Finding a gene associated with a phenotype
Phenylketonuria is a genetic disorder caused by an inability to metabolise phenylalanine in any body tissue. This results in an accumulation of phenylalanine causing seizures and intellectual disability.
(a) Search for phenylketonuria from the Ensembl homepage and narrow down your search to only genes. What gene is associated with this disorder?
(b) How many protein coding transcripts does this gene have? View all of these in the transcript comparison view.
(c) What is the MIM gene identifier for this gene?
(d) Go to the MANE Select transcript and look at its 3D structure. In the model 2pah, how many protein molecules can you see?
(a) Start at the Ensembl homepage (http://www.ensembl.org).
Type phenylketonuria into the search box then click Go. Choose Gene from the left hand menu.
The gene associated with this disorder is PAH, phenylalanine hydroxylase, ENSG00000171759.
(b) If the transcript table is hidden, click on Show transcript table to see it.
There are six protein coding transcripts.
Click on Transcript comparison in the left hand menu. Click on Select transcripts. Either select all the transcripts labelled protein coding one-by-one, or click on the drop down and select Protein coding. Close the menu.
(c) Click on External references.
The MIM gene ID is 612349.
(d) Open the transcript table and click on the ID for the MANE Select: ENST00000553106.6. Go to PDB 3D protein model in the left-hand menu.
The model 2pah is shown by default. It has two protein molecules in it. You may need to rotate the model to see this clearly.
