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C3orf49 pseudogene 1 (C3orf49P1)
- Target
- C3orf49P1
- Molecular classification
- Other (Pseudogene)
01
Overview
C3orf49 pseudogene 1 (C3orf49P1) is a non-protein-coding pseudogene found in the human genome, annotated by HGNC (symbol: C3orf49P1, accession: HGNC:55036)[3][6], and located on Chromosome X (GRCh38:CM000685.2; position 102,006,883-102,007,294)[3]. Pseudogenes such as C3orf49P1 are typically regarded as evolutionary remnants of protein-coding genes that have acquired disabling mutations and do not encode functional proteins[7]. Some pseudogenes, in certain contexts, can play regulatory roles at the RNA level by competing for regulatory elements or modulating the expression of their parent genes or related loci[1][7]. However, there is no experimental evidence that C3orf49P1 has any such function or relevance to disease. It is not currently considered a therapeutic target or biomarker in any condition.
- Other names
- C3orf49P1C3orf49 pseudogene 1
02
Mechanism of action
Not applicable (no drugs target C3orf49P1)
03
Biological functions
Acts as a pseudogene—typically considered non-functional in protein codingMay participate in regulation of coding genes through competing for regulatory RNAs, acting as a miRNA “decoy”, or being processed into short interfering RNAs (siRNAs) that modulate gene expression; these are general possible roles for pseudogenes, not specifically verified for C3orf49P1
04
Disease associations
None specific. C3orf49P1 is not implicated in any disease; however, the related protein-coding gene C3orf49 has been associated with Spinocerebellar Ataxia 36Pseudogenes, in general, may sometimes influence disease processes via their regulatory roles
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