Splicing factor 3B subunit 4 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
that in humans is encoded by the ''SF3B4''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
Function
This gene encodes one of four subunits of the splicing factor 3B. The protein encoded by this gene cross-links to a region in the pre-mRNA immediately upstream of the branchpoint sequence in pre-mRNA in the prespliceosomal complex A. It also may be involved in the assembly of the B, C and E spliceosomal complexes. In addition to RNA-binding activity, this protein interacts directly and highly specifically with subunit 2 of the splicing factor 3B. This protein contains two N-terminal RNA-recognition motifs (RRMs), consistent with the observation that it binds directly to pre-mRNA.
Disease associations
In 2012, Canadian researchers belonging to the FORGE (Finding of Rare disease GEnes) consortium identified new dominant mutations in ''SF3B4'' as the cause of
Nager syndrome
Nager acrofacial dysostosis, also known as Nager syndrome, is a genetic disorder which displays several or all of the following characteristics: Micrognathism, underdevelopment of the cheek and jaw area, down-sloping of the opening of the human eye ...
, a rare type of mandibulofacial dysostosis with associated limb malformations.
Interactions
SF3B4 has been shown to
interact
Advocates for Informed Choice, doing business as, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex trai ...
with
CDC5L
Cell division cycle 5-like protein is a protein that in humans is encoded by the ''CDC5L'' gene.
Function
The protein encoded by this gene shares a significant similarity with ''Schizosaccharomyces pombe'' cdc5 gene product, which is a cell c ...
,
BMPR1A
The bone morphogenetic protein receptor, type IA also known as BMPR1A is a protein which in humans is encoded by the ''BMPR1A'' gene. BMPR1A has also been designated as CD292 (cluster of differentiation 292).
Function
The bone morphogenetic pr ...
and
SF3B2.
References
Further reading
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
External links
*
*
{{gene-1-stub