.. _SPPL3: SPPL3 ^^^^^ .. contents:: :local: General Information ******************* :Full gene name: signal peptide peptidase like 3 :Entrez Gene ID: 121665 :Location: 12q24.31 :Synonyms: IMP2, MDHV1887, PRO4332, PSH1, PSL4 :Type: protein-coding User SNPs ********* SNPs given by the user that are near or inside this gene: +-----------+---------------+-----------+ | SNP | Distance (bp) | Direction | +===========+===============+===========+ | rs7957197 | 118535 | upstream | +-----------+---------------+-----------+ .. _SPPL3 Gene summary: NCBI Summary ************ None available. .. _OMIM ID 608240 : http://omim.org/entry/608240 .. _SPPL3 OMIM Text: OMIM **** :OMIM ID: `OMIM ID 608240 `_ .. _SPPL3 Phenotype: NCBI Phenotypes *************** * Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. * NHGRI GWA Catalog .. _SPPL3 GO Term: Gene Ontology ************* * rough endoplasmic reticulum * protein homodimerization activity * aspartic endopeptidase activity, intramembrane cleaving * integral to lumenal side of endoplasmic reticulum membrane * integral to cytosolic side of endoplasmic reticulum membrane * membrane protein ectodomain proteolysis * Golgi-associated vesicle membrane .. _SPPL3 Pathway: KEGG Pathways ************* No pathways found linked to this gene. .. _SPPL3 GeneRIF: GeneRIFs ******** * SPPL2b is targeted through the secretory pathway to endosomes/lysosomes, whereas SPP and SPPL3 are restricted to the ER. [`PMID 15998642`_] * SPP, SPPL2a, -2b, -2c, and -3 probably cleave type II-oriented substrate peptides as shown by consensus analysis [`PMID 15385547`_] * SPPL3 cleaves a SPP substrate, but a more distantly related homologue SPPL2b does not, providing strong evidence that the malaria SPP and human SPPL3 have conserved active sites, while the active sites SPPL2b is distinct [`PMID 16873890`_] .. _PMID 15998642: http://www.ncbi.nlm.nih.gov/pubmed/15998642 .. _PMID 15385547: http://www.ncbi.nlm.nih.gov/pubmed/15385547 .. _PMID 16873890: http://www.ncbi.nlm.nih.gov/pubmed/16873890 .. _SPPL3 Pubmed: PubMed Articles *************** *Recent articles:* * Rose JE et al. "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score." Mol Med. 2010 Jul-Aug;16(7-8):247-53. `PMID 20379614`_ * Lowe JK et al. "Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae." PLoS Genet. 2009 Feb;5(2):e1000365. `PMID 19197348`_ * Nyborg AC et al. "Intramembrane proteolytic cleavage by human signal peptide peptidase like 3 and malaria signal peptide peptidase." FASEB J. 2006 Aug;20(10):1671-9. `PMID 16873890`_ * Friedmann E et al. "SPPL2a and SPPL2b promote intramembrane proteolysis of TNFalpha in activated dendritic cells to trigger IL-12 production." Nat Cell Biol. 2006 Aug;8(8):843-8. `PMID 16829952`_ * Krawitz P et al. "Differential localization and identification of a critical aspartate suggest non-redundant proteolytic functions of the presenilin homologues SPPL2b and SPPL3." J Biol Chem. 2005 Nov 25;280(47):39515-23. `PMID 15998642`_ * Friedmann E 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 Dec 3;279(49):50790-8. `PMID 15385547`_ * Gerhard DS et al. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." Genome Res. 2004 Oct;14(10B):2121-7. `PMID 15489334`_ * Ota T et al. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat Genet. 2004 Jan;36(1):40-5. `PMID 14702039`_ * Clark HF et al. "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Genome Res. 2003 Oct;13(10):2265-70. `PMID 12975309`_ * Strausberg RL et al. "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences." Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. `PMID 12477932`_ .. _PMID 15385547: http://www.ncbi.nlm.nih.gov/pubmed/15385547 .. _PMID 15998642: http://www.ncbi.nlm.nih.gov/pubmed/15998642 .. _PMID 16873890: http://www.ncbi.nlm.nih.gov/pubmed/16873890 .. _PMID 16829952: http://www.ncbi.nlm.nih.gov/pubmed/16829952 .. _PMID 12477932: http://www.ncbi.nlm.nih.gov/pubmed/12477932 .. _PMID 12975309: http://www.ncbi.nlm.nih.gov/pubmed/12975309 .. _PMID 14702039: http://www.ncbi.nlm.nih.gov/pubmed/14702039 .. _PMID 20379614: http://www.ncbi.nlm.nih.gov/pubmed/20379614 .. _PMID 19197348: http://www.ncbi.nlm.nih.gov/pubmed/19197348 .. _PMID 15489334: http://www.ncbi.nlm.nih.gov/pubmed/15489334 *Top Pubmed articles linked to gene SPPL3 matching any search term:* * Lowe JK et al. "Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae." PLoS Genet. 2009 Feb;5(2):e1000365. `PMID 19197348`_ .. _PMID 19197348: http://www.ncbi.nlm.nih.gov/pubmed/19197348