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Chromosome 16 open reading frame 78 (C16orf78)

Target
C16orf78
Molecular classification
Other (Uncharacterized protein; Protein of unknown function; DUF4638 family [domain of unknown function][6])
01

Overview

Chromosome 16 open reading frame 78 (C16orf78) encodes a protein of 265 amino acids in humans, with a molecular weight of approximately 30.8 kDa and a predicted isoelectric point of 9.8[1]. The gene is located at 16q12.1 and contains five exons with a single known mRNA transcript[1][4]. Structural predictions suggest an alpha-helical, coiled-coil protein with low-confidence ab initio models and predicted nuclear localization based on the presence of a bipartite nuclear localization signal[1]. Post-translational modifications include verified ubiquitination and phosphorylation sites[1]. C16orf78 protein expression is highly enriched in testis tissue and nearly absent from other tissues[1][5]. Functionally, it has been shown to physically interact with DNA/RNA-binding protein KIN17 and to be phosphorylated by kinases SRPK1 and SPRK2, hinting at a possible role in nuclear processes such as DNA repair[1]. Deletion or mutation in C16orf78 has been found as a genomic determinant in prostate cancer and possibly associated with testicular function and limited evidence connects duplications to Rolandic Epilepsy[1][4]. To date, C16orf78 remains uncharacterized, lacks clear assignment to a classical protein family, and there is no evidence it is an established or actionable therapeutic target[1][4][6].

Other names
Uncharacterized protein C16orf78MGC33367CP078 proteinC16orf78
02

Mechanism of action

No drug mechanism established due to lack of therapeutic targeting

03

Biological functions

Other (Putative role in DNA repair suggested by physical association with DNA/RNA-binding protein KIN17[1])Other (Putative involvement in spermatogenesis or testicular function due to highly restricted testis expression[1])Other (Possible role as a mitochondrial antioxidant due to high methionine content, but this is hypothetical and unproven[1])
04

Disease associations

Cancer (Associated with risk of prostate cancer via deletion or SNP interactions[1])Neurodevelopmental disease (Reported association with Rolandic Epilepsy in one case due to gene duplication[1])Other (Amplification associated with metabolically adaptive cancer cells[1])Other (Listed association with Adams-Oliver Syndrome[4], but this may be indirect or limited evidence)

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