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FLASH GENE
Symbol EFEMP1 contributors: mct/npt/shn - updated : 24-07-2010
HGNC name EGF-containing fibulin-like extracellular matrix protein 1
HGNC id 3218
Corresponding disease
DHRD Doyne honeycomb retinal dystrophy
Location 2p16.1      Physical location : 56.093.102 - 56.150.932
Synonym name
  • fibrillin-like
  • fibulin 3
  • extracellular protein S1-5
  • Synonym symbol(s) FBNL, DHRD, DRAD, MLVT, FBLN3, MTLV, S1-5, FLJ35535, MGC111353, FIBL-3
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    STRUCTURE 57.83 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   HRE
    text structure proximal promoter within 425 bp upstream of exon 1, regulatory elements include three Sp1-binding sites, a Tat motif (trans-activating) and an estrogen response element (ERE) binding site (trans-repressing)
    MAPPING cloned Y linked N status confirmed
    Map pter - D2S2251 - D2S2153 - EFEMP1 - D2S378 - D2S2279 - cen
    RNA
    TRANSCRIPTS type messenger
    text
  • alternative splicing in the 5'UTR region resulting in three transcript variants
  • transcript variants encoding the same product
  • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 splicing 2936 54 493 - Lim (2006)
  • 11 exons tramscript
  • lacking exon 1
  • containing exon 2a (longer than 2b)
  • encoding for the same product as variants 2 & 3
  • 12 splicing 2741 56 493 - Lim (2006)
  • 12 exons tramscript
  • containing exon 2b (shorter than 2a)
  • encoding for the same product as variants 1 & 3
  • 11 splicing 2700 54 493 - Lim (2006)
  • 11 exons tramscript
  • lacking exon 2
  • encoding for the same product as variants 1 & 2
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately
    Digestiveintestinesmall intestine  highly
     intestinelarge intestinecolon highly
     liver   lowly
    Endocrinepancreas   lowly
    Lymphoid/Immunespleen   highly
     thymus   highly
    Reproductivefemale systemplacenta  highly
     female systemovary  highly
     male systemtestis  moderately
     male systemprostate  highly
    Respiratorylung   highly
    Urinarykidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal moderately
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • tandemly repeated epidermal growth factor-like repeats
  • a C-terminus fibulin-type domain
  • conjugated GlycoP
    isoforms Precursor a 1,9 kDA signal peptide
    HOMOLOGY
    interspecies homolog to Efemp1, Rattus norvegicus
    ortholog to Efemp1, Mus musculus
    Homologene
    FAMILY
  • fibulin family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • has a role in retinal drusen formation
  • involved in etiology of macular degeneration
  • involved in Malattia Leventiness
  • R345W substitution leading to maculopathy
  • upregulated gene in the epiphyseal region, that reduces angiogenic sprouting, inhibits matrix metalloproteinase expression and activity, and stimulates tissue inhibitor of metalloproteinase expression (Shapiro 2009)
  • important negative regulator in chondrocyte differentiation, may play an important role as a negative regulator of chondrocyte differentiation (Wakabayashi 2010)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • constituent of extracellular matrix
  • INTERACTION
    DNA
    RNA
    small molecule other,
  • having calcium ion binding activity
  • protein
  • Tissue inhibitor of metalloproteinases-3, TIMP-3 (Klenotic et al, 2004)
  • cell & other
    REGULATION
    Other regulated by estrogen
    ASSOCIATED DISORDERS
    corresponding disease(s) DHRD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    reduced the expression of SOX5 and SOX6, while it maintained the expression of SOX9 (Wakabayashi 2010)
    tumoral     --over  
    uniquely upregulated in malignant gliomas and promotes tumor cell motility and invasion (Hu 2009)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
  • could be a potential target against tumor progression in gliomas (Hu 2009)
  • promising candidate for assessing prognosis and individualizing therapy in a clinical tumor setting (Seeliger 2009)
  • ANIMAL & CELL MODELS
  • Efemp1(-/-) mice exhibit reduced reproductivity, early onset of aging-associated phenotypes including reduced lifespan, decreased body mass, lordokyphosis, reduced hair growth, and generalized fat, muscle and organ atrophy (McLaughlin et al, 2007)
  • Efemp1(-/-) mice on a C57BL/6 genetic background develop multiple large hernias with inguinal hernias, pelvic prolapse and protrusions of the xiphoid process whereas Efemp1(-/-) mice on a BALB/c background rarely have any forms of hernias (McLaughlin et al, 2007)
  • Efemp1-R345W knockin mice develop deposits of material between Bruch's membrane and the RPE, which resemble basal deposits in patients with Age-related macular degeneration (Fu et al, 2007)
  • heterozygous and homozygous mice Efemp1 knock-in mice (R345W) develop small isolated sub-RPE deposits at 4 months of age (Marmorstein et al, 2007)