SHFM1 explained

26S proteasome complex subunit DSS1 is a protein that in humans is encoded by the SHFM1 gene.^{[1] [2] [3]}

Function

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.^[3]

Interactions

SHFM1 has been shown to interact with BRCA2.^{[4] [5]}

Further reading

• Sharland M, Patton MA, Hill L . Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2 . American Journal of Medical Genetics . 39 . 4 . 413–4 . June 1991 . 1877619 . 10.1002/ajmg.1320390410 .
• Toward a complete human genome sequence . Genome Research . 8 . 11 . 1097–108 . November 1998 . 9847074 . 10.1101/gr.8.11.1097 . free . Sanger Centre . The . Washington University Genome Sequencing Cente . The .
• Jäntti J, Lahdenranta J, Olkkonen VM, Söderlund H, Keränen S . 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 . February 1999 . 9927667 . 15324 . 10.1073/pnas.96.3.909 . 1999PNAS...96..909J . free .
• Marston NJ, Richards WJ, Hughes D, Bertwistle D, Marshall CJ, Ashworth A . 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 . July 1999 . 10373512 . 84261 . 10.1128/mcb.19.7.4633.
• Yang H, Jeffrey PD, Miller J, Kinnucan E, Sun Y, Thoma NH, Zheng N, Chen PL, Lee WH, Pavletich NP . BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure . Science . 297 . 5588 . 1837–48 . September 2002 . 12228710 . 10.1126/science.297.5588.1837 . 2002Sci...297.1837Y .
• Sone T, Saeki Y, Toh-e A, Yokosawa H . Sem1p is a novel subunit of the 26 S proteasome from Saccharomyces cerevisiae . The Journal of Biological Chemistry . 279 . 27 . 28807–16 . July 2004 . 15117943 . 10.1074/jbc.M403165200 . free .
• 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 . Towards a proteome-scale map of the human protein-protein interaction network . Nature . 437 . 7062 . 1173–8 . October 2005 . 16189514 . 10.1038/nature04209 . 2005Natur.437.1173R . 4427026 .
• Baillat D, Hakimi MA, Näär AM, Shilatifard A, Cooch N, Shiekhattar R . Integrator, a multiprotein mediator of small nuclear RNA processing, associates with the C-terminal repeat of RNA polymerase II . Cell . 123 . 2 . 265–76 . October 2005 . 16239144 . 10.1016/j.cell.2005.08.019 . 18069461 . free .
• Kharrat N, Ayadi I, Rebaï A . Sample size computation for association studies using case-parents design . Journal of Genetics . 85 . 3 . 187–91 . December 2006 . 17406092 . 10.1007/BF02935329 . 666139 .

Notes and References

1. Roberts SH, Hughes HE, Davies SJ, Meredith AL . 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 . July 1991 . 1895319 . 1016960 . 10.1136/jmg.28.7.479 .
2. Crackower MA, Scherer SW, Rommens JM, Hui CC, Poorkaj P, Soder S, Cobben JM, Hudgins L, Evans JP, Tsui LC . 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 . May 1996 . 8733122 . 10.1093/hmg/5.5.571 . free .
3. Web site: Entrez Gene: SHFM1 split hand/foot malformation (ectrodactyly) type 1.
4. Marston NJ, Richards WJ, Hughes D, Bertwistle D, Marshall CJ, Ashworth A . 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 . July 1999 . 10373512 . 84261 . 10.1128/mcb.19.7.4633.
5. Yang H, Jeffrey PD, Miller J, Kinnucan E, Sun Y, Thoma NH, Zheng N, Chen PL, Lee WH, Pavletich NP . BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure . Science . 297 . 5588 . 1837–48 . September 2002 . 12228710 . 10.1126/science.297.5588.1837 . 2002Sci...297.1837Y .