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See searches and references containing FIBRILLIN 1!FIBRILLIN 1
Protein found in humans
Fibrillin-1 is a protein that in humans is encoded by the FBN1 gene, located on chromosome 15. It is a large, extracellular matrix glycoprotein that serves
Fibrillin-1
Protein family
Fibrillin is a glycoprotein, which is essential for the formation of elastic fibers found in connective tissue. Fibrillin is secreted into the extracellular
Fibrillin
Genetic disorder involving connective tissue
variable. MFS is caused by a mutation in FBN1, one of the genes that make fibrillin, which results in abnormal connective tissue. It is an autosomal dominant
Marfan_syndrome
hormone encoded by the FBN1 gene and derived from the cleavage of the fibrillin-1 protein, a structural component of the extracellular matrix. It is primarily
Asprosin
Medical condition
unlike Marfan's, CCA is caused by mutations to the fibrillin-2 (FBN2) gene rather than the fibrillin-1 (FBN1) gene. Signs and symptoms of CCA often resemble
Congenital contractural arachnodactyly
Congenital_contractural_arachnodactyly
Medical condition
which encodes fibrillin-1. Fibrillin-1 is an extracellular matrix protein that is found in microfibrils; defects in the fibrillin-1 protein cause the
MASS_syndrome
Fiber-like protein strand
mutations in the gene encoding for the fibrillin-1 protein impact nearly every one of its domains. Such defects in fibrillin-1 affect the signaling of TGFβ, as
Microfibril
Spider fingers
contractural arachnodactyly, which is caused by mutation in the gene encoding fibrillin-2 on chromosome 5q23. It remains unconfirmed whether Russian composer
Arachnodactyly
British multinational pharmacy store chain
formerly, No. 7 Refine & Rewind Beauty Serum stimulated the production of fibrillin-1 and appeared to smooth out wrinkles, (published in the British Journal
Boots_(company)
Medical condition
Myhre syndrome. This condition has been associated with mutations in the Fibrillin 1 (FBN1) gene. Mutations in this gene have also been associated with stiff
Acromicric_dysplasia
Medical condition
encodes profibrillin, and affects the cleavage products of profibrillin, fibrillin-1, a fibrous structural protein, and asprosin, a glucogenic protein hormone
Marfanoid–progeroid–lipodystrophy syndrome
Marfanoid–progeroid–lipodystrophy_syndrome
Human chromosome
is found on chromosome 15, as well as the FBN1 gene, coding for both fibrillin-1 (a protein critical to the proper functioning of connective tissue),
Chromosome_15
Medical condition
Denver. 19 February 2016. Retrieved 2016-02-23. "FBN1 fibrillin 1". Entrez Gene. Online Mendelian Inheritance in Man (OMIM): FIBRILLIN 1; FBN1 - 134797
Stiff_skin_syndrome
Ada Lueke. It is caused by a number of recessive mutations affecting fibrillin-1, a major component of microfibrils. It affects several organ systems
Musladin-Lueke_syndrome
Leakage of fluid surrounding the brain and spinal cord through tears in the dura mater
Abnormal findings of fibrillin-1 have been documented in these CSF leak patients, but only one patient demonstrated a fibrillin-1 defect consistent with
Cerebrospinal_fluid_leak
Category of diseases
dominant characteristic, due to mutations in the FBN1 gene that encodes fibrillin 1. Homocystinuria - condition of methionine metabolism brought on by a
Connective_tissue_disease
Protein domain named after the epidermal growth factor protein
components of the extracellular matrix like fibrillin and LTBP-1 (Latent-transforming growth factor beta-binding protein 1). In addition to the aforementioned
EGF-like_domain
Influence of a single gene on multiple phenotypic traits
disorder which affects 1 in 5–10,000 people. MFS arises from a mutation in the FBN1 gene, which encodes for the glycoprotein fibrillin-1, a major constituent
Pleiotropy
Natural, unexpected death from cardiac arrest of athletes
the FBN1 gene on chromosome 15, which encodes the connective protein fibrillin-1, inherited as a dominant trait. This protein is essential for synthesis
Sudden cardiac death of athletes
Sudden_cardiac_death_of_athletes
Protein allowing tissue in the body to resume shape after stretching
Elastic fiber in the body is a mixture of amorphous elastin and fibrous fibrillin. Both components are primarily made of smaller amino acids such as glycine
Elastin
Alteration in the nucleotide sequence of a genome
mutations in the FBN1 gene, located on chromosome 15, which encodes fibrillin-1, a glycoprotein component of the extracellular matrix. Marfan syndrome
Mutation
Tear of the inner lining of the vertebral artery
from mutations in the FBN1 gene, defective production of the protein fibrillin-1, and a number of physical abnormalities including aneurysm of the aortic
Vertebral_artery_dissection
Medical condition
from that of the normal tricuspid aortic valve, specifically reduced Fibrillin-1. It is currently believed that an increase in the ratio of MMP2 (Matrix
Bicuspid_aortic_valve
Elimination of mRNA with premature stop codons in eukaryotes
mutations in the fibrillin-1 (FBN1) gene and results from a dominant-negative interaction between mutant and wild-type fibrillin-1 gene. NMD plays a
Nonsense-mediated_decay
Chemical compound
code used for this is Hyn. The modified amino acid residue is found in fibrillin-1. This amino acid is also found in urine. Glanville, RW; Qian, RQ; McClure
3-Hydroxyasparagine
Human genetic cluster on chromosome 6
Tenascin X interacts with other extracellular matrix proteins such as fibrillin-1 and collagen and is thought to play a role in regulating their organization
RCCX
Type of skin care
Cho, Hee Chul Eun, and Jin Ho Chung, Heat Modulation of Tropoelastin, Fibrillin-1, and MatrixMetalloproteinase-12 in Human Skin In VivoJ Invest Dermatol
Natural_skin_care
Medical condition
in the participants of the study: 1q21.1 duplication, found in 3 out of the 143 patients with AIS (2.1%) and in 1 out of the 1,079 control subjects (0.09%)
Adolescent idiopathic scoliosis
Adolescent_idiopathic_scoliosis
Type of connective tissue in animals
give rise to 1-2 micron spherules which continue to grow as they move down from the cells surface before being deposited onto fibrillin microfibrillar
Elastic_fiber
Protein-coding gene in the species Homo sapiens
fibulin-2 with fibrillin-1 and fibronectin define different stages of skin regeneration". The Journal of Investigative Dermatology. 112 (1): 97–101. doi:10
FBLN2
Protein-coding gene in the species Homo sapiens
PMID 16685658. El-Hallous E, Sasaki T, Hubmacher D, et al. (2007). "Fibrillin-1 interactions with fibulins depend on the first hybrid domain and provide
EFEMP2
Protein-coding gene in the species Homo sapiens
(2002). "Microfibril-associated glycoprotein-2 interacts with fibrillin-1 and fibrillin-2 suggesting a role for MAGP-2 in elastic fiber assembly". J.
MFAP5
German-American physician-geneticist
patients into distinct subtypes based on quantitative differences in fibrillin-1 biosynthesis and extracellular matrix deposition, with implications for
Uta_Francke
Protein-coding gene in the species Homo sapiens
MA, Weiss AS (2001). "Protein interaction studies of MAGP-1 with tropoelastin and fibrillin-1". J. Biol. Chem. 276 (43): 39661–6. doi:10.1074/jbc.M104533200
MFAP2
Veterinary antipsychotic
"Generation of heterozygous fibrillin-1 mutant cloned pigs from genome-edited foetal fibroblasts". Scientific Reports. 6 (1) 24413. Bibcode:2016NatSR.
Mafoprazine
Ring of fibers suspending the eye's lens
pigmentosa. The zonules are primarily made of fibrillin, a connective tissue protein. Mutations in the fibrillin gene lead to the condition Marfan syndrome
Zonule_of_Zinn
Type of tissue
purple/black with Verhoeff's stain. The extracellular matrix contains elastin, fibrillin, glycoproteins, collagen types II, IX, X, and XI, and the proteoglycan
Elastic_cartilage
Protein-coding gene in the species Homo sapiens
LTBP family possessing unique regions and with most similarity to the fibrillins. It has thus been suggested that it may have multiple functions: as a
LTBP2
Extracellular matrix protein
neuromuscular junctions. Splice variants f and g have >99% similarity to fibrillin-1, an ECM protein that is a structural component of calcium binding microfibrils
SNED1
Australian molecular biologist and academic
2021). "Proof-of-Concept: Antisense Oligonucleotide Mediated Skipping of Fibrillin-1 Exon 52". International Journal of Molecular Sciences. 22 (7): 3479.
Steve_Wilton
Protein found in humans
Keratin 1 (K1) is a Type II intermediate filament (IFs) of the intracytoplasmatic cytoskeleton. It is co-expressed with and binds to Keratin 10, a Type
Keratin_1
Protein-coding gene in the species Homo sapiens
Plakophilin-1 is a protein that in humans is encoded by the PKP1 gene. This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families
Plakophilin-1
Protein-coding gene in the species Homo sapiens
Alpha-actinin-1 is a protein that in humans is encoded by the ACTN1 gene. Alpha actinins belong to the spectrin gene superfamily which represents a diverse
Alpha-actinin-1
Protein-coding gene in humans
Cofilin 1 (non-muscle; n-cofilin), also known as CFL1, is a human gene, part of the ADF/cofilin family. Cofilin is a widely distributed intracellular
Cofilin_1
Mammalian protein found in humans
Catenin beta-1, also known as β-catenin (beta-catenin), is a protein that in humans is encoded by the CTNNB1 gene. β-Catenin is a dual function protein
Catenin_beta-1
Eukaryotic motor protein
giant axon of the squid. The founding member of this superfamily, kinesin-1, was isolated as a heterotetrameric fast axonal organelle transport motor
Kinesin
Microtubule minus-end binding human protein
Calmodulin-regulated spectrin-associated protein 1 (CAMSAP1) is a human protein encoded by the gene CAMSAP1. Like other CAMSAP-family proteins, it is
CAMSAP1
Protein-coding gene in the species Homo sapiens
Tropomodulin-1 is a protein that in humans is encoded by the TMOD1 gene. GRCm38: Ensembl release 89: ENSMUSG00000028328 – Ensembl, May 2017 "Human PubMed
Tropomodulin_1
Protein-coding gene in the species Homo sapiens
1, also known as ANK-1, and erythrocyte ankyrin, is a protein that in humans is encoded by the ANK1 gene. The protein encoded by this gene, Ankyrin 1
Ankyrin-1
Cytokine
underlying defect in Marfan syndrome is faulty synthesis of the glycoprotein fibrillin I, normally an important component of elastic fibers, it has been shown
Transforming growth factor beta
Transforming_growth_factor_beta
Thin fibrous layer between the cells and the adjacent connective tissue in animals
attaches to the basal lamina with collagen VII anchoring fibrils and fibrillin microfibrils. The glomerular basement membrane of the kidney, is an unusually
Basement_membrane
Family of motor proteins
2002). "The myosin power stroke". Cell Motility and the Cytoskeleton. 51 (1): 1–15. doi:10.1002/cm.10014. PMID 11810692. von der Ecken J, Heissler SM, Pathan-Chhatbar
Myosin
Protein-coding gene in the species Homo sapiens
Profilin-1 is a protein that in humans is encoded by the PFN1 gene. The PFN1 protein, also known as profilin-1, is a small, monomeric protein composed
Profilin_1
Protein-coding gene in the species Homo sapiens
2, pyropoikilocytosis, and spherocytic hemolytic anemia. Spectrin, alpha 1 has been shown to interact with Abl gene. GRCh38: Ensembl release 89: ENSG00000163554
Spectrin,_alpha_1
Medical condition in which superficial veins become large and twisted
long-living proteins, i.e. collagen or elastin, or lifelong proteins, i.e. fibrillin. These long-term effects are difficult to establish in clinical trials
Varicose_veins
Type of biological tissue in animals
2021 Biga, Lindsay M.; Dawson, Sierra; Harwell, Amy (26 September 2019). "4.1 Types of Tissues". Retrieved 30 July 2022. Mathews, M. B. (1975). Connective
Connective_tissue
Species of bacterium
protein found on keratinocytes. FAF also interacts with collagen and fibrillin, which helps the bacterium to colonize and establish infection in the
Finegoldia_magna
Network of filamentous proteins that forms the internal framework of cells
(2001). "Bridging cytoskeletal intersections". Genes & Development. 15 (1): 1–14. doi:10.1101/gad.861501. PMID 11156599. Cooper, Geoffrey M. (2000). "Actin
Cytoskeleton
plastids of flowering plants. It shows sequence similarities to the PAP/fibrillin family. PGL and similar proteins can be found in most algae, cyanobacteria
Plastoglobulin
Protein-coding gene in humans
evidence for the manifestations of Mendelian diseases". Scientific Reports. 9 (1) 18577. Bibcode:2019NatSR...918577S. doi:10.1038/s41598-019-54976-4. PMC 6901466
Filamin-A
Polymer of tubulin that forms part of the cytoskeleton
of 200-1000 kDa, of which there are four known types: MAP-1, MAP-2, MAP-3 and MAP-4. MAP-1 proteins consists of a set of three different proteins: A,
Microtubule
Structural fibrous protein
PMID 11557780. Mercer DK, Stewart CS (1 January 2019). "Keratin hydrolysis by dermatophytes". Medical Mycology. 57 (1): 13–22. doi:10.1093/mmy/myx160. PMID 29361043
Keratin
Protein domain
overlapping binding sites for several basement-membrane proteins, tropoelastin, fibrillin, fibronectin and proteoglycans, and they participate in diverse supramolecular
Fibulin
Group of six protein isoforms produced from the MAPT gene
disassembles microtubules and sequesters normal tau, MAPT 1 (microtubule associated protein tau 1), MAPT 2 and ubiquitin into tangles of PHFs. This insoluble
Tau_protein
Family of cytokeratins
Gelsolin Profilin 1 2 Titin Other Wiskott–Aldrich syndrome protein Fibrillin Filamin FLNA FLNB FLNC Espin TRIOBP Intermediate filaments Type 1/2 (Keratin, Cytokeratin)
Type_I_keratin
Infraphylum of vertebrates
ISBN 978-1-4987-0756-5. Retrieved 14 September 2016. Rodriguez-Pascual, Fernando (27 October 2021), "The Evolutionary Origin of Elastin: Is Fibrillin the Lost
Gnathostomata
Protein-coding gene in the species Homo sapiens
a gene for autosomal dominant Larsen syndrome to chromosome region 3p21.1-14.1 in the proximity of, but distinct from, the COL7A1 locus". Am. J. Hum. Genet
Filamin-B
Protein-coding gene in the species Homo sapiens
sarcoglycan interacting protein". The Journal of Cell Biology. 148 (1): 115–26. doi:10.1083/jcb.148.1.115. PMC 3207142. PMID 10629222. van der Ven PF, Wiesner S
Filamin-C
Largest known protein in human muscles
protein that in humans is encoded by the TTN gene. The protein, which is over 1 μm in length, functions as a molecular spring that is responsible for the
Titin
Mammalian protein found in Homo sapiens
of microfibrillar-associated protein 4 (MFAP4) as a tropoelastin- and fibrillin-binding protein involved in elastic fiber formation". Journal of Biological
MFAP4
Protein-coding gene in the species Homo sapiens
the ankyrinG gene (ANK3/Ank3) to human 10q21 and mouse 10". Genomics. 27 (1): 189–191. doi:10.1006/geno.1995.1023. PMID 7665168. Lambert S, Davis JQ,
Ankyrin-3
Language used to describe the human body
process, or procedure.[citation needed] Suffixes are categorized as either (1) needing the combining form, or (2) not needing the combining form since they
Medical_terminology
Protein family
Braunwald's Heart Disease. Elsevier Saunders. 2015. p. 433. ISBN 978-1-4557-5134-1. Michael A. Chen. "Troponin test". MedlinePlus, U.S. National Library
Troponin_T
American geneticist
"Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene". Nature. 352 (6333): 337–339. Bibcode:1991Natur.352..337D. doi:10
Clair_Francomano
Protein complex
the cTnI–TnC binary complex, especially in the presence of Ca2+ (KA = 1.5 × 10−8 M−1). TnC, forming a complex with cTnI, changes the conformation of cTnI
Troponin
Mammalian protein found in homo sapiens
Gelsolin Profilin 1 2 Titin Other Wiskott–Aldrich syndrome protein Fibrillin Filamin FLNA FLNB FLNC Espin TRIOBP Intermediate filaments Type 1/2 (Keratin, Cytokeratin)
KIF18B
Family of proteins that form microfilaments
migrate (Cell migration). Actin is extremely abundant in most cells, comprising 1–5% of the total protein mass of most cells, and 10% of muscle cells. The actin
Actin
Type IV intermediate filaments found in the cytoplasm of neurons
time scales (seconds or minutes), with average velocities of approximately 1 μm/s. However, the average velocity on longer time scales (hours or days)
Neurofilament
Superfamily of proteins that make up microtubules
2002). "Microtubule dynamics". Journal of Cell Science. 115 (Pt 1): 3–4. doi:10.1242/jcs.115.1.3. PMID 11801717. Howard J, Hyman AA (April 2003). "Dynamics
Tubulin
Protein-coding gene in the species Homo sapiens
organized into two domains: the regulatory N-terminal domain (cNTnC, residues 1-86), the structural C-terminal domain (cCTnC, residues 93-161), and a flexible
Troponin C, slow skeletal and cardiac muscles
Troponin_C,_slow_skeletal_and_cardiac_muscles
Type III intermediate filament protein
"Vimentin: an evaluation of its role as a tumour marker". Histopathology. 11 (1): 63–72. doi:10.1111/j.1365-2559.1987.tb02609.x. PMID 2435649. S2CID 34804720
Vimentin
Protein family
guttata): implications for feather evolution". BMC Evolutionary Biology. 10 (1): 148. Bibcode:2010BMCEE..10..148G. doi:10.1186/1471-2148-10-148. PMC 2894828
Beta-keratin
Filament in the cytoplasm of eukaryotic cells
per-filament forces of 8–9 pN, which is far greater than the per-filament limit of 1–2 pN for motors operating without ATP hydrolysis. The term actoclampin is
Actin_filament
Class of enzymes
unique subunits. Cytoplasmic dynein, which has a molecular mass of about 1.5 megadaltons (MDa), is a dimer of dimers, containing approximately twelve
Dynein
Protein-coding gene in the species Homo sapiens
"Actin, a reliable marker of internal control?". Clinica Chimica Acta. 385 (1): 1–5. doi:10.1016/j.cca.2007.07.003. ISSN 0009-8981. PMID 17698053. Zupanc
Beta-actin
Protein found in Homo sapiens
calcium-binding protein". Molecular and Cellular Biology. 13 (1): 613–625. doi:10.1128/MCB.13.1.613. PMC 358940. PMID 8417356. Kypriotou M, Huber M, Hohl
Filaggrin
Protein filaments of myofibrils in muscle cells
filaments with plasma gelsolin". The Journal of Cell Biology. 110 (1): 53–62. doi:10.1083/jcb.110.1.53. ISSN 0021-9525. PMC 2115976. PMID 2153147. Alberts, Bruce
Myofilament
Fibrous proteins
Structure, Assembly, and Interactions". Journal of Structural Biology. 122 (1): 42–66. doi:10.1006/jsbi.1998.3987. PMID 9724605. Dechat, Thomas; Adam, Stephen
Lamin
Muscle protein family
Evolution, regulation, and protein structure-function relationships". Gene. 576 (1 Pt 3): 385–94. doi:10.1016/j.gene.2015.10.052. PMC 5798203. PMID 26526134
Troponin_I
Protein-coding gene in the species Homo sapiens
neurofilament proteins". The Journal of Cell Biology. 143 (1): 1–4. doi:10.1083/jcb.143.1.1. PMC 2132816. PMID 9763415. Beaudet L, Charron G, Julien JP
Neurofilament light polypeptide
Neurofilament_light_polypeptide
Protein-coding gene in the species Homo sapiens
muscle is a protein that in humans is encoded by the ACTA1 gene. Actin alpha 1 which is expressed in skeletal muscle is one of six different actin isoforms
Actin,_alpha_skeletal_muscle
Protein-coding gene in the species Homo sapiens
cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID 8125298. Suzuki Y, Yoshitomo-Nakagawa
TUBA1C
Mammalian protein found in humans
array of proteins". Annual Review of Biochemistry. 70 (1): 649–76. doi:10.1146/annurev.biochem.70.1.649. PMID 11395419. Prehoda KE, Scott JA, Mullins RD
Wiskott–Aldrich syndrome protein
Wiskott–Aldrich_syndrome_protein
Rod-shaped cytoplasmic protein
www.uniprot.org. Retrieved 1 December 2021. Piovesan A, Caracausi M, Antonaros F, Pelleri MC, Vitale L (2016). "GeneBase 1.1: a tool to summarize data
Dystrophin
Protein-coding gene in the species Homo sapiens
PMID 32494274. Snásel J, Pichová I (1997). "The cleavage of host cell proteins by HIV-1 protease". Folia Biologica. 42 (5): 227–230. doi:10.1007/BF02818986. PMID 8997639
ACTA2
Type III intermediate filament protein
GFAP expression has also been reported in Wernicke's encephalopathy. The HIV-1 viral envelope glycoprotein gp120 can directly inhibit the phosphorylation
Glial fibrillary acidic protein
Glial_fibrillary_acidic_protein
Protein found in humans
(1986). "Linkage of human keratin genes". Cytogenetics and Cell Genetics. 42 (1–2): 65–71. doi:10.1159/000132253. PMID 2424675. Marchuk D, McCrohon S, Fuchs
Keratin_15
Protein found in humans
dissociated from adherens contacts between cells. With the help of casein kinase 1 (CK1), which carries out an initial phosphorylation of β-catenin, GSK-3β is
Adenomatous_polyposis_coli
that run parallel to the tooth surface and bend to attach to cementum. Fibrillin builds the oxytalan fibers, which causes the elastic behavior. In the
Oxytalan
Protein found in humans
Gelsolin Profilin 1 2 Titin Other Wiskott–Aldrich syndrome protein Fibrillin Filamin FLNA FLNB FLNC Espin TRIOBP Intermediate filaments Type 1/2 (Keratin, Cytokeratin)
Synemin
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