G patch domain-containing protein 11 (GPATCH11)

G patch domain-containing protein 11 (GPATCH11) is a nuclear protein containing a G-patch domain, implicated in the regulation of RNA metabolism, particularly RNA processing, splicing, and transcription regulation[1][2][3][5][6][7][8][9]. GPATCH11 displays nucleoplasmic and centrosomal localization in cells, with evidence for roles in photoreceptor function, synaptic plasticity, and nuclear stress response[1][2]. Loss-of-function variants in GPATCH11 have been linked to a human syndrome characterized by early-onset severe retinal degeneration, intellectual disability or neurological symptoms, and skeletal anomalies[1][2]. While some aliases refer to centromere or kinetochore localization (such as CENP-Y), current experimental data indicate primary distribution in the nucleus and centrosome, and not at the centromere[1]. GPATCH11 belongs to a family of G-patch domain proteins broadly involved in RNA metabolism. There are no known drugs or clinical modulators of this protein, and it is not considered a common pharmacological or therapeutic target at present.

Other names

CCDC75CENP-YCENPYFLJ38348coiled-coil domain-containing protein 75centromere protein Yg patch domain containing 11