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    FBN1 fibrillin 1 [ Homo sapiens (human) ]

    Gene ID: 2200, updated on 19-Jul-2021

    Summary

    Official Symbol
    FBN1provided by HGNC
    Official Full Name
    fibrillin 1provided by HGNC
    Primary source
    HGNC:HGNC:3603
    See related
    Ensembl:ENSG00000166147 MIM:134797
    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]
    Expression
    Broad expression in placenta (RPKM 47.2), fat (RPKM 27.5) and 20 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See FBN1 in Genome Data Viewer
    Location:
    15q21.1
    Exon count:
    66
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (48408313..48645709, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (48700510..48937906, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984755 Neighboring gene DUT antisense RNA 1 Neighboring gene deoxyuridine triphosphatase Neighboring gene Sharpr-MPRA regulatory region 9539 Neighboring gene FBN1 divergent transcript Neighboring gene centrosomal protein 152 Neighboring gene oxidation resistance 1 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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
    A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.
    GeneReviews: Not available
    Acromicric dysplasia
    MedGen: C0265287 OMIM: 102370 GeneReviews: Not available
    Compare labs
    Ectopia lentis, isolated, autosomal dominant
    MedGen: C3541518 OMIM: 129600 GeneReviews: Not available
    Compare labs
    Familial thoracic aortic aneurysm and aortic dissection Compare labs
    Geleophysic dysplasia 2
    MedGen: C3280054 OMIM: 614185 GeneReviews: Geleophysic Dysplasia
    Compare labs
    Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.
    GeneReviews: Not available
    Marfan lipodystrophy syndrome
    MedGen: C4310796 OMIM: 616914 GeneReviews: Not available
    Compare labs
    Marfan syndrome
    MedGen: C0024796 OMIM: 154700 GeneReviews: Marfan Syndrome
    Compare labs
    MASS syndrome
    MedGen: C1858556 OMIM: 604308 GeneReviews: Not available
    Compare labs
    Stiff skin syndrome
    MedGen: C1861456 OMIM: 184900 GeneReviews: Not available
    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 2019-12-04)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2019-12-04)

    ClinGen Genome Curation PagePubMed

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables extracellular matrix constituent conferring elasticity IC
    Inferred by Curator
    more info
    PubMed 
    enables extracellular matrix structural constituent IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables extracellular matrix structural constituent IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables extracellular matrix structural constituent RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    enables heparin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables hormone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables integrin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in anatomical structure morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in camera-type eye development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cell adhesion mediated by integrin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to insulin-like growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to transforming growth factor beta stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic eye morphogenesis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in metanephros development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of osteoclast development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of osteoclast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in post-embryonic eye morphogenesis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in sequestering of BMP in extracellular matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sequestering of TGFbeta in extracellular matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    fibrillin-1
    Names
    asprosin
    epididymis secretory sperm binding protein
    fibrillin 15
    fibrillin-1 preproprotein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000138.5NP_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
      ENSP00000325527.5, ENST00000316623.10
      Conserved Domains (8) summary
      smart00179
      Location:18081840
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:19732008
      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 ...
      pfam07645
      Location:19301971
      EGF_CA; Calcium-binding EGF domain
      pfam12947
      Location:13671402
      EGF_3; EGF domain
      pfam00683
      Location:15491590
      TB; TB domain
      pfam12662
      Location:24652488
      cEGF; Complement Clr-like EGF-like
      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:24852516
      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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

      Range
      48408313..48645709 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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