Uncharacterized protein KIAA0513 (KIAA0513)

Uncharacterized protein KIAA0513 is a cytoplasmic protein expressed most abundantly in the brain, particularly in neurons and glial cells, with the highest levels found in regions such as the cerebellum, cortex, hippocampus, pons, putamen, and amygdala[9][2][4]. Although its precise molecular function remains unclear, KIAA0513 has been shown to interact with proteins such as KIBRA, HAX1, and INTS4, implicating it in neuroplasticity, apoptotic signaling, and cytoskeletal regulation[4][12]. KIAA0513 mRNA and protein are enriched in the central nervous system, and its differential expression has been linked to diseases like schizophrenia, Alzheimer's disease (AD), and other neurodegenerative disorders[12][3][4]. Recent research indicates that serum antibodies against KIAA0513 may serve as common biomarkers for vascular, metabolic, and cancer conditions (including acute ischemic stroke, transient ischemic attack, diabetes mellitus, cardiovascular and kidney diseases, and various solid tumors)[2]. In Alzheimer's disease, KIAA0513 is downregulated in affected brain regions and may act as a biomarker for early diagnosis and disease monitoring, with its low neuronal expression associated with synaptic dysfunction and neuronal loss[3]. There are multiple splicing isoforms of the protein, most notably isoform a (411 amino acids) and isoform c (301 amino acids), with autoantibody epitopes present within the first 301 amino acids[2]. Despite its involvement in important cellular processes and disease states, KIAA0513 is not currently recognized as a direct therapeutic target, and no known drugs are reported to interact directly with it[3][2][12].

Other names

KIAA0513uncharacterized protein KIAA0513