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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
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)