SF3B4

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Splicing factor 3b, subunit 4, 49kDa
Protein SF3B4 PDB 1x5t.png
PDB rendering based on 1x5t.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols SF3B4 ; AFD1; Hsh49; SAP49; SF3b49
External IDs OMIM605593 MGI109580 HomoloGene22334 GeneCards: SF3B4 Gene
RNA expression pattern
PBB GE SF3B4 209044 x at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 10262 107701
Ensembl ENSG00000143368 ENSMUSG00000068856
UniProt Q15427 Q8QZY9
RefSeq (mRNA) NM_005850 NM_153053
RefSeq (protein) NP_005841 NP_694693
Location (UCSC) Chr 1:
149.9 – 149.9 Mb
Chr 3:
96.17 – 96.18 Mb
PubMed search [1] [2]

Splicing factor 3B subunit 4 is a protein that in humans is encoded by the SF3B4 gene.[1][2]

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.[2]

Disease Associations[edit]

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, a rare type of mandibulofacial dysostosis with associated limb malformations.[3]

Interactions[edit]

SF3B4 has been shown to interact with CDC5L,[4] BMPR1A[5] and SF3B2.[1][6]

References[edit]

  1. ^ a b Champion-Arnaud P, Reed R (December 1994). "The prespliceosome components SAP 49 and SAP 145 interact in a complex implicated in tethering U2 snRNP to the branch site". Genes Dev 8 (16): 1974–83. doi:10.1101/gad.8.16.1974. PMID 7958871. 
  2. ^ a b "Entrez Gene: SF3B4 splicing factor 3b, subunit 4, 49kDa". 
  3. ^ Bernier, FP; Caluseriu, O, Ng, S, Schwartzentruber, J, Buckingham, KJ, Innes, AM, Jabs, EW, Innis, JW, Schuette, JL, Gorski, JL, Byers, PH, Andelfinger, G, Siu, V, Lauzon, J, Fernandez, BA, McMillin, M, Scott, RH, Racher, H, FORGE Canada, Consortium, Majewski, J, Nickerson, DA, Shendure, J, Bamshad, MJ, Parboosingh, JS (2012-04-26). "Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome.". American Journal of Human Genetics 90 (5): 925–33. doi:10.1016/j.ajhg.2012.04.004. PMID 22541558. 
  4. ^ Ajuh, P; Kuster B, Panov K, Zomerdijk J C, Mann M, Lamond A I (December 2000). "Functional analysis of the human CDC5L complex and identification of its components by mass spectrometry". EMBO J. (ENGLAND) 19 (23): 6569–81. doi:10.1093/emboj/19.23.6569. ISSN 0261-4189. PMC 305846. PMID 11101529. 
  5. ^ Nishanian, Tagvor G; Waldman Todd (October 2004). "Interaction of the BMPR-IA tumor suppressor with a developmentally relevant splicing factor". Biochem. Biophys. Res. Commun. (United States) 323 (1): 91–7. doi:10.1016/j.bbrc.2004.08.060. ISSN 0006-291X. PMID 15351706. 
  6. ^ Rual, Jean-François; Venkatesan Kavitha, Hao Tong, Hirozane-Kishikawa Tomoko, Dricot Amélie, Li Ning, Berriz Gabriel F, Gibbons Francis D, Dreze Matija, Ayivi-Guedehoussou Nono, Klitgord Niels, Simon Christophe, Boxem Mike, Milstein Stuart, Rosenberg Jennifer, Goldberg Debra S, Zhang Lan V, Wong Sharyl L, Franklin Giovanni, Li Siming, Albala Joanna S, Lim Janghoo, Fraughton Carlene, Llamosas Estelle, Cevik Sebiha, Bex Camille, Lamesch Philippe, Sikorski Robert S, Vandenhaute Jean, Zoghbi Huda Y, Smolyar Alex, Bosak Stephanie, Sequerra Reynaldo, Doucette-Stamm Lynn, Cusick Michael E, Hill David E, Roth Frederick P, Vidal Marc (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature (England) 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514. 

Further reading[edit]

External links[edit]