C21orf59

C21orf59 is a is_associated_with::protein of unknown function. It is of interest in part for its association with various diseases. It has been found in high levels in the bone marrow of patients with a negative prognosis of is_associated_with::acute myeloid leukemia and an abnormal is_associated_with::karyotype. Male is_associated_with::Alzheimer's patients have shown a decrease in expression of C21orf59 in their blood cells. The C21orf59 gene lies within the critical region of is_associated_with::Down Syndrome. There are no clear is_associated_with::paralogs in humans, but the gene has homologues widely conserved among is_associated_with::animals, is_associated_with::fungi, and is_associated_with::algae.

Gene
C21orf59 is a is_associated_with::gene found on the is_associated_with::21st chromosome at 21q22.1. A total of thirteen is_associated_with::splice variants have been found, but only eleven protein coding ones. The most common form of C21orf59 is_associated_with::mRNA has 1427 base pairs broken into seven is_associated_with::exons. Its closest neighbors on the chromosome are is_associated_with::TCP10L, is_associated_with::FAM176C, LOC100506185, is_associated_with::OR7E23P, and SYNJ1.

Gene Expression
The C21orf59 primary sequence is found in high quantity in most tissues. Some tissues with notable less expression are the is_associated_with::ganglions, the is_associated_with::heart, and the is_associated_with::liver. It is suspected C21orf59 is found in the is_associated_with::brain early in development due to the two is_associated_with::achaete-scute complex homologue transcription factor binding sites found in the promoter.

Protein
The C21orf59 primary sequence consists of 290 amino acids with mass 33.093 kDa. The isoelectric point is 7.283, but is reduced to 5.86 if fully phosphorylated. Several is_associated_with::post-translational modifications have been found by mass spectroscopy: five phosphorylation sites, one is_associated_with::methylation site, one is_associated_with::ubiquitination site, and one is_associated_with::acetylation site. Most of these modifications happen in the latter half of the protein.

Structure
The majority of the protein consists of the domain DUF2870. This domain is primarily found in homologues of C21orf59, but also in other uncharacterized proteins, and it contains the majority of the sites that are modified after translation. The protein is predicted to consist mostly of is_associated_with::alpha helices and lack is_associated_with::beta strands.

Localization
C21orf59 has been shown to localize to the is_associated_with::cytosol and the nucleus, but has been predicted, albeit with less strength, to localize to the is_associated_with::cytoskeleton, is_associated_with::peroxisome, and the is_associated_with::mitochondria.

Interactions
Through is_associated_with::mass spectrometry, interactions with is_associated_with::SUMO2, a post-translational modification protein resembling is_associated_with::ubiquitin, and is_associated_with::Ubiquitin C have been identified. Through is_associated_with::two-hybrid experiments, an interaction with is_associated_with::MAPK6, a protein is_associated_with::kinase, has been found.

Recent Studies
A study in zebrafish has shown C21orf59 is found in high concentrations in the Kupffer vesicles, and is intracellularly localized to the basal body of the cilia. Zebrafish mutant in C21orf59 homologue have less functional cilia and distorted right/left symmetry, suggesting the role of c21orf59 is important in developing a normal body shape.