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Aliases for EFEMP1 Gene

Aliases for EFEMP1 Gene

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

External Ids for EFEMP1 Gene

Previous HGNC Symbols for EFEMP1 Gene

  • DHRD
  • FBNL

Previous GeneCards Identifiers for EFEMP1 Gene

  • GC02M056130
  • GC02M056279
  • GC02M056067
  • GC02M056004
  • GC02M056093

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 doyne honeycomb degeneration of retina and familial drusen. Among its related pathways are Degradation of the extracellular matrix 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

Regulatory Elements for EFEMP1 Gene

Promoters for EFEMP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EFEMP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for EFEMP1 Gene

Chromosome:
2
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

Genes around EFEMP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EFEMP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EFEMP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Glycosylation at Asn 249
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for EFEMP1 Gene

Domains & Families for EFEMP1 Gene

Gene Families for EFEMP1 Gene

Suggested Antigen Peptide Sequences for EFEMP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q12805

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for EFEMP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EFEMP1 Gene

MGI Knock Outs for EFEMP1:

Animal Model Products

  • Taconic Biosciences Mouse Models for EFEMP1

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets 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
vacuole 1

Gene Ontology (GO) - Cellular Components for EFEMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005604 basement membrane IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with EFEMP1: view

Pathways & Interactions 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:0030198 extracellular matrix organization TAS --
GO:0048048 embryonic eye morphogenesis IEP 25406291
GO:0048050 post-embryonic eye morphogenesis IEP 25406291
genes like me logo Genes that share ontologies with EFEMP1: view

No data available for SIGNOR curated interactions for EFEMP1 Gene

Drugs & Compounds for EFEMP1 Gene

No Compound Related Data Available

Transcripts for EFEMP1 Gene

Unigene Clusters for EFEMP1 Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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 (x9.3) and Artery - Coronary (x5.9).

Protein differential expression in normal tissues from HIPED for EFEMP1 Gene

This gene is overexpressed in Vitreous humor (18.5), Cerebrospinal fluid (6.9), Synovial fluid (6.2), Urine (6.1), and Skin (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with EFEMP1: view

Protein tissue co-expression partners for EFEMP1 Gene

Primer Products

In Situ Assay Products

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 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EFEMP1 35
  • 91.82 (n)
  • 94.48 (a)
EFEMP1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EFEMP1 36
  • 95 (a)
OneToOne
EFEMP1 35
  • 92.22 (n)
  • 95.94 (a)
mouse
(Mus musculus)
Mammalia Efemp1 16
Efemp1 35
  • 88.84 (n)
  • 94.52 (a)
Efemp1 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EFEMP1 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EFEMP1 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Efemp1 35
  • 87.83 (n)
  • 93.31 (a)
chicken
(Gallus gallus)
Aves EFEMP1 35
  • 78.44 (n)
  • 85.78 (a)
EFEMP1 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EFEMP1 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia efemp1 35
  • 69.43 (n)
  • 70.15 (a)
zebrafish
(Danio rerio)
Actinopterygii EFEMP1 (1 of 2) 36
  • 65 (a)
OneToMany
EFEMP1 (2 of 2) 36
  • 55 (a)
OneToMany
LOC100332567 35
  • 62.85 (n)
  • 64.71 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG31999 36
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea fbl-1 36
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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

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
rs960993 -- 55,909,093(-) TTATT(A/G)AAAGA intron-variant
rs1430195 -- 55,903,505(+) AATGT(A/G)TAATG intron-variant
rs1430196 -- 55,904,009(+) TAAGA(A/G)GCAGC intron-variant
rs1430197 -- 55,907,692(+) AACCC(A/G)GGTTG intron-variant
rs2033316 -- 55,913,396(+) ATTGG(A/G)CATTC 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

Variation tolerance for EFEMP1 Gene

Residual Variation Intolerance Score: 17.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.31; 26.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EFEMP1 Gene

HapMap Linkage Disequilibrium report
EFEMP1
Human Gene Mutation Database (HGMD)
EFEMP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EFEMP1 Gene

Disorders for EFEMP1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for EFEMP1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
doyne honeycomb degeneration of retina
  • doyne honeycomb retinal dystrophy
familial drusen
  • dhrd
macular dystrophy, vitelliform, 5
  • vmd5
malignant glioma
  • glioma
wolfram syndrome
  • diabetes mellitus and insipidus with optic atrophy and deafness
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for EFEMP1

Genetic Association Database (GAD)
EFEMP1
Human Genome Epidemiology (HuGE) Navigator
EFEMP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EFEMP1
genes like me logo Genes that share disorders with EFEMP1: view

No data available for Genatlas for EFEMP1 Gene

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 67
  2. Epidermal growth factor-containing fibulin-like extracellular matrix protein 1, EFEMP1, a novel tumor-suppressor gene detected in hepatocellular carcinoma using double combination array analysis. (PMID: 19898900) Nomoto S. … Nakao A. (Ann. Surg. Oncol. 2010) 3 23
  3. A novel haplotype with the R345W mutation in the EFEMP1 gene associated with autosomal dominant drusen in a Japanese family. (PMID: 19850834) Takeuchi T. … Tsuneoka H. (Invest. Ophthalmol. Vis. Sci. 2010) 3 23
  4. EFEMP1 binds the EGF receptor and activates MAPK and Akt pathways in pancreatic carcinoma cells. (PMID: 19804359) Camaj P. … Bruns C.J. (Biol. Chem. 2009) 3 23
  5. EFEMP1 expression promotes in vivo tumor growth in human pancreatic adenocarcinoma. (PMID: 19208748) Seeliger H. … Bruns C.J. (Mol. Cancer Res. 2009) 3 23

Products for EFEMP1 Gene

Sources for EFEMP1 Gene

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