Chromosome 3 open reading frame 14 is a gene of uncertain function located at 3p14.2 near fragile site FRBA3—which falls between this gene and the centromere [1]. It's protein is expected to localize to the nucleus and bind DNA. Homologs have been identified in all of the major animal groups, minus amphibians and insects  , tracing as far back as the sea anemone; indicating an origin of over 1000 mya, highlighting its importance in the animal genome. It is known by the aliases LOC57415, FLJ94553 and FLJ17473.

Protein Properties

The mRNA is composed of 6 exons is 832 bp and and encodes a 15007.84 kD protein known as HT021 [2]. This protein has a pre-modification pI of 5.57 and alpha helices span most of its length [2]. Four sites of possible phosphorylation have been identified. At least two sites of phosphorylation are conserved in all orthologs, as are two alpha helices. The protein protein is predicted to contain a coiled coil .

Expression

This gene was first identified in the hypothalamus-pituitary-adrenal axis (HPA axis) [3]. The GEO and EST profiles in NCBI indicate that its expression level varies form tissue to tissue; though its reported expressed is 1.2 times that of the average gene  . It has highest expression in the pancreas and nervous tissue (in humans). It is underexpression in many cancer cell line, however this may be due to its close proximity to the tumor suppressing gene FHIT, and the fragile cite FRBA3. Breakage at this site inactivates FHIT and can lead to the loss of c3orf14.

Function

Since c3orf14 is not ubiquitously expressed, it is most likely not a "housekeeping" gene and more likely plays an important role in the function for the tissues of highest expression. It seems likely that this gene is a transcription factor, which regulates the expression of other genes important for the function of tissues where HT021 is expressed highest.

References