FAM71D


FAM71D, also known as chromosome 14 open reading frame 54, is a protein that in humans is encoded by the FAM71D gene on Chromosome 14. Orthologs of FAM71D reach as far back in evolution to Reptiles, however, it is closer in homology to primates than any other orthologs. FAM71D has 6 paralogs: FAM71A, FAM71B, FAM71C, FAM71E1, FAM71F1, and FAM71F2 which encode a protein of unknown function.

Gene

In humans, FAM71D is located at 14q23.3 and stretches between positions 67189393 and 67228550. It codes for at least 10 unique human protein isoforms: the primary isoform, isoform X2, isoform X3, isoform X4, isoform X5, isoform X6, isoform X7, isoform X8, isoform X9, isoform X10 In humans, FAM71D codes for an mRNA strand that is 1790 base pairs long. The human mRNA is composed of a 5' untranslated region that is 290 bases long and a 3' untranslated region that is 231 bases long The gene has the following neighbours on the same chromosome:

Protein

The primary protein encoded by FAM71D in humans is 422 amino acids long with a molecular weight of 47076 Da. The protein is part of a functionally uncharacterized family of proteins with a domain of unknown function DUF3699.

Structure

Several tools are available to predict the secondary structure of a protein. One tool that combines the results of few of them is PELE on SDSC Biology WorkBench. According to this tool, the protein's secondary structure is mostly alpha helices, beta stands and coiled-coiled domains.

Post translational modifications

Like any other protein, this protein undergoes post-translational modifications. FAM71D is predicted to contain 2 nuclear export signals, and lacks both a signal peptide and transmembrane domains.

Interactions

FAM71D interacts with PGK2, TUBA3C, and HSPB1. FAM71D is also predicted to interact with the following proteins using STRING:

Expression

FAM71D is primarily expressed in the testis of humans only expressed during the adult developmental stage. GEO microarray data also supports the expression of FAM71D in humans

Clinical relevance

No studies have directly associated FAM71D protein with certain diseases. However, using NCBI GEO Profiles, FAM71D was found to be over-expressed in patients with unruptured intracranial aneurysms.