SHFM1

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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
Identifiers
Symbols SHFM1 ; DSS1; ECD; SEM1; SHFD1; SHSF1; Shfdg1
External IDs OMIM183600 MGI109238 HomoloGene38165 GeneCards: SHFM1 Gene
RNA expression pattern
PBB GE SHFM1 202276 at tn.png
More reference expression data
Orthologs
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]

Interactions[edit]

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

References[edit]

  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. 

Further reading[edit]