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
Protein-Protein network diagram for EFEMP1

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

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
UniGene
76224
GenAtlas
EFEMP1
Internet
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