Human Gene PUF60 (uc003yzs.4) Description and Page Index
Description: Homo sapiens poly-U binding splicing factor 60KDa (PUF60), transcript variant 1, mRNA. RefSeq Summary (NM_078480): This gene encodes a nucleic acid-binding protein that plays a role in a variety of nuclear processes, including pre-mRNA splicing and transcriptional regulation. The encoded protein forms a complex with the far upstream DNA element (FUSE) and FUSE-binding protein at the myelocytomatosis oncogene (MYC) promoter. This complex represses MYC transcription through the core-TFIIH basal transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]. Transcript (Including UTRs) Position: hg19 chr8:144,898,514-144,911,556 Size: 13,043 Total Exon Count: 12 Strand: - Coding Region Position: hg19 chr8:144,898,690-144,911,473 Size: 12,784 Coding Exon Count: 12
ID:PUF60_HUMAN DESCRIPTION: RecName: Full=Poly(U)-binding-splicing factor PUF60; AltName: Full=60 kDa poly(U)-binding-splicing factor; AltName: Full=FUSE-binding protein-interacting repressor; Short=FBP-interacting repressor; AltName: Full=Ro-binding protein 1; Short=RoBP1; AltName: Full=Siah-binding protein 1; Short=Siah-BP1; 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. SUBUNIT: Homodimer. Associates with the spliceosome. Found in a complex with TROVE2 and Y5 RNA. Found in a complex with FUBP1 and far upstream element (FUSE) DNA segment. Interacts directly with ERCC3. Interacts with CDK7, GTF2H1 and SFRS11. Does not interact with ERCC3 in xeroderma pigmentosum complementation group B (XPB) cells. INTERACTION: O00555:CACNA1A; NbExp=2; IntAct=EBI-1053259, EBI-766279; Q15365:PCBP1; NbExp=2; IntAct=EBI-1053259, EBI-946095; Q96I34:PPP1R16A; NbExp=2; IntAct=EBI-1053259, EBI-710402; Q9UHR5:SAP30BP; NbExp=4; IntAct=EBI-1053259, EBI-751683; SUBCELLULAR LOCATION: Nucleus. Note=Colocalizes partially with TROVE2. 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. DOMAIN: The third RNA recognition motif, called PUMP domain, is atypical and may rather mediate homodimerization and/or protein- protein interactions. MISCELLANEOUS: Does not repress TFIIH-mediated transcription in xeroderma pigmentosum complementation group B (XPB) cells. SIMILARITY: Belongs to the RRM half pint family. SIMILARITY: Contains 3 RRM (RNA recognition motif) domains.
MalaCards Disease Associations
MalaCards Gene Search: PUF60 Diseases sorted by gene-association score: verheij syndrome* (1228), coloboma (10) * = Manually curated disease association
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9UHX1
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.