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Chromosome 5 open reading frame 46 (C5orf46)

Target
C5orf46
Molecular classification
Other
01

Overview

Chromosome 5 open reading frame 46 (C5orf46) encodes a small, mammalian-specific, secreted protein found in extracellular exosomes. Frequently referred to as skin and saliva secreted protein 1 (SSSP1) or antimicrobial peptide AP-64, C5orf46 exhibits direct antimicrobial activity, particularly against Gram-negative bacteria, and is implicated in innate immune functions at epithelial surfaces such as skin and oral mucosa[1][2][5]. In cancer biology, particularly in renal and gastrointestinal cancers, C5orf46 is highly expressed and correlates with poor prognosis. Experimental data show that C5orf46 promotes cell proliferation, migration, and inhibits apoptosis in tumor cells, suggesting a role in tumor progression and the modulation of the tumor immune microenvironment[1][2][3]. Furthermore, C5orf46 expression is associated with tumor mutational burden and microsatellite instability in some cancers, highlighting its value as a prognostic biomarker and its relevance in immuno-oncology[2][3]. No approved targeted drugs or therapeutic inhibitors of C5orf46 are currently reported.

Other names
C5orf46SSSP1AP-64skin and saliva secreted protein 1UNQ472/PRO839MGC23985CTC-327F10.5
02

Biological functions

Antimicrobial activityImmune responseCell proliferationCell adhesionRegulation of apoptosisModulation of tumor immune microenvironment
03

Disease associations

Cancer (notably renal, gastric, pancreatic, colon, and stomach cancer)InflammationImmune-mediated skin disease (e.g., hand eczema/VHE)
04

Biomarkers

Prognostic biomarker for renal cancerPrognostic biomarker for gastrointestinal tumors (pancreatic, colon, stomach)Potential biomarker for immune microenvironment and TMB/MSI status in some cancers

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