SPPL2C

Summary

Gene Symbol: SPPL2C
Description: signal peptide peptidase like 2C
Alias: IMP5, signal peptide peptidase-like 2C, IMP-5, SPP-like 2C, intramembrane protease 5
Species: human
Products:     SPPL2C

Top Publications

  1. Do C, Tung J, Dorfman E, Kiefer A, Drabant E, Francke U, et al. Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. PLoS Genet. 2011;7:e1002141 pubmed publisher
  2. Simón Sánchez J, Schulte C, Bras J, Sharma M, Gibbs J, Berg D, et al. Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet. 2009;41:1308-12 pubmed publisher
    ..14, P = 1.55 x 10(-5)). These data demonstrate an unequivocal role for common genetic variants in the etiology of typical PD and suggest population-specific genetic heterogeneity in this disease. ..
  3. Pastor P, Ezquerra M, Perez J, Chakraverty S, Norton J, Racette B, et al. Novel haplotypes in 17q21 are associated with progressive supranuclear palsy. Ann Neurol. 2004;56:249-58 pubmed
    ..04 Mb and contains several genes such as MAPT, CRHR1, IMP5, Saitohin, WTN3, and NSF...
  4. Edwards T, Scott W, Almonte C, Burt A, Powell E, Beecham G, et al. Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease. Ann Hum Genet. 2010;74:97-109 pubmed publisher
    ..79] T vs. C allele, PAR%= 8%) were genome-wide significant. No other SNPs were genome-wide significant in this analysis. This study confirms that SNCA and the MAPT region are major genes whose common variants are influencing risk of PD. ..
  5. Ezzitouny M, Sánchez Lázaro I, Rivera M, Portoles Sanz M, Roselló Lletí E, Gil Cayuela C, et al. Molecular Alterations of Nucleocytoplasmic Transport in Patients on the Heart Transplantation Waiting List and Its Correlation With the Severity and Etiology of Heart Failure. Transplant Proc. 2019;51:369-371 pubmed publisher
    ..Sixty-three blood samples collected before HT were analyzed to identify the levels of IMPORTIN5 (IMP5); IMPORTINalpha2; ATPaseCaTransp (ATPCa); NUCLEOPORIN153kDa (Nup153); NUCLEOPORIN160kDa (Nup160); RANGTPaseAP1 (..
  6. Niemeyer J, Mentrup T, Heidasch R, Müller S, Biswas U, Meyer R, et al. The intramembrane protease SPPL2c promotes male germ cell development by cleaving phospholamban. EMBO Rep. 2019;20: pubmed publisher
    ..Here, we analyse the physiological function of the orphan protease SPPL2c, previously considered to represent a non-expressed pseudogene...
  7. Papadopoulou A, Müller S, Mentrup T, Shmueli M, Niemeyer J, Haug Kröper M, et al. Signal Peptide Peptidase-Like 2c (SPPL2c) impairs vesicular transport and cleavage of SNARE proteins. EMBO Rep. 2019;20: pubmed publisher
    ..However, one member of this protease family, signal peptide peptidase-like 2c (SPPL2c), remains orphan and its capability of proteolysis as well as its physiological function is still enigmatic...
  8. Soniat M, Cagatay T, Chook Y. Recognition Elements in the Histone H3 and H4 Tails for Seven Different Importins. J Biol Chem. 2016;291:21171-21183 pubmed
    ..Biochemical studies of H3 and H4 tails binding to seven Importins, Imp?, Kap?2, Imp4, Imp5, Imp7, Imp9, and Imp?, show the H3 tail binding more tightly than the H4 tail...
  9. Mentrup T, Loock A, Fluhrer R, Schröder B. Signal peptide peptidase and SPP-like proteases - Possible therapeutic targets?. Biochim Biophys Acta Mol Cell Res. 2017;1864:2169-2182 pubmed publisher
    Signal peptide peptidase (SPP) and the four homologous SPP-like proteases SPPL2a, SPPL2b, SPPL2c and SPPL3 are GxGD-type intramembrane-cleaving proteases (I-CLIPs)...

More Information

Publications17

  1. Wu M, Assassi S, Salazar G, Pedroza C, Gorlova O, Chen W, et al. Genetic susceptibility loci of idiopathic interstitial pneumonia do not represent risk for systemic sclerosis: a case control study in Caucasian patients. Arthritis Res Ther. 2016;18:20 pubmed publisher
    ..29, CI 95 % -3.85 to -0.74, p value = 0.004) rs17690703 in SPPL2C (β = 2.04, CI 95 % 0.21 to 3.88, p value = 0...
  2. Park J, Cai J, McIntosh I, Jabs E, Fallin M, Ingersoll R, et al. High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts. J Med Genet. 2006;43:598-608 pubmed
    ..Three other genes showing statistical evidence (ADH1C, SCN3B, and IMP5) were not expressed in the embryonic tissues examined here...
  3. Li R, Brockschmidt F, Kiefer A, Stefansson H, Nyholt D, Song K, et al. Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases. PLoS Genet. 2012;8:e1002746 pubmed publisher
    ..78, p?=?1.4×10???]. Our results highlight unexpected associations between early-onset AGA, Parkinson's disease, and decreased fertility, providing important insights into the pathophysiology of these conditions. ..
  4. Friedmann E, Lemberg M, Weihofen A, Dev K, Dengler U, Rovelli G, et al. Consensus analysis of signal peptide peptidase and homologous human aspartic proteases reveals opposite topology of catalytic domains compared with presenilins. J Biol Chem. 2004;279:50790-8 pubmed
    ..Other than presenilins, SPPL2a, -2b, -2c, and -3 are therefore predicted to cleave type II-oriented substrate peptides like the prototypic protease SPP. ..
  5. Friedmann E, Hauben E, Maylandt K, Schleeger S, Vreugde S, Lichtenthaler S, et al. SPPL2a and SPPL2b promote intramembrane proteolysis of TNFalpha in activated dendritic cells to trigger IL-12 production. Nat Cell Biol. 2006;8:843-8 pubmed
    ..Our study reveals a critical function for SPPL2a and SPPL2b in the regulation of innate and adaptive immunity. ..
  6. Martin L, Fluhrer R, Reiss K, Kremmer E, Saftig P, Haass C. Regulated intramembrane proteolysis of Bri2 (Itm2b) by ADAM10 and SPPL2a/SPPL2b. J Biol Chem. 2008;283:1644-52 pubmed
    ..SPP-like (SPPL) proteases, such as SPPL2a, SPPL2b, SPPL2c, and SPPL3, also belong to the GXGD family...
  7. Noth I, Zhang Y, Ma S, Flores C, Barber M, Huang Y, et al. Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study. Lancet Respir Med. 2013;1:309-317 pubmed publisher
    ..Our aim was to identify additional common variants associated with susceptibility and ultimately mortality in IPF...
  8. Grigorenko A, Moliaka Y, Korovaitseva G, Rogaev E. Novel class of polytopic proteins with domains associated with putative protease activity. Biochemistry (Mosc). 2002;67:826-35 pubmed
    ..The data demonstrate that a conservative class of putative protease-related polytopic proteins related to presenilins exists in multicellular eukaryotes and microorganisms. ..