| CAPRIN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | CAPRIN1, GPIAP1, GPIP137, GRIP137, M11S1, RNG105, p137GPI, cell cycle associated protein 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 601178 MGI: 1858234 HomoloGene: 4310 GeneCards: CAPRIN1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Caprin-1 is a protein that in humans is encoded by the CAPRIN1 gene.[5][6][7][8][9][10] It is suggested that Caprin1 (a.k.a. RNG105) is essential for the formation of long-term memory.[11]
Clinical significance
In 2022, loss-of-function mutations of the CAPRIN1 gene were shown to result in an autosomal-dominant disorder. Patients having the newly-discovered disorder suffer from language impairment, speech delay, intellectual disability, ADHD and autism spectrum disorder.[12] Somatically, they have respiratory problems, limb/skeletal anomalies, developmental delay, feeding difficulties, seizures and ophthalmologic problems.
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000135387 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027184 - 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.
- ↑ Ellis JA, Luzio JP (September 1995). "Identification and characterization of a novel protein (p137) which transcytoses bidirectionally in Caco-2 cells". The Journal of Biological Chemistry. 270 (35): 20717–20723. doi:10.1074/jbc.270.35.20717. PMID 7657653.
- ↑ Wang B, David MD, Schrader JW (October 2005). "Absence of caprin-1 results in defects in cellular proliferation". Journal of Immunology. 175 (7): 4274–4282. doi:10.4049/jimmunol.175.7.4274. PMID 16177067.
- ↑ Solomon S, Xu Y, Wang B, David MD, Schubert P, Kennedy D, Schrader JW (March 2007). "Distinct structural features of caprin-1 mediate its interaction with G3BP-1 and its induction of phosphorylation of eukaryotic translation initiation factor 2alpha, entry to cytoplasmic stress granules, and selective interaction with a subset of mRNAs". Molecular and Cellular Biology. 27 (6): 2324–42. doi:10.1128/MCB.02300-06. PMC 1820512. PMID 17210633.
- ↑ Grill B, Wilson GM, Zhang KX, Wang B, Doyonnas R, Quadroni M, Schrader JW (February 2004). "Activation/division of lymphocytes results in increased levels of cytoplasmic activation/proliferation-associated protein-1: prototype of a new family of proteins". Journal of Immunology. 172 (4): 2389–2400. doi:10.4049/jimmunol.172.4.2389. PMID 14764709.
- ↑ Katsafanas GC, Moss B (December 2004). "Vaccinia virus intermediate stage transcription is complemented by Ras-GTPase-activating protein SH3 domain-binding protein (G3BP) and cytoplasmic activation/proliferation-associated protein (p137) individually or as a heterodimer". The Journal of Biological Chemistry. 279 (50): 52210–52217. doi:10.1074/jbc.M411033200. PMID 15471883.
- ↑ "Entrez Gene: GPIAP1 GPI-anchored membrane protein 1".
- ↑ Nakayama K, Ohashi R, Shinoda Y, Yamazaki M, Abe M, Fujikawa A, et al. (November 2017). "RNG105/caprin1, an RNA granule protein for dendritic mRNA localization, is essential for long-term memory formation". eLife. 6. doi:10.7554/eLife.29677. PMC 5697933. PMID 29157358.
- ↑ Pavinato L, Delle Vedove A, Carli D, Ferrero M, Carestiato S, Howe JL, Agolini E, Coviello DA, van de Laar I, Au PY, Di Gregorio E, Fabbiani A, Croci S, Mencarelli MA, Bruno LP, Renieri A, Veltra D, Sofocleous C, Faivre L, Mazel B, Safraou H, Denommé-Pichon AS, van Slegtenhorst MA, Giesbertz N, van Jaarsveld RH, Childers A, Rogers RC, Novelli A, De Rubeis S, Buxbaum JD, Scherer SW, Ferrero GB, Wirth B, Brusco A (July 2022). "CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD". Brain: A Journal of Neurology. 146 (2): 534–548. doi:10.1093/brain/awac278. PMC 10169411. PMID 35979925.
Further reading
- Gessler M, Klamt B, Tsaoussidou S, Ellis JA, Luzio JP (February 1996). "The gene encoding the GPI-anchored membrane protein p137GPI (M11S1) maps to human chromosome 11p13 and is highly conserved in the mouse". Genomics. 32 (1): 169–70. doi:10.1006/geno.1996.0099. PMID 8786113.
- de Vries H, Rüegsegger U, Hübner W, Friedlein A, Langen H, Keller W (November 2000). "Human pre-mRNA cleavage factor II(m) contains homologs of yeast proteins and bridges two other cleavage factors". The EMBO Journal. 19 (21): 5895–904. doi:10.1093/emboj/19.21.5895. PMC 305781. PMID 11060040.
- Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, et al. (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
- Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
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