PUF60

Protein-coding gene in the species Homo sapiens

PUF60
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2DNY, 2KXF, 2KXH, 2QFJ, 3DXB, 3UE2, 3US5, 3UWT

Identifiers
AliasesPUF60, FIR, RoBPI, SIAHBP1, VRJS, poly(U) binding splicing factor 60KDa, poly(U) binding splicing factor 60
External IDsOMIM: 604819; MGI: 1915209; HomoloGene: 8614; GeneCards: PUF60; OMA:PUF60 - orthologs
Gene location (Human)
Chromosome 8 (human)
Chr.Chromosome 8 (human)[1]
Chromosome 8 (human)
Genomic location for PUF60
Genomic location for PUF60
Band8q24.3Start143,816,344 bp[1]
End143,829,352 bp[1]
Gene location (Mouse)
Chromosome 15 (mouse)
Chr.Chromosome 15 (mouse)[2]
Chromosome 15 (mouse)
Genomic location for PUF60
Genomic location for PUF60
Band15|15 D3Start75,942,031 bp[2]
End75,952,773 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 15: 75.94 – 75.95 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Poly(U)-binding-splicing factor PUF60 is a protein that in humans is encoded by the PUF60 gene.[5][6][7][8]

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.[8]

Interactions

PUF60 has been shown to interact with U2AF2.[9][10]

References

  1. ^ a b c ENSG00000274081 GRCh38: Ensembl release 89: ENSG00000179950, ENSG00000274081 – Ensembl, May 2017
  2. ^ a b c 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. Open access icon
  8. ^ a b "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.
  • 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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  • 2dny: Solution structure of the third RNA binding domain of FBP-interacting repressor, SIAHBP1
    2dny: Solution structure of the third RNA binding domain of FBP-interacting repressor, SIAHBP1


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