User:Huaijin2002

C1orf216
UPF0500 is a 229 amino acids long protein that in humans is encoded by the C1orf216 gene. C1orf216 is at GRCh38 minus strand. C1orf216 encodes a protein called UPF0500, which is 229 amino acids long. The longest possible mRNA transcripted from C1orf216 is 2891 bp long, containing a 2 of 3 exons in total. UPF0500 has a domain of unknown function DUF4653.

Overall expression in tissues
C1orf216 shows a much higher expression in the brain than any other tissues. This not only includes adult brain, but also covers fetal brain (figure 1). Such expression is consistent with some findings that C1orf216 is probably related to neurodegenrative diseases.

Expression changes under Rett Syndrome
C1orf216 is thought to be related to Rett Syndrome. As seen in figure 2, patients that are suffering from Rett Syndrome have a higher expression of C1orf216.

Subcellular localization
Combining the result from the immunofluorence imgae in Hela cells and prediction from Deeploc, C1orf216 is in the nuclues and cytoplasma.

Structure
The gene structure predicted by Alpha Fold and Phyre 2 are quite similar. It seems that the result of Phyre 2 was only an incomplete part of the outcome of Alpha fold.

Homology and Evolution
The orthologs of C1orf216 was found in all verterbrates, but not in any inverterbrates. The most distant ortholog is found in cartilaginous fishes. It seems that C1orf216 is evolving fast, since it has a steep slope on the evolutionary graph(figure 3). No paralogs was found in humans.

Interactions
C1orf216 interacts with multiple proteins. According to BioGRID, there are 72 interactors of C1orf216. A large number of these interactors are keratins. Among these interactors, there are 2 seem to be important due to their specifc functions in brain : CDR2 and CEP55. CDR 2, known as cerebellar degeneration related protein 2, can be related to nervous system and neurodegeneration diseases like Parkison's disease. CEP55, centrosomal protein 55, is considered to be an important role in neuroblastoma.

Clinical Significance
Overall, C1orf216 is a gene in brain that is related to nervous diseases. The reason is that C1orf216 has higher expression levels in Rett Syndrome, and it has interactors related to nerve functions.