A2ML1 Gene Summary [Human]
This gene encodes a member of the alpha-macroglobulin superfamily. The encoded protein is thought to be an N-glycosylated monomeric protein that acts as an inhibitor of several proteases. It has been shown to form covalent interactions with proteases, and has been reported as the p170 antigen recognized by autoantibodies in the autoimmune disease paraneoplastic pemphigus (PNP; PMID:20805888). Mutations in these gene have also been associated with some cases of Noonan syndrome (NS; PMID:24939586) as well as some cases of otitis media (PMID:26121085). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
Details
| Type | Protein Coding |
| Official Symbol | A2ML1 |
| Official Name | alpha-2-macroglobulin like 1 [Source:HGNC Symbol;Acc:HGNC:23336] |
| Ensembl ID | ENSG00000166535 |
| Bio databases IDs | |
| Aliases | alpha-2-macroglobulin like 1 |
| Synonyms | alpha-2-macroglobulin like 1, alpha2ML1, CPAMD9, OMS, p170, α-2-macroglobulin like 1 |
| Species | Human, Homo sapiens |
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 A2ML1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Alpha-2-macroglobulin bait region domain
- ISOPREN_C2_like
- protease inhibitor
- Macroglobulin domain MG4
- A-macroglobulin TED domain
- A-macroglobulin receptor binding domain
- Alpha-2-macroglobulin family
- MG2 domain
- Macroglobulin domain MG3
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- susceptibility to otitis media
- nonsyndromic otitis media
- Noonan syndrome
- keratocystic odontogenic tumor
- keratocystic odontogenic tumors
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Extracellular Space
- alveolar epithelial lamellar bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human A2ML1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of endopeptidase activity
Cellular Component
Where in the cell the gene product is active
- extracellular space
- extracellular vesicular exosome
Molecular Function
What the gene product does at the molecular level
- peptidase inhibitor activity
- serine-type endopeptidase inhibitor activity