SHFM1

Split hand/foot malformation (ectrodactyly) type 1
File:PBB Protein SHFM1 image.jpg PDB rendering based on 1iyj.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1iyj​, 1miu​, 1mje​
Identifiers
Symbols	SHFM1 ; DSS1; ECD; SEM1; SHFD1; SHSF1; Shfdg1
External IDs	Template:OMIM5 Template:MGI HomoloGene: 38165
Gene ontology Molecular function Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE SHFM1 202276 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Split hand/foot malformation (ectrodactyly) type 1, also known as SHFM1, is a human gene.

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.

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): 413–4. doi:10.1002/ajmg.1320390410. PMID 1877619.CS1 maint: Multiple names: authors list (link)
• Roberts SH, Hughes HE, Davies SJ, Meredith AL (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): 479–81. PMID 1895319.CS1 maint: Multiple names: authors list (link)
• Crackower MA, Scherer SW, Rommens JM; et al. (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): 571–9. PMID 8733122.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. 1999. 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): 909–14. PMID 9927667.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 10373512.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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): 1837–48. doi:10.1126/science.297.5588.1837. PMID 12228710.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Scherer SW, Cheung J, MacDonald JR; et al. (2003). "Human chromosome 7: DNA sequence and biology". Science. 300 (5620): 767–72. doi:10.1126/science.1083423. PMID 12690205.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hillier LW, Fulton RS, Fulton LA; et al. (2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157–64. doi:10.1038/nature01782. PMID 12853948.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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): 28807–16. doi:10.1074/jbc.M403165200. PMID 15117943.CS1 maint: Multiple names: authors list (link)
• 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): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Rual JF, Venkatesan K, Hao T; et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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): 265–76. doi:10.1016/j.cell.2005.08.019. PMID 16239144.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kharrat N, Ayadi I, Rebaï A (2007). "Sample size computation for association studies using case-parents design". J. Genet. 85 (3): 187–91. PMID 17406092.CS1 maint: Multiple names: authors list (link)