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Chromosome 15 open reading frame 39 (C15orf39)

Target
C15orf39
Molecular classification
Other (current evidence does not support classification as receptor, enzyme, transporter, ion channel, transcription factor, or histone; it is an uncharacterized or "other" protein)
01

Overview

Chromosome 15 open reading frame 39 is a cytosolic protein encoded by the C15orf39 gene, located on chromosome 15q24.2 with at least seven transcript isoforms, the longest encoding a 1047 amino acid protein[2]. The protein features a high proline content, four predicted domains—including a proline-rich domain, alanine-rich domain, viral tegument-like UL36 domain, and WASP-homology 2 (WH2) actin-binding domain—and undergoes post-translational modifications such as phosphorylation, acetylation, sumoylation, and O-glycosylation at conserved sites[2]. C15orf39 has demonstrated interactions with proteins involved in ribosomal translation and cytoplasmic transport (e.g., RPLP1, EIF4ENIF1), suggesting a possible structural or regulatory role, but its exact biological function remains uncharacterized. Expression is highest in neuronal ganglia, blood, and heart, and a possible altered role has been noted in Hepatoerythropoietic Porphyria, but direct involvement in disease or therapeutic targeting is unconfirmed[2][5].

Other names
C15orf39FP6578DKFZP434H132FLJ46337
02

Biological functions

Other (demonstrated protein–protein interactions, cytosolic localization, and possible actin binding per WASP-homology domain 2; no established cellular pathway)
03

Disease associations

Other (Gene mutation has a reported association with Hepatoerythropoietic Porphyria, but there is no evidence for causality or major disease mechanism)

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