C1orf131

Uncharacterized protein C1orf131 is a protein that in humans is encoded by the gene C1orf131 or chromosome 1 open reading frame 131.

Gene

In humans C1orf131 is located on the minus strand of chromosome 1 and on the cytogenetic band 1q42.2 along with 193 other genes.^[1] Notably, the gene upstream of C1orf131 is GNPAT, and the gene downstream of C1orf131 is TRIM 67. When this gene is transcribed in humans, it most often forms an mRNA of 1458 base pairs long which codes for seven exons. There are at least seven alternatively spliced mRNAs ranging from 129 base pairs to 1458 base pairs.^[2]

Protein

The protein coded by this gene is 293 amino acids long, weighs 32.6 kDa, has an isoelectric point of 10.3,^[3] and a charge of 23.0.^[4] It has a poly(A) RNA binding site identified,^[4] and it also has a domain of unknown function (DUF) 4602. Some post-translational modifications have been identified. Residues S73^[5] , S78^[5] , S86,^[5][6] T163,^[7] S207,^[6] and S279,^[5][8] have been proven to be phosphorylated, and residue K185 is acetylated.^[9]

Some interesting characteristics of this protein is that compared to the rest of the human proteome it is rich in lysines, charged amino acids,and basic charged amino acids.^[10] The secondary structure of this protein primarily consists of alpha helices and coils with a small percentage of strands.^[11] This protein has been shown to be an intrinsically disordered protein in addition it has areas of low complexity and turns or loops.^[12] This protein has also been identified to have a coiled coil and nuclear localization sequence.

There are 58 noted polymorphisms. The most common is from leucine to valine at position 28. Despite these 58 possible polymorphisms, none of them have been linked to a disease yet.^[13]

It has been shown to interact with ubiquitin^[14] through affinity capture followed by mass spectrometry and APP (amyloid beta (A4) precursor protein)^[15] through reconstituted complex.

History

There have been a couple of pseudogenes of the gene found in orangutan, mouse lemur, and sloth. There is no paralog found in humans; however, 151 homologues exist as far back as invertebrates. This gene has a domain of unknown function that is 31.5% conserved between the human homolog and Bactrocera cucurbitae (melon fly). It is a comparably fast evolving gene in comparison to Cytochrome C, a slow evolving gene, and Fibrinogen gamma chain, a fast evolving gene. Additionally, are no paralogs or pseudogenes found in the human genome of this gene.

References