2024-04-27 07:37:25, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001271100 1916 bp mRNA linear PRI 07-JUL-2013 DEFINITION Homo sapiens poly-U binding splicing factor 60KDa (PUF60), transcript variant 8, mRNA. ACCESSION NM_001271100 VERSION NM_001271100.1 GI:402794207 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 1916) AUTHORS Kajiwara,T., Matsushita,K., Itoga,S., Tamura,M., Tanaka,N., Tomonaga,T., Matsubara,H., Shimada,H., Habara,Y., Matsuo,M. and Nomura,F. TITLE SAP155-mediated c-myc suppressor far-upstream element-binding protein-interacting repressor splicing variants are activated in colon cancer tissues JOURNAL Cancer Sci. 104 (2), 149-156 (2013) PUBMED 23113893 REMARK GeneRIF: Circulating FIR variant mRNA in the peripheral blood of cancer patients were significantly overexpressed compared to that in healthy volunteers. REFERENCE 2 (bases 1 to 1916) AUTHORS Matsushita,K., Kajiwara,T., Tamura,M., Satoh,M., Tanaka,N., Tomonaga,T., Matsubara,H., Shimada,H., Yoshimoto,R., Ito,A., Kubo,S., Natsume,T., Levens,D., Yoshida,M. and Nomura,F. TITLE SAP155-mediated splicing of FUSE-binding protein-interacting repressor serves as a molecular switch for c-myc gene expression JOURNAL Mol. Cancer Res. 10 (6), 787-799 (2012) PUBMED 22496461 REMARK GeneRIF: Data indicate that altered FIR and c-myc pre-mRNA splicing, in addition to c-Myc expression by augmented FIR/FIRDeltaexon2-SAP155 complex, potentially contribute to colorectal cancer development. REFERENCE 3 (bases 1 to 1916) AUTHORS Hsiao,H.H., Nath,A., Lin,C.Y., Folta-Stogniew,E.J., Rhoades,E. and Braddock,D.T. TITLE Quantitative characterization of the interactions among c-myc transcriptional regulators FUSE, FBP, and FIR JOURNAL Biochemistry 49 (22), 4620-4634 (2010) PUBMED 20420426 REMARK GeneRIF: FIR is monomeric in solution but dimerizes upon DNA binding; DNA-induced dimerization is mediated by FIR's RNA recognition motif. REFERENCE 4 (bases 1 to 1916) AUTHORS Matsushita,K., Tomonaga,T., Kajiwara,T., Shimada,H., Itoga,S., Hiwasa,T., Kubo,S., Ochiai,T., Matsubara,H. and Nomura,F. TITLE c-myc suppressor FBP-interacting repressor for cancer diagnosis and therapy JOURNAL Front. Biosci. 14, 3401-3408 (2009) PUBMED 19273283 REMARK Publication Status: Online-Only REFERENCE 5 (bases 1 to 1916) AUTHORS Matsushita,K., Tomonaga,T., Shimada,H., Shioya,A., Higashi,M., Matsubara,H., Harigaya,K., Nomura,F., Libutti,D., Levens,D. and Ochiai,T. TITLE An essential role of alternative splicing of c-myc suppressor FUSE-binding protein-interacting repressor in carcinogenesis JOURNAL Cancer Res. 66 (3), 1409-1417 (2006) PUBMED 16452196 REFERENCE 6 (bases 1 to 1916) AUTHORS Poleev,A., Hartmann,A. and Stamm,S. TITLE A trans-acting factor, isolated by the three-hybrid system, that influences alternative splicing of the amyloid precursor protein minigene JOURNAL Eur. J. Biochem. 267 (13), 4002-4010 (2000) PUBMED 10866799 REFERENCE 7 (bases 1 to 1916) AUTHORS Liu,J., He,L., Collins,I., Ge,H., Libutti,D., Li,J., Egly,J.M. and Levens,D. TITLE The FBP interacting repressor targets TFIIH to inhibit activated transcription JOURNAL Mol. Cell 5 (2), 331-341 (2000) PUBMED 10882074 REFERENCE 8 (bases 1 to 1916) AUTHORS Bouffard,P., Barbar,E., Briere,F. and Boire,G. TITLE Interaction cloning and characterization of RoBPI, a novel protein binding to human Ro ribonucleoproteins JOURNAL RNA 6 (1), 66-78 (2000) PUBMED 10668799 REFERENCE 9 (bases 1 to 1916) AUTHORS Page-McCaw,P.S., Amonlirdviman,K. and Sharp,P.A. TITLE PUF60: a novel U2AF65-related splicing activity JOURNAL RNA 5 (12), 1548-1560 (1999) PUBMED 10606266 REFERENCE 10 (bases 1 to 1916) AUTHORS Bouffard,P., Briere,F., Wellinger,R.J. and Boire,G. TITLE Identification of ribonucleoprotein (RNP)-specific protein interactions using a yeast RNP interaction trap assay (RITA) JOURNAL BioTechniques 27 (4), 790-796 (1999) PUBMED 10524322 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC105049.5, BG771821.1, BC009734.1 and AW249619.1. Summary: 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 Variant: This variant (8) differs in the 5' UTR and contains multiple differences in the coding region, compared to variant 1. These differences result in initiation of translation at an alternate in-frame downstream start site. The encoded isoform (h) is shorter than isoform a. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC009734.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025081, ERS025082 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-11 AC105049.5 29175-29185 12-83 BG771821.1 11-82 84-1874 BC009734.1 14-1804 1875-1916 AW249619.1 1-42 c FEATURES Location/Qualifiers source 1..1916 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="8" /map="8q24.3" gene 1..1916 /gene="PUF60" /gene_synonym="FIR; RoBPI; SIAHBP1" /note="poly-U binding splicing factor 60KDa" /db_xref="GeneID:22827" /db_xref="HGNC:17042" /db_xref="MIM:604819" exon 1..126 /gene="PUF60" /gene_synonym="FIR; RoBPI; SIAHBP1" /inference="alignment:Splign:1.39.8" misc_feature 124..126 /gene="PUF60" /gene_synonym="FIR; RoBPI; SIAHBP1" /note="upstream in-frame stop codon" exon 127..213 /gene="PUF60" /gene_synonym="FIR; RoBPI; SIAHBP1" /inference="alignment:Splign:1.39.8" variation 183 /gene="PUF60" /gene_synonym="FIR; RoBPI; SIAHBP1" /replace="a" /replace="g" /db_xref="dbSNP:11540342" exon 214..309 /gene="PUF60" /gene_synonym="FIR; RoBPI; SIAHBP1" /inference="alignment:Splign:1.39.8" CDS 232..1731 /gene="PUF60" /gene_synonym="FIR; RoBPI; SIAHBP1" /note="isoform h is encoded by transcript variant 8; FBP interacting repressor; pyrimidine tract binding splicing factor; Ro ribonucleoprotein-binding protein 1; FUSE-binding protein-interacting repressor; poly(U)-binding-splicing factor PUF60; Siah binding protein 1" /codon_start=1 /product="poly(U)-binding-splicing factor PUF60 isoform h" /protein_id="NP_001258029.1" /db_xref="GI:402794208" /db_xref="CCDS:CCDS59514.1" /db_xref="GeneID:22827" /db_xref="HGNC:17042" /db_xref="MIM:604819" /translation="
MENGQSTAAKLGLPPLTPEQQEALQKAKKYAMEQSIKSVLVKQTIAHQQQQLTNLQMAAQRQRALAIMCRVYVGSIYYELGEDTIRQAFAPFGPIKSIDMSWDSVTMKHKGFAFVEYEVPEAAQLALEQMNSVMLGGRNIKVGRPSNIGQAQPIIDQLAEEARAFNRIYVASVHQDLSDDDIKSVFEAFGKIKSCTLARDPTTGKHKGYGFIEYEKAQSSQDAVSSMNLFDLGGQYLRVGKAVTPPMPLLTPATPGGLPPAAAVAAAAATAKITAQEAVAGAAVLGTLGTPGLVSPALTLAQPLGTLPQAVMAAQAPGVITGVTPARPPIPVTIPSVGVVNPILASPPTLGLLEPKKEKEEEELFPESERPEMLSEQEHMSISGSSARHMVMQKLLRKQESTVMVLRNMVDPKDIDDDLEGEVTEECGKFGAVNRVIIYQEKQGEEEDAEIIVKIFVEFSIASETHKAIQALNGRWFAGRKVVAEVYDQERFDNSDLSA
" misc_feature 439..663 /gene="PUF60" /gene_synonym="FIR; RoBPI; SIAHBP1" /note="RRM (RNA recognition motif), also known as RBD (RNA binding domain) or RNP (ribonucleoprotein domain), is a highly abundant domain in eukaryotes found in proteins involved in post-transcriptional gene expression processes including mRNA and rRNA...; Region: RRM; cd00590" /db_xref="CDD:100104" misc_feature order(445..447,565..567,571..573) /gene="PUF60" /gene_synonym="FIR; RoBPI; SIAHBP1" /note="RNA/DNA binding site [nucleotide binding]; other site" /db_xref="CDD:100104" misc_feature 655..663 /gene="PUF60" /gene_synonym="FIR; RoBPI; SIAHBP1" /note="RRM dimerization site [polypeptide binding]; other site" /db_xref="CDD:100104" misc_feature 730..954 /gene="PUF60" /gene_synonym="FIR; RoBPI; SIAHBP1" /note="RRM (RNA recognition motif), also known as RBD (RNA binding domain) or RNP (ribonucleoprotein domain), is a highly abundant domain in eukaryotes found in proteins involved in post-transcriptional gene expression processes including mRNA and rRNA...; Region: RRM; cd00590" /db_xref="CDD:100104" misc_feature order(736..738,856..858,862..864) /gene="PUF60" /gene_synonym="FIR; RoBPI; SIAHBP1" /note="RNA/DNA binding site [nucleotide binding]; other site" /db_xref="CDD:100104" misc_feature 946..954 /gene="PUF60" /gene_synonym="FIR; RoBPI; SIAHBP1" /note="RRM dimerization site [polypeptide binding]; other site" /db_xref="CDD:100104" misc_feature 1465..1686 /gene="PUF60" /gene_synonym="FIR; RoBPI; SIAHBP1" /note="RRM (RNA recognition motif), also known as RBD (RNA binding domain) or RNP (ribonucleoprotein domain), is a highly abundant domain in eukaryotes found in proteins involved in post-transcriptional gene expression processes including mRNA and rRNA...; Region: RRM; cd00590" /db_xref="CDD:100104" misc_feature order(1591..1593,1597..1599) /gene="PUF60" /gene_synonym="FIR; RoBPI; SIAHBP1" /note="RNA/DNA binding site [nucleotide binding]; other site" /db_xref="CDD:100104" misc_feature 1681..1686 /gene="PUF60" /gene_synonym="FIR; RoBPI; SIAHBP1" /note="RRM dimerization site [polypeptide binding]; other site" /db_xref="CDD:100104" exon 310..399 /gene="PUF60" /gene_synonym="FIR; RoBPI; SIAHBP1" /inference="alignment:Splign:1.39.8" exon 400..561 /gene="PUF60" /gene_synonym="FIR; RoBPI; SIAHBP1" /inference="alignment:Splign:1.39.8" variation 486 /gene="PUF60" /gene_synonym="FIR; RoBPI; SIAHBP1" /replace="c" /replace="t" /db_xref="dbSNP:11540345" exon 562..654 /gene="PUF60" /gene_synonym="FIR; RoBPI; SIAHBP1" /inference="alignment:Splign:1.39.8" exon 655..868 /gene="PUF60" /gene_synonym="FIR; RoBPI; SIAHBP1" /inference="alignment:Splign:1.39.8" exon 869..1059 /gene="PUF60" /gene_synonym="FIR; RoBPI; SIAHBP1" /inference="alignment:Splign:1.39.8" variation 966 /gene="PUF60" /gene_synonym="FIR; RoBPI; SIAHBP1" /replace="c" /replace="g" /db_xref="dbSNP:11540343" exon 1060..1195 /gene="PUF60" /gene_synonym="FIR; RoBPI; SIAHBP1" /inference="alignment:Splign:1.39.8" exon 1196..1431 /gene="PUF60" /gene_synonym="FIR; RoBPI; SIAHBP1" /inference="alignment:Splign:1.39.8" exon 1432..1907 /gene="PUF60" /gene_synonym="FIR; RoBPI; SIAHBP1" /inference="alignment:Splign:1.39.8" STS 1529..1779 /gene="PUF60" /gene_synonym="FIR; RoBPI; SIAHBP1" /standard_name="WI-19511" /db_xref="UniSTS:31309" STS 1720..1863 /gene="PUF60" /gene_synonym="FIR; RoBPI; SIAHBP1" /standard_name="RH70666" /db_xref="UniSTS:37443" polyA_site 1874 /gene="PUF60" /gene_synonym="FIR; RoBPI; SIAHBP1" polyA_site 1907 /gene="PUF60" /gene_synonym="FIR; RoBPI; SIAHBP1" ORIGIN
gcggccggctcgcggcctcagcttccggcctgcggaccccagcttccggcggggcggggcgggggcctgggcgcggcgtgtggcccttgcgggcgagcctggcggggttgcgttcctgtccgctagcaggtcaatggccagcaaggaggggggtccgagccggcggcggcggcggcagtggtggcagcgggagacaaatggaaacctccacagggcacagactccatcaagatggagaacgggcagagcacagccgccaagctggggctgcctcccctgacgcccgagcagcaggaggcccttcagaaggccaagaagtacgccatggagcagagcatcaagagtgtgctggtgaagcagaccatcgcgcaccagcagcagcagctcaccaacctgcagatggcggctcagcggcagcgggcgctggccatcatgtgccgcgtctacgtgggctctatctactatgagctgggggaggacaccatccgccaggcctttgccccctttggccccatcaagagcatcgacatgtcctgggactccgtcaccatgaagcacaagggctttgccttcgtggagtatgaggtccccgaagctgcacagctggccttggagcagatgaactcggtgatgctggggggcaggaacatcaaggtgggcagacccagcaacatagggcaggcccagcccatcatagaccagttggctgaggaggcacgggccttcaaccgcatctacgtggcctctgtgcaccaggacctctcagacgatgacatcaagagcgtgtttgaggcctttggcaagatcaagtcctgcacactggcccgggaccccacaactggcaagcacaagggctacggcttcattgagtacgagaaggcccagtcgtcccaagatgctgtgtcttccatgaacctctttgacctgggtggccagtacttgcgggtgggcaaggctgtcacaccgcccatgcccctactcacaccagccacgcctggaggcctcccacctgccgctgctgtggcagctgctgcagccactgccaagatcacagctcaggaagcagtggccggagcagcggtgctgggtaccctgggcacacctggactggtgtccccagcactgaccctggcccagcccctgggcactttgccccaggctgtcatggctgcccaggcacctggagtcatcacaggtgtgaccccagcccgtcctcctatcccggtcaccatcccctcggtgggagtggtgaaccccatcctggccagccctccaacgctgggtctcctggagcccaagaaggagaaggaagaagaggagctgtttcccgagtcagagcggccagagatgctgagcgagcaggagcacatgagcatctcgggcagtagcgcccgacacatggtgatgcagaagctgctccgcaagcaggagtctacagtgatggttctgcgcaacatggtggaccccaaggacatcgatgatgacctggaaggggaggtgacagaggagtgtggcaagttcggggccgtgaaccgcgtcatcatctaccaagagaaacaaggcgaggaggaggatgcagaaatcattgtcaagatctttgtggagttttccatagcctctgagactcataaggccatccaggccctcaatggccgctggtttgctggccgcaaggtggtggctgaagtgtacgaccaggagcgttttgataacagtgacctctctgcgtgacagtggtccctctccccggacttgcacttgttccttgtttcctctgggttttatagtgatacagtggtgtccccggggccaggcgcgctctgcccagcccagcctacagtgcggataaaggtgcggatgctgctggccctgaacgtccgtgtgtctgccgtcggtcctgtcaccgaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:22827 -> Molecular function: GO:0000166 [nucleotide binding] evidence: IEA GeneID:22827 -> Molecular function: GO:0003677 [DNA binding] evidence: IEA GeneID:22827 -> Molecular function: GO:0003723 [RNA binding] evidence: IEA GeneID:22827 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:22827 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA GeneID:22827 -> Biological process: GO:0006355 [regulation of transcription, DNA-dependent] evidence: IEA GeneID:22827 -> Biological process: GO:0006397 [mRNA processing] evidence: IEA GeneID:22827 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:22827 -> Biological process: GO:0008380 [RNA splicing] evidence: IEA GeneID:22827 -> Cellular component: GO:0005634 [nucleus] evidence: IDA GeneID:22827 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA GeneID:22827 -> Cellular component: GO:0019907 [cyclin-dependent protein kinase activating kinase holoenzyme complex] evidence: IDA GeneID:22827 -> Cellular component: GO:0030529 [ribonucleoprotein complex] evidence: IEA
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