EFEMP1 Gene Summary [Human]
This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]
Details
| Type | Protein Coding |
| Official Symbol | EFEMP1 |
| Official Name | EGF containing fibulin extracellular matrix protein 1 [Source:HGNC Symbol;Acc:HGNC:3218] |
| Ensembl ID | ENSG00000115380 |
| Bio databases IDs | |
| Aliases | EGF containing fibulin extracellular matrix protein 1, fibulin 3 |
| 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 | 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 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 human 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