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    SEM1 SEM1 26S proteasome subunit [ Homo sapiens (human) ]

    Gene ID: 7979, updated on 17-Sep-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    DSS1 restrains BRCA2's engagement with dsDNA for homologous recombination, replication fork protection, and R-loop homeostasis.

    DSS1 restrains BRCA2's engagement with dsDNA for homologous recombination, replication fork protection, and R-loop homeostasis.
    Huang Y, Li W, Foo T, Ji JH, Wu B, Tomimatsu N, Fang Q, Gao B, Long M, Xu J, Maqbool R, Mukherjee B, Ni T, Alejo S, He Y, Burma S, Lan L, Xia B, Zhao W., Free PMC Article

    08/22/2024
    SEM1 promotes tumor progression of glioblastoma via activating the akt signaling pathway.

    SEM1 promotes tumor progression of glioblastoma via activating the akt signaling pathway.
    Li C, Chen B, Zhang J, Yang J, Guo M, Ren Y, Zhou Z, Fung KM, Li M, Zhang L, Liu Z.

    11/6/2023
    The disordered PCI-binding human proteins CSNAP and DSS1 have diverged in structure and function.

    The disordered PCI-binding human proteins CSNAP and DSS1 have diverged in structure and function.
    Ruidiaz SF, Dreier JE, Hartmann-Petersen R, Kragelund BB., Free PMC Article

    12/25/2021
    Increased chemosensitivity via BRCA2-independent DNA damage in DSS1- and PCID2-depleted breast carcinomas.

    Increased chemosensitivity via BRCA2-independent DNA damage in DSS1- and PCID2-depleted breast carcinomas.
    Gondo N, Sakai Y, Zhang Z, Hato Y, Kuzushima K, Phimsen S, Kawashima Y, Kuroda M, Suzuki M, Okada S, Iwata H, Toyama T, Rezano A, Kuwahara K.

    09/4/2021
    Cancer-causing BRCA2 missense mutations disrupt an intracellular protein assembly mechanism to disable genome maintenance.

    Cancer-causing BRCA2 missense mutations disrupt an intracellular protein assembly mechanism to disable genome maintenance.
    Lee M, Shorthouse D, Mahen R, Hall BA, Venkitaraman AR., Free PMC Article

    07/10/2021
    DSS1 allosterically regulates the conformation of the tower domain of BRCA2 that has dsDNA binding specificity for homologous recombination.

    DSS1 allosterically regulates the conformation of the tower domain of BRCA2 that has dsDNA binding specificity for homologous recombination.
    Alagar S, Bahadur RP.

    04/13/2021
    DSS1 and ssDNA regulate oligomerization of BRCA2.

    DSS1 and ssDNA regulate oligomerization of BRCA2.
    Le HP, Ma X, Vaquero J, Brinkmeyer M, Guo F, Heyer WD, Liu J., Free PMC Article

    09/26/2020
    Our work introduces for the first time RAD52 as another interacting partner of DSS1 and shows that both proteins are important players in the SSA and BIR pathways of DSB repair.

    DSS1 interacts with and stimulates RAD52 to promote the repair of DSBs.
    Stefanovie B, Hengel SR, Mlcouskova J, Prochazkova J, Spirek M, Nikulenkov F, Nemecek D, Koch BG, Bain FE, Yu L, Spies M, Krejci L., Free PMC Article

    03/21/2020
    Promoter methylation plays a role in modulating DSS1 gene expression. Promoter hypomethylation is a frequent event in melanoma and squamous cell carcinoma and is closely linked to poor prognosis.

    DSS1 promoter hypomethylation and overexpression predict poor prognosis in melanoma and squamous cell carcinoma patients.
    Venza M, Visalli M, Catalano T, Beninati C, Teti D, Venza I.

    09/2/2017
    DSS1 is a multifunctional and intrinsically disordered protein. (Review)

    DSS1/Sem1, a Multifunctional and Intrinsically Disordered Protein.
    Kragelund BB, Schenstrøm SM, Rebula CA, Panse VG, Hartmann-Petersen R.

    08/5/2017
    three phenotypic subregions within the SHFM1 locus link both size and genomic position of the chromosomal aberrations to the clinical variability seen in SHFM1 patients

    Phenotypic subregions within the split-hand/foot malformation 1 locus.
    Rasmussen MB, Kreiborg S, Jensen P, Bak M, Mang Y, Lodahl M, Budtz-Jørgensen E, Tommerup N, Tranebjærg L, Rendtorff ND.

    07/16/2016
    SHFM1 confers cell cycle progression and resistance to p53 stabilizing drugs in gastric cancer cells.

    Upregulated, 7q21-22 amplicon candidate gene SHFM1 confers oncogenic advantage by suppressing p53 function in gastric cancer.
    Tamilzhalagan S, Muthuswami M, Periasamy J, Lee MH, Rha SY, Tan P, Ganesan K.

    12/26/2015
    by targeting RPA and mimicking DNA, DSS1 functions with BRCA2 in a two-component homologous recombination mediator complex in genome maintenance and tumor suppression

    Promotion of BRCA2-Dependent Homologous Recombination by DSS1 via RPA Targeting and DNA Mimicry.
    Zhao W, Vaithiyalingam S, San Filippo J, Maranon DG, Jimenez-Sainz J, Fontenay GV, Kwon Y, Leung SG, Lu L, Jensen RB, Chazin WJ, Wiese C, Sung P., Free PMC Article

    10/17/2015
    Breast cancers with high DSS1 expression have worse prognosis and shorter relapse-free survival times.

    Breast cancers with high DSS1 expression that potentially maintains BRCA2 stability have poor prognosis in the relapse-free survival.
    Rezano A, Kuwahara K, Yamamoto-Ibusuki M, Kitabatake M, Moolthiya P, Phimsen S, Suda T, Tone S, Yamamoto Y, Iwase H, Sakaguchi N., Free PMC Article

    03/22/2014
    Mutation screening of the SHFM1 gene in familial breast/ovarian cancer cases.

    Mutation analysis of the SHFM1 gene in breast/ovarian cancer families.
    Bonache S, de la Hoya M, Gutierrez-Enriquez S, Tenés A, Masas M, Balmaña J, Diez O.

    04/20/2013
    DSS1 protein is critically involved in the maintenance of the transformed phenotype in cervical cancer cells, and that it might be a specific, robust and reliable marker for early detection, diagnosis and trea

    Identification of the deleted in split hand/split foot 1 protein as a novel biomarker for human cervical cancer.
    Ma YY, Lin H, Chang FM, Chang TC, Trieu T, Pridgen HI, Zhang Y, Huang J, Patiño-Guzman K, Diab N, Cantu A, Slaga TJ, Wei SJ.

    03/2/2013
    DSS1 has a role in homologous recombinational repair in human cells

    Depletion of DSS1 protein disables homologous recombinational repair in human cells.
    Kristensen CN, Bystol KM, Li B, Serrano L, Brenneman MA.

    02/5/2011
    p63 binds to an enhancer element in the SHFM1 locus and this element controls expression of DLX6 and DLX5 which are important for limb development.

    Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.
    Kouwenhoven EN, van Heeringen SJ, Tena JJ, Oti M, Dutilh BE, Alonso ME, de la Calle-Mustienes E, Smeenk L, Rinne T, Parsaulian L, Bolat E, Jurgelenaite R, Huynen MA, Hoischen A, Veltman JA, Brunner HG, Roscioli T, Oates E, Wilson M, Manzanares M, Gómez-Skarmeta JL, Stunnenberg HG, Lohrum M, van Bokhoven H, Zhou H., Free PMC Article

    01/1/2011
    Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)

    Gamma-radiation sensitivity and polymorphisms in RAD51L1 modulate glioma risk.
    Liu Y, Shete S, Wang LE, El-Zein R, Etzel CJ, Liang FW, Armstrong G, Tsavachidis S, Gilbert MR, Aldape KD, Xing J, Wu X, Wei Q, Bondy ML., Free PMC Article

    09/15/2010
    The DSS1 c.143G>A variant is associated with reduced DSS1 expression at RNA and protein levels and altered traffic of the DSS1 protein from the cytoplasm to the nucleus. These alterations could impair DSS1 function and may be implicated in skin cancer.

    Association of the DSS1 c.143G>A polymorphism with skin squamous cell carcinoma.
    Venza M, Catalano T, Visalli M, Venza I, Lentini M, Curia MC, Mariani-Costantini R, Teti D, Venza M, Catalano T, Visalli M, Venza I, Lentini M, Curia MC, Mariani-Costantini R, Teti D.

    06/28/2010
    Data suggest that the R3IM motif of DSS1, in conjunction with the complexes of 19S RP and 20S core particle, regulates proteasome interaction through RPN3/S3 molecule, and utilizes a specific subset of poly-ubiquitinated p53 as a substrate.

    Identification of a specific motif of the DSS1 protein required for proteasome interaction and p53 protein degradation.
    Wei SJ, Williams JG, Dang H, Darden TA, Betz BL, Humble MM, Chang FM, Trempus CS, Johnson K, Cannon RE, Tennant RW.

    01/21/2010
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (3) articles

    Association of the DSS1 c.143G>A polymorphism with skin squamous cell carcinoma.
    Venza M, Catalano T, Visalli M, Venza I, Lentini M, Curia MC, Mariani-Costantini R, Teti D, Venza M, Catalano T, Visalli M, Venza I, Lentini M, Curia MC, Mariani-Costantini R, Teti D.

    Polymorphic variants in hereditary pancreatic cancer genes are not associated with pancreatic cancer risk.
    McWilliams RR, Bamlet WR, de Andrade M, Rider DN, Couch FJ, Cunningham JM, Matsumoto ME, Rabe KG, Hammer TJ, Petersen GM.

    Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study.
    Vega A, Salas A, Milne RL, Carracedo B, Ribas G, Ruibal A, de León AC, González-Hernández A, Benítez J, Carracedo A.

    11/5/2008
    Observational study and meta-analysis of gene-disease association. (HuGE Navigator)

    Comprehensive analysis of DNA repair gene variants and risk of meningioma.
    Bethke L, Murray A, Webb E, Schoemaker M, Muir K, McKinney P, Hepworth S, Dimitropoulou P, Lophatananon A, Feychting M, Lönn S, Ahlbom A, Malmer B, Henriksson R, Auvinen A, Kiuru A, Salminen T, Johansen C, Christensen HC, Kosteljanetz M, Swerdlow A, Houlston R.

    04/3/2008
    Observational study of genotype prevalence. (HuGE Navigator)

    Mutations in the BRCA2 interacting DSS1 are not a risk factor for male breast cancer.
    Syrjäkoski K, Jäntti J, Kallioniemi A, Karhu R.

    03/13/2008
    DSS1 has been shown to interact with components of the 26S proteasome in Saccharomyces cerevisiae and in human tumour cells

    The proteasome is involved in determining differential utilization of double-strand break repair pathways.
    Gudmundsdottir K, Lord CJ, Ashworth A.

    01/21/2010
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