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In silico investigation of the ATP7B protein: insights from the role of RCCs mutation that effect on protein structure and function

Abdolrasoul Malekpour, Dr1, Saeid Gholamzadeh1, Saeideh Zahedi1, Mojtaba Mortazavi, Dr2. 1Legal Medicine Research Center, Legal Medicine Organization of Iran, Tehran, Iran, 2Department of Biotechnology, Institute of Science and High Technology and Environmental Science, Graduate University of Advanced Technology, Kerman, Iran

Background: Wilson’s disease is a rare autosomal recessive genetic disorder of copper metabolism, which is characterized by hepatic and neurological disease. The gene ATP7B (on chromosome 13) leads to Wilson’s disease is highly expressed in the liver, kidney, and placenta and encodes a transmembrane protein ATPase (ATP7B), which functions as a copper-dependent P-type ATPase.

Methods: Here, the rare codons of ATP7B gene and their location in the structure of ATP7B protein was studied with Rare codon calculator (RaCC) (http://nihserver.mbi.ucla.edu/RACC/), ATGme (http://atgme.org/), LaTcOm (http://structure.biol.ucy.ac.cy/latcom.html) and Sherlocc program (http://bcb.med.usherbrooke.ca/sherlocc.php). RaCC server identified Arg, Leu, Ile, and Pro codons as rare codons.

Results: Results showed that CYP152A1 gene have 35 single rare codons of Arg. Additionally, RaCC detected two rare codons of Leu, 13 single rare codons of Ile and 28 rare codon of Pro. ATP7B gene analysis in minmax and sliding_window algorithm resulted in identification of 16 and 17 rare codon clusters, which shows the difference features of these algorithms in detection of RCC. Analyzing the 3D model of ATP7B protein show that Arg816 residue constitute hydrogen bonds with Glu810 and Glu816 that with mutation of this residue to Ser816 this hydrogen bonds were disrupted and may interfere in the proper folding of this protein. Moreover, the side chain of Arg1228 don’t forms any bond with others residues that with mutation to Thr1228 form new hydrogen bond with the side chain of Arg1228. These addition and deletion of hydrogen bonds effects on the folding mechanism of ATP7B protein and interfere with the proper function of the ATP7B position. His1069 forms the hydrogen bonds with the His880 and it seems that this hydrogen bond close together two region of this protein and it seems that has a critical role in the final folding of ATP7B protein.

Conclusions: Computational study of diseases such as Wilson’s disease and involved genes (ATP7B) help us in understanding of disease’s physiopathology and finding new approaches for detection and treatment.


Presented at the SAGES 2017 Annual Meeting in Houston, TX.

Abstract ID: 84823

Program Number: P522

Presentation Session: iPoster Session (Non CME)

Presentation Type: Poster

54

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