PAPPA Gene Summary [Human]
This gene encodes a secreted metalloproteinase which cleaves insulin-like growth factor binding proteins (IGFBPs). Following IGFBP cleavage, insulin growth factors dissociate from IGFBPs and bind to IGF receptors, resulting in activation of the IGF pathway. The encoded protein plays a role in bone formation, inflammation, wound healing and female fertility. Enhanced expression of this protein is associated with diabetic nephropathy in human patients and this protein may promote tumor invasion and growth in various human cancers. [provided by RefSeq, Aug 2017]
Details
| Type | Protein Coding |
| Official Symbol | PAPPA |
| Official Name | pappalysin 1 [Source:HGNC Symbol;Acc:HGNC:8602] |
| Ensembl ID | ENSG00000182752 |
| Bio databases IDs | |
| Aliases | pappalysin 1, insulin-like growth factor-dependent IGF binding protein-4 protease, aspecific BCL2 ARE-binding protein 2, differentially placenta 1 expressed protein |
| Synonyms | 8430414N03RIK, ASBABP2, DIPLA1, IGFBP-4ase, IGF-dependent protease for IGFBP4, PAPA, PAPPA1, pappalysin, pappalysin 1, pregnancy-associated plasma protein A |
| 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 PAPPA often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- LamG
- peptidase
- LNR domain
- protein binding
- CCP
- Myxococcus cysteine-rich repeat
- Concanavalin A-like lectin/glucanases superfamily
- metallopeptidase
- ZnMc
- endopeptidase
- Lin-12/Notch repeat
- zinc ion binding
- Sushi repeat (SCR repeat)
- SUSHI repeat
- metalloendopeptidase
Pathways
Biological processes and signaling networks where the PAPPA gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- renal clear cell adenocarcinoma
- metastatic colorectal cancer
- organismal death
- metabolic syndrome X
- osteosarcomagenesis
- Ewing sarcoma
- conotruncal heart malformations
- renal clear cell cancer
- proportional dwarfism
- migraines
role in cell
- apoptosis
- expression in
- formation
- invasion by
- migration
- proliferation
- signaling in
- size
- G1 phase
- phosphorylation 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.
- Extracellular Space
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PAPPA gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein metabolic process
- protein catabolic process
- proteolysis
- female pregnancy
- cell surface receptor signaling pathway
- response to follicle-stimulating hormone stimulus
- response to dexamethasone stimulus
Cellular Component
Where in the cell the gene product is active
- extracellular space
- extracellular region
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- protein binding
- metalloendopeptidase activity
- metallopeptidase activity