FBN1

Fibrillin 1

Rendering PDB berdasarkan 1apj.

Struktur tersedia

PDB

Ortholog search: PDBe, RCSB

Daftar kode id PDB
1APJ, 1EMN, 1EMO, 1LMJ, 1UZJ, 1UZK, 1UZP, 1UZQ, 2W86

Tanda pengenal

Simbol

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

ID eksternal

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

Gene Ontology
Fungsi molekul	• extracellular matrix structural constituent • calcium ion binding • protein binding
Komponen sel	• microfibril • extracellular region • proteinaceous extracellular matrix • basement membrane • extracellular space • extracellular matrix
Proses biologis	• skeletal system development • heart development • sequestering of BMP in extracellular matrix • sequestering of TGFbeta in extracellular matrix
Sumber: Amigo / QuickGO

Pola ekspresi RNA

Data ekspresi referensi

Orthologs

Spesies

Manusia

Tikus

Entrez

2200

14118

Ensembl

ENSG00000166147

ENSMUSG00000027204

UniProt

P35555

A2AQ53

RefSeq (mRNA)

NM_000138.4

NM_007993.2

RefSeq (protein)

NP_000129.3

NP_032019.2

Lokasi (UCSC)

Chr 15:
48.7 – 48.94 Mb

Chr 2:
125.3 – 125.51 Mb

PubMed

[1]

[2]

Fibrillin-1 adalah sebuah protein manusia yang dikodekan oleh gen FBN1.^[1]^[2]

Gen ini mengkodekan satu anggota keluarga fibrillin. Protein yang dikodekan berupa sebuah glikoprotein matriks ekstraseluler besar yang berperan sebagai komponen struktural mikrofibril pengikat kalsium 10-12 nm. Mikrofibril tersebut memperkuat struktur jaringan ikat elastis dan nonelastis di seluruh tubuh. Mutasi gen ini berkaitan dengan sindrom Marfan, ectopia lentis yang terisolasi, sindrom Weill-Marchesani dominan autosomal, sindrom MASS, dan sindrom kraniosinostosis Shprintzen-Goldberg.^[3]

Lihat pula

Fibrillin

Referensi

^ Biery NJ, Eldadah ZA, Moore CS, Stetten G, Spencer F, Dietz HC (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. Parameter |month= yang tidak diketahui akan diabaikan (bantuan)Pemeliharaan CS1: Banyak nama: authors list (link)
^ 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 (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. Parameter |month= yang tidak diketahui akan diabaikan (bantuan)Pemeliharaan CS1: Banyak nama: authors list (link)
^ "Entrez Gene: FBN1 fibrillin 1". Diarsipkan dari versi asli tanggal 2009-10-10.

Pranala luar

GeneReviews/NCBI/NIH/UW entry on Marfan Syndrome Diarsipkan 2010-11-22 di Wayback Machine.

Bacaan lanjutan

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. 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. Pemeliharaan CS1: Penggunaan et al. yang eksplisit (link) Pemeliharaan CS1: Banyak nama: authors list (link)
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. Pemeliharaan CS1: Penggunaan et al. yang eksplisit (link) Pemeliharaan CS1: Banyak nama: authors list (link)
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. Pemeliharaan CS1: Banyak nama: authors list (link)
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. Pemeliharaan CS1: Banyak nama: authors list (link)
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. Pemeliharaan CS1: Banyak nama: authors list (link)

l b s Galeri PDB
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.

Galeri PDB

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.