FAM131A
Description
The FAM131A (family with sequence similarity 131 member A) is a protein-coding gene located on chromosome 3.
FAM131A (Family with Sequence Similarity 131 Member A) is a protein encoded by the FAM131A gene in humans. Other names for FAM131A include C3orf40, FLAT715, and PRO1378.
The FAM131A gene is found on chromosome 3 (3q27.1) and spans 7,847 base pairs. It produces an mRNA sequence of 2,437 nucleotides. FAM131A is most highly expressed in the brain, with a low tissue specificity.
The FAM131A protein in humans is 366 amino acids in length, with a theoretical molecular weight of 39.5 kDa and a theoretical isoelectric point of 4.59. There have only been two isoforms found for the protein this gene encodes in humans, and isoform two is shorter at the N-terminus than isoform one due to amino acids 1-85 being absent in isoform two. It was also determined that Asparagine, Threonine, and Isoleucine are represented less in the FAM131A protein in comparison to most human proteins. However, Serine is more highly represented in the FAM131A protein in comparison to most human proteins. The FAM131A protein is predicted to be contained within the nucleus and in the nucleolus, and is predicted to be primarily localized to the nucleoli rim within the cell.
FAM131A is also known as C3orf40, FLAT715, PRO1378.
Associated Diseases
- familial hyperaldosteronism type II
- juvenile myoclonic epilepsy
- leukoencephalopathy with mild cerebellar ataxia and white matter edema
