Proline-rich protein 30

The PRR30 gene is located on the short arm of human chromosome 2 at band 2p23.3. It flanked by Prolactin regulatory element binding (PREB) and Transcription Factor 23 (TCF23). The gene has three Exons in total. PRR30 has a length of 2618 base pairs of linear DNA.[6]

PRR30 Gene Neighborhood[7]

The PRR30 mRNA transcript is 2063 base pairs in length. There are four splice sites total all of which are in the 5’ UTR. There are no known isoforms or alternative splicing of PRR30.

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  PRR30 Splice Pattern

Human protein PRR30 consists of 412 amino acid residues. It has a molecular weight of 44.7 kdal and an isoelectric point of 10.7.[9][10] It is proline rich and composed primarily of non-essential amino acids. There is a region of extreme conservation across orthologs spanning from residues 187 to 321.[11] PRR30 appears to be subcellularly localized to the cell nucleus.[12] NetNES predicts a nuclear export signal from residues 213 to 216.[13] IntAct predicts that PRR30 interacts with Human Testis Protein 37 or TEX37, Cystiene Rich Tail Protein 1 (CYSRT1), and Keratin Associated Protein 6-2 (KRTAP6-2).[14] PRR30 is predicted to undergo post-translational modifications in the form of glycosylation and phosphorylation.[15][16][17]

Adapted Prosite figure showing domains, phosphorylation sites (red), glycosylation sites (grey), and nuclear export signal (green).[18]

I-Tasser predicted protein PRR30. Largely unstructured with minimal folding in highly conserved region.[19]

PRR30 is exclusive to mammals but is not present in all mammals. PRR30 is highly conserved across Primates but shows loss of the gene in members of Rodents and Laurasiatheria.[27] The most distant known ortholog of PRR30 is found in S. harrisii, Tasmanian Devil. The PRR30 gene appears to be evolving relatively fast rate.[28]

Comparison of evolutionary histories between Cytochrome C (grey), Fibrinogen (orange), and PRR30 (blue).[29]

From a study on Neurofibromatosis, this graph shows that patients afflicted with Neurofibromatosis Type 1 are likely to have an extra copy of C2orf53.[32]

In recent 2015 study, copy number variation of PRR30 gene was linked to an increase risk for neurofibromatosis. 78% of the patients displaying type 1-associated cutaneous neurofibromas carried an extra copy of the PRR30 gene. No mechanism was described illuminating the correlation.[32]