SF3B4

SF3B4
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1X5T, 1X5U
Identifiers
Aliases	SF3B4 , AFD1, Hsh49, SAP49, SF3b49, splicing factor 3b subunit 4
External IDs	OMIM: 605593; MGI: 109580; HomoloGene: 134086; GeneCards: SF3B4; OMA:SF3B4 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1q21.2 Start 149,923,317 bp [1] End 149,927,803 bp [1]
Gene location (Mouse) Chr. Chromosome 3 (mouse) [2] Band 3|3 F2.1 Start 96,079,648 bp [2] End 96,084,880 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of transverse colon granulocyte left uterine tube left testis right testis popliteal artery tibial arteries monocyte right coronary artery olfactory zone of nasal mucosa Top expressed in tail of embryo genital tubercle epiblast neural tube embryo mesencephalon embryo yolk sac ventricular zone ganglionic eminence More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding nucleic acid binding RNA binding Cellular component U12-type spliceosomal complex nucleus nucleoplasm spliceosomal complex nucleolus U2-type precatalytic spliceosome ribonucleoprotein complex Biological process RNA splicing, via transesterification reactions mRNA splicing, via spliceosome positive regulation of mRNA splicing, via spliceosome mRNA processing RNA splicing Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10262 107701 Ensembl ENSG00000143368 ENSMUSG00000068856 UniProt Q15427 Q5SZ64 Q8QZY9 RefSeq (mRNA) NM_005850 NM_153053 RefSeq (protein) NP_005841 NP_694693 Location (UCSC) Chr 1: 149.92 – 149.93 Mb Chr 3: 96.08 – 96.08 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Splicing factor 3B subunit 4 is a protein that in humans is encoded by the SF3B4 gene. ^{[5] [6]}

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. ^[6]

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, a rare type of mandibulofacial dysostosis with associated limb malformations. ^[7]

Interactions

SF3B4 has been shown to interact with CDC5L, ^[8] BMPR1A ^[9] and SF3B2. ^{[5] [10]}

References

1. GRCh38: Ensembl release 89: ENSG00000143368 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000068856 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Champion-Arnaud P, Reed R (Aug 1994). "The prespliceosome components SAP 49 and SAP 145 interact in a complex implicated in tethering U2 snRNP to the branch site". Genes & Development. 8 (16): 1974–83. doi: 10.1101/gad.8.16.1974 . PMID   7958871.
6. "Entrez Gene: SF3B4 splicing factor 3b, subunit 4, 49kDa".
7. 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, Majewski J, Nickerson DA, Shendure J, Bamshad MJ, Parboosingh JS (May 2012). "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. PMC   3376638 . PMID   22541558.
8. Ajuh P, Kuster B, Panov K, Zomerdijk JC, Mann M, Lamond AI (Dec 2000). "Functional analysis of the human CDC5L complex and identification of its components by mass spectrometry". The EMBO Journal. 19 (23): 6569–81. doi:10.1093/emboj/19.23.6569. PMC   305846 . PMID   11101529.
9. Nishanian TG, Waldman T (Oct 2004). "Interaction of the BMPR-IA tumor suppressor with a developmentally relevant splicing factor". Biochemical and Biophysical Research Communications. 323 (1): 91–7. doi:10.1016/j.bbrc.2004.08.060. PMID   15351706.
10. Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.

Further reading

• Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID   8125298.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID   9373149.
• Neubauer G, King A, Rappsilber J, Calvio C, Watson M, Ajuh P, Sleeman J, Lamond A, Mann M (Sep 1998). "Mass spectrometry and EST-database searching allows characterization of the multi-protein spliceosome complex". Nature Genetics. 20 (1): 46–50. doi:10.1038/1700. PMID   9731529. S2CID   585778.
• Das BK, Xia L, Palandjian L, Gozani O, Chyung Y, Reed R (Oct 1999). "Characterization of a protein complex containing spliceosomal proteins SAPs 49, 130, 145, and 155". Molecular and Cellular Biology. 19 (10): 6796–802. doi:10.1128/mcb.19.10.6796. PMC   84676 . PMID   10490618.
• Das R, Zhou Z, Reed R (May 2000). "Functional association of U2 snRNP with the ATP-independent spliceosomal complex E". Molecular Cell. 5 (5): 779–87. doi: 10.1016/S1097-2765(00)80318-4 . PMID   10882114.
• Will CL, Schneider C, MacMillan AM, Katopodis NF, Neubauer G, Wilm M, Lührmann R, Query CC (Aug 2001). "A novel U2 and U11/U12 snRNP protein that associates with the pre-mRNA branch site". The EMBO Journal. 20 (16): 4536–46. doi:10.1093/emboj/20.16.4536. PMC   125580 . PMID   11500380.
• Will CL, Urlaub H, Achsel T, Gentzel M, Wilm M, Lührmann R (Sep 2002). "Characterization of novel SF3b and 17S U2 snRNP proteins, including a human Prp5p homologue and an SF3b DEAD-box protein". The EMBO Journal. 21 (18): 4978–88. doi:10.1093/emboj/cdf480. PMC   126279 . PMID   12234937.
• Golas MM, Sander B, Will CL, Lührmann R, Stark H (May 2003). "Molecular architecture of the multiprotein splicing factor SF3b". Science. 300 (5621): 980–4. Bibcode:2003Sci...300..980G. doi:10.1126/science.1084155. PMID   12738865. S2CID   31046270.
• Lehner B, Semple JI, Brown SE, Counsell D, Campbell RD, Sanderson CM (Jan 2004). "Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region". Genomics. 83 (1): 153–67. doi:10.1016/S0888-7543(03)00235-0. PMID   14667819.
• Will CL, Schneider C, Hossbach M, Urlaub H, Rauhut R, Elbashir S, Tuschl T, Lührmann R (Jun 2004). "The human 18S U11/U12 snRNP contains a set of novel proteins not found in the U2-dependent spliceosome". RNA. 10 (6): 929–41. doi:10.1261/rna.7320604. PMC   1370585 . PMID   15146077.
• Nishanian TG, Waldman T (Oct 2004). "Interaction of the BMPR-IA tumor suppressor with a developmentally relevant splicing factor". Biochemical and Biophysical Research Communications. 323 (1): 91–7. doi:10.1016/j.bbrc.2004.08.060. PMID   15351706.
• Lin KT, Lu RM, Tarn WY (Oct 2004). "The WW domain-containing proteins interact with the early spliceosome and participate in pre-mRNA splicing in vivo". Molecular and Cellular Biology. 24 (20): 9176–85. doi:10.1128/MCB.24.20.9176-9185.2004. PMC   517884 . PMID   15456888.
• Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, Zhang H, Zha XM, Polakiewicz RD, Comb MJ (Jan 2005). "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells". Nature Biotechnology. 23 (1): 94–101. doi:10.1038/nbt1046. PMID   15592455. S2CID   7200157.
• Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
• Guo D, Han J, Adam BL, Colburn NH, Wang MH, Dong Z, Eizirik DL, She JX, Wang CY (Dec 2005). "Proteomic analysis of SUMO4 substrates in HEK293 cells under serum starvation-induced stress". Biochemical and Biophysical Research Communications. 337 (4): 1308–18. doi:10.1016/j.bbrc.2005.09.191. PMID   16236267.
• Terada Y, Yasuda Y (Nov 2006). "Human immunodeficiency virus type 1 Vpr induces G2 checkpoint activation by interacting with the splicing factor SAP145". Molecular and Cellular Biology. 26 (21): 8149–58. doi:10.1128/MCB.01170-06. PMC   1636759 . PMID   16923959.

External links

• SF3B4 human gene location in the UCSC Genome Browser .
• SF3B4 human gene details in the UCSC Genome Browser .