8qo9
From Proteopedia
Cryo-EM structure of a human spliceosomal B complex protomer
Structural highlights
DiseaseSF3B4_HUMAN Defects in SF3B4 are the cause of acrofacial dysostosis type 1 (AFD1) [MIM:154400. AFD1 is a form of acrofacial dysostosis, a group of disorders which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial features of AFD1 include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hyoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb defects have also been reported.[1] FunctionSF3B4_HUMAN Subunit of the splicing factor SF3B required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the 'E' complex. SF3B4 has been found in complex 'B' and 'C' as well. Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron. References
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Categories: Homo sapiens | Large Structures | Dybkov O | Kumar V | Luehrmann R | Stark H | Urlaub H | Will CL | Zhang Z
