SHFM1
26S proteasome complex subunit DSS1 is a protein that in humans is encoded by the SHFM1 gene.[1][2][3]
Function[edit | edit source]
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[edit | edit source]
SHFM1 has been shown to interact with BRCA2.[4][5]
References[edit | edit source]
- ↑ , Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3, Journal of Medical Genetics, Vol. 28(Issue: 7), pp. 479–81, DOI: 10.1136/jmg.28.7.479, PMID: 1895319, PMC: 1016960,
- ↑ , 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, Vol. 5(Issue: 5), pp. 571–9, DOI: 10.1093/hmg/5.5.571, PMID: 8733122,
- ↑ 3.0 3.1 Entrez Gene: SHFM1 split hand/foot malformation (ectrodactyly) type 1 Full text, ,
- ↑ , 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, Vol. 19(Issue: 7), pp. 4633–42, DOI: 10.1128/mcb.19.7.4633, PMID: 10373512, PMC: 84261,
- ↑ , BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure, Science, Vol. 297(Issue: 5588), pp. 1837–48, DOI: 10.1126/science.297.5588.1837, PMID: 12228710,
Further reading[edit | edit source]
,
Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2, American Journal of Medical Genetics, Vol. 39(Issue: 4), pp. 413–4, DOI: 10.1002/ajmg.1320390410, PMID: 1877619,
,
Toward a complete human genome sequence, Genome Research, Vol. 8(Issue: 11), pp. 1097–108, DOI: 10.1101/gr.8.11.1097, PMID: 9847074,
,
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, Vol. 96(Issue: 3), pp. 909–14, DOI: 10.1073/pnas.96.3.909, PMID: 9927667, PMC: 15324,
,
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, Vol. 19(Issue: 7), pp. 4633–42, DOI: 10.1128/mcb.19.7.4633, PMID: 10373512, PMC: 84261,
,
BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure, Science, Vol. 297(Issue: 5588), pp. 1837–48, DOI: 10.1126/science.297.5588.1837, PMID: 12228710,
,
Sem1p is a novel subunit of the 26 S proteasome from Saccharomyces cerevisiae, The Journal of Biological Chemistry, Vol. 279(Issue: 27), pp. 28807–16, DOI: 10.1074/jbc.M403165200, PMID: 15117943,
,
Towards a proteome-scale map of the human protein-protein interaction network, Nature, Vol. 437(Issue: 7062), pp. 1173–8, DOI: 10.1038/nature04209, PMID: 16189514,
,
Integrator, a multiprotein mediator of small nuclear RNA processing, associates with the C-terminal repeat of RNA polymerase II, Cell, Vol. 123(Issue: 2), pp. 265–76, DOI: 10.1016/j.cell.2005.08.019, PMID: 16239144,
,
Sample size computation for association studies using case-parents design, Journal of Genetics, Vol. 85(Issue: 3), pp. 187–91, DOI: 10.1007/BF02935329, PMID: 17406092,
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