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FBLN1 Gene

protein-coding   GIFtS: 66
GCID: GC22P045898

Fibulin 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Fibulin 11 2
FBLN2
FIBL12
fibulin-12
FIBL-13

External Ids:    HGNC: 36001   Entrez Gene: 21922   Ensembl: ENSG000000779427   OMIM: 1358205   UniProtKB: P231423   

Export aliases for FBLN1 gene to outside databases

Previous GC identifers: GC22P042534 GC22P044175 GC22P044219 GC22P028859


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for FBLN1 Gene:
Fibulin 1 is a secreted glycoprotein that becomes incorporated into a fibrillar extracellular matrix.
Calcium-binding is apparently required to mediate its binding to laminin and nidogen. It mediates platelet
adhesion via binding fibrinogen. Four splice variants which differ in the 3' end have been identified. Each
variant encodes a different isoform, but no functional distinctions have been identified among the four variants.
(provided by RefSeq, Jul 2008)

GeneCards Summary for FBLN1 Gene:
FBLN1 (fibulin 1) is a protein-coding gene. Diseases associated with FBLN1 include vitreoretinal dystrophy, and synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses. GO annotations related to this gene include peptidase activator activity and calcium ion binding. An important paralog of this gene is LTBP3.

UniProtKB/Swiss-Prot: FBLN1_HUMAN, P23142
Function: Incorporated into fibronectin-containing matrix fibers. May play a role in cell adhesion and migration
along protein fibers within the extracellular matrix (ECM). Could be important for certain developmental
processes and contribute to the supramolecular organization of ECM architecture, in particular to those of
basement membranes. Has been implicated in a role in cellular transformation and tumor invasion, it appears to be
a tumor suppressor. May play a role in haemostasis and thrombosis owing to its ability to bind fibrinogen and
incorporate into clots. Could play a significant role in modulating the neurotrophic activities of APP,
particularly soluble APP

Gene Wiki entry for FBLN1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000022.11  NC_018933.2  NT_011520.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the FBLN1 gene promoter:
         AP-2alpha isoform 3   AP-2alpha isoform 2   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFBLN1 promoter sequence
   Search Chromatin IP Primers for FBLN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FBLN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.31   Ensembl cytogenetic band:  22q13.31   HGNC cytogenetic band: 22q13.31

FBLN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FBLN1 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P045898:  view genomic region     (about GC identifiers)

Start:
45,898,118 bp from pter      End:
45,997,015 bp from pter
Size:
98,898 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: FBLN1_HUMAN, P23142 (See protein sequence)
Recommended Name: Fibulin-1 precursor  
Size: 703 amino acids; 77214 Da
Subunit: Homomultimerizes and interacts with various extracellular matrix components such as FN1, LAMA1, LAMA2,
NID, ACAN, CSPG2 and type IV collagen. Interacts also with APP, NOV, FGB and HPV type 16, HPV type 18, HPV type
31 and BPV type 1 E6 proteins. Interacts with FBLN7 (By similarity)
Developmental stage: Widely expressed during embryonic development. Prominent in the matrix of the leptomeningeal
anlage, in basement membranes of the neuroepithelium and the perineurium of peripheral nerves. In embryos of
gestational week (gw) 4, staining was observed in the early mesenchymal bone anlagen. In gw 6.5 and 8, all
perichondrial structures showed expression but the chondrocytes themselves showed no staining. In gw 10,
expression is prominent in the interterritorial matrix surrounding the hypertrophic chondrocytes
Sequence caution: Sequence=AAG17241.1; Type=Frameshift; Positions=116, 619, 639;
Secondary accessions: B0QY42 P23143 P23144 P37888 Q5TIC4 Q8TBH8 Q9HBQ5 Q9UC21 Q9UGR4 Q9UH41
Alternative splicing: 4 isoforms:  P23142-1   P23142-2   P23142-3   P23142-4   (Ref.4 (AAG17241) sequence is in conflict in positions: 650:E->K, 662:L->F, 680:SAE->FAK)

Explore the universe of human proteins at neXtProt for FBLN1: NX_P23142

Explore proteomics data for FBLN1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn98, Asn535, Asn539

  • See FBLN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001987.2  NP_006476.2  NP_006477.2  NP_006478.2  

    ENSEMBL proteins: 
     ENSP00000415289   ENSP00000404024   ENSP00000402963   ENSP00000385521   ENSP00000262722  
     ENSP00000331544   ENSP00000393812   ENSP00000342212   ENSP00000395329   ENSP00000396084  
     ENSP00000414584   ENSP00000415160   ENSP00000401077   ENSP00000262723  
    Reactome Protein details: P23142

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FBLN: Fibulins

    Selected InterPro protein domains (see all 9):
     IPR000742 EG-like_dom
     IPR026823 cEGF
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR018097 EGF_Ca-bd_CS
     IPR001881 EGF-like_Ca-bd_dom

    Graphical View of Domain Structure for InterPro Entry P23142

    ProtoNet protein and cluster: P23142

    2 Blocks protein domains:
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB001881 EGF-like calcium-binding


    UniProtKB/Swiss-Prot: FBLN1_HUMAN, P23142
    Similarity: Belongs to the fibulin family
    Similarity: Contains 3 anaphylatoxin-like domains
    Similarity: Contains 9 EGF-like domains


    FBLN1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FBLN1_HUMAN, P23142
    Function: Incorporated into fibronectin-containing matrix fibers. May play a role in cell adhesion and migration
    along protein fibers within the extracellular matrix (ECM). Could be important for certain developmental
    processes and contribute to the supramolecular organization of ECM architecture, in particular to those of
    basement membranes. Has been implicated in a role in cellular transformation and tumor invasion, it appears to be
    a tumor suppressor. May play a role in haemostasis and thrombosis owing to its ability to bind fibrinogen and
    incorporate into clots. Could play a significant role in modulating the neurotrophic activities of APP,
    particularly soluble APP
    Induction: Expression increased by estrogen in ovarian cancer cells

         Genatlas biochemistry entry for FBLN1:
    fibulin 1,calcium binding,extracellular matrix protein (90-100kDa),prominently expressed in endocardium during
    development

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005201extracellular matrix structural constituent TAS2269669
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
    GO:0016504peptidase activator activity IEA--
         
    FBLN1 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for FBLN1:
     Decreased viability of wild-ty  Decreased viability with carbo  Decreased viability with pacli  High actin ratio cells 

         15 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Fbln1):
     cardiovascular system  craniofacial  embryogenesis  endocrine/exocrine gland  growth/size/body 
     hearing/vestibular/ear  hematopoietic system  immune system  integument  limbs/digits/tail 
     mortality/aging  nervous system  renal/urinary system  respiratory system  skeleton 

    FBLN1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Fbln1tm1Tmpl for FBLN1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FBLN1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FBLN1

    miRNA
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    miRTarBase miRNAs that target FBLN1:
    hsa-mir-30a-3p (MIRT049926)

    Block miRNA regulation of human, mouse, rat FBLN1 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate FBLN1:
    hsa-miR-1283 hsa-miR-24 hsa-miR-1305
    SwitchGear 3'UTR luciferase reporter plasmidFBLN1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat FBLN1

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    GenScript: all cDNA clones in your preferred vector (see all 4): FBLN1 (NM_006487)
    Sino Biological Human cDNA Clone for FBLN1
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBLN1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FBLN1_HUMAN, P23142: Secreted, extracellular space, extracellular matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane2
    cytoskeleton1
    cytosol1
    lysosome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix TAS2269669
    GO:0005604basement membrane IEA--
    GO:0005615extracellular space IDA--
    GO:0031012colocalizes with extracellular matrix IDA--

    FBLN1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for FBLN1 About    
    See pathways by source

    SuperPathContained pathways About
    1Elastic fibre formation
    Elastic fibre formation0.73
    Molecules associated with elastic fibres0.73
    2Degradation of the extracellular matrix
    Extracellular matrix organization0.34
    3Cell adhesion Cell matrix glycoconjugates
    Cell adhesion Cell matrix glycoconjugates

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for FBLN1
        Cell adhesion Cell-matrix glycoconjugates


    1 Reactome Pathway for FBLN1
        Molecules associated with elastic fibres



    FBLN1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FBLN1
    Interactions:

        GeneGlobe Interaction Network for FBLN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for FBLN1 (P231422, 3 ENSP000003315444) via UniProtKB, MINT, STRING, and/or I2D (see all 45)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GFI1BQ5VTD92, 3, ENSP000003447824MINT-2858799 I2D: score=3 STRING: ENSP00000344782
    ATN1P542592, 3, ENSP000003490764MINT-2858780 MINT-2858761 I2D: score=3 STRING: ENSP00000349076
    SKILP127572, 3, ENSP000002591194MINT-61641 I2D: score=3 STRING: ENSP00000259119
    SMAD4Q134852, 3, ENSP000003415514MINT-61947 I2D: score=3 STRING: ENSP00000341551
    APPP050673, ENSP000002849814I2D: score=3 STRING: ENSP00000284981
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007566embryo implantation IEA--
    GO:0010952positive regulation of peptidase activity ----
    GO:0016032viral process IEA--
    GO:0019048modulation by virus of host morphology or physiology ----
    GO:0030198extracellular matrix organization TAS--

    FBLN1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FBLN1

    8 Novoseek inferred chemical compound relationships for FBLN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neurocan 72.1 1 10400671 (1)
    matrigel 31.1 2 17483339 (2)
    estrogen 28.2 9 9811350 (3), 9699869 (1), 9841098 (1), 10465000 (1) (see all 6)
    estradiol 28.1 7 9466671 (4), 11850827 (2), 8552629 (1)
    fibrinogen 24.9 28 8839849 (8), 7642629 (7), 19693531 (5), 9278415 (1)
    progesterone 21.8 5 15774544 (2), 9811350 (1), 14503970 (1), 10465000 (1)
    calcium 9.4 10 9278415 (5), 8737292 (1), 9299350 (1), 15556863 (1)
    heparin 0 1 11733994 (1)



    FBLN1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for FBLN1 gene (4 alternative transcripts): 
    NM_001996.3  NM_006485.3  NM_006486.2  NM_006487.2  

    Unigene Cluster for FBLN1:

    Fibulin 1
    Hs.24601  [show with all ESTs]
    Unigene Representative Sequence: AK128725
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000411478 ENST00000445110 ENST00000455233 ENST00000402984(uc010gzz.3)
    ENST00000262722(uc003bgh.3) ENST00000327858(uc003bgj.1) ENST00000442170(uc003bgi.1)
    ENST00000340923(uc003bgg.1) ENST00000439835 ENST00000450975 ENST00000454279
    ENST00000451475 ENST00000437711 ENST00000460538 ENST00000465578 ENST00000484531
    ENST00000476366 ENST00000460300
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      QuantiTect SYBR Green Assays in human, mouse, rat FBLN1
      QuantiFast Probe-based Assays in human, mouse, rat FBLN1

    Additional mRNA sequence: 

    AF126110.1 AF217999.1 AK075460.1 AK075566.1 AK093339.1 AK095988.1 AK128725.1 AK300806.1 
    AK316291.1 BC022497.1 BC131605.1 U01244.1 X53741.1 X53742.1 X53743.1 

    Selected DOTS entries (see all 77):

    DT.100842172  DT.91774959  DT.100890902  DT.100890919  DT.86854843  DT.100890993  DT.87078245  DT.100773181 
    DT.100890966  DT.100890953  DT.100840815  DT.100045388  DT.100890926  DT.100890964  DT.100833913  DT.100890994 
    DT.100890974  DT.120662483  DT.100890931  DT.120662380  DT.120662400  DT.100890927  DT.100891020  DT.120662497 

    Selected AceView cDNA sequences (see all 1331):

    BM795716 CR621956 BG287678 Z38460 BQ670182 BM685400 AI924864 BX339744 
    BX380940 AW136351 AW137566 BM055403 BM663147 BX357668 CD108913 CR597928 
    R41668 AI754565 NM_001996 BE900440 CD515385 BG827383 CR607226 CR601275 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for FBLN1 (see all 9)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^
    SP1:                    -                                   -                                   -                                                     -     -   
    SP2:                    -           -     -                 -                                   -                                                     -     -   
    SP3:                                                        -                                   -                                                     -         
    SP4:                    -                                   -                                   -                                                     -         
    SP5:                    -                                   -                                   -                                                     -     -   

    ExUns: 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b
    SP1:  -                       -               
    SP2:  -                       -               
    SP3:                                          
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for FBLN1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FBLN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGCTGGCCA
    FBLN1 Expression
    About this image


    FBLN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 20) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 4 entries
             Endocardial Cushion Cells Atrioventricular Endocardial Cushion
             Coronary Vessels
     
     Tooth (Integumentary System)    fully expand to see all 6 entries
             Dental Placode Cells Dental Placode
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
             N2/LSB/S/F8/CHIR-induced cells
     
     Epithelial Cells
             Dental Placode Cells Dental Placode
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Foregut
    FBLN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FBLN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.24601

    UniProtKB/Swiss-Prot: FBLN1_HUMAN, P23142
    Tissue specificity: Isoform A and isoform B are only expressed in placenta. Isoform C and isoform D are expressed
    in a variety of tissues and cultured cells

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for FBLN1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fbln11 , 5 fibulin 11, 5 84.71(n)1
    85.47(a)1
      15 (40.27 cM)5
    141141  NM_010180.21  NP_034310.21 
     852059495 
    chicken
    (Gallus gallus)
    Aves FBLN11 fibulin 1 72.16(n)
    74.48(a)
      373979  NM_204165.1  NP_989496.1 
    lizard
    (Anolis carolinensis)
    Reptilia FBLN16
    fibulin 1
    73(a)
    1 ↔ 1
    5(84104288-84190007)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.150542 Xenopus laevis, clone IMAGE4888121, mRNA 78.09(n)    BC043745.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fbln12 fibulin 1 76.62(n)   30240  AF013751.1 
    worm
    (Caenorhabditis elegans)
    Secernentea fbl-11 fbl-1 44.17(n)
    37.97(a)
      177788  NM_001028066.4  NP_001023237.1 


    ENSEMBL Gene Tree for FBLN1 (if available)
    TreeFam Gene Tree for FBLN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FBLN1 gene
    LTBP32  HMCN12  SCUBE32  FBLN52  MEGF62  EFEMP12  LTBP42  SCUBE12  
    EFEMP22  LTBP22  HMCN22  LTBP12  FBLN22  SCUBE22  
    14 SIMAP similar genes for FBLN1 using alignment to 12 protein entries:     FBLN1_HUMAN (see all proteins):
    DKFZp762L185    F7    F9    PROS1    NELL2    DKFZp586A1519
    HMCN2    FBN3    FBLN7    FBLN5    FBLN2    HMCN1
    MBP1    EFEMP2

    FBLN1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FBLN1 (see all 2712)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs713151421,2
    C--28852428(+) TTTTT-/T/TT  
            
    GAGAC
    4 -- int11NA 2
    rs717791591,2
    C--28896525(+) ATATA-/ATATATATATATA
    TATAAAATGGAAT
    /TA
    AAATG
    4 -- int10--------
    rs738906911,2
    C--28909889(+) CTGTAG/AGGGAA 1 -- int13Minor allele frequency- A:0.20WA CSA 5
    rs781457541,2
    --28909902(+) CTCCTT/CCTGTA 1 -- int12Minor allele frequency- C:0.25NA CSA 4
    rs1132801811,2
    C--28909970(+) GGGGAG/ATGCTC 1 -- int11Minor allele frequency- A:0.50WA 2
    rs622250361,2
    C--28910064(+) CTCCTT/CCTGTA 1 -- int12Minor allele frequency- C:0.00WA NA 4
    rs622250371,2
    C--28910070(+) CTGTAG/AGGGAA 1 -- int11Minor allele frequency- A:0.00NA 2
    rs738906931,2
    C,F--28910102(+) CTCCTT/CCTGTA 1 -- int11Minor allele frequency- C:0.00WA 2
    rs2007556951,2
    --28915259(+) CCTCT-/TCTCTGC 1 -- int10--------
    rs106543551,2
    C--28915260(+) CTCTT-/CC    
       T
    /CTC
    CTGCC
    2 -- cds12NA CSA 4

    HapMap Linkage Disequilibrium report for FBLN1 (45898118 - 45997015 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for FBLN1 (see all 23):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv4701CNV Deletion18987735
    esv2724407CNV Deletion23290073
    esv2724409CNV Deletion23290073
    esv2724404CNV Deletion23290073
    esv2814CNV Deletion18987735
    esv2724405CNV Deletion23290073
    esv2724408CNV Deletion23290073
    esv2368023CNV Deletion18987734
    esv2595833CNV Insertion19546169
    nsv191287CNV Loss16902084

    Human Gene Mutation Database (HGMD): FBLN1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FBLN1
    DNA2.0 Custom Variant and Variant Library Synthesis for FBLN1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 135820   
    OMIM disorders: 608180  
    UniProtKB/Swiss-Prot: FBLN1_HUMAN, P23142
  • Note=A chromosomal aberration involving FBLN1 is found in a complex type of synpolydactyly referred to as
    3/3-prime/4 synpolydactyly associated with metacarpal and metatarsal synostoses. Reciprocal translocation
    t(12;22)(p11.2;q13.3) with RASSF8. Fibroblasts derived from a patient with synpolydactyly displayed alterations
    in the level of isoform D splice variant incorporated into the ECM and secreted into the conditioned culture
    medium. By contrast, the expression of isoform C was not perturbed in the patients fibroblasts. Furthermore, no
    aberrant polypeptides were detected in extracts of cultured patients fibroblasts. The translocation t(12;22) may
    result in haploinsufficiency of the isoform D splice variant, which could lead to the observed limb malformation
  • Note=Elevated expression and altered processing of FBLN1 protein is associated with human breast cancer

  • Selected diseases for FBLN1 (see all 27):    
    About MalaCards
    vitreoretinal dystrophy    synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses    synpolydactyly 3    familial osteochondritis dissecans
    megalencephalic leukoencephalopathy with subcortical cysts    osteochondritis dissecans    bacterial meningitis    leiomyoma
    fibrosarcoma    meningitis    choroiditis    ovarian cancer
    ataxia    liver disease    bipolar disorder    asthma
    multiple sclerosis    renal cell carcinoma    breast cancer    cervicitis

    1 disease from the University of Copenhagen DISEASES database for FBLN1:
    Vitreoretinal dystrophy

    FBLN1 for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for FBLN1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ovarian cancer 34.7 9 8552629 (4), 9699869 (1), 9841098 (1), 11850827 (1)
    breast carcinoma 28.7 6 12858331 (2), 14691454 (2), 12160330 (1)
    breast cancer 23 18 17483339 (4), 14691454 (3), 12858331 (2), 15528301 (2) (see all 9)
    cysts 9.35 1 8552629 (1)
    metastasis 7.64 1 8552629 (1)
    tumors 6.31 12 18222970 (3), 9811350 (2), 9466671 (2), 12200142 (1) (see all 6)
    carcinoma 5.25 4 9811350 (2), 17929269 (1), 7534784 (1)
    cancer 1.74 8 11829738 (1), 9811350 (1), 12858331 (1), 17929269 (1) (see all 6)

    Genetic Association Database (GAD): FBLN1
    Human Genome Epidemiology (HuGE) Navigator: FBLN1 (3 documents)

    Export disorders for FBLN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for FBLN1 gene, integrated from 10 sources (see all 138):
    (articles sorted by number of sources associating them with FBLN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Fibulin binds to itself and to the carboxyl-terminal heparin-binding region of fibronectin. (PubMed id 1400330)1, 2, 3 Balbona K....Argraves W.S. (J. Biol. Chem. 1992)
    2. Fibulin is an extracellular matrix and plasma glycoprotein with repeated domain structure. (PubMed id 2269669)1, 2, 3 Argraves W.S.... Dickerson K. (J. Cell Biol. 1990)
    3. The interaction of fibulin-1 with fibrinogen. A potential role in hemostasis and thrombosis. (PubMed id 7642629)1, 2, 9 Tran H....Argraves W.S. (J. Biol. Chem. 1995)
    4. The self-association and fibronectin-binding sites of fibulin-1 map to calcium-binding epidermal growth factor-like domains. (PubMed id 9278415)1, 2, 9 Tran H.... Argraves W.S. (J. Biol. Chem. 1997)
    5. Increased immunostaining of fibulin-1, an estrogen-regulated protein in the stroma of human ovarian epithelial tumors. (PubMed id 9811350)1, 2, 9 Roger P.... Rochefort H. (Am. J. Pathol. 1998)
    6. Interaction of oncogenic papillomavirus E6 proteins with fibulin-1. (PubMed id 12200142)1, 2, 9 Du M.... Chen J.J. (Biochem. Biophys. Res. Commun. 2002)
    7. Estradiol and fibulin-1 inhibit motility of human ovarian- and breast-cancer cells induced by fibronectin. (PubMed id 9466671)1, 2, 9 Hayashido Y....Rochefort H. (Int. J. Cancer 1998)
    8. The association of human fibulin-1 with elastic fibers: an immunohistological, ultrastructural, and RNA study. (PubMed id 7534784)1, 2, 9 Roark E.F....Argraves W.S. (J. Histochem. Cytochem. 1995)
    9. Human fibulin-1D: molecular cloning, expression and similarity with S1-5 protein, a new member of the fibulin gene family. (PubMed id 9106159)1, 2, 9 Tran H.... Argraves W.S. (Matrix Biol. 1997)
    10. Estrogens increase the expression of fibulin-1, an extracellular matrix protein secreted by human ovarian cancer cells. (PubMed id 8552629)1, 2, 9 Clinton G.M.... Rochefort H. (Proc. Natl. Acad. Sci. U.S.A. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2192 HGNC: 3600 AceView: FBLN1 Ensembl:ENSG00000077942 euGenes: HUgn2192
    ECgene: FBLN1 H-InvDB: FBLN1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for FBLN1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FBLN1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FBLN1 gene:
    Search GeneIP for patents involving FBLN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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