FRAS1 Gene Summary [Human]
This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Details
| Type | Protein Coding |
| Official Symbol | FRAS1 |
| Official Name | Fraser extracellular matrix complex subunit 1 [Source:HGNC Symbol;Acc:HGNC:19185] |
| Ensembl ID | ENSG00000138759 |
| Bio databases IDs | |
| Aliases | Fraser extracellular matrix complex subunit 1 |
| Synonyms | bl, E130113P14Rik, Fraser extracellular matrix complex subunit 1, FRASRS1, LOC103693728, mKIAA1500 |
| 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 FRAS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Giardia variant-specific surface protein
- Cadherin-like
- Growth factor receptor domain IV
- Furin-like cysteine rich region
- Bacterial Ig domain
- protein binding
- Tumor necrosis factor receptor superfamily (TNFRSF)
- Domains in Na-Ca exchangers and integrin-beta4
- FU
- von Willebrand factor type C domain
- cytoplasmic domain
- Furin-like repeat, cysteine-rich
- Furin-like repeats
- Calx-beta domain
- Cell surface immobilization antigen SerH
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Fraser syndrome type 1
- chronic obstructive pulmonary disease
- agenesis
- COVID-19
- congenital anomalies of kidney and urinary tract
- bleeding
- lung adenocarcinoma
- lung adenocarcinoma formation
- myopia
- cryptophthalmos syndrome
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
- cellular membrane
- vesicles
- basal cell surfaces
- extracellular matrix
- basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FRAS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- embryonic limb morphogenesis
- metanephros morphogenesis
- cell communication
- morphogenesis of an epithelium
- palate development
- protein transport
- anatomical structure morphogenesis
- skin development
Cellular Component
Where in the cell the gene product is active
- basement membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- metal ion binding