Aliases: GPIAP1, GPIP137, M11S1, RNG105, p137GPI
Chromosome No: 11
Chromosome Band: 11p13
Genetic Category: Functional-Rare single gene variant--Syndromic/Functional
ASD Reports: 7
Recent Reports: 2
Annotated variants: 18
Associated CNVs: 13
Evidence score: 4
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Relevance to Autism
CAPRIN1 interacts with Fragile X Mental Retardation Protein (FMRP) at the level of the translation machinery as well as in trafficking neuronal granules (El Fatimay et al., 2012). A de novo nonsense variant in CAPRIN1 was identified in a male ASD proband (Jiang et al., 2013). Pavinato et al., 2022 identified 12 cases with loss-of-function variants in the CAPRIN1 gene presenting with a neurodevelopmental phenotype characterized by language impairment/speech delay (100%), intellectual disability (83%), ADHD (82%), and autism spectrum disorder (67%); patient-derived lymphoblasts and fibroblasts showed monoallelic expression of the wild-type allele and a reduction of the transcript and protein compatible with haploinsufficiency, and studies assessing CAPRIN1-/- human iPSCs generated by CRISPR/Cas9 demonstrated that loss of CAPRIN1 resulted in reduced neuronal processes, overall disruption of neuronal organization, increased neuronal degeneration, altered RNA translation, and impaired calcium signalling and increased oxidative stress.
Molecular Function
May regulate the transport and translation of mRNAs of proteins involved in synaptic plasticity in neurons and cell proliferation and migration in multiple cell types. In neuronal cells, directly binds to several mRNAs associated with RNA granules, including BDNF, CAMK2A, CREB1, MAP2, NTRK2 mRNAs, as well as to GRIN1 and KPNB1 mRNAs, but not to rRNAs .
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