MFAP5 Gene Summary [Human]
This gene encodes a 25-kD microfibril-associated glycoprotein which is a component of microfibrils of the extracellular matrix. The encoded protein promotes attachment of cells to microfibrils via alpha-V-beta-3 integrin. Deficiency of this gene in mice results in neutropenia. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
Details
| Type | Protein Coding |
| Official Symbol | MFAP5 |
| Official Name | microfibril associated protein 5 [Source:HGNC Symbol;Acc:HGNC:29673] |
| Ensembl ID | ENSG00000197614 |
| Bio databases IDs | |
| Aliases | microfibril associated protein 5, microfibril-associated glycoprotein-2 |
| Synonyms | AAT9, MAGP-2, microfibril associated protein 5, microfibrillar associated protein 5, MP25 |
| 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 MFAP5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular matrix constituent conferring elasticity
- extracellular matrix structural constituent
- protein binding
- Microfibril-associated glycoprotein (MAGP)
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Alzheimer disease
- bladder cancer
- neoplasia
- laser induced choroidal neovascularization
- familial thoracic aortic aneurysms and dissections
- neutropenia
- uterine serous papillary cancer
- familial thoracic aortic aneurysm type 9
- serous ovarian adenocarcinoma
- serous ovarian cancer
role in cell
- production in
- activation in
- expression in
- phosphorylation in
- proliferation
- number
- survival
- organization
- invasion by
- organization 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
- microfibrils
- extracellular matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MFAP5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- embryonic eye morphogenesis
- definitive hemopoiesis
Cellular Component
Where in the cell the gene product is active
- microfibril
- extracellular region
Molecular Function
What the gene product does at the molecular level
- extracellular matrix structural constituent