SPPL2A Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | SPPL2A |
| Official Name | signal peptide peptidase like 2A [Source:HGNC Symbol;Acc:HGNC:30227] |
| Ensembl ID | ENSG00000138600 |
| Bio databases IDs | |
| Aliases | signal peptide peptidase like 2A, intramembrane protease 3, presenilin-like protein 2 |
| Synonyms | 2010106G01Rik, AK080421, C130089K23Rik, IMD86, IMP3, PSL2, RGD1563001, signal peptide peptidase-like 2A |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SPPL2A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- aspartic endopeptidase, intramembrane cleaving
- PA domain
- PA
- peptidase
- protein homodimerization
- protein binding
- Signal peptide peptidase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- immunodeficiency
- ischemic stroke
- Alzheimer disease
- venous thromboembolism
- preeclampsia
- refractive error
- acne
- coronary artery disease
- vertigo
- immunodeficiency 86
role in cell
- expression in
- quantity
- differentiation
- formation in
- accumulation
- function
- number
- loss
- processing in
- accumulation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- intracellular membrane-bounded organelle
- cellular membrane
- Golgi membrane
- lysosome membrane
- endosomal membrane
- late endosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SPPL2A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- membrane protein ectodomain proteolysis
- membrane protein intracellular domain proteolysis
- membrane protein proteolysis
- regulation of tumor necrosis factor-mediated signaling pathway
- regulation of immune response
Cellular Component
Where in the cell the gene product is active
- late endosome membrane
- extracellular vesicular exosome
- intracellular membrane-bounded organelle
- membrane
- Golgi-associated vesicle membrane
- late endosome
- lysosomal membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein homodimerization activity
- protein binding
- aspartic endopeptidase activity, intramembrane cleaving