HBA1 and α-thalassemia
This page was produced as an assignment for Genetics 677, an undergraduate course at UW-Madison.

Domains

Picture
The HBA1 protein contains a globin domain [1].
Three-dimensional hemoglobin molecule from Pfam, showing four globin domains.

After entering the protein sequence into SMART, I received the result: "No domains, repeats, motifs or features could be predicted with confidence." [2]

Globins are a family of proteins that may contain heme, required for oxygen transport and storage in animals [1].  They are small, globular proteins, generally between 130 and 160 amino acids in length [1,4].  They are found in all kingdoms of life - in 25% of all known species of archaea, 65% of bacteria, and over 90% of eukarya.  However, the use of globins as oxygen carriers is seen only in metazoans, where multiple globin chains are joined into more complex molecules (i.e. hemoglobin).  In archaea and bacteria, they have enzymatic and sensory functions. [3]

The most globins present in one species are seen in C. elegans, which have 33 globin proteins [3].  These globins are expressed in the body wall and cuticle, but their functions are currently unknown [4].

Humans and other vertebrates have complex globin multimers found in different tissues: hemoglobins transport oxygen through the bl
ood stream, via red blood cells; myglobins facilitate oxygen transport in muscle; and neuroglobins have a role in oxygen availability in the brain [5].



References
  1. The Pfam protein families database: R.D. Finn, J. Mistry, J. Tate, P. Coggill, A. Heger, J.E. Pollington, O.L. Gavin, P. Gunesekaran, G. Ceric, K. Forslund, L. Holm, E.L. Sonnhammer, S.R. Eddy, A. Bateman. Nucleic Acids Research (2010)  Database Issue 38:D211-222. (PubMed)
  2. SMART, a simple modular architecture research tool: Identification of signaling domains.  Schultz, J., Milpetz, F., Bork, P. & Ponting, C.P. PNAS 1998; 95: 5857-5864. (PubMed)
  3. A phylogenomic profile of globins. Vinogradov SN, Hoogewijs D, Bailly X, Arredondo-Peter R, Gough J, Dewilde S, Moens L, Vanfleteren JR. BMC Evol Biol. 2006 Apr 7;6:31. (PubMed)
  4. The Caenorhabditis globin gene family reveals extensive nematode-specific radiation and diversification. Hoogewijs D, De Henau S, Dewilde S, Moens L, Couvreur M, Borgonie G, Vinogradov SN, Roy SW, Vanfleteren JR. BMC Evol Biol. 2008 Oct 9;8:279. (PubMed)
  5. A vertebrate globin expressed in the brain. Burmester T, Weich B, Reinhardt S, Hankeln T. Nature. 2000 Sep 28;407(6803):520-3. (PubMed)