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FBN1 fibrillin 1 [ Homo sapiens (human) ]

Gene ID: 2200, updated on 10-Apr-2015
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; MFS1; OCTD; SSKS; WMS2; ACMICD; ECTOL1; GPHYSD2
Summary
This gene encodes a member of the fibrillin family. The encoded protein is a large, extracellular matrix glycoprotein that serve as a structural component of 10-12 nm calcium-binding microfibrils. These microfibrils provide force bearing structural support in elastic and nonelastic connective tissue throughout the body. Mutations in this gene are associated with Marfan syndrome, isolated ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome, and Shprintzen-Goldberg craniosynostosis syndrome. [provided by RefSeq, Jul 2008]
Orthologs
See FBN1 in MapViewer
Location:
15q21.1
Exon count:
66
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 LOC105370806 Neighboring gene solute carrier family 12 (sodium/potassium/chloride transporter), member 1 Neighboring gene deoxyuridine triphosphatase Neighboring gene uncharacterized LOC105370808 Neighboring gene uncharacterized LOC105370809 Neighboring gene centrosomal protein 152kDa 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: CN074238 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's 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
Thoracic aortic aneurysms and aortic dissections 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 structural constituent IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
anatomical structure morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 
cellular response to transforming growth factor beta stimulus IEA
Inferred from Electronic Annotation
more info
 
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
 
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-1
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 precursor

    See proteins identical to 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 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p2 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 Alternate CHM1_1.1

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