FBN1

Fibrillin 1

PDB rendering based on 1apj.

Available structures

Ortholog search: PDBe, RCSB

List of PDB id codes
1APJ, 1EMN, 1EMO, 1LMJ, 1UZJ, 1UZK, 1UZP, 1UZQ, 2M74, 2W86

Identifiers

Symbols

FBN1 ; ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1; OCTD; SGS; SSKS; WMS; WMS2

External IDs

OMIM: 134797 MGI: 95489 HomoloGene: 30958 GeneCards: FBN1 Gene

Gene ontology
Molecular function	• extracellular matrix structural constituent • calcium ion binding • protein binding
Cellular component	• microfibril • extracellular region • proteinaceous extracellular matrix • basement membrane • extracellular space • extracellular matrix • extracellular vesicular exosome
Biological process	• skeletal system development • kidney development • heart development • extracellular matrix disassembly • extracellular matrix organization • sequestering of BMP in extracellular matrix • sequestering of TGFbeta in extracellular matrix
Sources: Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 15:
48.7 – 48.94 Mb

Chr 2:
125.3 – 125.51 Mb

PubMed search

Fibrillin-1 is a protein that in humans is encoded by the FBN1 gene, located on chromosome 15.^[1]^[2]

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.^[3]

Clinical aspect

Mutations in FBN1 and FBN2 are associated with adolescent idiopathic scoliosis .^[4]

References

↑ Biery NJ, Eldadah ZA, Moore CS, Stetten G, Spencer F, Dietz HC (May 1999). "Revised genomic organization of FBN1 and significance for regulated gene expression". Genomics 56 (1): 70–7. doi:10.1006/geno.1998.5697. PMID 10036187.
↑ Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR, Le Merrer M, Collod-Beroud G, Boileau C, Munnich A, Cormier-Daire V (Jan 2003). "In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome". J Med Genet 40 (1): 34–6. doi:10.1136/jmg.40.1.34. PMC 1735272. PMID 12525539.
↑ "Entrez Gene: FBN1 fibrillin 1".
↑ Buchan, J. G.; Alvarado, D. M.; Haller, G. E.; Cruchaga, C; Harms, M. B.; Zhang, T; Willing, M. C.; Grange, D. K.; Braverman, A. C.; Miller, N. H.; Morcuende, J. A.; Tang, N. L.; Lam, T. P.; Ng, B. K.; Cheng, J. C.; Dobbs, M. B.; Gurnett, C. A. (2014). "Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis". Human Molecular Genetics 23: 5271–5282. doi:10.1093/hmg/ddu224. PMID 24833718.

External links

GeneReviews/NCBI/NIH/UW entry on Marfan Syndrome

Hayward C, Brock DJ (1998). "Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies". Hum. Mutat. 10 (6): 415–23. doi:10.1002/(SICI)1098-1004(1997)10:6<415::AID-HUMU1>3.0.CO;2-C. PMID 9401003.
Robinson PN, Godfrey M (2000). "The molecular genetics of Marfan syndrome and related microfibrillopathies". J. Med. Genet. 37 (1): 9–25. doi:10.1136/jmg.37.1.9. PMC 1734449. PMID 10633129.
Handford PA (2001). "Fibrillin-1, a calcium binding protein of extracellular matrix". Biochim. Biophys. Acta 1498 (2–3): 84–90. doi:10.1016/s0167-4889(00)00085-9. PMID 11108952.
Robinson PN, Booms P, Katzke S et al. (2002). "Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies". Hum. Mutat. 20 (3): 153–61. doi:10.1002/humu.10113. PMID 12203987.
Adès LC, Holman KJ, Brett MS et al. (2004). "Ectopia lentis phenotypes and the FBN1 gene". Am. J. Med. Genet. A 126 (3): 284–9. doi:10.1002/ajmg.a.20605. PMID 15054843.
Milewicz DM, Dietz HC, Miller DC (2005). "Treatment of aortic disease in patients with Marfan syndrome". Circulation 111 (11): e150–7. doi:10.1161/01.CIR.0000155243.70456.F4. PMID 15781745.
Boileau C, Jondeau G, Mizuguchi T, Matsumoto N (2005). "Molecular genetics of Marfan syndrome". Curr. Opin. Cardiol. 20 (3): 194–200. doi:10.1097/01.hco.0000162398.21972.cd. PMID 15861007.
Whiteman P, Hutchinson S, Handford PA (2006). "Fibrillin-1 misfolding and disease". Antioxid. Redox Signal. 8 (3–4): 338–46. doi:10.1089/ars.2006.8.338. PMID 16677079.

PDB gallery

1apj: NMR STUDY OF THE TRANSFORMING GROWTH FACTOR BETA BINDING PROTEIN-LIKE DOMAIN (TB MODULE/8-CYS DOMAIN), NMR, 21 STRUCTURES

1emn: NMR STUDY OF A PAIR OF FIBRILLIN CA2+ BINDING EPIDERMAL GROWTH FACTOR-LIKE DOMAINS, MINIMIZED AVERAGE STRUCTURE

1emo: NMR STUDY OF A PAIR OF FIBRILLIN CA2+ BINDING EPIDERMAL GROWTH FACTOR-LIKE DOMAINS, 22 STRUCTURES

1lmj: NMR Study of the Fibrillin-1 cbEGF12-13 Pair of Ca2+ Binding Epidermal Growth Factor-like Domains

1uzj: INTEGRIN BINDING CBEGF22-TB4-CBEGF33 FRAGMENT OF HUMAN FIBRILLIN-1, HOLO FORM.

1uzk: INTEGRIN BINDING CBEGF22-TB4-CBEGF33 FRAGMENT OF HUMAN FIBRILLIN-1, CA BOUND TO CBEGF23 DOMAIN ONLY

1uzp: INTEGRIN BINDING CBEGF22-TB4-CBEGF33 FRAGMENT OF HUMAN FIBRILLIN-1, SM BOUND FORM CBEGF23 DOMAIN ONLY.

1uzq: INTEGRIN BINDING CBEGF22-TB4-CBEGF33 FRAGMENT OF HUMAN FIBRILLIN-1, APO FORM CBEGF23 DOMAIN ONLY.

Connective tissue

Physiology

Classification

Proper

Loose	Reticular Adipose Brown White

Dense	Dense irregular connective tissue Submucosa Dermis Dense regular connective tissue Ligament Tendon Aponeurosis

Embryonic

Specialized

Composition

Cells

Resident	Fibroblast Fibrocyte Reticular cell Tendon cell Adipocyte Melanocyte

Wandering cells	Mast cell Macrophage

Extracellular
matrix

Ground substance	Tissue fluid

Fibers	Collagen fibers Reticular fibers: COL3A1 Elastic fibers: Elastin Fibrillin FBN1 FBN2 FBN3 EMILIN1 Elaunin

Index of skin

Description	Anatomy Physiology connective tissue Development

Disease	Infections by morphology Vesiculobullous Dermatitis and eczema factitial Papulosquamous Urticaria and erythema Radiation-related Pigmentation Mucinoses Keratosis, ulcer, atrophy, and necrobiosis Vasculitis Fat Neutrophilic and eosinophilic Congenital Neoplasms and cancer nevi and melanomas epidermis dermis Symptoms and signs eponymous Terminology

Treatment	Procedures Drugs antibiotics disinfectants emollients and protectives itch psoriasis other Wound and ulcer

Index of muscle

Description	Anatomy head neck arms chest and back diaphragm abdomen genital area legs Muscle tissue Physiology connective tissue

Disease	Myopathy Soft tissue Connective tissue Congenital abdomen muscular dystrophy Neoplasms and cancer Injury Symptoms and signs eponymous

Treatment	Procedures Drugs anti-inflammatory muscle relaxants

FBN1

Clinical aspect

See also

References

External links

Further reading