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C15orf62, chromosome 15 open reading frame 62, is a human protein-coding gene a molecular weight of 19679 Da.
Gene
The human C15orf62 gene spans 2,470 base pairs, is located on cytogenetic band 15q15.1, and is oriented on the plus strand.The human C15orf62 gene contains a single exons and transcribes a protein-coding mRNA that encodes a 175 amino acid protein.
Protein
Human C15orf62 encodes a single protein, with just a singular isoform. The protein is predicted to be involved in Rho protein signal transduction; positive regulation of cellular component biogenesis; and regulation of cell shape.
Expression & Regulation
C15orf62 mRNA is widely expressed across tissues, with notably higher expression in the esophagus and skin, and moderate expression in tissues including the salivary glands, tonsils, and vagina.
Cellular Localization
The C15orf62 gene is localized in the mitochondria based on a 78.3% probability.
Interacting Proteins
Human NEDD4 interacts with human C15orf62. NEDD4, or neural precursor cell expressed, developmentally down-regulated 4, is an E3 ubiquitin-protein ligase involved in the regulation of various cellular processes, including signal transduction, cell differentiation, and apoptosis.
Homology
Orthologs
The C15orf62 gene has many orthologs but is only found in vertebrates. The most divergent species studied so far are within the class Chondrichthyes (cartilaginous fish), such as the horn shark (Heterodontus francisci), which diverged approximately 462 million years ago (MYA).
The gene is present across mammals, birds, reptiles, and amphibians, though its sequence similarity and identity to the human ortholog vary significantly. For example, reptiles such as the Pinta Island tortoise (Chelonoidis abingdonii) and the loggerhead sea turtle (Caretta caretta) exhibit around 40% sequence identity and over 60% similarity. However, amphibians like the tiny Cayenne caecilian (Microcaecilia unicolor) and the two-lined caecilian (Rhinatrema bivittatum) have even more divergent sequences, with identity dropping as low as 26-28%.
This pattern suggests that while C15orf62 is well-conserved within the vertebrate lineage, its function may have diverged or adapted significantly across different classes, especially in more evolutionarily distant groups such as amphibians and sharks.
Paralogs
C15orf62 has no paralogs as can be determined by a BLAST run on NCBI Protein using the human C15orf62 sequence against the non-redundant database. The lack of significant results indicated that the gene has no duplications within the species.
Clinical Significance
C15orf62 has been identified has a methylene driven gene in thyroid cancer. Hypomethylation causes gene over-expression, and hypermethylation leads to low gene expression, both key factors in tumor development. C15orf62 has also been linked to breast cancer susceptibility performing a role mitochondrial ribosomal biogenesis, assembling mitochondrial ribosomes.
References
- "C15orf62 chromosome 15 open reading frame 62 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2024-09-20.
- "C15orf62 Gene - Chromosome 15 Open Reading Frame 62". GeneCards. Oct 1, 2024. Retrieved 12/4/2024.
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(help) - "The Human Protein Atlas". www.proteinatlas.org. Retrieved 2024-12-05.
- "PSORT II Prediction". psort.hgc.jp. Retrieved 2024-12-05.
- "BioGRID | Database of Protein, Chemical, and Genetic Interactions". thebiogrid.org. Retrieved 2024-12-05.
- Chen, Zhiwei; Liu, Xiaoli; Liu, Fangfang; Zhang, Guolie; Tu, Haijian; Lin, Wei; Lin, Haifeng (2021-08-29). "Identification of 4-methylation driven genes based prognostic signature in thyroid cancer: an integrative analysis based on the methylmix algorithm". Aging (Albany NY). 13 (16): 20164–20178. doi:10.18632/aging.203338. ISSN 1945-4589. PMC 8436924. PMID 34456184.
- Podder, Bristy Rani; Kheya, Ilora Shabnam; Elias, Sabrina Moriom (2024-02-01). "Breast cancer risk SNPs and associated expression QTLs focusing Bangladeshi population: An in silico analysis". Human Gene. 39: 201270. doi:10.1016/j.humgen.2024.201270. ISSN 2773-0441.