C11orf1 (Chromosome 11 Open Reading Frame 1) is a gene located on human chromosome 11. It is also officially known by its approved gene symbol TMEM247 (Transmembrane Protein 247), which describes its protein product.
Gene Nomenclature: The "C11orf1" designation indicates that it was initially identified as an open reading frame (a sequence of DNA that could potentially be translated into a protein) on chromosome 11, and was the first such uncharacterized open reading frame cataloged in a specific region or database at the time of its initial annotation. As research progresses, these "orf" genes are often given more descriptive symbols, such as TMEM247 in this case, once their protein product or preliminary function is identified.
Location: The C11orf1 gene is located on the long arm (q) of human chromosome 11, at position 11q13.1.
Function: C11orf1 is a protein-coding gene. Its encoded protein, Transmembrane Protein 247, is an integral membrane protein, meaning it is embedded within or spans a cell membrane. While the precise and comprehensive physiological functions of TMEM247 are still an active area of research, transmembrane proteins are generally involved in a wide array of cellular processes, including:
- Cell signaling
- Ion transport
- Molecular adhesion
- Membrane organization
- Enzymatic activity at the membrane surface
Research efforts continue to delineate its specific role in cellular pathways and potential implications in health and disease.
Aliases:
- TMEM247 (Transmembrane Protein 247)