SHFM1

Gene

Symbol	–
HGNC ID	–
Alternative symbols	–
Entrez Gene	–
OMIM	–
RefSeq	–
UniProt	–
Chromosome	–
Locus supplementary data	–

26S proteasome complex subunit DSS1 is a protein that in humans is encoded by the SHFM1 gene.<ref name="pmid1895319">,

 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,</ref><ref name="pmid8733122">, 
 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,</ref><ref name="entrez">

Entrez Gene: SHFM1 split hand/foot malformation (ectrodactyly) type 1(link). {{{website}}}.

</ref>

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.<ref name="entrez"/>

Interactions

SHFM1 has been shown to interact with BRCA2.<ref name=pmid10373512>,

 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,</ref><ref name=pmid12228710>, 
 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,</ref>

Further reading

• ,

 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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