095, NSrp70, nuclear speckle splicing regulatory protein 1
External IDsOMIM: 616173 MGI: 2144305 HomoloGene: 134095 GeneCards: NSRP1
Orthologs
SpeciesHumanMouse
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 MbChr 11: 76.94 – 76.97 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.

Further reading


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