CWF19-like cell cycle control factor 1 (CWF19L1)

CWF19-like cell cycle control factor 1 (CWF19L1) encodes a highly conserved protein and is a member of the CWF19 protein family. It is implicated as an RNA splicing factor, promoting correct alternative splicing through its integration with spliceosome components, particularly with U5 small nuclear ribonucleoprotein (snRNP) and PRPF19 complex[2][3]. Biological and clinical studies show that CWF19L1 is essential for neurodevelopment and motor coordination, with loss-of-function mutations causing autosomal recessive spinocerebellar ataxia 17, characterized by early-onset ataxia, intellectual disability, and progressive cerebellar atrophy[1][5]. It is also expressed in immune cells, where it regulates T-cell cytotoxicity by influencing mRNA splicing of immune effector genes—its deficiency impairs cytokine production and granzyme B expression, reducing anti-tumor activity[2]. Emerging evidence indicates CWF19L1 may have tumor suppressor functions in glioma, promoting degradation of CDK4/6 and causing G1 cell cycle arrest, and may serve as a prognostic biomarker in certain brain tumors[1]. Additionally, CWF19L1 is part of a genomic cluster linked to nonalcoholic fatty liver disease, although its direct functional role in hepatic disease remains to be confirmed[1]. No specific approved drugs currently target CWF19L1, but its prominent roles in mRNA processing, cell cycle regulation, and antitumor immunity make it a novel, emerging target for drug discovery, particularly within oncology and neurodegeneration research[1][2][5].

Other names

CWF19-like protein 1C19L1FLJ10998hDrn1human Dbr1 associated ribonuclease 1SCAR17

Modulates spliceosome assembly and function; may influence immune gene splicing and effector cytokine production, induces G1 cell cycle arrest by promoting CDK4/6 degradation[1][2].