Aliases for SPPL2A Gene
External Ids for SPPL2A Gene
Previous GeneCards Identifiers for SPPL2A Gene
This gene encodes a member of the GXGD family of aspartic proteases, which are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions, as well as a member of the signal peptide peptidase-like protease (SPPL) family. This protein is expressed in all major adult human tissues and localizes to late endosomal compartments and lysosomal membranes. A pseudogene of this gene also lies on chromosome 15. [provided by RefSeq, Feb 2012]
GeneCards Summary for SPPL2A Gene
SPPL2A (Signal Peptide Peptidase Like 2A) is a Protein Coding gene. Diseases associated with SPPL2A include Cerebral Amyloid Angiopathy, Itm2b-Related, 1 and Cerebral Amyloid Angiopathy, Itm2b-Related, 2. Among its related pathways are TNF signaling (REACTOME) and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and aspartic-type endopeptidase activity. An important paralog of this gene is SPPL2B.
UniProtKB/Swiss-Prot Summary for SPPL2A Gene
Intramembrane-cleaving aspartic protease (I-CLiP) that cleaves type II membrane signal peptides in the hydrophobic plane of the membrane. Functions in FASLG, ITM2B and TNF processing (PubMed:16829952, PubMed:16829951, PubMed:17557115, PubMed:17965014). Catalyzes the intramembrane cleavage of the anchored fragment of shed TNF-alpha (TNF), which promotes the release of the intracellular domain (ICD) for signaling to the nucleus (PubMed:16829952). Also responsible for the intramembrane cleavage of Fas antigen ligand FASLG, which promotes the release of the intracellular FasL domain (FasL ICD) (PubMed:17557115). May play a role in the regulation of innate and adaptive immunity (PubMed:16829952). Catalyzes the intramembrane cleavage of the simian foamy virus envelope glycoprotein gp130 independently of prior ectodomain shedding by furin or furin-like proprotein convertase (PC)-mediated cleavage proteolysis (PubMed:23132852).