SHFM1

Split hand/foot malformation (ectrodactyly) type 1
PDB rendering based on 1iyj.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 1IYJ​, 1MIU​, 1MJE​, 3T5X​
Identifiers
Symbols	SHFM1 ; DSS1; ECD; SEM1; SHFD1; SHSF1; Shfdg1
External IDs	OMIM: 601285 MGI: 109238 HomoloGene: 38165 GeneCards: SHFM1 Gene
Gene ontology Molecular function • protein binding Cellular component • proteasome complex • nucleus • integrator complex Biological process • double-strand break repair via homologous recombination • proteolysis Sources: Amigo / QuickGO
RNA expression pattern
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: 96.48 – 96.71 Mb	Chr 6: 6.56 – 6.58 Mb
PubMed search

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

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

References

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. "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

• Sharland M, Patton MA, Hill L (1991). "Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2". Am. J. Med. Genet. 39 (4): 413–414. doi:10.1002/ajmg.1320390410. PMID 1877619.
• "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. 1999. doi:10.1101/gr.8.11.1097. PMID 9847074.
• Jäntti J, Lahdenranta J, Olkkonen VM, et al. (1999). "SEM1, a homologue of the split hand/split foot malformation candidate gene Dss1, regulates exocytosis and pseudohyphal differentiation in yeast". Proc. Natl. Acad. Sci. U.S.A. 96 (3): 909–914. doi:10.1073/pnas.96.3.909. PMC 15324. PMID 9927667.
• Marston NJ, Richards WJ, Hughes D, et al. (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. 19 (7): 4633–42. PMC 84261. PMID 10373512.
• Yang H, Jeffrey PD, Miller J, et al. (2002). "BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure". Science 297 (5588): 1837–1848. doi:10.1126/science.297.5588.1837. PMID 12228710.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–16903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Scherer SW, Cheung J, MacDonald JR, et al. (2003). "Human chromosome 7: DNA sequence and biology". Science 300 (5620): 767–772. doi:10.1126/science.1083423. PMC 2882961. PMID 12690205.
• Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7". Nature 424 (6945): 157–164. doi:10.1038/nature01782. PMID 12853948.
• Sone T, Saeki Y, Toh-e A, Yokosawa H (2004). "Sem1p is a novel subunit of the 26 S proteasome from Saccharomyces cerevisiae". J. Biol. Chem. 279 (27): 28807–28816. doi:10.1074/jbc.M403165200. PMID 15117943.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–2127. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–1178. doi:10.1038/nature04209. PMID 16189514.
• Baillat D, Hakimi MA, Näär AM, et al. (2005). "Integrator, a multiprotein mediator of small nuclear RNA processing, associates with the C-terminal repeat of RNA polymerase II". Cell 123 (2): 265–276. doi:10.1016/j.cell.2005.08.019. PMID 16239144.
• Kharrat N, Ayadi I, Rebaï A (2007). "Sample size computation for association studies using case-parents design". J. Genet. 85 (3): 187–191. doi:10.1007/BF02935329. PMID 17406092.