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Symbol FBLN1 contributors: mct - updated : 20-02-2019
HGNC name fibulin 1
HGNC id 3600
Corresponding disease
MRCLUG mental retardation with cerebral, limb and urogenital anomalies
PSDY3 polysyndactyly 3
Location 22q13.31      Physical location : 45.898.718 - 45.997.014
Synonym symbol(s) FBLN, FIBL1
TYPE functioning gene
STRUCTURE 98.30 kb     15 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Binding site   enhancer   transcription factor
text structure
  • a TATA-like sequence (ATAATT)
  • multiple consensus binding sites for Sp1 and activator protein 2 (AP2)
  • MAPPING cloned Y linked   status confirmed
    Physical map
    YWHAQP2 22q12-qter YWHAQ pseudogene 2 HMG17L1 22q13.31 high-mobility group (nonhistone chromosomal) protein 17-like 1 SULT4A1 22q13.2-q13.31 sulfotransferase family 4A, member 1 LOC150379 22q13.31 GS2 like C22orf20 22q13.31 chromosome 22 open reading frame 20 CGI-51 22q13.31 CGI-51 protein PARVB 22q13.2-q13.33 parvin, beta TRSPP1 22q11 tRNA phosphoserine (opal suppressor) pseudogene 1 PARVG 22q13.2-q13 parvin, gamma LOC388909 22 LOC388909 MRPS18CP6 22q13.31 mitochondrial ribosomal protein S18C pseudogene 6 DKFZp761O17121 22q13.31 hypothetical protein DKFZp761O17121 LOC129186 22q13.31 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) LOC388910 22 LOC388910 ARHGAP8 22q13.31 Rho GTPase activating protein 8 LOC112885 22q13.31 hypothetical protein BC012187 NUP50 22q13.31 nucleoporin 50kDa KIAA0930 22q13.31 nucleoporin 50kDa UPK3A 22q13.31 uroplakin 3A FLJ20635 22q13 hypothetical protein FLJ20635 SMC1L2 22q13.31 SMC1 structural maintenance of chromosomes 1-like 2 (yeast) DKFZP566F0546 22q13.31 DKFZP566F0546 protein FBLN1 22q13.31 fibulin 1 LOC388911 22 LOC388911 E46L 22q13.31 LOC388911 LOC388912 22 LOC388912 FLJ10945 22q13.31 hypothetical protein FLJ10945 LOC388913 22 similar to seroreactive antigen BMN1-2 LOC150381 22q13.31 hypothetical protein LOC150381 PPARA 22q13.3 peroxisome proliferative activated receptor, alpha MGC2452 22q13.31 hypothetical protein MGC2452 LOC150383 22q13.31 similar to RIKEN cDNA 2210021J22 PKDREJ 22q13.32 polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like FLJ20699 22q13 hypothetical protein FLJ20699 GTSE1 22q13.2-q13.3 G-2 and S-phase expressed 1 FLJ10140 22q13 hypothetical protein FLJ10140 CELSR1 22q13.32 cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) KIAA0767 22q13.31 cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) CERK 22q13.31 ceramide kinase C22orf4 22q13.3 chromosome 22 open reading frame 4
    TRANSCRIPTS type messenger
    text four splice variants differing in the 3' end (C terminal region)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - - - - - 2015 25661773
  • lacks a secretion sequence and the anaphlatoxin region of fibulin-1 variants
  • might play a role in early embryo development as well as in modulating integrin beta1 functions including adhesion and motility
  • 15 splicing 2485 - 566 weakly 2015 25661773
  • variant A
  • including exon 15
  • lacking exon 16 to 20
  • 15 splicing 2662 65.4 601 weakly 2015 25661773
  • variant B
  • including exon 17
  • lacking exons 15, 16, 18, 19 and 20
  • 15 splicing 2313 74.4 683 ovarian tissues and and cancer cell lines 2015 25661773
  • varaint C
  • including exon 16
  • lacking exons 15 and 17 to 20
  • 18 splicing 2947 77.3 703 ovarian tissues and and cancer cell lines 2015 25661773
  • variant D
  • including exons 18, 19 and 20
  • lacking exons 15 and 16
  • variant-D inactivation associated to autosomal-dominant giant platelet syndromes(FTNS)
    Type ubiquitous
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen   highly
    Cardiovascularvessel   highly Homo sapiens
    Nervousbrain   highly
    Reproductivemale systemprostate  highly
    Respiratorylung     Homo sapiens
    Skin/Tegumentskin     Homo sapiens
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivecartilage    Homo sapiens
    cell lineage during development, it is prominently expressed in the neural crest cells
    cell lines
    at STAGE
    physiological period fetal, pregnancy
    Text highly, in endocardium during development
  • nine extracellular, Ca2+ binding EGF-like repeats, nine tandem EGF-like domains that are present in many extracellular proteins and have crucial role in their diverse functions, and the fifth EGF-like domain is a calcium-binding domain that has been shown to have a role in the localization of the protein and its self-interaction, as well as interaction with other proteins such as hemicentin
  • a signal peptide
  • three anaphylatoxin-like domains (potential disulfide loop structure)
  • conjugated GlycoP
    interspecies homolog to murine Fbln1
    homolog to Drosophila CG10323
    homolog to C.elegans F56H11.1C
    intraspecies homolog to anaphylatoxins C3a,C4a,C5a
    FAMILY growing family of extracellular glycoproteins
    CATEGORY structural protein
    text extracellular matrix
    basic FUNCTION
  • mediating platelet adhesion via binding fibrinogen
  • regulator of ADAMTS1-mediated proteoglycan proteolysis and thus may play an important role in proteoglycan turnover in tissues where there is overlapping expression
  • is required for the directed migration and survival of cranial neural crest cell (NCC) contributing to the development of pharyngeal glands, craniofacial skeleton, cranial nerves, aortic arch arteries, cardiac outflow tract and cephalic blood vessels
  • like TNC, FBLN1 inhibits fibroblast spreading and cell-mediated contraction of a fibrin-FN matrix
  • extracellular matrix protein that has an important role in the structure of elastic fibers and basement membranes of various tissues
  • FBLN1 has crucial role in development of the central nervous system and various connective tissues
  • involved in numerous processes including cardiovascular and lung development
  • FBLN1 is a new positive modulator of the formation of membranous bone and endochondral bone in the skull, acting as a positive regulator of BMP signaling
  • FBLN1 is required for bone formation and BMP2-mediated induction of SP7
  • FBLN1 normally suppresses proximal cardiac outflow tract (OFT) mesenchymal transition (EMT) preventing proximal cushion hypercellularity and blood cell accumulation
  • has also been implicated in embryonic development of the heart and neural crest-derived structures
  • important extracellular matrix (ECM) protein involved in matrix organization, may be involved in the pathogenesis of respiratory diseases
  • contributes to the structure of the extracellular matrix
  • ACAN and FBLN1 have likely critical roles in determining the biomechanics of the aorta and their modification with age could underpin age-related aortic stiffening
    a component constituent of extracellular matrix protein
    small molecule metal binding,
    calcium Ca2+
  • binding to laminin (LAMC2) nidogen and fibronectin
  • FBLN1 regulates VCAN-dependent events in ventricular morphogenesis by promoting ADAMTS1 cleavage of VCAN leading to suppression of trabecular cardiomyocyte proliferation mediated by the ERBB2-Map kinase pathway
  • CALU binds to and stabilizes FBLN1, leading to inactivation of extracellular signal-regulated kinases 1 and 2 (ERK1/2) signaling
  • MMP13 proteolyzes FBLN1 and CALU protects FBLN1 from cleavage by MMP13
  • cell & other
    induced by estradiol in estrogen receptor (ER) ovarian cancer cell lines
    corresponding disease(s) PSDY3 , MRCLUG
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   translocation    
    translocation t(12;22)(p11.2;q13.3) in a complex type of synpolydactyly
    haploinsufficence of variant D in synpolydactyly
    tumoral     --over  
    of FBLN1C and FBLN1D in ovarian cancer
    constitutional       loss of function
    of variant D in autosomal-dominant giant platelet syndromes(FTNS)
    tumoral     --low  
    promoter hypermethylation of FBLN1 is associated with tumor progression in cutaneous melanoma
    tumoral     --low  
    in renal cell carcinoma through promoter hypermethylation
    Variant & Polymorphism
    Candidate gene
  • serum FBLN1 and STK31 are biomarkers of colorectal cancer, having ability to noninvasively differentiate colorectal cancer from benign polyps
  • changes in VIM and FBLN1 methylation levels in cell-free DNA (cfDNA) are associated with Hepatocellular carcinoma (HCC) and could represent useful plasma-based biomarkers
  • plasma levels of FBLN1 could serve as a potential indicator to monitor kidney malfunction or kidney damage
  • Therapy target
  • Fbln1c-/- mice also had reduced airway remodeling in experimental chronic asthma and pulmonary fibrosis