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Aliases for FBN1 Gene

Aliases for FBN1 Gene

  • Fibrillin 1 2 3 5
  • Asprosin 2 3
  • FBN 3 4
  • Fibrillin 1 (Marfan Syndrome) 2
  • Fibrillin-1 Preproprotein 3
  • Marfan Syndrome 2
  • Fibrillin 15 3
  • Fibrillin-1 3
  • GPHYSD2 3
  • ACMICD 3
  • ECTOL1 3
  • MASS 3
  • MFLS 3
  • OCTD 3
  • SSKS 3
  • WMS2 3
  • MFS1 3
  • SGS 3
  • WMS 3

External Ids for FBN1 Gene

Previous HGNC Symbols for FBN1 Gene

  • FBN
  • MFS1
  • WMS

Previous GeneCards Identifiers for FBN1 Gene

  • GC15M044259
  • GC15M041748
  • GC15M046281
  • GC15M046418
  • GC15M046489
  • GC15M048700
  • GC15M025532

Summaries for FBN1 Gene

Entrez Gene Summary for FBN1 Gene

  • 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]

GeneCards Summary for FBN1 Gene

FBN1 (Fibrillin 1) is a Protein Coding gene. Diseases associated with FBN1 include Stiff Skin Syndrome and Marfan Lipodystrophy Syndrome. Among its related pathways are ERK Signaling and Integrin Pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding and extracellular matrix structural constituent. An important paralog of this gene is FBN2.

UniProtKB/Swiss-Prot for FBN1 Gene

  • Fibrillin-1: Structural component of the 10-12 nm diameter microfibrils of the extracellular matrix, which conveys both structural and regulatory properties to load-bearing connective tissues (PubMed:1860873, PubMed:15062093). Fibrillin-1-containing microfibrils provide long-term force bearing structural support. In tissues such as the lung, blood vessels and skin, microfibrils form the periphery of the elastic fiber, acting as a scaffold for the deposition of elastin. In addition, microfibrils can occur as elastin-independent networks in tissues such as the ciliary zonule, tendon, cornea and glomerulus where they provide tensile strength and have anchoring roles. Fibrillin-1 also plays a key role in tissue homeostasis through specific interactions with growth factors, such as the bone morphogenetic proteins (BMPs), growth and differentiation factors (GDFs) and latent transforming growth factor-beta-binding proteins (LTBPs), cell-surface integrins and other extracellular matrix protein and proteoglycan components (PubMed:27026396). Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively (By similarity). Negatively regulates osteoclastogenesis by binding and sequestering an osteoclast differentiation and activation factor TNFSF11. This leads to disruption of TNFSF11-induced Ca(2+) signaling and impairment of TNFSF11-mediated nuclear translocation and activation of transcription factor NFATC1 which regulates genes important for osteoclast differentiation and function (PubMed:24039232). Mediates cell adhesion via its binding to cell surface receptors integrins ITGAV:ITGB3 and ITGA5:ITGB1 (PubMed:12807887, PubMed:17158881). Binds heparin and this interaction has an important role in the assembly of microfibrils (PubMed:11461921).

  • Asprosin: Hormone that targets the liver to increase plasma glucose levels. Secreted by white adipose tissue and circulates in the plasma. Acts in response to fasting and promotes blood glucose elevation by binding to the surface of hepatocytes. Promotes hepatocyte glucose release by activating the protein kinase A activity in the liver, resulting in rapid glucose release into the circulation.

Gene Wiki entry for FBN1 Gene

Additional gene information for FBN1 Gene

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

Genomics for FBN1 Gene

GeneHancer (GH) Regulatory Elements for FBN1 Gene

Promoters and enhancers for FBN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J048642 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 659.5 +0.9 885 4.4 MZF1 SIN3A KLF5 RAD21 BRCA1 ZNF335 GLIS2 ZNF366 RCOR1 RUNX3 LOC105370809 FBN1 GC15P048611 GC15M048517
GH15J048553 Enhancer 1.2 Ensembl ENCODE dbSUPER 27.3 +90.5 90498 4.5 HDAC1 PKNOX1 ATF1 CHAMP1 TCF12 ZNF766 FOS ATF7 PHF21A CEBPB FBN1 LOC105370809 SLC12A1 GC15P048560 GC15P048538 GC15M048517
GH15J048563 Enhancer 1.1 Ensembl ENCODE dbSUPER 28 +79.9 79916 4.1 JUN RAD21 RFX5 POLR2A SCRT2 SMC3 FOS DEK CHD2 TCF7L2 FBN1 LOC105370809 GC15P048560 GC15P048611 GC15M048517
GH15J048579 Enhancer 1.3 Ensembl ENCODE dbSUPER 22.9 +63.4 63449 4.9 PKNOX1 ATF1 FEZF1 ZNF2 TCF12 ZNF766 ZNF213 GATA2 ATF7 NCOA1 FBN1 LOC105370809 GC15P048560 GC15P048611 GC15M048517
GH15J048693 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 22.1 -49.3 -49267 3.8 CHAMP1 TCF12 POLR3A ZNF143 ZFP91 FOS ATF7 CEBPB REST ZEB2 FBN1 SLC12A1 DUT GC15M048674 LOC645405 GC15M048517 CEP152
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FBN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FBN1 gene promoter:
  • p300
  • MRF-2
  • AP-2gamma
  • AP-2beta
  • AP-2alphaA
  • AP-2alpha
  • STAT1alpha
  • C/EBPalpha
  • STAT1
  • STAT1beta

Genomic Locations for FBN1 Gene

Genomic Locations for FBN1 Gene
chr15:48,408,306-48,645,849
(GRCh38/hg38)
Size:
237,544 bases
Orientation:
Minus strand
chr15:48,700,503-48,938,046
(GRCh37/hg19)
Size:
237,544 bases
Orientation:
Minus strand

Genomic View for FBN1 Gene

Genes around FBN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 (PubMed:15165854). Interacts with integrin alpha-V/beta-3 (PubMed:15062093). Interacts with ADAMTS10; this interaction promotes microfibril assembly (PubMed:21402694). Interacts with THSD4; this interaction promotes fibril formation (By similarity). Interacts (via N-terminal domain) with FBLN2, FBLN4 and FBLN5 (PubMed:15790312, PubMed:17255108). Interacts with ELN (PubMed:15790312). Forms a ternary complex with ELN and FBLN2 or FBLN5 and a significant interaction with ELN seen only in the presence of FBLN2 or FBLN5 (PubMed:17255108). Interacts (via N-terminal domain) with LTBP2 (via C-terminal domain) in a Ca(+2)-dependent manner (PubMed:17293099). Interacts (via N-terminal domain) with LTBP1 (via C-terminal domain) (PubMed:17293099). Interacts with integrins ITGA5:ITGB1, ITGAV:ITGB3 and ITGAV:ITGB6 (PubMed:17158881, PubMed:12807887). Interacts (via N-terminal domain) with BMP2, BMP4, BMP7, BMP10 and GDF5 (PubMed:18339631). Interacts (via N-terminal domain) with MFAP2 and MFAP5 (PubMed:15131124). Interacts with ADAMTSL5 (PubMed:23010571). Interacts with MFAP4 (PubMed:26601954). Interacts (via N-terminal domain) with TNFSF11 in a Ca(+2)-dependent manner (PubMed:24039232).
    Miscellaneous:
    • Asprosin: Was named after the Greek word for white, because of the reduction in subcutaneous white adipose tissue that is displayed by asprosin-deficient patients.
    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

Post-translational modifications for FBN1 Gene

  • Fibrillin-1: Cleavage of N- and C-terminus by furin is required for incorporation into the extracellular matrix and assembly into microfibrils (PubMed:27026396). The C-terminus, which corresponds to the Asprosin chain, was initially thought to constitute a propeptide (PubMed:24982166). Fibrillin-1 and Asprosin chains are still linked together during the secretion from cells, but are subsequently separated by furin, an essential step for incorporation of Fibrillin-1 into the nascent microfibrils (PubMed:24982166).
  • Fibrillin-1: Forms intermolecular disulfide bonds either with other fibrillin-1 molecules or with other components of the microfibrils.
  • Glycosylation at Asn2767, isoforms=2750, Asn2734, Asn2178, isoforms=2077, isoforms=1902, Asn1713, isoforms=1703, Asn1669, isoforms=1581, Asn1484, isoforms=1369, isoforms=1149, Asn1067, and isoforms=448
  • Modification sites at PhosphoSitePlus

Other Protein References for FBN1 Gene

Antibody Products

No data available for DME Specific Peptides for FBN1 Gene

Domains & Families for FBN1 Gene

Gene Families for FBN1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for FBN1 Gene

Graphical View of Domain Structure for InterPro Entry

P35555

UniProtKB/Swiss-Prot:

FBN1_HUMAN :
  • Belongs to the fibrillin family.
Family:
  • Belongs to the fibrillin family.
genes like me logo Genes that share domains with FBN1: view

Function for FBN1 Gene

Molecular function for FBN1 Gene

UniProtKB/Swiss-Prot Function:
Fibrillin-1: Structural component of the 10-12 nm diameter microfibrils of the extracellular matrix, which conveys both structural and regulatory properties to load-bearing connective tissues (PubMed:1860873, PubMed:15062093). Fibrillin-1-containing microfibrils provide long-term force bearing structural support. In tissues such as the lung, blood vessels and skin, microfibrils form the periphery of the elastic fiber, acting as a scaffold for the deposition of elastin. In addition, microfibrils can occur as elastin-independent networks in tissues such as the ciliary zonule, tendon, cornea and glomerulus where they provide tensile strength and have anchoring roles. Fibrillin-1 also plays a key role in tissue homeostasis through specific interactions with growth factors, such as the bone morphogenetic proteins (BMPs), growth and differentiation factors (GDFs) and latent transforming growth factor-beta-binding proteins (LTBPs), cell-surface integrins and other extracellular matrix protein and proteoglycan components (PubMed:27026396). Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively (By similarity). Negatively regulates osteoclastogenesis by binding and sequestering an osteoclast differentiation and activation factor TNFSF11. This leads to disruption of TNFSF11-induced Ca(2+) signaling and impairment of TNFSF11-mediated nuclear translocation and activation of transcription factor NFATC1 which regulates genes important for osteoclast differentiation and function (PubMed:24039232). Mediates cell adhesion via its binding to cell surface receptors integrins ITGAV:ITGB3 and ITGA5:ITGB1 (PubMed:12807887, PubMed:17158881). Binds heparin and this interaction has an important role in the assembly of microfibrils (PubMed:11461921).
UniProtKB/Swiss-Prot Function:
Asprosin: Hormone that targets the liver to increase plasma glucose levels. Secreted by white adipose tissue and circulates in the plasma. Acts in response to fasting and promotes blood glucose elevation by binding to the surface of hepatocytes. Promotes hepatocyte glucose release by activating the protein kinase A activity in the liver, resulting in rapid glucose release into the circulation.
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

Phenotypes From GWAS Catalog for FBN1 Gene

Gene Ontology (GO) - Molecular Function for FBN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005178 integrin binding IPI 12807887
GO:0005179 hormone activity IEA --
GO:0005201 extracellular matrix structural constituent IDA,IEA 3536967
GO:0005509 calcium ion binding IEA,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

Human Phenotype Ontology for FBN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FBN1 Gene

MGI Knock Outs for FBN1:

Clone Products

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

Localization for FBN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FBN1 Gene

Secreted. Note=Fibrillin-1 and Asprosin chains are still linked together during the secretion from cells, but are subsequently separated by furin (PubMed:24982166). {ECO:0000269 PubMed:24982166}.
Asprosin: Secreted. Note=Secreted into the plasma. {ECO:0000269 PubMed:27087445}.
Fibrillin-1: Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FBN1 gene
Compartment Confidence
extracellular 5
plasma membrane 4
endoplasmic reticulum 4
nucleus 3
cytosol 2
golgi apparatus 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FBN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001527 microfibril IDA 1860873
GO:0005576 extracellular region TAS --
GO:0005604 basement membrane IDA 3536967
GO:0005615 extracellular space IDA,IEA 3536967
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with FBN1: view

Pathways & Interactions 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 IEA --
GO:0007507 heart development IMP 15781745
GO:0009653 anatomical structure morphogenesis IBA --
genes like me logo Genes that share ontologies with FBN1: view

No data available for SIGNOR curated interactions for FBN1 Gene

Drugs & Compounds for FBN1 Gene

(17) Drugs for FBN1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0

(18) Additional Compounds for FBN1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FBN1: view

Transcripts for FBN1 Gene

mRNA/cDNA for FBN1 Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(327) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FBN1 Gene

Fibrillin 1:
Representative Sequences:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for FBN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FBN1 Gene

This gene is overexpressed in Gallbladder (21.6), Amniocyte (14.9), and Rectum (12.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FBN1 Gene



Protein tissue co-expression partners for FBN1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FBN1 Gene:

FBN1

SOURCE GeneReport for Unigene cluster for FBN1 Gene:

Hs.591133

Evidence on tissue expression from TISSUES for FBN1 Gene

  • Liver(4.7)
  • Heart(3.7)
  • Skin(3)
  • Bone(2.8)
  • Muscle(2.8)
  • Gall bladder(2.4)
  • Lung(2.4)
  • Eye(2.2)
  • Kidney(2.2)
  • Stomach(2.1)
  • Intestine(2)
  • Pancreas(2)
  • Nervous system(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FBN1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • aorta
  • bronchus
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • abdominal wall
  • intestine
  • liver
  • stomach
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns 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 34 33
  • 99.7 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FBN1 34 33
  • 92.81 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FBN1 34 33
  • 92.04 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FBN1 34
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fbn1 16 34 33
  • 88.88 (n)
rat
(Rattus norvegicus)
Mammalia Fbn1 33
  • 88.4 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FBN1 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves FBN1 34 33
  • 79.7 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FBN1 34
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fbn1 33
  • 74.61 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15872 33
zebrafish
(Danio rerio)
Actinopterygii CABZ01075689.1 34
  • 74 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7526 35
  • 31 (a)
worm
(Caenorhabditis elegans)
Secernentea B0393.5 35
  • 40 (a)
ZK783.1 35
  • 29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 45 (a)
OneToMany
Species where no ortholog for FBN1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FBN1: view image

Paralogs for FBN1 Gene

Paralogs for FBN1 Gene

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

  • FBN1_HUMAN
  • F6U495_HUMAN
  • H0YN80_HUMAN
  • H0YND0_HUMAN
  • L8E6V0_HUMAN
  • L8E775_HUMAN
  • Q75N88_HUMAN
  • Q75N89_HUMAN

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 Variation AA Info Type
rs1005074 benign, conflicting-interpretations-of-pathogenicity, likely-benign, not specified, Thoracic aortic aneurysm and aortic dissection, Geleophysic dysplasia, Ectopia lentis, Weill-Marchesani syndrome, Stiff skin syndrome, Acromicric dysplasia, MASS syndrome, Marfan syndrome 48,427,673(-) G/A coding_sequence_variant, synonymous_variant
rs1010242258 uncertain-significance, Weill-Marchesani syndrome, Thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Stiff skin syndrome, Ectopia lentis, Geleophysic dysplasia, Acromicric dysplasia, MASS syndrome 48,537,758(-) C/G coding_sequence_variant, missense_variant
rs1014366752 uncertain-significance, Marfan syndrome, MASS syndrome, Weill-Marchesani syndrome, Ectopia lentis, Thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome, Geleophysic dysplasia, Acromicric dysplasia 48,415,576(-) G/A coding_sequence_variant, synonymous_variant
rs1018833992 uncertain-significance, Acromicric dysplasia, Stiff skin syndrome, Thoracic aortic aneurysm and aortic dissection, Ectopia lentis, Weill-Marchesani syndrome, Geleophysic dysplasia, Marfan syndrome, MASS syndrome 48,408,434(-) C/T 3_prime_UTR_variant
rs1021415072 likely-benign, Marfan syndrome, Thoracic aortic aneurysm and aortic dissection 48,437,874(-) C/T coding_sequence_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
dgv1208n106 CNV deletion 24896259
esv2749666 CNV deletion 23290073
esv2749667 CNV deletion 23290073
esv2749668 CNV deletion 23290073
esv2749669 CNV deletion 23290073
esv2749670 CNV deletion 23290073
esv3304962 CNV mobile element insertion 20981092
esv3327357 CNV insertion 20981092
esv3363865 CNV insertion 20981092
esv3552418 CNV deletion 23714750
esv3552419 CNV deletion 23714750
esv3636415 CNV loss 21293372
nsv1039824 CNV gain 25217958
nsv1047597 CNV gain 25217958
nsv477369 CNV novel sequence insertion 20440878
nsv817692 CNV loss 17921354
nsv827329 CNV loss 20364138
nsv833000 CNV gain 17160897
nsv94450 CNV deletion 16902084

Variation tolerance for FBN1 Gene

Residual Variation Intolerance Score: 0.331% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.89; 74.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FBN1 Gene

Human Gene Mutation Database (HGMD)
FBN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBN1

SNP Genotyping and Copy Number Assay Products

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

Disorders for FBN1 Gene

MalaCards: The human disease database

(84) MalaCards diseases for FBN1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

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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:12161601, ECO:0000269 PubMed:12203992, ECO:0000269 PubMed:12402346, ECO:0000269 PubMed:1301946, ECO:0000269 PubMed:14695540, ECO:0000269 PubMed:15161917, ECO:0000269 PubMed:15221638, ECO:0000269 PubMed:1569206, ECO:0000269 PubMed:16220557, ECO:0000269 PubMed:16222657, ECO:0000269 PubMed:17657824, ECO:0000269 PubMed:18435798, ECO:0000269 PubMed:1852208, ECO:0000269 PubMed:19533785, ECO:0000269 PubMed:19941982, ECO:0000269 PubMed:20803651, ECO:0000269 PubMed:21542060, ECO:0000269 PubMed:22772377, ECO:0000269 PubMed:7611299, ECO:0000269 PubMed:7738200, ECO:0000269 PubMed:7762551, ECO:0000269 PubMed:7870075, ECO:0000269 PubMed:7951214, 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:9016526, ECO:0000269 PubMed:9254848, ECO:0000269 PubMed:9338581, ECO:0000269 PubMed:9401003, ECO:0000269 PubMed:9452085, ECO:0000269 PubMed:9837823, ECO:0000269 Ref.68}. Note=The disease is caused by mutations affecting the gene represented in this entry. The majority of the more than thousand 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:17657824, 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.
  • Marfan lipodystrophy syndrome (MFLS) [MIM:616914]: A syndrome characterized by congenital lipodystrophy, a progeroid facial appearance due to lack of subcutaneous fat, and variable signs of Marfan syndrome. Clinical features include premature birth with an accelerated linear growth disproportionate to the weight gain, ectopia lentis, aortic dilatation, dural ectasia, and arachnodactyly. Mental and motor development are within normal limits. {ECO:0000269 PubMed:20979188, ECO:0000269 PubMed:21594992, ECO:0000269 PubMed:21594993, ECO:0000269 PubMed:24039054, ECO:0000269 PubMed:24613577, ECO:0000269 PubMed:24665001, ECO:0000269 PubMed:26860060, ECO:0000269 PubMed:27087445}. Note=The disease is caused by mutations affecting the gene represented in this entry. Asprosin: Mutations specifically affect Asprosin, a hormone peptide present at the C-terminus of Fibrillin-1 chain, which is cleaved from Fibrillin-1 following secretion (PubMed:27087445). {ECO:0000269 PubMed:27087445}.

Additional Disease Information for FBN1

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Publications for FBN1 Gene

  1. Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. (PMID: 19293843) Stheneur C … Boileau C (European journal of human genetics : EJHG 2009) 3 4 22 44 58
  2. 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 (Archives of internal medicine 2001) 3 4 22 44 58
  3. Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes. (PMID: 19533785) Chung BH … Lau YL (American journal of medical genetics. Part A 2009) 3 4 44 58
  4. FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations. (PMID: 18435798) Attanasio M … Pepe G (Clinical genetics 2008) 3 4 44 58
  5. Targeting of bone morphogenetic protein growth factor complexes to fibrillin. (PMID: 18339631) Sengle G … Sakai LY (The Journal of biological chemistry 2008) 3 4 22 58

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