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FLASH GENE
Symbol MFAP5 contributors: mct - updated : 07-04-2014
HGNC name microfibrillar associated protein 5
HGNC id 29673
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • RGD integrin-binding motif located at the N terminus, and the N terminal lacking proline, glutamine and tyrosine-rich sequences
  • serine threonine residues,
  • C-terminal sequence similar to the matrix-binding domain of MFAP2 with 7 cysteine residues
    • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY small microfibril-associated proteins family
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    intracellular,cytoplasm,cytoskeleton,intermed filament
    text extracellular elastin-associated microfibrils
    basic FUNCTION
  • extracellular matrix structural constituent
  • exhibits a restricted tissue and developmental pattern of distribution,and itmay have a specialized role than in microfibril biology
  • protein component of fibrillin-containing microfibrils where it partners with MFAP2 and other microfibril-associated proteins to define microfibril function
  • plays an important role in the physiology of the ECM through interactions with different microfibrillar components such as fibrillin-1, fibrillin-2, fibulin-1, and tropoelastine
  • through alpha(V)beta(3) integrin-mediated signaling, MFAP5 promotes tumor and endothelial cell survival and endothelial cell motility
  • it is possible that MFAP5 is related to extracellular matrix (ECM) remodeling during development of obesity
  • is a secreted protein associated with multiple cellular activities including the organization of elastic fibers in the extracellular matrix (ECM), angiogenesis, as well as regulating Notch and integrin signaling
  • has functional roles in hematopoiesis and in vessel wall maintenance
  • MFAP2 and MFAP5 have discrete functions in hematopoiesis
  • has unique, MFAP2-independent functions in hematopoiesis and MFAPs have redundant functions in large vessels
  • unlike MFAP2, MFAP5 has little or no role in normal bone homeostasis
  • plays a role in the biology of the hematopoietic and vascular systems, suggesting that MFAP5 is capable of regulating growth factor bioavailability
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • forms intermolecular disulfide bonds either with other MAGP2 molecules or with other components of the microfibrils
  • component of microfibrils of the extracellular matrix
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding distinct regions of FBN1
  • covalently associated with fibrillin-containing microfibrils
  • MFAP2 and MFAP5 both have the ability to bind NOTCH1, JAG1, JAG2, and Delta1
  • binds active TGFB1, TGFB2, and BMP2
    • cell & other
  • interacts with elastin fibers and the microfibrillar network
    • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) TAAD7
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in ovarian cancer correlated with microvessel density suggesting a proangiogenic role, and may serve as a survival-associated target 0)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Mfap5 -/- mice have a neutrophil deficiency
  • homozygous Mfap5 knockout mice display only hematopoietic features characterized by neutropenia