Poly(U)-binding-splicing factor PUF60 is a protein that in humans is encoded by the PUF60gene.[1][2][3][4]
The protein encoded by this gene is a Ro RNP-binding protein. It interacts with Ro RNPs and their interaction is thought to represent a gain of function for Ro RNPs. This protein also forms a ternary complex with far upstream element (FUSE) and FUSE-binding protein. It can repress a c-myc reporter via the FUSE. It is also known to target transcription factor IIH and inhibit activated transcription. This gene is implicated in the xeroderma pigmentosum disorder. There are two alternatively spliced transcript variants of this gene encoding different isoforms. There seems to be evidence of multiple polyadenylation sites for this gene.[4]
↑Liu J, He L, Collins I, Ge H, Libutti D, Li J, Egly JM, Levens D (Jul 2000). "The FBP interacting repressor targets TFIIH to inhibit activated transcription". Mol Cell. 5 (2): 331–41. doi:10.1016/S1097-2765(00)80428-1. PMID10882074.
Poleev A, Hartmann A, Stamm S (2000). "A trans-acting factor, isolated by the three-hybrid system, that influences alternative splicing of the amyloid precursor protein minigene". Eur. J. Biochem. 267 (13): 4002–10. doi:10.1046/j.1432-1327.2000.01431.x. PMID10866799.
Liu J, Akoulitchev S, Weber A, et al. (2001). "Defective interplay of activators and repressors with TFIH in xeroderma pigmentosum". Cell. 104 (3): 353–63. doi:10.1016/S0092-8674(01)00223-9. PMID11239393.
Sandrock B, Egly JM (2001). "A yeast four-hybrid system identifies Cdk-activating kinase as a regulator of the XPD helicase, a subunit of transcription factor IIH". J. Biol. Chem. 276 (38): 35328–33. doi:10.1074/jbc.M105570200. PMID11445587.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID14702039.
Jin J, Smith FD, Stark C, et al. (2004). "Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization". Curr. Biol. 14 (16): 1436–50. doi:10.1016/j.cub.2004.07.051. PMID15324660.
Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. PMID16169070.
Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID16713569.