SPPL3

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

NCBI Summary

None available.

OMIM

OMIM ID:`OMIM ID 608240 `_

NCBI Phenotypes

• Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
• NHGRI GWA Catalog

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

KEGG Pathways

No pathways found linked to this gene.

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]

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

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