Difference between revisions of "YLR132C"
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− | '''Description of YLR132C:''' | + | '''Description of YLR132C:''' Putative phosphodiesterase specific for U6 snRNA 3' end modification; trims the 3' poly(u) tract to leave a terminal 3' phosphate; human homolog, hUSB1 (aka C16orf57) produces a 2',3' cyclic phosphate; mutations in hUSB1 are associated with a rare skin condition (OMIM 604173); essential protein that localizes to the nucleus and mitochondria; overexpression suppresses the respiratory defects of oxa1 and mtf2 mutants<ref name='S000071347'>Giaever G, et al. (2002) Functional profiling of the Saccharomyces cerevisiae genome. Nature 418(6896):387-91 {{SGDpaper|S000071347}} PMID 12140549</ref><ref name='S000147215'>Glatigny A, et al. (2011) An in silico approach combined with in vivo experiments enables the identification of a new protein whose overexpression can compensate for specific respiratory defects in Saccharomyces cerevisiae. BMC Syst Biol 5(1):173 {{SGDpaper|S000147215}} PMID 22027258</ref><ref name='S000075214'>Hazbun TR, et al. (2003) Assigning function to yeast proteins by integration of technologies. Mol Cell 12(6):1353-65 {{SGDpaper|S000075214}} PMID 14690591</ref><ref name='S000074185'>Huh WK, et al. (2003) Global analysis of protein localization in budding yeast. Nature 425(6959):686-91 {{SGDpaper|S000074185}} PMID 14562095</ref><ref name='S000150558'>Mroczek S, et al. (2012) C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification. Genes Dev () |
− | {{SGDpaper| | + | {{SGDpaper|S000150558}} PMID 22899009</ref> |
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Latest revision as of 14:05, 23 August 2012
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Systematic name | YLR132C |
Gene name | USB1 |
Aliases | |
Feature type | ORF, Verified |
Coordinates | Chr XII:408155..407283 |
Primary SGDID | S000004122 |
Description of YLR132C: Putative phosphodiesterase specific for U6 snRNA 3' end modification; trims the 3' poly(u) tract to leave a terminal 3' phosphate; human homolog, hUSB1 (aka C16orf57) produces a 2',3' cyclic phosphate; mutations in hUSB1 are associated with a rare skin condition (OMIM 604173); essential protein that localizes to the nucleus and mitochondria; overexpression suppresses the respiratory defects of oxa1 and mtf2 mutants[1][2][3][4][5]
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References
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- ↑ Giaever G, et al. (2002) Functional profiling of the Saccharomyces cerevisiae genome. Nature 418(6896):387-91 SGD PMID 12140549
- ↑ Glatigny A, et al. (2011) An in silico approach combined with in vivo experiments enables the identification of a new protein whose overexpression can compensate for specific respiratory defects in Saccharomyces cerevisiae. BMC Syst Biol 5(1):173 SGD PMID 22027258
- ↑ Hazbun TR, et al. (2003) Assigning function to yeast proteins by integration of technologies. Mol Cell 12(6):1353-65 SGD PMID 14690591
- ↑ Huh WK, et al. (2003) Global analysis of protein localization in budding yeast. Nature 425(6959):686-91 SGD PMID 14562095
- ↑ Mroczek S, et al. (2012) C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification. Genes Dev () SGD PMID 22899009
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