SHFM1

SEM1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSEM1, DSS1, ECD, SHFD1, SHSF1, Shfdg1, SHFM1, split hand/foot malformation (ectrodactyly) type 1
External IDsMGI: 109238 HomoloGene: 38165 GeneCards: SEM1
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

7979

20422

Ensembl

n/a

ENSMUSG00000042541

UniProt

P60896

P60897

RefSeq (mRNA)

NM_006304

NM_009169

RefSeq (protein)

NP_033195

Location (UCSC)n/aChr 6: 6.56 – 6.58 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

26S proteasome complex subunit DSS1 is a protein that in humans is encoded by the SHFM1 gene.[4][5][6]

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.[6]

Interactions

SHFM1 has been shown to interact with BRCA2.[7][8]

References

  1. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000042541 - Ensembl, May 2017
  2. ↑ "Human PubMed Reference:".
  3. ↑ "Mouse PubMed Reference:".
  4. ↑ 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.
  5. ↑ 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.
  6. 1 2 "Entrez Gene: SHFM1 split hand/foot malformation (ectrodactyly) type 1".
  7. ↑ 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. PMC 84261. PMID 10373512.
  8. ↑ 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. doi:10.1126/science.297.5588.1837. PMID 12228710.

Further reading

  • 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.
  • "Toward a complete human genome sequence". Genome Research. 8 (11): 1097–108. November 1998. 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. 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. 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. 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. doi:10.1038/nature04209. PMID 16189514.
  • 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.
  • 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.
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