CAPRIN1

Description

The CAPRIN1 (cell cycle associated protein 1) is a protein-coding gene located on chromosome 11.

Caprin-1 is a protein that in humans is encoded by the CAPRIN1 gene. It is suggested that Caprin1 (a.k.a. RNG105) is essential for the formation of long-term memory.

== 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. Somatically, they have respiratory problems, limb/skeletal anomalies, developmental delay, feeding difficulties, seizures and ophthalmologic problems.

CAPRIN1 is an mRNA-binding protein that regulates mRNA transport, translation, and stability. It plays a role in synaptic plasticity in neurons and cell proliferation and migration in multiple cell types. CAPRIN1 acts as an mRNA regulator by mediating the formation of phase-separated membraneless compartments. It undergoes liquid-liquid phase separation upon binding to target mRNAs, assembling them into cytoplasmic ribonucleoprotein granules that concentrate mRNAs with associated regulatory factors. CAPRIN1 undergoes liquid-liquid phase separation following phosphorylation and interaction with FMR1, promoting the formation of cytoplasmic ribonucleoprotein granules that concentrate mRNAs with factors that inhibit translation and mediate deadenylation of target mRNAs. Within these granules, CAPRIN1 mediates the recruitment of CNOT7 deadenylase, leading to mRNA deadenylation and degradation. CAPRIN1 binds directly and selectively to MYC and CCND2 mRNAs. In neuronal cells, it 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.

CAPRIN1 is also known as CONDCAC, GPIAP1, GPIP137, GRIP137, M11S1, NEDLAAD, RNG105, p137GPI.

Associated Diseases

WES Whole Exome Sequencing