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

Display region using the UCSC Genome Browser (GRCh38/hg38)

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

Show all GO terms

Protein interactions and network

Protein-protein interacting partners in GenAge: CACNA1A
STRING interaction network

Retrieve sequences for EFEMP1

ORF: ORF
CDS: CDS

Homologs in model organisms

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