InnateDB Protein
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IDBP-596230.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PUF60
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Protein Name
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poly-U binding splicing factor 60KDa
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Synonyms
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FIR; RoBPI; SIAHBP1; VRJS;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000434359
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InnateDB Gene
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IDBG-39284 (PUF60)
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Protein Structure
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Function |
DNA- and RNA-binding protein, involved in several nuclear processes such as pre-mRNA splicing, apoptosis and transcription regulation. In association with FUBP1 regulates MYC transcription at the P2 promoter through the core-TFIIH basal transcription factor. Acts as a transcriptional repressor through the core-TFIIH basal transcription factor. Represses FUBP1-induced transcriptional activation but not basal transcription. Decreases ERCC3 helicase activity. Does not repress TFIIH-mediated transcription in xeroderma pigmentosum complementation group B (XPB) cells. Is also involved in pre-mRNA splicing. Promotes splicing of an intron with weak 3'-splice site and pyrimidine tract in a cooperative manner with U2AF2. Involved in apoptosis induction when overexpressed in HeLa cells. Isoform 6 failed to repress MYC transcription and inhibited FIR-induced apoptosis in colorectal cancer. Isoform 6 may contribute to tumor progression by enabling increased MYC expression and greater resistance to apoptosis in tumors than in normal cells. Modulates alternative splicing of several mRNAs. Binds to relaxed DNA of active promoter regions. Binds to the pyrimidine tract and 3'-splice site regions of pre-mRNA; binding is enhanced in presence of U2AF2. Binds to Y5 RNA in association with TROVE2. Binds to poly(U) RNA. {ECO:0000269PubMed:10606266, ECO:0000269PubMed:10882074, ECO:0000269PubMed:11239393, ECO:0000269PubMed:16452196, ECO:0000269PubMed:16628215, ECO:0000269PubMed:17579712}.
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Subcellular Localization |
Nucleus {ECO:0000269PubMed:10668799, ECO:0000269PubMed:17579712}. Note=Colocalizes partially with TROVE2.
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Disease Associations |
Verheij syndrome (VRJS) [MIM:615583]: A syndrome characterized by growth retardation, delayed psychomotor development, dysmorphic facial features, and skeletal, mainly vertebral, abnormalities. Additional variable features may include coloboma, renal defects, and cardiac defects. {ECO:0000269PubMed:24140112}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Isoform 2 is expressed in colonic epithelium and colorectal epithelium cancer (at protein level). Isoform 6 is expressed in colorectal epithelial cancer but below detection level in colonic epithelium. Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon and peripheral blood leukocytes. {ECO:0000269PubMed:10668799, ECO:0000269PubMed:16452196}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 113 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
113
[view]
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Protein-Protein |
112
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
GO:0019907
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cyclin-dependent protein kinase activating kinase holoenzyme complex
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GO:0030529
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ribonucleoprotein complex
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PDB ID |
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InterPro |
IPR000504
RNA recognition motif domain
IPR003954
RNA recognition motif domain, eukaryote
IPR006532
Poly-U binding splicing factor, half-pint
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PFAM |
PF00076
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PRINTS |
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PIRSF |
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SMART |
SM00360
SM00361
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TIGRFAMs |
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Modification |
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SwissProt |
Q9UHX1
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PhosphoSite |
PhosphoSite-Q9UHX1
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
22827
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UniGene |
Hs.521924
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RefSeq |
NP_510965
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HUGO |
HGNC:17042
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OMIM |
604819
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CCDS |
CCDS47934
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HPRD |
18051
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IMGT |
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EMBL |
AF114818
AF190744
AF217197
AK292373
BC008875
BC009734
BC011265
BC011979
CH471162
CR457143
U51586
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GenPept |
AAB41656
AAF05605
AAF23589
AAF27522
AAH08875
AAH09734
AAH11265
AAH11979
BAF85062
CAG33424
EAW82187
EAW82189
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