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Aliases for FBN1 Gene

Aliases for FBN1 Gene

  • Fibrillin 1 2 3
  • GPHYSD2 3 6
  • ACMICD 3 6
  • ECTOL1 3 6
  • MFS1 3 6
  • WMS2 3 6
  • SSKS 3 6
  • FBN 3 4
  • Fibrillin 1 (Marfan Syndrome) 2
  • Marfan Syndrome 2
  • Fibrillin 15 3
  • Fibrillin-1 3
  • OCTD 3
  • MASS 3
  • SGS 3
  • WMS 3

External Ids for FBN1 Gene

Previous Symbols for FBN1 Gene

  • FBN
  • MFS1
  • WMS

Summaries for FBN1 Gene

Entrez Gene Summary for FBN1 Gene

  • 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]

GeneCards Summary for FBN1 Gene

FBN1 (Fibrillin 1) is a Protein Coding gene. Diseases associated with FBN1 include marfan syndrome and mass syndrome. Among its related pathways are ERK Signaling and ERK Signaling. GO annotations related to this gene include calcium ion binding and extracellular matrix structural constituent. An important paralog of this gene is NPNT.

UniProtKB/Swiss-Prot for FBN1 Gene

  • Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-1-containing microfibrils provide long-term force bearing structural support. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively.

Gene Wiki entry for FBN1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBN1 Gene

Genomics for FBN1 Gene

Genomic Location for FBN1 Gene

Start:
48,408,306 bp from pter
End:
48,645,849 bp from pter
Size:
237,544 bases
Orientation:
Minus strand

Genomic View for FBN1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FBN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBN1 Gene

Proteins for FBN1 Gene

  • Protein details for FBN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35555-FBN1_HUMAN
    Recommended name:
    Fibrillin-1
    Protein Accession:
    P35555
    Secondary Accessions:
    • B2RUU0
    • D2JYH6
    • Q15972
    • Q75N87

    Protein attributes for FBN1 Gene

    Size:
    2871 amino acids
    Molecular mass:
    312237 Da
    Quaternary structure:
    • Interacts with COL16A1. Interacts with integrin alpha-V/beta-3. Interacts with ADAMTSL4. Interacts with ADAMTS10; this interaction promotes microfibrils assembly. Interacts with THSD4; this interaction promotes fibril formation (By similarity).
    SequenceCaution:
    • Sequence=CAA45118.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FBN1 Gene

neXtProt entry for FBN1 Gene

Proteomics data for FBN1 Gene at MOPED

Post-translational modifications for FBN1 Gene

  • Forms intermolecular disulfide bonds either with other fibrillin-1 molecules or with other components of the microfibrils
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn448, Asn1067, Asn1149, Asn1369, Asn1484, Asn1581, Asn1669, Asn1703, Asn1713, Asn1902, Asn2077, Asn2178, Asn2734, Asn2750, and Asn2767

Other Protein References for FBN1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for FBN1 Gene

Domains for FBN1 Gene

Suggested Antigen Peptide Sequences for FBN1 Gene

Graphical View of Domain Structure for InterPro Entry

P35555

UniProtKB/Swiss-Prot:

FBN1_HUMAN
Domain:
  • Contains 47 EGF-like domains.:
    • P35555
  • Contains 9 TB (TGF-beta binding) domains.:
    • P35555
Family:
  • Belongs to the fibrillin family.:
    • P35555
genes like me logo Genes that share domains with FBN1: view

No data available for Gene Families for FBN1 Gene

Function for FBN1 Gene

Molecular function for FBN1 Gene

GENATLAS Biochemistry: fibrillin 1,major constituent of extracellular matrix,colocalizing with FBNL2 in skin,perichondrium,10nm microfibrils,synthetized as profibrillin-1,furin mediated,involved in the maintenance of elastic fibers and anchoring epithelial cells to the interstitial matrix
UniProtKB/Swiss-Prot Function: Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-1-containing microfibrils provide long-term force bearing structural support. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively.

Gene Ontology (GO) - Molecular Function for FBN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent IDA 3536967
GO:0005509 calcium ion binding IDA 7691719
GO:0005515 protein binding IPI 12429738
genes like me logo Genes that share ontologies with FBN1: view
genes like me logo Genes that share phenotypes with FBN1: view

Animal Models for FBN1 Gene

MGI Knock Outs for FBN1:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for FBN1 Gene

Localization for FBN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FBN1 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FBN1 Gene COMPARTMENTS Subcellular localization image for FBN1 gene
Compartment Confidence
extracellular 5
nucleus 3
cytosol 2
plasma membrane 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for FBN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001527 microfibril IDA 10424889
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IDA 3536967
GO:0005604 basement membrane IDA 3536967
GO:0005615 extracellular space IDA 20551380
genes like me logo Genes that share ontologies with FBN1: view

Pathways for FBN1 Gene

genes like me logo Genes that share pathways with FBN1: view

Gene Ontology (GO) - Biological Process for FBN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IMP 8188302
GO:0001656 metanephros development IEA --
GO:0001822 kidney development --
GO:0007507 heart development IMP 15781745
GO:0009653 anatomical structure morphogenesis IBA --
genes like me logo Genes that share ontologies with FBN1: view

Compounds for FBN1 Gene

(1) HMDB Compounds for FBN1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(35) Novoseek inferred chemical compound relationships for FBN1 Gene

Compound -log(P) Hits PubMed IDs
taad 79.3 2
desmosine 74.4 2
cysteine 50.8 38
orcein 48.4 2
calcium 30.7 73
genes like me logo Genes that share compounds with FBN1: view

Transcripts for FBN1 Gene

Unigene Clusters for FBN1 Gene

Fibrillin 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FBN1 Gene

No ASD Table

Relevant External Links for FBN1 Gene

GeneLoc Exon Structure for
FBN1
ECgene alternative splicing isoforms for
FBN1

Expression for FBN1 Gene

mRNA expression in normal human tissues for FBN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FBN1 Gene

SOURCE GeneReport for Unigene cluster for FBN1 Gene Hs.591133

genes like me logo Genes that share expressions with FBN1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for FBN1 Gene

Orthologs for FBN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FBN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FBN1 35
  • 99.7 (n)
  • 99.93 (a)
FBN1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FBN1 35
  • 92.81 (n)
  • 97.84 (a)
FBN1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FBN1 35
  • 92.04 (n)
  • 97.39 (a)
FBN1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fbn1 35
  • 88.88 (n)
  • 96.31 (a)
Fbn1 16
Fbn1 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FBN1 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FBN1 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fbn1 35
  • 88.4 (n)
  • 95.78 (a)
chicken
(Gallus gallus)
Aves FBN1 35
  • 79.7 (n)
  • 86.91 (a)
FBN1 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FBN1 36
  • 84 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15872 35
tropical clawed frog
(Silurana tropicalis)
Amphibia fbn1 35
  • 74.61 (n)
  • 80.63 (a)
zebrafish
(Danio rerio)
Actinopterygii CABZ01075689.1 36
  • 74 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7526 37
  • 31 (a)
worm
(Caenorhabditis elegans)
Secernentea ZK783.1 37
  • 29 (a)
B0393.5 37
  • 40 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
OneToMany
Species with no ortholog for FBN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FBN1 Gene

ENSEMBL:
Gene Tree for FBN1 (if available)
TreeFam:
Gene Tree for FBN1 (if available)

Paralogs for FBN1 Gene

Paralogs for FBN1 Gene

Selected SIMAP similar genes for FBN1 Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for FBN1 Gene

genes like me logo Genes that share paralogs with FBN1: view

Variants for FBN1 Gene

Sequence variations from dbSNP and Humsavar for FBN1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs13598 -- 48,410,260(-) ATTTC(G/T)GTGAC utr-variant-3-prime
rs25388 Benign 48,610,768(-) ACTTG(C/T)CCATC reference, synonymous-codon
rs25389 -- 48,537,747(-) CTCAG(C/T)GGGAT reference, synonymous-codon
rs25390 -- 48,537,691(-) GGGCC(-/A)CCCCT frameshift-variant, reference
rs25397 Likely benign, - 48,644,691(-) CGGAC(A/G)CCAAT missense, reference

Structural Variations from Database of Genomic Variants (DGV) for FBN1 Gene

Variant ID Type Subtype PubMed ID
nsv817692 CNV Loss 17921354
esv2749666 CNV Deletion 23290073
esv2749667 CNV Deletion 23290073
esv269240 CNV Insertion 20981092
nsv94450 CNV Loss 16902084
esv2749668 CNV Deletion 23290073
esv2749669 CNV Deletion 23290073
esv2749670 CNV Deletion 23290073
nsv833000 CNV Gain 17160897
nsv827329 CNV Loss 20364138

Relevant External Links for FBN1 Gene

HapMap Linkage Disequilibrium report
FBN1
Human Gene Mutation Database (HGMD)
FBN1
Locus Specific Mutation Databases (LSDB)
FBN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBN1 Gene

Disorders for FBN1 Gene

(7) OMIM Diseases for FBN1 Gene (134797)

UniProtKB/Swiss-Prot

FBN1_HUMAN
  • Marfan syndrome (MFS) [MIM:154700]: A hereditary disorder of connective tissue that affects the skeletal, ocular, and cardiovascular systems. A wide variety of skeletal abnormalities occurs with Marfan syndrome, including scoliosis, chest wall deformity, tall stature, abnormal joint mobility. Ectopia lentis occurs in most of the patients and is almost always bilateral. The leading cause of premature death is progressive dilation of the aortic root and ascending aorta, causing aortic incompetence and dissection. Neonatal Marfan syndrome is the most severe form resulting in death from cardiorespiratory failure in the first few years of life. {ECO:0000269 PubMed:10425041, ECO:0000269 PubMed:10441597, ECO:0000269 PubMed:10694921, ECO:0000269 PubMed:11700157, ECO:0000269 PubMed:11826022, ECO:0000269 PubMed:12203992, ECO:0000269 PubMed:1301946, ECO:0000269 PubMed:14695540, ECO:0000269 PubMed:15221638, ECO:0000269 PubMed:1569206, ECO:0000269 PubMed:16220557, ECO:0000269 PubMed:16222657, ECO:0000269 PubMed:1852208, ECO:0000269 PubMed:20803651, ECO:0000269 PubMed:21542060, ECO:0000269 PubMed:7611299, ECO:0000269 PubMed:7738200, ECO:0000269 PubMed:7870075, ECO:0000269 PubMed:7977366, ECO:0000269 PubMed:8004112, ECO:0000269 PubMed:8040326, ECO:0000269 PubMed:8071963, ECO:0000269 PubMed:8136837, ECO:0000269 PubMed:8281141, ECO:0000269 PubMed:8406497, ECO:0000269 PubMed:8504310, ECO:0000269 PubMed:8863159, ECO:0000269 PubMed:8882780, ECO:0000269 PubMed:9254848, ECO:0000269 PubMed:9338581, ECO:0000269 PubMed:9452085, ECO:0000269 PubMed:9837823, ECO:0000269 Ref.43}. Note=The disease is caused by mutations affecting the gene represented in this entry. The majority of the more than 600 mutations in FBN1 currently known are point mutations, the rest are frameshifts and splice site mutations. Marfan syndrome has been suggested in at least 2 historical figures, Abraham Lincoln and Paganini.
  • Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]: An ocular abnormality characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation. {ECO:0000269 PubMed:11700157, ECO:0000269 PubMed:11826022, ECO:0000269 PubMed:12203992, ECO:0000269 PubMed:8188302}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Weill-Marchesani syndrome 2 (WMS2) [MIM:608328]: A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma. {ECO:0000269 PubMed:12525539}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Overlap connective tissue disease (OCTD) [MIM:604308]: Heritable disorder of connective tissue characterized by involvement of the mitral valve, aorta, skeleton, and skin. MASS syndrome is closely resembling both the Marfan syndrome and the Barlow syndrome. However, no dislocation of the lenses or aneurysmal changes occur in the aorta, and the mitral valve prolapse is by no means invariable. {ECO:0000269 PubMed:2739055}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Stiff skin syndrome (SSKS) [MIM:184900]: A syndrome characterized by hard, thick skin, usually over the entire body, which limits joint mobility and causes flexion contractures. Other occasional findings include lipodystrophy and muscle weakness. {ECO:0000269 PubMed:20375004}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]: An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a happy face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues. {ECO:0000269 PubMed:21683322}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Acromicric dysplasia (ACMICD) [MIM:102370]: An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have distinct facial features, including round face, well-defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Other characteristic features include hoarse voice and pseudomuscular build, and there are distinct skeletal features as well, including an internal notch of the femoral head, internal notch of the second metacarpal, and external notch of the fifth metacarpal. {ECO:0000269 PubMed:21683322}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(82) Novoseek inferred disease relationships for FBN1 Gene

Disease -log(P) Hits PubMed IDs
marfan syndrome 97.8 225
ectopia lentis 94.5 30
arachnodactyly 93.2 15
ectopia lentis, isolated 90.3 7
heritable connective tissue disorder 87.8 7

Relevant External Links for FBN1

GeneTests
FBN1
GeneReviews
FBN1
Genetic Association Database (GAD)
FBN1
Human Genome Epidemiology (HuGE) Navigator
FBN1
genes like me logo Genes that share disorders with FBN1: view

Publications for FBN1 Gene

  1. Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. (PMID: 11700157) Loeys B. … De Paepe A. (Arch. Intern. Med. 2001) 3 4 23 48
  2. The pathogenicity of the Pro1148Ala substitution in the FBN1 gene: causing or predisposing to Marfan syndrome and aortic aneurysm, or clinically innocent? (PMID: 9150726) Schrijver I. … Francke U. (Hum. Genet. 1997) 3 4 23
  3. Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. (PMID: 11826022) Koerkkoe J. … Ala-Kokko L. (J. Med. Genet. 2002) 3 4 23
  4. Association of fibrillin 1 single-nucleotide polymorphism haplotypes with systemic sclerosis in Choctaw and Japanese populations. (PMID: 11315929) Tan F.K. … Arnett F.C. (Arthritis Rheum. 2001) 3 23 48
  5. Fibrillin-1 genotype is associated with aortic stiffness and disease severity in patients with coronary artery disease. (PMID: 11854120) Medley T.L. … Kingwell B.A. (Circulation 2002) 3 23 48

Products for FBN1 Gene

Sources for FBN1 Gene

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