SHFM1

From Wikipedia, the free encyclopedia

Split hand/foot malformation (ectrodactyly) type 1

PDB rendering based on 1iyj.

Available structures: 1iyj, 1miu, 1mje

Identifiers

Symbol(s)

SHFM1; DSS1; ECD; SEM1; SHFD1; SHSF1; Shfdg1

External IDs

OMIM: 183600 MGI: 109238 HomoloGene: 38165

Gene ontology
Molecular Function:	• protein binding • peptidase activity
Cellular Component:	• proteasome complex (sensu Eukaryota) • cytosol • integrator complex
Biological Process:	• double-strand break repair via homologous recombination • proteolysis

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_006304 (mRNA)
NP_006295 (protein)

NM_009169 (mRNA)
NP_033195 (protein)

Location

Chr 7: 96.16 - 96.18 Mb

Chr 6: 6.51 - 6.53 Mb

Pubmed search

[1]

[2]

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

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: SHFM1 split hand/foot malformation (ectrodactyly) type 1.

[edit] 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.
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.
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.
"Toward a complete human genome sequence." (1999). Genome Res. 8 (11): 1097-108. 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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.