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Aliases for EFEMP1 Gene

Aliases for EFEMP1 Gene

  • EGF Containing Fibulin-Like Extracellular Matrix Protein 1 2 3
  • FBNL 3 4 6
  • EGF-Containing Fibulin-Like Extracellular Matrix Protein 1 2 3
  • Extracellular Protein S1-5 3 4
  • Fibulin-3 3 4
  • FIBL-3 3 4
  • FBLN3 3 4
  • DHRD 3 6
  • Fibrillin-Like Protein 4
  • Fibrillin-Like 2
  • Fibulin 3 2
  • DRAD 3
  • MLVT 3
  • MTLV 3
  • S1-5 3

External Ids for EFEMP1 Gene

Previous Symbols for EFEMP1 Gene

  • DHRD
  • FBNL

Summaries for EFEMP1 Gene

Entrez Gene Summary for EFEMP1 Gene

  • 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]

GeneCards Summary for EFEMP1 Gene

EFEMP1 (EGF Containing Fibulin-Like Extracellular Matrix Protein 1) is a Protein Coding gene. Diseases associated with EFEMP1 include familial drusen and doyne honeycomb degeneration of retina. Among its related pathways are ERK Signaling and ERK Signaling. GO annotations related to this gene include calcium ion binding and epidermal growth factor receptor binding. An important paralog of this gene is LTBP3.

UniProtKB/Swiss-Prot for EFEMP1 Gene

  • 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.

Gene Wiki entry for EFEMP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EFEMP1 Gene

Genomics for EFEMP1 Gene

Genomic Location for EFEMP1 Gene

Start:
55,865,962 bp from pter
End:
55,924,163 bp from pter
Size:
58,202 bases
Orientation:
Minus strand

Genomic View for EFEMP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EFEMP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EFEMP1 Gene

Regulatory Elements for EFEMP1 Gene

Proteins for EFEMP1 Gene

  • Protein details for EFEMP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12805-FBLN3_HUMAN
    Recommended name:
    EGF-containing fibulin-like extracellular matrix protein 1
    Protein Accession:
    Q12805
    Secondary Accessions:
    • A8K3I4
    • B4DW75
    • D6W5D2
    • Q541U7

    Protein attributes for EFEMP1 Gene

    Size:
    493 amino acids
    Molecular mass:
    54641 Da
    Quaternary structure:
    • Interacts with ECM1. Interacts with TIMP3.
    Miscellaneous:
    • Up-regulated in malignant gliomas. May increase glioma cell adhesiveness and invasive properties

    Alternative splice isoforms for EFEMP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EFEMP1 Gene

Proteomics data for EFEMP1 Gene at MOPED

Post-translational modifications for EFEMP1 Gene

Other Protein References for EFEMP1 Gene

No data available for DME Specific Peptides for EFEMP1 Gene

Domains for EFEMP1 Gene

Gene Families for EFEMP1 Gene

HGNC:

UniProtKB/Swiss-Prot:

FBLN3_HUMAN
Domain:
  • Contains 6 EGF-like domains.:
    • Q12805
Family:
  • Belongs to the fibulin family.:
    • Q12805
genes like me logo Genes that share domains with EFEMP1: view

Function for EFEMP1 Gene

Molecular function for EFEMP1 Gene

GENATLAS Biochemistry: EGF-containing fibrillin-like extracellular matrix protein 1,expressed in retina and retina pigment epithelium,overexpressed in senescent or quiescent fibroblasts
UniProtKB/Swiss-Prot Function: 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.

Gene Ontology (GO) - Molecular Function for EFEMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005006 epidermal growth factor-activated receptor activity IDA 19804359
GO:0005154 epidermal growth factor receptor binding IDA 19804359
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 12620389
GO:0008083 growth factor activity IEA --
genes like me logo Genes that share ontologies with EFEMP1: view
genes like me logo Genes that share phenotypes with EFEMP1: view

Animal Models for EFEMP1 Gene

MGI Knock Outs for EFEMP1:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for EFEMP1 Gene

Localization for EFEMP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EFEMP1 Gene

Secreted, extracellular space. Secreted, extracellular space, extracellular matrix. Note=Localizes to the lamina propria underneath the olfactory epithelium. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EFEMP1 Gene COMPARTMENTS Subcellular localization image for EFEMP1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 1
lysosome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for EFEMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005615 extracellular space IDA 16502470
GO:0031012 colocalizes_with extracellular matrix IDA 20551380
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with EFEMP1: view

Pathways for EFEMP1 Gene

genes like me logo Genes that share pathways with EFEMP1: view

Gene Ontology (GO) - Biological Process for EFEMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IDA 20005202
GO:0007173 epidermal growth factor receptor signaling pathway IDA 19804359
GO:0007601 visual perception TAS 10369267
GO:0018108 peptidyl-tyrosine phosphorylation IDA 19804359
GO:0030198 extracellular matrix organization TAS --
genes like me logo Genes that share ontologies with EFEMP1: view

Transcripts for EFEMP1 Gene

Unigene Clusters for EFEMP1 Gene

EGF containing fibulin-like extracellular matrix protein 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EFEMP1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: - - - -
SP2: - - - - -
SP3: - - - - -
SP4: - - -
SP5: - - -
SP6: - -
SP7: - - -
SP8: - - - -
SP9: -

Relevant External Links for EFEMP1 Gene

GeneLoc Exon Structure for
EFEMP1
ECgene alternative splicing isoforms for
EFEMP1

Expression for EFEMP1 Gene

mRNA expression in normal human tissues for EFEMP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EFEMP1 Gene

This gene is overexpressed in Artery - Aorta (9.3) and Artery - Coronary (5.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for EFEMP1 Gene

SOURCE GeneReport for Unigene cluster for EFEMP1 Gene Hs.76224

mRNA Expression by UniProt/SwissProt for EFEMP1 Gene

Q12805-FBLN3_HUMAN
Tissue specificity: In the eye, associated with photoreceptor outer and inner segment regions, the nerve fiber layer, outer nuclear layer and inner and outer plexiform layers of the retina.
genes like me logo Genes that share expressions with EFEMP1: view

Orthologs for EFEMP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for EFEMP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EFEMP1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EFEMP1 36
  • 91.82 (n)
  • 94.48 (a)
EFEMP1 37
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EFEMP1 36
  • 92.22 (n)
  • 95.94 (a)
EFEMP1 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Efemp1 36
  • 88.84 (n)
  • 94.52 (a)
Efemp1 16
Efemp1 37
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EFEMP1 37
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EFEMP1 37
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Efemp1 36
  • 87.83 (n)
  • 93.31 (a)
chicken
(Gallus gallus)
Aves EFEMP1 36
  • 78.44 (n)
  • 85.78 (a)
EFEMP1 37
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EFEMP1 37
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia efemp1 36
  • 69.43 (n)
  • 70.15 (a)
zebrafish
(Danio rerio)
Actinopterygii EFEMP1 (1 of 2) 37
  • 65 (a)
OneToMany
EFEMP1 (2 of 2) 37
  • 55 (a)
OneToMany
LOC100332567 36
  • 62.85 (n)
  • 64.71 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG31999 37
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea fbl-1 37
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 12 (a)
OneToMany
Species with no ortholog for EFEMP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EFEMP1 Gene

ENSEMBL:
Gene Tree for EFEMP1 (if available)
TreeFam:
Gene Tree for EFEMP1 (if available)

Paralogs for EFEMP1 Gene

genes like me logo Genes that share paralogs with EFEMP1: view

Variants for EFEMP1 Gene

Sequence variations from dbSNP and Humsavar for EFEMP1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs12292 -- 55,917,975(-) TACCT(A/C)TGCCT synonymous-codon, reference
rs14282 Benign 55,917,795(-) CCTGA(A/G)ATGCA reference, synonymous-codon
rs727877 -- 55,892,375(+) CTTGG(A/T)TCTTG intron-variant
rs727878 -- 55,892,522(+) GGACT(C/T)ATCTT intron-variant
rs934273 -- 55,897,149(+) CCTCA(A/G/T)AGACT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EFEMP1 Gene

Variant ID Type Subtype PubMed ID
esv272064 CNV Insertion 20981092
nsv2736 CNV Insertion 18451855
nsv819764 CNV Loss 19587683

Relevant External Links for EFEMP1 Gene

HapMap Linkage Disequilibrium report
EFEMP1
Human Gene Mutation Database (HGMD)
EFEMP1
Locus Specific Mutation Databases (LSDB)
EFEMP1

Disorders for EFEMP1 Gene

(1) OMIM Diseases for EFEMP1 Gene (601548)

UniProtKB/Swiss-Prot

FBLN3_HUMAN
  • Doyne honeycomb retinal dystrophy (DHRD) [MIM:126600]: Autosomal dominant disease characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium. {ECO:0000269 PubMed:10369267, ECO:0000269 PubMed:11384588}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for EFEMP1 Gene

(6) Novoseek inferred disease relationships for EFEMP1 Gene

Disease -log(P) Hits PubMed IDs
doyne honeycomb retinal dystrophy 98.2 8
drusen 86.6 13
werner syndrome 57.3 2
maculopathy 52.5 2
retinopathy 20 1

Relevant External Links for EFEMP1

Genetic Association Database (GAD)
EFEMP1
Human Genome Epidemiology (HuGE) Navigator
EFEMP1
genes like me logo Genes that share disorders with EFEMP1: view

Publications for EFEMP1 Gene

  1. Structure and chromosomal assignment of the human S1-5 gene (FBNL) that is highly homologous to fibrillin. (PMID: 8812496) Ikegawa S. … Nakamura Y. (Genomics 1996) 2 3 4 23
  2. EFEMP1 is not associated with sporadic early onset drusen. (PMID: 11262647) Sauer C.G. … Weber B.H. (Ophthalmic Genet. 2001) 3 4 23 49
  3. Dominant radial drusen and Arg345Trp EFEMP1 mutation. (PMID: 11384588) Matsumoto M. … Traboulsi E.I. (Am. J. Ophthalmol. 2001) 3 4 23
  4. A single EFEMP1 mutation associated with both malattia Leventinese and Doyne honeycomb retinal dystrophy. (PMID: 10369267) Stone E.M. … Schorderet D.F. (Nat. Genet. 1999) 3 4 23
  5. Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4. (PMID: 10601734) Giltay R. … Kostka G. (Matrix Biol. 1999) 3 4 23

Products for EFEMP1 Gene

Sources for EFEMP1 Gene

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