What are protein domains?
Protein domains are the functional parts of the protein. This function is typically associated with the overall role of the protein. Domains can have similar or different functions in the same gene. ABCD1 is an example where both domains are responsible for a similar function [1].
ABCD1 Domain
ABC_membrane_2 and ABC_trans are responsible in transporting items in and out of membranes.
Discussion: The gene consists of two parts: ABC_membrane_2 and ABC_trans. Most mammals and model organisms have the gene ABCD1 conserved in their genome. Elephant shark was the only outlier seen. There was a whole transporter section missing from its genome. This could mean that the abc membrane could be vital to transporter function.
ABC_membrane_2: mutations in this domain are responsible for Zellwelger sydrome [2].
ABC_trans: this portion of the domain is responsible for the translocation of compounds across membranes [3].
ABC_membrane_2: mutations in this domain are responsible for Zellwelger sydrome [2].
ABC_trans: this portion of the domain is responsible for the translocation of compounds across membranes [3].
References
[1] What are protein domains? (2016, July 20). Retrieved from https://www.ebi.ac.uk/training/online/course/introduction-protein-classification-ebi/protein-classification/what-are-protein-domains
[2] CDD Conserved Protein Domain Family: ABC_membrane_2. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/Structure/cdd/PF06472
[3] Family: ABC_tran (PF00005). (n.d.). Retrieved from http://pfam.xfam.org/family/pf00005
[2] CDD Conserved Protein Domain Family: ABC_membrane_2. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/Structure/cdd/PF06472
[3] Family: ABC_tran (PF00005). (n.d.). Retrieved from http://pfam.xfam.org/family/pf00005