SHFM1

SHFM1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1IYJ, 1MIU, 1MJE, 3T5X
Identifiers
Aliases	SHFM1, DSS1, ECD, SEM1, SHFD1, SHSF1, Shfdg1, split hand/foot malformation (ectrodactyly) type 1
External IDs	MGI: 109238 HomoloGene: 38165 GeneCards: SHFM1
Gene ontology Molecular function • protein binding Cellular component • integrator complex • proteasome complex • proteasome regulatory particle, lid subcomplex Biological process • mRNA export from nucleus • double-strand break repair via homologous recombination • proteolysis • proteasome assembly 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_006295.1	NP_033195.1
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]

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

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

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. 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.
4. 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.
5. "Entrez Gene: SHFM1 split hand/foot malformation (ectrodactyly) type 1".
6. 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.
7. 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.