SHFM1

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SEM1
Protein SHFM1 PDB 1iyj.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases SEM1, DSS1, ECD, SHFD1, SHSF1, Shfdg1, SHFM1, split hand/foot malformation (ectrodactyly) type 1
External IDs MGI: 109238 HomoloGene: 38165 GeneCards: SEM1
RNA expression pattern
PBB GE SHFM1 202276 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006304

NM_009169

RefSeq (protein)

NP_006295

NP_033195.1
NP_033195

Location (UCSC) Chr 7: 96.48 – 96.71 Mb Chr 6: 6.56 – 6.58 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

26S proteasome complex subunit DSS1 is a protein that in humans is encoded by the SHFM1 gene.[3][4][5]

Function[edit]

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.[5]

Interactions[edit]

SHFM1 has been shown to interact with BRCA2.[6][7]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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 1016960Freely accessible. PMID 1895319. 
  4. ^ 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. 
  5. ^ a b "Entrez Gene: SHFM1 split hand/foot malformation (ectrodactyly) type 1". 
  6. ^ 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 84261Freely accessible. PMID 10373512. 
  7. ^ 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[edit]