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Symbol FBN1 contributors: mct/npt/pgu - updated : 09-01-2018
HGNC name fibrillin 1 (Marfan syndrome)
HGNC id 3603
Corresponding disease
ACMICD acromicric dysplasia
ECTL ectopia lentis, isolated
GLSD2 geleophysic dysplasia 2
KPSI kyphoscoliosis, isolated, progressive, of variable severity
MFLS Marfan lipodystrophy syndrome
MFS1 Marfan syndrome 1
SGS Shprintzen-Goldberg syndrome of marfanoid habitus craniosynostosis
SSKS stiff skin syndrome
TAA thoracic aortic aneurysm
WMSAD Weill-Marchesani syndrome
Location 15q21.1      Physical location : 48.700.503 - 48.937.985
Synonym name
  • fibrillin 1 (Marfan syndrome)
  • fibrillin 15
  • Synonym symbol(s) FBN, MASS, OCTD, WMS
    TYPE functioning gene
    STRUCTURE 237.48 kb     66 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    motif repetitive sequence
    text structure
  • 47 EGF-like motifs (43 calcium-binding EGF repeats)
  • a single CpG-rich promoter which was highly conserved in mammals with potential binding sites for a number of factors implicated in mesenchyme differentiation and gene expression
  • MAPPING cloned Y linked Y status confirmed
    Physical map
    SLC30A4 15q15-q21.1 solute carrier family 30 (zinc transporter), member 4 FLJ39426 15q15.1 hypothetical protein FLJ39426 PLDN 15q14 pallidin homolog (mouse) SQRDL 15q15 sulfide quinone reductase-like (yeast) LOC145660 15q15.1 hypothetical LOC145660 SEMA6D 15q15.2 sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D LOC283652 MYEF2 15q15.1 myelin expression factor 2 SLC12A1 15q15-q21 solute carrier family 12 (sodium/potassium/chloride transporters), member 1 DUT 15q21.1 dUTP pyrophosphatase FBN1 15q21.1 fibrillin 1 (Marfan syndrome) LOC388119 15 similar to Oxr1 protein KIAA0912 15q15.3 KIAA0912 protein CRI1 15q21.1-q21.2 CREBBP/EP300 inhibitory protein 1 LOC390582 15 similar to keratin 8; cytokeratin 8; keratin, type II cytoskeletal 8 KIAA0256 15q15.3 KIAA0256 gene product TRIP15 15q21.2 KIAA0256 gene product LOC390583 15 similar to Protein C6orf66 (HSPC125) (My013 protein) GALK2 15q21.1 galactokinase 2 FLJ32800 15q15.3 hypothetical protein FLJ32800 LOC390584 15 similar to putative intramembrane cleaving protease; presenilin-like protein 2; intramembrane protease 3 FGF7 15q15-q21.1 fibroblast growth factor 7 (keratinocyte growth factor) MDS009 15q15.3 x 009 protein LOC388120 15 hypothetical gene supported by BC013357; NM_016120 ATP8B4 15q15.3 ATPase, Class I, type 8B, member 4 SLC27A2 15q21.2 solute carrier family 27 (fatty acid transporter), member 2 HDC 15q15-q21 histidine decarboxylase GABPB2 15q15.2 GA binding protein transcription factor, beta subunit 2, 47kDa FLJ10038 15q15.3 hypothetical protein FLJ10038 USP8 6p21.3 ubiquitin specific protease 8 TRPM7 15q21 transient receptor potential cation channel, subfamily M, member 7 SPPL2A 15q15.3 putative intramembrane cleaving protease AP4E1 15q15.2 adaptor-related protein complex 4, epsilon 1 subunit LOC388121 15 similar to TNF-induced protein CYP19A1 15q21.1 cytochrome P450, family 19, subfamily A, polypeptide 1 FLJ11181 15q15.3 hypothetical protein FLJ11181
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    66 - 11695 - 2871 - 2009 19573590
    - splicing - - - - 2011 21726527
  • contains a cryptic 105 basepair exon between exons 54 and 55
  • predicted to produce non-functional protein
  • - splicing - - 2217 adult brain 2011 21726527
  • contains a cryptic 62 basepair exon between exons 57 and 58
  • truncated fibrillin protein of 2217 amino acids
  • since the 57A insertion creates a premature stop codon that mimics Marfan-associated mutations, the protein encoded by 57A-FBN1 is likely to not be functional
  • may regulate fibrillin expression and disease severity
  • represents a significant portion of total FBN1 expression
    Type ubiquitous
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately Homo sapiens
     vesselaorta  moderately Homo sapiens
    Digestiveliver   lowly Homo sapiens
    Nervousbrain   moderately Homo sapiens
    Respiratorylung   moderately Homo sapiens
    Skin/Tegumentskin   highly Homo sapiens
    Urinarykidney   moderately Homo sapiens
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    Connectivebone  highly Homo sapiensAdult
    Muscularsmooth  highly Homo sapiens
    SystemCellPubmedSpeciesStageRna symbol
    not specificadipocyte
    cell lineage
    cell lines
    at STAGE
  • 47 EGF-like repeats (43 with a calcium binding consensus sequence),several cysteine-rich modules
  • a RGD motif, seven transforming growth factor beta 1-binding protein-like domains (LTBP)
  • a proline-rich region and two FIB motifs
  • unique N and C termini
  • two distinct regions bound to ADAMTS10, one in the N-terminal half and another in the C-terminal half
  • conjugated GlycoP
    isoforms Precursor profibrilin-1 is a 350 Kda cysteine-rich glycoprotein
  • fibrillin family
  • CATEGORY structural protein
    text microfibrils, colocalizing with FBNL2, basement membrane
    basic FUNCTION
  • involved in the maintenance of elastic fibers and anchoring epithelial cells to the interstitial matrix
  • with FBN2, regulate lung fibroblast migration
  • glycoprotein component of the extracellular microfibrils
  • FBN1 and FBN2, the structural components of extracellular microfibrils, differentially regulate TGFbeta and bone morphogenetic protein (BMP) bioavailability in bone
  • FBN2 exerts a greater positive influence on the mechanical properties of bone than FBN1 assemblies, and the above findings are mostly, if not exclusively, related to the differetial control of TGFbeta family signaling by fibrillin proteins 2)
  • both FBN1 and FBN2 are essential for the formation of thick oxytalan fibers in the ciliary zonule and are informative for clarifying the mechanism of homeostasis of the ocular matrix
  • FBN1, FBN2, FBN3, are important in maintaining the structure and integrity of the extracellular matrix and, in combination with their sequence family members the LTBPs, also contribute to the regulation of the TGFB family of major growth factors
  • both FBN1 and FBN2 expression is required to form thick oxytalan fibers in the periodontal ligament (PDL)
  • FBN1 regulates mesenchymal stem cells [MSCs] activity by modulating TGFB1 bioavailability within the microenvironment of marrow niches
  • FBN1-microfibrils influence adult bone marrow hematopoiesis
    signaling sensory transduction/vision
    a component
  • major constituent of extracellular matrix
    small molecule
  • up-regulating MMP1 and MMP3 through the RGD motif (role in the progressive breakdown of microfibrils and in the pathogenesis of Marfan syndrome)
  • binding THSD4
  • ADAMTS10 binds to fibrillin-1
  • bind to LTBPs (latent transforming growth factor beta binding proteins) to assist in this process and is thus involved in regulating the bioavailability of TGFB
  • FBN1, acts at the downstream of AURKA and BRCA2, promotes ovarian cancer metastasis through the TP53 and SNAI2-associated signaling
  • cell & other
    Other furin mediated
    corresponding disease(s) ECTL , MFS1 , SGS , KPSI , TAA , WMSAD , SSKS , ACMICD , GLSD2 , MFLS
    related resource Marfan Database - Fibrillin-1 gene mutations
    Susceptibility to sporadic thoracic aortic aneurysms and dissections (STAAD)
    Variant & Polymorphism SNP , other
  • common genetic variants at 15q21.1 that probably act via FBN1 are associated with STAAD
  • Candidate gene
    Therapy target
    decrease the proportion of FBN1 expressed as 57A-FBN1 represents a potential therapeutic modality in Marfan syndrome
  • decreased expression of Fbn1 during morphogenesis of the fetal diaphragm may disrupt mesenchymal cell proliferation, causing malformed muscle connective tissue (MCT) and thus resulting in diaphragmatic defects in the nitrofen-induced congenital diaphragmatic hernia (CDH) model