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Split hand/foot malformation (ectrodactyly) type 1
Protein SHFM1 PDB 1iyj.png
PDB rendering based on 1iyj.
Available structures
PDB Ortholog search: PDBe, RCSB
Symbols SHFM1 ; DSS1; ECD; SEM1; SHFD1; SHSF1; Shfdg1
External IDs OMIM601285 MGI109238 HomoloGene38165 GeneCards: SHFM1 Gene
RNA expression pattern
PBB GE SHFM1 202276 at tn.png
More reference expression data
Species Human Mouse
Entrez 7979 20422
Ensembl ENSG00000127922 ENSMUSG00000042541
UniProt P60896 P60897
RefSeq (mRNA) NM_006304 NM_009169
RefSeq (protein) NP_006295 NP_033195
Location (UCSC) Chr 7:
96.11 – 96.34 Mb
Chr 6:
6.56 – 6.58 Mb
PubMed search [1] [2]

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

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]


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


  1. ^ Roberts SH, Hughes HE, Davies SJ, Meredith AL (October 1991). "Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3". J Med Genet 28 (7): 479–481. doi:10.1136/jmg.28.7.479. PMC 1016960. PMID 1895319. 
  2. ^ Crackower MA, Scherer SW, Rommens JM, Hui CC, Poorkaj P, Soder S, Cobben JM, Hudgins L, Evans JP, Tsui LC (June 1997). "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". Hum Mol Genet 5 (5): 571–579. doi:10.1093/hmg/5.5.571. PMID 8733122. 
  3. ^ a b "Entrez Gene: SHFM1 split hand/foot malformation (ectrodactyly) type 1". 
  4. ^ Marston, N J; Richards W J; Hughes D; Bertwistle D; Marshall C J; 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". Mol. Cell. Biol. (UNITED STATES) 19 (7): 4633–42. ISSN 0270-7306. PMC 84261. PMID 10373512. 
  5. ^ Yang, Haijuan; Jeffrey Philip D; Miller Julie; Kinnucan Elspeth; Sun Yutong; Thoma Nicolas H; Zheng Ning; Chen Phang-Lang; Lee Wen-Hwa; Pavletich Nikola P (September 2002). "BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure". Science (United States) 297 (5588): 1837–1848. doi:10.1126/science.297.5588.1837. PMID 12228710. 

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