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PUF60
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2DNY, 2KXF, 2KXH, 2QFJ, 3DXB, 3UE2, 3US5, 3UWT
Identifiers
Aliases	PUF60, FIR, RoBPI, SIAHBP1, VRJS, poly(U) binding splicing factor 60KDa, poly(U) binding splicing factor 60
External IDs	OMIM: 604819; MGI: 1915209; HomoloGene: 8614; GeneCards: PUF60; OMA:PUF60 - orthologs
Gene location (Human) Chr. Chromosome 8 (human) Band 8q24.3 Start 143,816,344 bp End 143,829,352 bp
Gene location (Mouse) Chr. Chromosome 15 (mouse) Band 15|15 D3 Start 75,942,031 bp End 75,952,773 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ventricular zone right uterine tube ganglionic eminence tibial nerve prefrontal cortex substantia nigra C1 segment skin of leg apex of heart putamen Top expressed in mandibular prominence maxillary prominence somite Gonadal ridge neural layer of retina vestibular sensory epithelium supraoptic nucleus ventricular zone internal carotid artery external carotid artery More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleic acid binding DNA binding protein binding identical protein binding RNA binding cadherin binding Cellular component cell junction cyclin-dependent protein kinase activating kinase holoenzyme complex nucleus nucleoplasm Biological process mRNA processing regulation of transcription, DNA-templated transcription, DNA-templated RNA splicing apoptotic process mRNA splicing, via spliceosome Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 22827 67959 Ensembl ENSG00000179950 ENSG00000274081 ENSMUSG00000002524 UniProt Q9UHX1 Q3UEB3 RefSeq (mRNA) NM_001136033 NM_001271096 NM_001271097 NM_001271098 NM_001271099 NM_001271100 NM_014281 NM_078480 NM_001362895 NM_001362896 NM_001362897 NM_001164600 NM_028364 NM_133691 NM_001356629 NM_001378984 NM_001378985 NM_001378986 RefSeq (protein) NP_001129505 NP_001258025 NP_001258026 NP_001258027 NP_001258028 NP_001258029 NP_055096 NP_510965 NP_001349824 NP_001349825 NP_001349826 NP_001158072 NP_082640 NP_598452 NP_001343558 NP_001365913 NP_001365914 NP_001365915 NP_001389972 NP_001389973 NP_001389974 NP_001389975 Location (UCSC) Chr 8: 143.82 – 143.83 Mb Chr 15: 75.94 – 75.95 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Poly(U)-binding-splicing factor PUF60 is a protein that in humans is encoded by the PUF60 gene.

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.

Interactions

PUF60 has been shown to interact with U2AF2.

References

1. ^ ENSG00000274081 GRCh38: Ensembl release 89: ENSG00000179950, ENSG00000274081 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000002524 – 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. Bouffard P, Barbar E, Brière F, Boire G (January 2000). "Interaction cloning and characterization of RoBPI, a novel protein binding to human Ro ribonucleoproteins". RNA. 6 (1): 66–78. doi:10.1017/S1355838200990277. PMC 1369894. PMID 10668799.
6. Liu J, He L, Collins I, Ge H, Libutti D, Li J, Egly JM, Levens D (February 2000). "The FBP interacting repressor targets TFIIH to inhibit activated transcription". Molecular Cell. 5 (2): 331–41. doi:10.1016/S1097-2765(00)80428-1. PMID 10882074.
7. Hastings ML, Allemand E, Duelli DM, Myers MP, Krainer AR (June 2007). Valcarcel J (ed.). "Control of pre-mRNA splicing by the general splicing factors PUF60 and U2AF(65)". PLOS ONE. 2 (6): e538. Bibcode:2007PLoSO...2..538H. doi:10.1371/journal.pone.0000538. PMC 1888729. PMID 17579712.
8. ^ "Entrez Gene: SIAHBP1 fuse-binding protein-interacting repressor".
9. 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 (October 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.
10. Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.

Further reading

• Page-McCaw PS, Amonlirdviman K, Sharp PA (December 1999). "PUF60: a novel U2AF65-related splicing activity". RNA. 5 (12): 1548–60. doi:10.1017/S1355838299991938. PMC 1369877. PMID 10606266.
• Poleev A, Hartmann A, Stamm S (July 2000). "A trans-acting factor, isolated by the three-hybrid system, that influences alternative splicing of the amyloid precursor protein minigene". European Journal of Biochemistry. 267 (13): 4002–10. doi:10.1046/j.1432-1327.2000.01431.x. PMID 10866799.
• Liu J, Akoulitchev S, Weber A, Ge H, Chuikov S, Libutti D, Wang XW, Conaway JW, Harris CC, Conaway RC, Reinberg D, Levens D (February 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. PMID 11239393. S2CID 16066683.
• Sandrock B, Egly JM (September 2001). "A yeast four-hybrid system identifies Cdk-activating kinase as a regulator of the XPD helicase, a subunit of transcription factor IIH". The Journal of Biological Chemistry. 276 (38): 35328–33. doi:10.1074/jbc.M105570200. PMID 11445587.
• Jin J, Smith FD, Stark C, Wells CD, Fawcett JP, Kulkarni S, Metalnikov P, O'Donnell P, Taylor P, Taylor L, Zougman A, Woodgett JR, Langeberg LK, Scott JD, Pawson T (August 2004). "Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization". Current Biology. 14 (16): 1436–50. Bibcode:2004CBio...14.1436J. doi:10.1016/j.cub.2004.07.051. PMID 15324660. S2CID 2371325.
• Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksöz E, Droege A, Krobitsch S, Korn B, Birchmeier W, Lehrach H, Wanker EE (September 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. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070. S2CID 8235923.
• Liu J, Kouzine F, Nie Z, Chung HJ, Elisha-Feil Z, Weber A, Zhao K, Levens D (May 2006). "The FUSE/FBP/FIR/TFIIH system is a molecular machine programming a pulse of c-myc expression". The EMBO Journal. 25 (10): 2119–30. doi:10.1038/sj.emboj.7601101. PMC 1462968. PMID 16628215.
• Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY (May 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. PMID 16713569. S2CID 13709685.
• Kew C, Huang W, Fischer J, Ganesan R, Robinson N, Antebi A (Jun 2020). "Evolutionarily conserved regulation of immunity by the splicing factor RNP-6/PUF60". eLife. 9: e57591. doi:10.7554/eLife.57591. PMC 7332298. PMID 32538777.

External links

• PDBe-KB provides an overview of all the structure information available in the PDB for Human Poly(U)-binding-splicing factor PUF60

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