Gene: EFEMP1 - Homo sapiens
Last modified: Dec 09, 2014. Release 1 • Page created: May 19, 2024
Summary
Gene Symbol | : | EFEMP1 | ||||||||||||||||
NCBI Gene ID | : | 2202 | ||||||||||||||||
Species | : | Homo sapiens | ||||||||||||||||
Gene Synonyms | : | DHRD | DRAD | EFEMP1 | EGF containing fibulin-like extracellular matrix protein 1 | EGF-CONTAINING FIBULIN-LIKE EXTRACELLULAR MATRIX PROTEIN 1 | EGF-containing fibulin-like extracellular matrix protein 1 | extracellular protein S1-5 | FBLN3 | FBNL | FIBL-3 | FIBRILLIN-LIKE | fibrillin-like | FIBULIN 3 | fibulin 3 | fibulin-3 | MLVT | MTLV | S1-5 Source: GPSDB |
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Gene Homologs | : | EFEMP1 (Bos taurus) | EFEMP1 (Canis lupus familiaris) | EFEMP1 (Gallus gallus) | EFEMP1 (Homo sapiens) | Efemp1 (Mus musculus) | EFEMP1 (Pan troglodytes) | Efemp1 (Rattus norvegicus) | LOC100332567 (Danio rerio) | LOC455416 (Pan troglodytes) | ||||||||||||||||
Ageing Relevance Analysis | : |
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Ageing Factor Stable ID | : | AF_008369 | ||||||||||||||||
Download | : | XML |
Protein Information
Protein Name | Species | UniProt Accession Number | UniProt Entry Name | Protein Function | Sequence |
---|---|---|---|---|---|
EGF-containing fibulin-like extracellular matrix protein 1 | Homo sapiens | Q12805 (UniProtKB/Swiss-Prot) | FBLN3_HUMAN (UniProtKB/Swiss-Prot) | Binds EGFR, the EGF receptor, inducing EGFR autophosphorylation and the activation of downstream signaling pathways. May play a role in cell adhesion and migration. May function as a negative regulator of chondrocyte differentiation. In the olfactory epithelium, it may regulate glial cell migration, differentiation and the ability of glial cells to support neuronal neurite outgrowth. | View |
Observations
Ageing Phenotype
Data Type 1
Ageing Relevance:
- yes (Exp. Analysis)
- yes, but no ageing factor assigned (Exp. Analysis)
- no (Exp. Analysis)
- putative (Comp. Analysis)
# | Observation Stable ID | Species | Gene | Other Ageing Factor | Description | PubMed | Source | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
1 | OB_009858 | Homo sapiens |
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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. | GenAge |
Data Type 2
no ageing phenotype observation—data type 2 available
Homology Analysis
Ageing Relevance:
- yes (Exp. Analysis)
- yes, but no ageing factor assigned (Exp. Analysis)
- no (Exp. Analysis)
- putative (Comp. Analysis)
Legend:
- #EGHG:
- Number of Experimentally Confirmed Ageing-related Genes In Homology Group
# | Observation Stable ID | Homology Group Genes | #EGHG | Description | Source | Homology Source |
---|---|---|---|---|---|---|
1 | OB_009546 | 2 | The HomoloGene homology group 3028 contains 2 genes with experimental evidence for ageing relevance (EFEMP1 - Homo sapiens | Efemp1 - Mus musculus) and 7 other genes. | AgeFactDB Homology Analysis | HomoloGene homology group 3028 |
Sequences
FBLN3_HUMAN | Q12805 | EGF-containing fibulin-like extracellular matrix protein 1 (Homo sapiens) from UniProtKB/Swiss-Prot Length: 493 10 20 30 40 50 60 70 80 90 100 110 120 130 140 150 160 170 180 190 200 210 220 230 240 250 260 270 280 290 300 310 320 330 340 350 360 370 380 390 400 410 420 430 440 450 460 470 480 490 FBLN3_HUMAN 1 MLKALFLTMLTLALVKSQDTEETITYTQCTDGYEWDPVRQQCKDIDECDIVPDACKGGMKCVNHYGGYLCLPKTAQIIVNNEQPQQETQPAEGTSGATTGVVAASSMATSGVLPGGGFVASAAAVAGPEMQTGRNNFVIRRNPADPQRIPSNPSHRIQCAAGYEQSEHNVCQDIDECTAGTHNCRADQVCINLRGSFACQCPPGYQKRGEQCVDIDECTIPPYCHQRCVNTPGSFYCQCSPGFQLAANNYTCVDINECDASNQCAQQCYNILGSFICQCNQGYELSSDRLNCEDIDECRTSSYLCQYQCVNEPGKFSCMCPQGYQVVRSRTCQDINECETTNECREDEMCWNYHGGFRCYPRNPCQDPYILTPENRCVCPVSNAMCRELPQSIVYKYMSIRSDRSVPSDIFQIQATTIYANTINTFRIKSGNENGEFYLRQTSPVSAMLVLVKSLSGPREHIVDLEMLTVSSIGTFRTSSVLRLTIIVGPFSF 493
References
MeSH Terms: Only a subset of the Medical Subject Headings terms is shown: the Major Topics MeSH terms. They describe one of the main topics discussed in the article denoted by an asterisk on the MeSH term or MeSH/Subheading combination on the PubMed page. MeSH terms that belong to the Ageing MeSH are highlighted in green.
- Stone EM, Lotery AJ, Munier FL, Héon E, Piguet B, Guymer RH, Vandenburgh K, Cousin P, Nishimura D, Swiderski RE, Silvestri G, Mackey DA, Hageman GS, Bird AC, Sheffield VC, Schorderet DF:
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.
Nat Genet. 1999; 22: 199-202.
PubMed (ID: 10369267), doi:10.1038/9722
MeSH Terms: Chromosomes, Human, Pair 2; Corneal Dystrophies, Hereditary/genetics; Extracellular Matrix Proteins/genetics; Point Mutation; Retinal Drusen/genetics - Marmorstein LY, Munier FL, Arsenijevic Y, Schorderet DF, McLaughlin PJ, Chung D, Traboulsi E, Marmorstein AD:
Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration.
Proc Natl Acad Sci USA. 2002; 99: 13067-72.
PubMed (ID: 12242346), PubMed Central (ID: PMC130587), doi:10.1073/pnas.202491599
MeSH Terms: Extracellular Matrix Proteins/genetics; Extracellular Matrix Proteins/metabolism; Macular Degeneration/metabolism - McLaughlin PJ, Bakall B, Choi J, Liu Z, Sasaki T, Davis EC, Marmorstein AD, Marmorstein LY:
Lack of fibulin-3 causes early aging and herniation, but not macular degeneration in mice.
Hum Mol Genet. 2007; 16: 3059-70.
PubMed (ID: 17872905), doi:10.1093/hmg/ddm264
MeSH Terms: Aging, Premature/genetics; Extracellular Matrix Proteins/genetics; Hernia/genetics
Sources
Ageing-related Data Sources
- AgeFactDB Homology Analysis
- GenAge
Additional Data Sources
- AgeFactDB Pipeline
- GPSDB
- HomoloGene
- NCBI Taxonomy
- PubMed
- UniProtKB/Swiss-Prot