Efemp1 Gene Summary [Mouse]
Predicted to enable epidermal growth factor receptor activity and epidermal growth factor receptor binding activity. Predicted to be involved in several processes, including negative regulation of chondrocyte differentiation; peptidyl-tyrosine phosphorylation; and regulation of cell projection organization. Located in collagen-containing extracellular matrix and extracellular space. Is expressed in several structures, including alimentary system; brain; embryo mesenchyme; male reproductive gland or organ; and skeleton. Used to study Doyne honeycomb retinal dystrophy. Human ortholog(s) of this gene implicated in Doyne honeycomb retinal dystrophy and cutis laxa. Orthologous to human EFEMP1 (EGF containing fibulin extracellular matrix protein 1). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Efemp1 |
| Official Name | epidermal growth factor-containing fibulin-like extracellular matrix protein 1 [Source:MGI Symbol;Acc:MGI:1339998] |
| Ensembl ID | ENSMUSG00000020467 |
| Bio databases IDs | |
| Aliases | epidermal growth factor-containing fibulin-like extracellular matrix protein 1 |
| Synonyms | ARCL1D, DHRD, DRAD, EFEMP1 isoform 1, EFEMP1 isoform 2, Efemp1 predicted, EGF containing fibulin extracellular matrix protein 1, epidermal growth factor-containing fibulin-like extracellular matrix protein 1, FBLN3, FBNL, FIBL-3, Fibulin-3, GLC1H, MLVT, MTLV, S1-5, T16 |
| Species | Mouse, Mus musculus |
| 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 mouse Efemp1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Complement Clr-like EGF-like
- epidermal growth factor receptor binding
- EGF domain
- enzyme
- protein binding
- epidermal growth factor receptor
- EGF_CA
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- inguinal hernia
- dementia
- hernia
- osteoarthritis
- organismal death
- carpal tunnel syndrome
- hypertension
- breast cancer
- infertility condition
- survival
role in cell
- phosphorylation in
- activation in
- expression in
- apoptosis
- proliferation
- invasion by
- migration
- growth
- adhesion
- transcription 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
- photoreceptor outer segments
- photoreceptor inner segments
- extracellular matrix
- plasma
- basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Efemp1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- peptidyl-tyrosine phosphorylation
- embryonic eye morphogenesis
- epidermal growth factor receptor signaling pathway
- camera-type eye development
- regulation of transcription, DNA-dependent
- negative regulation of chondrocyte differentiation
- visual perception
- post-embryonic eye morphogenesis
Cellular Component
Where in the cell the gene product is active
- extracellular space
- extracellular vesicular exosome
- extracellular matrix
- extracellular region
Molecular Function
What the gene product does at the molecular level
- growth factor activity
- protein binding
- calcium ion binding
- epidermal growth factor receptor binding
- extracellular matrix structural constituent
- epidermal growth factor-activated receptor activity