Chromosome 19 open reading frame 81 (C19orf81)

Chromosome 19 open reading frame 81 (C19orf81) is a protein in humans encoded by the C19orf81 gene, located at chromosome 19q13.33. It is a rarely expressed, 198-amino-acid protein mainly found in the testes, cerebellum, and cerebral cortex. The protein contains a domain of unknown function (DUF4732) and is predicted to be localized in both the cytoplasm and nucleus. Its mRNA expression is regulated—at least partially—by the KMT2D transcription factor, with evidence suggesting a potential role in early-stage spermatogonial cells and, possibly, in spermatogonial stem cell differentiation and growth. Post-translational modifications include predicted phosphorylation sites for CK2 and PKC, both kinases involved in broad cellular processes, but C19orf81 itself is not a well-established component of these pathways. Currently, C19orf81 is not considered a therapeutic target, and there are no known drugs, biomarkers, or defined safety concerns associated with it. It is classified as an uncharacterized protein, and its functions and relevance to disease are largely unknown. It is referred to in some studies as potentially part of panels showing transcriptional dysregulation in Kabuki syndrome models, but there is no evidence for direct involvement in disease mechanisms or drug targeting.

Other names

C19orf81C9J6K1putative uncharacterized protein C19orf81