The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding.
Spinal muscular atrophy (SMA) is caused by mutations in the SMN (survival of motor neurons) gene and there is a correlation between disease severity and levels of functional SMN protein. Studies of structure-function relationships in SMN protein may lead to a better understanding of SMA pathogenesis. Self-association of the spinal muscular atrophy protein, SMN, is important for its function in RNA splicing. Biomolecular interaction analysis core analysis now shows that SMN self-association occurs via SMN regions encoded by exons 2b and 6, that exon 2b encodes a binding site for SMN-interacting protein-1 and that interaction occurs between exon 2- and 4-encoded regions within the SMN monomer. The presence of two separate self-association sites suggests a novel mechanism by which linear oligomers or closed rings might be formed from SMN monomers.
Young
P J
PJ
MRIC Biochemistry Group, North East Wales Institute, Mold Road, Wrexham LL11 2AW, UK.
Man
N T
NT
Lorson
C L
CL
Le
T T
TT
Androphy
E J
EJ
Burghes
A H
AH
Morris
G E
GE
D000911:Antibodies, Monoclonal / Q000096:biosynthesis / Q000276:immunology; D001667:Binding, Competitive; D015374:Biosensing Techniques; D017362:Cyclic AMP Response Element-Binding Protein; D019281:Dimerization; D018604:Epitope Mapping; D005091:Exons / Q000235:genetics*; D018398:Homeodomain Proteins / Q000378:metabolism*; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000737:chemistry* / Q000235:genetics / Q000276:immunology / Q000378:metabolism*; D010446:Peptide Fragments / Q000378:metabolism; D011233:Precipitin Tests; D011485:Protein Binding; D017434:Protein Structure, Tertiary; D016601:RNA-Binding Proteins; D011993:Recombinant Fusion Proteins / Q000378:metabolism; D012097:Repressor Proteins / Q000378:metabolism*; D055532:SMN Complex Proteins; D000074165:Zinc Finger E-box Binding Homeobox 2
D000911:Antibodies, Monoclonal; D017362:Cyclic AMP Response Element-Binding Protein; D018398:Homeodomain Proteins; D009419:Nerve Tissue Proteins; D010446:Peptide Fragments; D016601:RNA-Binding Proteins; D011993:Recombinant Fusion Proteins; D012097:Repressor Proteins; D055532:SMN Complex Proteins; C492363:ZEB2 protein, human; D000074165:Zinc Finger E-box Binding Homeobox 2