FHIT is also known as human accelerated region 10. It may, therefore, have played a key role in differentiating humans from apes.[7]
This gene, a member of the histidine triad gene family, encodes a diadenosine P1,P3-bis(5'-adenosyl)-triphosphate adenylohydrolase involved in purine metabolism. The gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts of this gene. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas.[8]
Though the exact molecular function of FHIT is still partially unclear, the gene works as a tumor suppressor as it has been demonstrated in animal studies.[9][10][11] Furthermore FHIT has been shown to synergize with VHL, another tumor suppressor, in protecting against chemically - induced lung cancer.[12]
FHIT also acts as a tumor suppressor of HER2/neu driven breast cancer.[13]
^ abcGRCh38: Ensembl release 89: ENSG00000189283 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000060579 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Ohta MH, Cotticelli MG, Kastury K, Baffa R, Palazzo J, Siprashvili Z, Mori M, McCue P, Druck T, Croce CM, Huebner K (Apr 1996). "The FHIT gene, spanning the chromosome 3p14.2 fragile site and renal carcinoma-associated t(3;8) breakpoint, is abnormal in digestive tract cancers". Cell. 84 (4): 587–97. doi:10.1016/S0092-8674(00)81034-X. PMID 8598045. S2CID 18792069.
^Pekarsky Y, Campiglio M, Siprashvili Z, Druck T, Sedkov Y, Tillib S, Draganescu A, Wermuth P, Rothman JH, Huebner K, Buchberg AM, Mazo A, Brenner C, Croce CM (Aug 1998). "Nitrilase and Fhit homologs are encoded as fusion proteins in Drosophila melanogaster and Caenorhabditis elegans". Proc. Natl. Acad. Sci. U.S.A. 95 (15): 8744–9. Bibcode:1998PNAS...95.8744P. doi:10.1073/pnas.95.15.8744. PMC21147. PMID 9671749.
^Pollard KS, Salama SR, Lambert N, Lambot MA, Coppens S, Pedersen JS, Katzman S, King B, Onodera C, Siepel A, Kern AD, Dehay C, Igel H, Ares M, Vanderhaeghen P, Haussler D (2006-08-16). "An RNA gene expressed during cortical development evolved rapidly in humans" (PDF). Nature. 443 (7108): 167–72. Bibcode:2006Natur.443..167P. doi:10.1038/nature05113. PMID 16915236. S2CID 18107797. supplement
^Fong LY, Fidanza V, Zanesi N, Lock LF, Siracusa LD, Mancini R, Siprashvili Z, Ottey M, Martin SE, Druck T, McCue PA, Croce CM, Huebner K (April 2000). "Muir-Torre-like syndrome in Fhit-deficient mice". Proc. Natl. Acad. Sci. U.S.A. 97 (9): 4742–7. Bibcode:2000PNAS...97.4742F. doi:10.1073/pnas.080063497. PMC18303. PMID 10758156.
^Zanesi N, Fidanza V, Fong LY, Mancini R, Druck T, Valtieri M, Rüdiger T, McCue PA, Croce CM, Huebner K (August 2001). "The tumor spectrum in FHIT-deficient mice". Proc. Natl. Acad. Sci. U.S.A. 98 (18): 10250–5. Bibcode:2001PNAS...9810250Z. doi:10.1073/pnas.191345898. PMC56947. PMID 11517343.
^Zanesi N, Pekarsky Y, Croce CM (December 2005). "A mouse model of the fragile gene FHIT: From carcinogenesis to gene therapy and cancer prevention". Mutat. Res. 591 (1–2): 103–9. doi:10.1016/j.mrfmmm.2005.05.016. PMID 16085127.
^Zanesi N, Mancini R, Sevignani C, Vecchione A, Kaou M, Valtieri M, Calin GA, Pekarsky Y, Gnarra JR, Croce CM, Huebner K (August 2005). "Lung cancer susceptibility in Fhit-deficient mice is increased by Vhl haploinsufficiency". Cancer Res. 65 (15): 6576–82. doi:10.1158/0008-5472.CAN-05-1128. PMID 16061637.
^Bianchi F, Tagliabue E, Ménard S, Campiglio M (March 2007). "Fhit expression protects against HER2-driven breast tumor development: unraveling the molecular interconnections". Cell Cycle. 6 (6): 643–6. doi:10.4161/cc.6.6.4033. hdl:2434/810034. PMID 17374991.
^Shi Y, Zou M, Farid NR, Paterson MC (December 2000). "Association of FHIT (fragile histidine triad), a candidate tumour suppressor gene, with the ubiquitin-conjugating enzyme hUBC9". Biochem. J. 352 Pt 2 (2): 443–8. doi:10.1042/0264-6021:3520443. PMC1221476. PMID 11085938.
External linksedit
Overview of all the structural information available in the PDB for UniProt: P49789 (Bis(5'-adenosyl)-triphosphatase) at the PDBe-KB.
This article on a gene on human chromosome 3 is a stub. You can help Wikipedia by expanding it.
fhit, adenosyl, triphosphatase, also, known, fragile, histidine, triad, protein, enzyme, that, humans, encoded, gene, available, structurespdbortholog, search, pdbe, rcsblist, codes1fhi, 2fhi, 2fit, 5fit, 3fit, 1fit, 4fit, 6fitidentifiersaliases, ap3aase, fra3. Bis 5 adenosyl triphosphatase also known as fragile histidine triad protein FHIT is an enzyme that in humans is encoded by the FHIT gene 5 6 FHITAvailable structuresPDBOrtholog search PDBe RCSBList of PDB id codes1FHI 2FHI 2FIT 5FIT 3FIT 1FIT 4FIT 6FITIdentifiersAliasesFHIT AP3Aase FRA3B fragile histidine triad triada histidina fragil fragile histidine triad diadenosine triphosphataseExternal IDsOMIM 601153 MGI 1277947 HomoloGene 21661 GeneCards FHITGene location Human Chr Chromosome 3 human 1 Band3p14 2Start59 747 277 bp 1 End61 251 459 bp 1 Gene location Mouse Chr Chromosome 14 mouse 2 Band14 A1 14 5 61 cMStart11 307 738 bp 2 End12 919 681 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inright adrenal glandgallbladderoocytekidneyleft ventriclegastric mucosabody of pancreascingulate gyrusleft lobe of thyroid glandcaudate nucleusTop expressed inmotor neuronsacculeproximal tubuleseminal vesiculapineal glandkidneyleft colonleft lobe of liverileumlensMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionbis 5 adenosyl triphosphatase activity nucleotide binding catalytic activity hydrolase activity protein binding ubiquitin protein ligase binding identical protein bindingCellular componentcytoplasm cytosol mitochondrion nucleus fibrillar center plasma membraneBiological processnegative regulation of proteasomal ubiquitin dependent protein catabolic process purine nucleotide metabolic process regulation of transcription DNA templated nucleotide metabolic process transcription DNA templated intrinsic apoptotic signaling pathway by p53 class mediator apoptotic processSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez227214198EnsemblENSG00000189283ENSMUSG00000060579UniProtP49789O89106RefSeq mRNA NM 001166243NM 002012NM 001320899NM 001320900NM 001320901NM 001354589NM 001354590NM 010210NM 001308285NM 001308286NM 001360141RefSeq protein NP 001159715NP 001307828NP 001307829NP 001307830NP 002003NP 001341518NP 001341519NP 001295214NP 001295215NP 034340NP 001347070Location UCSC Chr 3 59 75 61 25 MbChr 14 11 31 12 92 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Interactions 3 References 4 External linksFunction editFHIT is also known as human accelerated region 10 It may therefore have played a key role in differentiating humans from apes 7 This gene a member of the histidine triad gene family encodes a diadenosine P1 P3 bis 5 adenosyl triphosphate adenylohydrolase involved in purine metabolism The gene encompasses the common fragile site FRA3B on chromosome 3 where carcinogen induced damage can lead to translocations and aberrant transcripts of this gene In fact aberrant transcripts from this gene have been found in about half of all esophageal stomach and colon carcinomas 8 Though the exact molecular function of FHIT is still partially unclear the gene works as a tumor suppressor as it has been demonstrated in animal studies 9 10 11 Furthermore FHIT has been shown to synergize with VHL another tumor suppressor in protecting against chemically induced lung cancer 12 FHIT also acts as a tumor suppressor of HER2 neu driven breast cancer 13 Interactions editFHIT has been shown to interact with UBE2I 14 References edit a b c GRCh38 Ensembl release 89 ENSG00000189283 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000060579 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Ohta MH Cotticelli MG Kastury K Baffa R Palazzo J Siprashvili Z Mori M McCue P Druck T Croce CM Huebner K Apr 1996 The FHIT gene spanning the chromosome 3p14 2 fragile site and renal carcinoma associated t 3 8 breakpoint is abnormal in digestive tract cancers Cell 84 4 587 97 doi 10 1016 S0092 8674 00 81034 X PMID 8598045 S2CID 18792069 Pekarsky Y Campiglio M Siprashvili Z Druck T Sedkov Y Tillib S Draganescu A Wermuth P Rothman JH Huebner K Buchberg AM Mazo A Brenner C Croce CM Aug 1998 Nitrilase and Fhit homologs are encoded as fusion proteins in Drosophila melanogaster and Caenorhabditis elegans Proc Natl Acad Sci U S A 95 15 8744 9 Bibcode 1998PNAS 95 8744P doi 10 1073 pnas 95 15 8744 PMC 21147 PMID 9671749 Pollard KS Salama SR Lambert N Lambot MA Coppens S Pedersen JS Katzman S King B Onodera C Siepel A Kern AD Dehay C Igel H Ares M Vanderhaeghen P Haussler D 2006 08 16 An RNA gene expressed during cortical development evolved rapidly in humans PDF Nature 443 7108 167 72 Bibcode 2006Natur 443 167P doi 10 1038 nature05113 PMID 16915236 S2CID 18107797 supplement Entrez Gene FHIT fragile histidine triad gene Fong LY Fidanza V Zanesi N Lock LF Siracusa LD Mancini R Siprashvili Z Ottey M Martin SE Druck T McCue PA Croce CM Huebner K April 2000 Muir Torre like syndrome in Fhit deficient mice Proc Natl Acad Sci U S A 97 9 4742 7 Bibcode 2000PNAS 97 4742F doi 10 1073 pnas 080063497 PMC 18303 PMID 10758156 Zanesi N Fidanza V Fong LY Mancini R Druck T Valtieri M Rudiger T McCue PA Croce CM Huebner K August 2001 The tumor spectrum in FHIT deficient mice Proc Natl Acad Sci U S A 98 18 10250 5 Bibcode 2001PNAS 9810250Z doi 10 1073 pnas 191345898 PMC 56947 PMID 11517343 Zanesi N Pekarsky Y Croce CM December 2005 A mouse model of the fragile gene FHIT From carcinogenesis to gene therapy and cancer prevention Mutat Res 591 1 2 103 9 doi 10 1016 j mrfmmm 2005 05 016 PMID 16085127 Zanesi N Mancini R Sevignani C Vecchione A Kaou M Valtieri M Calin GA Pekarsky Y Gnarra JR Croce CM Huebner K August 2005 Lung cancer susceptibility in Fhit deficient mice is increased by Vhl haploinsufficiency Cancer Res 65 15 6576 82 doi 10 1158 0008 5472 CAN 05 1128 PMID 16061637 Bianchi F Tagliabue E Menard S Campiglio M March 2007 Fhit expression protects against HER2 driven breast tumor development unraveling the molecular interconnections Cell Cycle 6 6 643 6 doi 10 4161 cc 6 6 4033 hdl 2434 810034 PMID 17374991 Shi Y Zou M Farid NR Paterson MC December 2000 Association of FHIT fragile histidine triad a candidate tumour suppressor gene with the ubiquitin conjugating enzyme hUBC9 Biochem J 352 Pt 2 2 443 8 doi 10 1042 0264 6021 3520443 PMC 1221476 PMID 11085938 External links editOverview of all the structural information available in the PDB for UniProt P49789 Bis 5 adenosyl triphosphatase at the PDBe KB nbsp This article on a gene on human chromosome 3 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title FHIT amp oldid 1193566452, wikipedia, wiki, book, books, library,
