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= C5orf49 = C5orf49 (Chromosome 5 Open Reading Frame 49) is a protein in Homo sapiens encoded by the C5orf49 gene. The gene is located at 5p15.31. Diseases associated with C5orf49 include Cone-Rod Dystrophy 18 and Weyers Acrofacial Dysostosis .The function of the gene has not yet been confirmed, however it has been found to show high levels of expression in cells of high differentiation, being expressed the highest in testis.

Protein Sequence
The sequence for C5orf49 isoform X1 in Homo sapiens, derived from NCBI: MEDDEEETTASTLRGKPRPPPVSAQSAFSYIPPRRLDPKEHSYYYRPARTGIISLYDCIFKRRLDYDQKLHRDDREHAKSLGLHVNEEEQERPVGVLTSSVYGKRINQPIEPLNRDFGRANHVQADFYRKNDIPSLKEPGFGHIAPS

Aliases

 * Uncharacterized Protein C5orf49
 * LOC134121

Isoforms
There is only 1 known isoform for the C5orf49 protein. '''Table 1. Known human protein isoform for C5orf49.'''

Orthologs
The C5orf49 gene was found in all species type including but not limited to Mammalia, Aves, Reptilia, Amphibia, Esociformes, Chondrichthyes, and Testudines. However, C11orf49 could not be found in Insecta or Plantae. There are no known paralogs of C5orf49. '''Table 2. List of selected orthologs of C5orf49.'''

Rate of Molecular Evolution
A rate of divergence can be calculated using the molecular clock hypothesis. As observed by the graph, C5orf49 has evolved at a faster rate than Cytochrome c but slower than Fibrinogen alpha. Therefore, C5orf49 is possibly evolving at a slower rate than most proteins.

Multiple Sequence Alignment
A multiple sequence alignment (MSA) was done between the top 20 closely related orthologs to the Homo sapiens C5orf49. 20 amino acids were discovered to be conserved among all 15 sequences at the beginning of the protein sequence; within the first three exons.

In a MSA between distantly related homologs, 5 amino acids were observed to be conserved between exons two and three.

Gene Localization in Humans
Both microarray expression patterns and RNA-Seq data show very high levels of expression in the brain. RNA-Seq data also shows high expression in testis, lung and spinal cord. Additional information for other tissues is included to the right of the page.

Transmembrane Domain
Though there is a presence of hydrophobic regions in the protein sequence, there have been no confirmed transmembrane domains present.

Phosphorylation
A protein kinase C phosphorylation site is predicted at amino acid 12-14 and 135-137. There is also a possible CK2 phosphorylation site at amino acid 54-57 and 135-138. '''Table 3. List of possible Phosphorylation Sites'''

=== SUMOylation === '''Table 4. List of SUMOylation'''

Function
Through the level of expression in various tissue samples, the C5orf49 protein is a regulated gene rather than a constitutive gene. Based on the origin of epithelial cells, their presence in the kidney or lung suggests C5orf49 playing a role in aiding the body with a weakened immune system.

Additionally, the phenotypes of the gene indicates that it would have functions related to adolescent idiopathic scoliosis, attention deficit hyperactivity disorder, and bipolar disorder. Also, it has a response to antineoplastic agent, meaning that it could used to study potential cancer treatments.