The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle.[6]
^ abcGRCm38: Ensembl release 89: ENSMUSG00000042541 – 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.
^Roberts SH, Hughes HE, Davies SJ, Meredith AL (July 1991). "Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3". Journal of Medical Genetics. 28 (7): 479–81. doi:10.1136/jmg.28.7.479. PMC1016960. PMID 1895319.
^Crackower MA, Scherer SW, Rommens JM, Hui CC, Poorkaj P, Soder S, Cobben JM, Hudgins L, Evans JP, Tsui LC (May 1996). "Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development". Human Molecular Genetics. 5 (5): 571–9. doi:10.1093/hmg/5.5.571. PMID 8733122.
^ ab"Entrez Gene: SHFM1 split hand/foot malformation (ectrodactyly) type 1".
^Marston NJ, Richards WJ, Hughes D, Bertwistle D, Marshall CJ, Ashworth A (July 1999). "Interaction between the product of the breast cancer susceptibility gene BRCA2 and DSS1, a protein functionally conserved from yeast to mammals". Molecular and Cellular Biology. 19 (7): 4633–42. doi:10.1128/mcb.19.7.4633. PMC84261. PMID 10373512.
^Yang H, Jeffrey PD, Miller J, Kinnucan E, Sun Y, Thoma NH, Zheng N, Chen PL, Lee WH, Pavletich NP (September 2002). "BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure". Science. 297 (5588): 1837–48. Bibcode:2002Sci...297.1837Y. doi:10.1126/science.297.5588.1837. PMID 12228710.
Further readingedit
Sharland M, Patton MA, Hill L (June 1991). "Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2". American Journal of Medical Genetics. 39 (4): 413–4. doi:10.1002/ajmg.1320390410. PMID 1877619.
Sanger Centre, The; Washington University Genome Sequencing Cente, The (November 1998). "Toward a complete human genome sequence". Genome Research. 8 (11): 1097–108. doi:10.1101/gr.8.11.1097. PMID 9847074.
Jäntti J, Lahdenranta J, Olkkonen VM, Söderlund H, Keränen S (February 1999). "SEM1, a homologue of the split hand/split foot malformation candidate gene Dss1, regulates exocytosis and pseudohyphal differentiation in yeast". Proceedings of the National Academy of Sciences of the United States of America. 96 (3): 909–14. Bibcode:1999PNAS...96..909J. doi:10.1073/pnas.96.3.909. PMC15324. PMID 9927667.
Marston NJ, Richards WJ, Hughes D, Bertwistle D, Marshall CJ, Ashworth A (July 1999). "Interaction between the product of the breast cancer susceptibility gene BRCA2 and DSS1, a protein functionally conserved from yeast to mammals". Molecular and Cellular Biology. 19 (7): 4633–42. doi:10.1128/mcb.19.7.4633. PMC84261. PMID 10373512.
Yang H, Jeffrey PD, Miller J, Kinnucan E, Sun Y, Thoma NH, Zheng N, Chen PL, Lee WH, Pavletich NP (September 2002). "BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure". Science. 297 (5588): 1837–48. Bibcode:2002Sci...297.1837Y. doi:10.1126/science.297.5588.1837. PMID 12228710.
Sone T, Saeki Y, Toh-e A, Yokosawa H (July 2004). "Sem1p is a novel subunit of the 26 S proteasome from Saccharomyces cerevisiae". The Journal of Biological Chemistry. 279 (27): 28807–16. doi:10.1074/jbc.M403165200. PMID 15117943.
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.
Baillat D, Hakimi MA, Näär AM, Shilatifard A, Cooch N, Shiekhattar R (October 2005). "Integrator, a multiprotein mediator of small nuclear RNA processing, associates with the C-terminal repeat of RNA polymerase II". Cell. 123 (2): 265–76. doi:10.1016/j.cell.2005.08.019. PMID 16239144. S2CID 18069461.
Kharrat N, Ayadi I, Rebaï A (December 2006). "Sample size computation for association studies using case-parents design". Journal of Genetics. 85 (3): 187–91. doi:10.1007/BF02935329. PMID 17406092. S2CID 666139.
This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by expanding it.
shfm1, proteasome, complex, subunit, dss1, protein, that, humans, encoded, gene, sem1available, structurespdbortholog, search, pdbe, rcsblist, codes1iyj, 1miu, 1mje, 3t5xidentifiersaliasessem1, dss1, shfd1, shsf1, shfdg1, split, hand, foot, malformation, ectro. 26S proteasome complex subunit DSS1 is a protein that in humans is encoded by the SHFM1 gene 4 5 6 SEM1Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes1IYJ 1MIU 1MJE 3T5XIdentifiersAliasesSEM1 DSS1 ECD SHFD1 SHSF1 Shfdg1 SHFM1 split hand foot malformation ectrodactyly type 1External IDsOMIM 601285 MGI 109238 HomoloGene 38165 GeneCards SEM1Gene location Mouse Chr Chromosome 6 mouse 1 Band6 6 A1Start6 557 294 bp 1 End6 578 663 bp 1 RNA expression patternBgeeHumanMouse ortholog n aTop expressed inmaxillary prominencemedullary collecting ductbody of femurmedial ganglionic eminencehair follicleprimitive streakabdominal walldermiscervixvas deferensBioGPSMore reference expression dataGene ontologyMolecular functionprotein bindingCellular componentintegrator complex proteasome complex proteasome regulatory particle lid subcomplex nucleoplasm cytosolBiological processmRNA export from nucleus proteasome assembly protein deubiquitination post translational protein modification double strand break repair via homologous recombination MAPK cascade protein polyubiquitination stimulatory C type lectin receptor signaling pathway antigen processing and presentation of exogenous peptide antigen via MHC class I TAP dependent regulation of cellular amino acid metabolic process negative regulation of G2 M transition of mitotic cell cycle anaphase promoting complex dependent catabolic process SCF dependent proteasomal ubiquitin dependent protein catabolic process tumor necrosis factor mediated signaling pathway NIK NF kappaB signaling Fc epsilon receptor signaling pathway proteasome mediated ubiquitin dependent protein catabolic process regulation of mRNA stability T cell receptor signaling pathway transmembrane transport Wnt signaling pathway planar cell polarity pathway regulation of transcription from RNA polymerase II promoter in response to hypoxia interleukin 1 mediated signaling pathway negative regulation of canonical Wnt signaling pathway positive regulation of canonical Wnt signaling pathway regulation of mitotic cell cycle phase transition regulation of hematopoietic stem cell differentiationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez797920422EnsemblENSG00000127922ENSMUSG00000042541UniProtP60896Q6ZVN7P60897RefSeq mRNA NM 006304NM 009169RefSeq protein NP 006295NP 001188379NP 001188380NP 001336627NP 001336629NP 001336630NP 001336631NP 006295NP 033195Location UCSC n aChr 6 6 56 6 58 MbPubMed search 2 3 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Interactions 3 References 4 Further readingFunction editThe product of this gene has been localized within the split hand split foot malformation locus SHFM1 at chromosome 7 It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand split foot malformation type 1 In addition it has been shown to directly interact with BRCA2 It also may play a role in the completion of the cell cycle 6 Interactions editSHFM1 has been shown to interact with BRCA2 7 8 References edit a b c GRCm38 Ensembl release 89 ENSMUSG00000042541 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 Roberts SH Hughes HE Davies SJ Meredith AL July 1991 Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21 3 Journal of Medical Genetics 28 7 479 81 doi 10 1136 jmg 28 7 479 PMC 1016960 PMID 1895319 Crackower MA Scherer SW Rommens JM Hui CC Poorkaj P Soder S Cobben JM Hudgins L Evans JP Tsui LC May 1996 Characterization of the split hand split foot malformation locus SHFM1 at 7q21 3 q22 1 and analysis of a candidate gene for its expression during limb development Human Molecular Genetics 5 5 571 9 doi 10 1093 hmg 5 5 571 PMID 8733122 a b Entrez Gene SHFM1 split hand foot malformation ectrodactyly type 1 Marston NJ Richards WJ Hughes D Bertwistle D Marshall CJ Ashworth A July 1999 Interaction between the product of the breast cancer susceptibility gene BRCA2 and DSS1 a protein functionally conserved from yeast to mammals Molecular and Cellular Biology 19 7 4633 42 doi 10 1128 mcb 19 7 4633 PMC 84261 PMID 10373512 Yang H Jeffrey PD Miller J Kinnucan E Sun Y Thoma NH Zheng N Chen PL Lee WH Pavletich NP September 2002 BRCA2 function in DNA binding and recombination from a BRCA2 DSS1 ssDNA structure Science 297 5588 1837 48 Bibcode 2002Sci 297 1837Y doi 10 1126 science 297 5588 1837 PMID 12228710 Further reading editSharland M Patton MA Hill L June 1991 Ectrodactyly of hands and feet in a child with a complex translocation including 7q21 2 American Journal of Medical Genetics 39 4 413 4 doi 10 1002 ajmg 1320390410 PMID 1877619 Sanger Centre The Washington University Genome Sequencing Cente The November 1998 Toward a complete human genome sequence Genome Research 8 11 1097 108 doi 10 1101 gr 8 11 1097 PMID 9847074 Jantti J Lahdenranta J Olkkonen VM Soderlund H Keranen S February 1999 SEM1 a homologue of the split hand split foot malformation candidate gene Dss1 regulates exocytosis and pseudohyphal differentiation in yeast Proceedings of the National Academy of Sciences of the United States of America 96 3 909 14 Bibcode 1999PNAS 96 909J doi 10 1073 pnas 96 3 909 PMC 15324 PMID 9927667 Marston NJ Richards WJ Hughes D Bertwistle D Marshall CJ Ashworth A July 1999 Interaction between the product of the breast cancer susceptibility gene BRCA2 and DSS1 a protein functionally conserved from yeast to mammals Molecular and Cellular Biology 19 7 4633 42 doi 10 1128 mcb 19 7 4633 PMC 84261 PMID 10373512 Yang H Jeffrey PD Miller J Kinnucan E Sun Y Thoma NH Zheng N Chen PL Lee WH Pavletich NP September 2002 BRCA2 function in DNA binding and recombination from a BRCA2 DSS1 ssDNA structure Science 297 5588 1837 48 Bibcode 2002Sci 297 1837Y doi 10 1126 science 297 5588 1837 PMID 12228710 Sone T Saeki Y Toh e A Yokosawa H July 2004 Sem1p is a novel subunit of the 26 S proteasome from Saccharomyces cerevisiae The Journal of Biological Chemistry 279 27 28807 16 doi 10 1074 jbc M403165200 PMID 15117943 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 Baillat D Hakimi MA Naar AM Shilatifard A Cooch N Shiekhattar R October 2005 Integrator a multiprotein mediator of small nuclear RNA processing associates with the C terminal repeat of RNA polymerase II Cell 123 2 265 76 doi 10 1016 j cell 2005 08 019 PMID 16239144 S2CID 18069461 Kharrat N Ayadi I Rebai A December 2006 Sample size computation for association studies using case parents design Journal of Genetics 85 3 187 91 doi 10 1007 BF02935329 PMID 17406092 S2CID 666139 nbsp This article on a gene on human chromosome 7 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title SHFM1 amp oldid 1079519966, wikipedia, wiki, book, books, library,
