This web page was produced as an assignment for Genetics 677 an undergraduate course at UW-Madison
What is a Protein?
Fig.1. This illustrates the four structural levels that a protein can have.
Proteins are small molecules within the body that perform a variety of functions. The genes within the body act as blue prints for these proteins. The first step in making a protein is taking the genetic code and translating it into a sequence of amino acids. This string of amino acids is known as the primary structure of a protein. Next, this string of amino acids interacts with itself and forms hydrogen bonds between certain amino acids. This gives certain segments along the string of amino acids a tertiary structure. The protein then compacts and forms a compacted three-dimensional structure. This protein can interact with others to form a multi-protein complex that is three-dimensional. This is the quaternary structure of the protein. These four levels of structure are used to classify the protein and can further be used to predict the function of the protein.
The BBS1 Protein
Fig 3: This is the protein structure of BBS1 protein.
The BBS1 gene in humans codes for a protein that is important for the making of the primary cilia. The primary cilia are important for a variety of different things within us such as the development of our eyes, kidneys, and digits. A mutation within this gene causes this protein to become dysfunctional and therefore the primary cilia are defectively made. This protein has been identified in a variety of different organisms and functions similarly in them.
This protein interacts with six other BBS proteins to form a complex called the BBSome [1]. This protein complex is important in a variety of functions for the primary cilia. One part it is important in specifically is the trafficking of membrane proteins to the cilia [1]. Another aspect is that it functions in certain signaling pathways such as Hedgehog signaling [2]. These signaling pathways are important in embryo development and therefore a dysfunction in the BBSome can affect this. Finally, this complex functions in the intraflagellar transport system which is important for all those functions listed above. The extent to which it functions in this pathway is still questioned but it is known to play a role in this pathway and is important for the correct functioning of it.
This protein interacts with six other BBS proteins to form a complex called the BBSome [1]. This protein complex is important in a variety of functions for the primary cilia. One part it is important in specifically is the trafficking of membrane proteins to the cilia [1]. Another aspect is that it functions in certain signaling pathways such as Hedgehog signaling [2]. These signaling pathways are important in embryo development and therefore a dysfunction in the BBSome can affect this. Finally, this complex functions in the intraflagellar transport system which is important for all those functions listed above. The extent to which it functions in this pathway is still questioned but it is known to play a role in this pathway and is important for the correct functioning of it.
Human Bardet-Biedl Syndrome 1 Protein General Information
References:
[Banner Photo]"NDM-1" NDM-1. Retrieved 12 March 2013 from http://www.personal.psu.edu/czc5161/blogs/testing/references.html.
[1] Hua Jin, Susan Roehl White, Toshinobu Shida, Stefan Schulz, Mike Aguiar, Steven P. Gygi, J. Fernando Bazan, and Maxence V. Nachury. (2010). The Conserved Bardet-Biedl Syndrome Proteins Assemble a Coat That Traffics Membrane Proteins to Cilia. Cell, 141, 1208-19. doi: 10.1016/j.cell.2010.05.015.
[2] Norann A. Zaghloul and Nicholas Katsanis. (2009). Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. The Journal of Clinical Investigation, 119(3), 428-437. doi:10.1172/JCI37041
[Banner Photo]"NDM-1" NDM-1. Retrieved 12 March 2013 from http://www.personal.psu.edu/czc5161/blogs/testing/references.html.
[1] Hua Jin, Susan Roehl White, Toshinobu Shida, Stefan Schulz, Mike Aguiar, Steven P. Gygi, J. Fernando Bazan, and Maxence V. Nachury. (2010). The Conserved Bardet-Biedl Syndrome Proteins Assemble a Coat That Traffics Membrane Proteins to Cilia. Cell, 141, 1208-19. doi: 10.1016/j.cell.2010.05.015.
[2] Norann A. Zaghloul and Nicholas Katsanis. (2009). Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. The Journal of Clinical Investigation, 119(3), 428-437. doi:10.1172/JCI37041