GenAge entry for EFEMP1 (Homo sapiens)
Entry selected based on evidence directly linking the gene product to ageing in a mammalian model organism
Gene name (HAGRID: 260)
- HGNC symbol
- EFEMP1
- Aliases
- S1-5; FBLN3; MTLV; DHRD; FBNL
- Common name
- EGF containing fibulin-like extracellular matrix protein 1
Potential relevance to the human ageing process
- Main reason for selection
- Entry selected based on evidence directly linking the gene product to ageing in a mammalian model organism
- Description
EFEMP1 encodes an extracellular matrix protein of unknown function. Knockout mice exhibited an early onset of ageing-associated phenotypes including reduced lifespan, decreased body mass and muscle and organ atrophy [1854]. In humans, a mutation in EFEMP1 has been associated with Malattia Leventinese, a disease similar to age-related macular degeneration [1889]. A role of EFEMP1 in ageing is plausible though further research is warranted to confirm or disprove this hypothesis.
Cytogenetic information
- Cytogenetic band
- 2p16
- Location
- 55,865,967 bp to 55,924,139 bp
- Orientation
- Minus strand
Protein information
- Gene Ontology
-
Process: GO:0006355; regulation of transcription, DNA-templated
GO:0007173; epidermal growth factor receptor signaling pathway
GO:0007601; visual perception
GO:0018108; peptidyl-tyrosine phosphorylation
GO:0032331; negative regulation of chondrocyte differentiation
GO:0043010; camera-type eye development
GO:0048048; embryonic eye morphogenesis
GO:0048050; post-embryonic eye morphogenesis
Cellular component: GO:0005576; extracellular region
GO:0005578; proteinaceous extracellular matrix
GO:0005615; extracellular space
GO:0031012; extracellular matrix
GO:0070062; extracellular exosome
Function: GO:0005006; epidermal growth factor-activated receptor activity
GO:0005154; epidermal growth factor receptor binding
GO:0005509; calcium ion binding
GO:0005515; protein binding
GO:0008083; growth factor activity
Protein interactions and network
Retrieve sequences for EFEMP1
Homologs in model organisms
- Caenorhabditis elegans
- fbl-1
- Danio rerio
- EFEMP1 (1 of many)
- Danio rerio
- EFEMP1 (1 of many)
- Drosophila melanogaster
- CG31999
- Mus musculus
- Efemp1
- Rattus norvegicus
- Efemp1
In other databases
- GenAge model organism genes
- A homolog of this gene for Mus musculus is present as Efemp1
- GenAge microarray genes
- This gene is present as EFEMP1
- CellAge gene expression
- This gene is present as EFEMP1
Selected references
External links
- EPD
- ORF Accession
- NM_004105
- CDS Accession
- NP_004096
- OMIM
- 601548
- HPRD
- 03331
- Ensembl
- EFEMP1
- UniProt/Swiss-Prot
- FBLN3_HUMAN
- GeneCards
- EFEMP1
- Entrez Gene
- 2202
- GenAtlas
- EFEMP1
- Internet
- Search Google