Human BCL-2, isoform 1 is an oncoprotein of 239 residues regulating cell death (apoptosis), notably acting as an anti-apoptotic. It is encoded by the BCL2 gene located on the 18th chromosome (63.12-63.32 Mb). There are 2 isoforms of this protein (𝛼 and 𝛽), produced by alternative splicing, and which differ by 2 aminoacids (residues 96 (A←→T) and 110 (R←→G))(ref). Alteration of this protein is a caused of many cancers, and is also likely to be involved in schyzophrenia and autoimmunity.
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Primary & Secondary Structure
Human BCL-2, isoform 1 is a 26kDa protein of 239 residues. The linear structure highlights 5 domains: BH4 (10-30), BH3 (93-107), BH1 (136-155), BH2 (187-202) and a transmembrane domain (218-239). It organizes as eight alpha-helices: from 11 to 25 (1) , from 93 to 107 (2), from 109 to 118 (3), from 126 to 137 (4), from 144-163 (5), from 169 to 184 (6), from 186 to 191 (7) and from 194 to 202(8). There are also 3 turns (32-34, 123-125, 138-140). The 3rd alpha-helix is a 3(10) helix, whereas BCL-XL 3rd helix is a normal alpha-helix.
Function
Disease
Relevance
Structural highlights
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