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    FBN1 fibrillin 1 [ Homo sapiens (human) ]

    Gene ID: 2200, updated on 16-Jul-2016
    Official Symbol
    FBN1provided by HGNC
    Official Full Name
    fibrillin 1provided by HGNC
    Primary source
    HGNC:HGNC:3603
    See related
    Ensembl:ENSG00000166147 HPRD:00618; MIM:134797; Vega:OTTHUMG00000172218
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FBN; SGS; WMS; MASS; MFLS; MFS1; OCTD; SSKS; WMS2; ACMICD; ECTOL1; GPHYSD2
    Summary
    This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. These microfibrils provide force-bearing structural support in elastic and nonelastic connective tissue throughout the body. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis. Mutations in this gene are associated with Marfan syndrome and the related MASS phenotype, as well as ectopia lentis syndrome, Weill-Marchesani syndrome, Shprintzen-Goldberg syndrome and neonatal progeroid syndrome. [provided by RefSeq, Apr 2016]
    Orthologs
    Location:
    15q21.1
    Exon count:
    66
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 15 NC_000015.10 (48408306..48645788, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (48700503..48937985, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984755 Neighboring gene uncharacterized LOC107984757 Neighboring gene deoxyuridine triphosphatase Neighboring gene uncharacterized LOC105370809 Neighboring gene centrosomal protein 152 Neighboring gene oxidation resistance 1 pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in FBN1 that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Associated conditions

    Description Tests
    Acromicric dysplasia
    MedGen: C0265287 OMIM: 102370 GeneReviews: Not available
    Compare labs
    Ectopia lentis, isolated, autosomal dominant
    MedGen: C1851286 OMIM: 129600 GeneReviews: Not available
    Compare labs
    Geleophysic dysplasia 2
    MedGen: C3280054 OMIM: 614185 GeneReviews: Geleophysic Dysplasia
    Compare labs
    Marfan syndrome
    MedGen: C0024796 OMIM: 154700 GeneReviews: Marfan Syndrome
    Compare labs
    MASS syndrome
    MedGen: C1858556 OMIM: 604308 GeneReviews: Not available
    Compare labs
    not provided
    MedGen: CN236394 OMIM: 616914 GeneReviews: Not available
    not available
    Stiff skin syndrome
    MedGen: C1861456 OMIM: 184900 GeneReviews: Not available
    Compare labs
    Thoracic aortic aneurysm and aortic dissection Compare labs
    Weill-Marchesani syndrome 2
    MedGen: C1869115 OMIM: 608328 GeneReviews: Weill-Marchesani Syndrome
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2014-06-04)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2014-06-04)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.
    NHGRI GWA Catalog
    Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.
    NHGRI GWA Catalog
    • Elastic fibre formation, organism-specific biosystem (from REACTOME)
      Elastic fibre formation, organism-specific biosystemElastic fibres (EF) are a major structural constituent of dynamic connective tissues such as large arteries and lung parenchyma, where they provide essential properties of elastic recoil and resilien...
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
    • Integrin cell surface interactions, organism-specific biosystem (from REACTOME)
      Integrin cell surface interactions, organism-specific biosystemThe extracellular matrix (ECM) is a network of macro-molecules that underlies all epithelia and endothelia and that surrounds all connective tissue cells. This matrix provides the mechanical strength...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular matrix constituent conferring elasticity IC
    Inferred by Curator
    more info
    PubMed 
    extracellular matrix structural constituent IDA
    Inferred from Direct Assay
    more info
    PubMed 
    hormone activity IEA
    Inferred from Electronic Annotation
    more info
     
    integrin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    camera-type eye development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    cellular response to insulin-like growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to transforming growth factor beta stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic eye morphogenesis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    extracellular matrix disassembly TAS
    Traceable Author Statement
    more info
     
    extracellular matrix organization TAS
    Traceable Author Statement
    more info
     
    heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    metanephros development IEA
    Inferred from Electronic Annotation
    more info
     
    post-embryonic eye morphogenesis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    regulation of cellular response to growth factor stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    sequestering of BMP in extracellular matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sequestering of TGFbeta in extracellular matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    basement membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microfibril IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proteinaceous extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    fibrillin-1
    Names
    fibrillin 15

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008805.2 RefSeqGene

      Range
      5001..242483
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_778

    mRNA and Protein(s)

    1. NM_000138.4NP_000129.3  fibrillin-1 preproprotein

      See identical proteins and their annotated locations for NP_000129.3

      Status: REVIEWED

      Source sequence(s)
      AC084757, AC084758, BC146854
      Consensus CDS
      CCDS32232.1
      UniProtKB/Swiss-Prot
      P35555
      Related
      ENSP00000325527, OTTHUMP00000247869, ENST00000316623, OTTHUMT00000417355
      Conserved Domains (7) summary
      smart00179
      Location:16061638
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:18081840
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00683
      Location:15471588
      TB; TB domain
      pfam06247
      Location:12481399
      Plasmod_Pvs28; Plasmodium ookinete surface protein Pvs28
      pfam07645
      Location:19301971
      EGF_CA; Calcium-binding EGF domain
      cl00057
      Location:11941235
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
      cl21504
      Location:20132053
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p7 Primary Assembly

      Range
      48408306..48645788 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018926.2 Alternate CHM1_1.1

      Range
      48818485..49055993 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)