Fbn1 (fibrillin 1) - Rat Genome Database

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Gene: Fbn1 (fibrillin 1) Rattus norvegicus
Symbol: Fbn1
Name: fibrillin 1
RGD ID: 620908
Description: Predicted to enable several functions, including heparin binding activity; identical protein binding activity; and signaling receptor binding activity. Predicted to be an extracellular matrix structural constituent. Involved in cellular response to insulin-like growth factor stimulus; cellular response to transforming growth factor beta stimulus; and metanephros development. Located in collagen-containing extracellular matrix and extracellular region. Biomarker of glomerulonephritis; hypertension; liver cirrhosis; mesangial proliferative glomerulonephritis; and type 2 diabetes mellitus. Human ortholog(s) of this gene implicated in several diseases, including CREST syndrome; Weill-Marchesani syndrome; aortic disease (multiple); autosomal dominant isolated ectopia lentis 1; and bone disease (multiple). Orthologous to human FBN1 (fibrillin 1); INTERACTS WITH 1-naphthyl isothiocyanate; 2,3,7,8-tetrachlorodibenzodioxine; 3,3',4,4',5-pentachlorobiphenyl.
Type: protein-coding
Previously known as: fibrillin-1
RGD Orthologs
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Candidate Gene For: Vetf4
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Rat AssemblyChrPosition (strand)SourceGenome Browsers
mRatBN7.23112,554,257 - 112,750,835 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3112,554,925 - 112,750,889 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3116,414,669 - 116,616,220 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.03125,010,184 - 125,211,733 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.03122,670,545 - 122,872,088 (-)NCBIRnor_WKY
Rnor_6.03117,569,708 - 117,766,160 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3117,569,697 - 117,766,120 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03124,094,458 - 124,290,346 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43112,608,480 - 112,804,118 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13112,514,052 - 112,709,691 (-)NCBI
Celera3111,411,207 - 111,605,886 (-)NCBICelera
Cytogenetic Map3q36NCBI
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations     Click to see Annotation Detail View
achondroplasia  (ISO)
acromicric dysplasia  (ISO)
Albuminuria  (ISO)
Alstrom syndrome  (ISO)
Aneurysm  (ISO)
aortic aneurysm  (ISO)
aortic disease  (ISO)
aortic dissection  (ISO)
Aortic Rupture  (ISO)
aortic valve insufficiency  (ISO)
Arachnodactyly  (ISO)
arthrogryposis, renal dysfunction, and cholestasis 1  (ISO)
autosomal dominant isolated ectopia lentis 1  (ISO)
Beaulieu-Boycott-Innes Syndrome  (ISO)
Bloom syndrome  (ISO)
Brugada syndrome 1  (ISO)
Cardiac Fibrosis  (IEP)
cataract  (ISO)
cerebral infarction  (ISO)
colorectal cancer  (ISO)
congenital diaphragmatic hernia  (ISO)
connective tissue disease  (ISO)
craniosynostosis  (ISO)
Craniosynostosis Syndrome, Autosomal Recessive  (ISO)
CREST syndrome  (ISO)
Diabetic Nephropathies  (ISO)
Disproportionate Tall Stature  (ISO)
Dwarfism  (ISO)
Dwarfism with Tall Vertebrae  (ISO)
Ectopia Lentis  (ISO)
Emphysema  (ISO)
endometriosis  (ISO)
Experimental Diabetes Mellitus  (IEP)
Experimental Liver Cirrhosis  (ISO)
Familial Thoracic Aortic Aneurysm 1  (ISO)
Familial Thoracic Aortic Aneurysm 2  (ISO)
Familial Thoracic Aortic Aneurysm 6  (ISO)
Flatfoot  (ISO)
Funnel Chest  (ISO)
geleophysic dysplasia  (ISO)
geleophysic dysplasia 2  (ISO)
genetic disease  (ISO)
glomerulonephritis  (IEP)
glomerulosclerosis  (ISO)
heart disease  (ISO,ISS)
High Myopia  (ISO)
Hirschsprung Disease 1  (ISO)
Hirschsprung's disease  (ISO)
hydronephrosis  (ISO)
hyperglycemia  (ISO)
hyperinsulinism  (ISO)
hypertension  (IEP)
isolated ectopia lentis  (ISO)
Joint Instability  (ISO)
lens subluxation  (ISO)
liver cirrhosis  (IEP,ISO)
Liver Injury  (IEP)
Loeys-Dietz syndrome  (ISO)
Loeys-Dietz syndrome 2  (ISO)
Marfan Lipodystrophy Syndrome  (ISO)
Marfan syndrome  (ISO)
Marfan Syndrome, Autosomal Recessive  (ISO)
Marfanoid Hypermobility Syndrome  (ISO)
MASS Syndrome  (ISO)
melanoma  (ISO)
mesangial proliferative glomerulonephritis  (IEP)
Metaphyseal Chondrodysplasia  (ISO)
mitral valve insufficiency  (ISO)
mitral valve prolapse  (ISO)
mixed connective tissue disease  (ISO)
myopathy  (ISO)
myopia  (ISO)
osteomalacia  (ISO)
osteoporosis  (ISO)
Pectus Carinatum  (ISO)
Perrault Syndrome 1  (ISO)
Polycystic Liver Disease 1  (ISO)
scoliosis  (ISO)
stiff skin syndrome  (ISO)
Striae Distensae  (ISO)
Stroke  (ISO)
systemic scleroderma  (ISO,ISS)
thoracic aortic aneurysm  (ISO)
type 2 diabetes mellitus  (IEP)
ureteral obstruction  (ISO)
Weill-Marchesani syndrome  (ISO)
Weill-Marchesani Syndrome 2  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (ISO)
(S)-nicotine  (ISO)
1-naphthyl isothiocyanate  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3-chloropropane-1,2-diol  (EXP)
4,4'-diaminodiphenylmethane  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (EXP)
acetamide  (EXP)
acetylcholine  (ISO)
acrylamide  (EXP,ISO)
all-trans-retinoic acid  (ISO)
ammonium chloride  (EXP)
antirheumatic drug  (ISO)
aristolochic acid A  (ISO)
arsenite(3-)  (ISO)
atrazine  (EXP)
belinostat  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (ISO)
bisphenol F  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
captan  (ISO)
carbon nanotube  (ISO)
carmustine  (ISO)
CGP 52608  (ISO)
chlorogenic acid  (ISO)
chloroprene  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
cisplatin  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
cyclosporin A  (ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
diethyl maleate  (EXP)
diuron  (EXP)
dorsomorphin  (ISO)
doxorubicin  (ISO)
endosulfan  (EXP)
entinostat  (ISO)
ethanol  (ISO)
fenamidone  (ISO)
folic acid  (ISO)
folpet  (ISO)
fulvestrant  (ISO)
furan  (EXP)
geldanamycin  (ISO)
genistein  (ISO)
gentamycin  (EXP)
indometacin  (ISO)
inulin  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
lead(0)  (ISO)
lead(2+)  (ISO)
leflunomide  (ISO)
manganese(II) chloride  (EXP)
methapyrilene  (ISO)
methylmercury chloride  (ISO)
morphine  (ISO)
N-nitrosodimethylamine  (EXP)
nickel atom  (ISO)
nickel sulfate  (ISO)
nicotine  (ISO)
nitrofen  (EXP)
oxaliplatin  (EXP)
paclitaxel  (ISO)
panobinostat  (ISO)
paracetamol  (EXP,ISO)
pentane-2,3-dione  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenylephrine  (ISO)
phenylmercury acetate  (ISO)
Pomiferin  (ISO)
potassium chromate  (ISO)
potassium dichromate  (ISO)
pravastatin  (ISO)
prostaglandin I2  (ISO)
puerarin  (ISO)
Rosavin  (ISO)
rotenone  (EXP)
SB 431542  (ISO)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
sunitinib  (ISO)
testosterone  (ISO)
tetrachloromethane  (EXP,ISO)
tetradecane  (EXP)
tetrathiomolybdate(2-)  (EXP)
thimerosal  (ISO)
thioacetamide  (EXP)
thromboxane A2  (ISO)
titanium dioxide  (ISO)
topotecan  (EXP)
triadimefon  (ISO)
Tributyltin oxide  (ISO)
trichostatin A  (ISO)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
undecane  (EXP)
valproic acid  (ISO)
vancomycin  (ISO)
vinclozolin  (EXP)
vorinostat  (ISO)
zaragozic acid A  (EXP,ISO)
zoledronic acid  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function


References - curated
# Reference Title Reference Citation
1. Ectopia lentis phenotypes and the FBN1 gene. Ades LC, etal., Am J Med Genet A. 2004 Apr 30;126(3):284-9.
2. Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome. Ades LC, etal., J Med Genet. 1996 Aug;33(8):665-71.
3. Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies. Arbustini E, etal., Hum Mutat. 2005 Nov;26(5):494.
4. FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations. Attanasio M, etal., Clin Genet. 2008 Jul;74(1):39-46. doi: 10.1111/j.1399-0004.2008.01007.x. Epub 2008 Apr 22.
5. Nonselective assembly of fibrillin 1 and fibrillin 2 in the rodent ocular zonule and in cultured cells: implications for marfan syndrome. Beene LC, etal., Invest Ophthalmol Vis Sci. 2013 Dec 23;54(13):8337-44. doi: 10.1167/iovs.13-13121.
6. Enhanced expression of fibrillin-1, a constituent of the myocardial extracellular matrix in fibrosis. Bouzeghrane F, etal., Am J Physiol Heart Circ Physiol. 2005 Sep;289(3):H982-91. Epub 2005 Apr 22.
7. Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis. Buchan JG, etal., Hum Mol Genet. 2014 Oct 1;23(19):5271-82. doi: 10.1093/hmg/ddu224. Epub 2014 May 15.
8. Juvenile bilateral lens dislocation and glaucoma associated with a novel mutation in the fibrillin 1 gene. Challa P, etal., Mol Vis. 2006 Aug 28;12:1009-15.
9. Association between fibrillin-1 gene exon 15 and 27 polymorphisms and risk of mitral valve prolapse. Chou HT, etal., J Heart Valve Dis. 2003 Jul;12(4):475-81.
10. Loss of elastic fiber integrity and reduction of vascular smooth muscle contraction resulting from the upregulated activities of matrix metalloproteinase-2 and -9 in the thoracic aortic aneurysm in Marfan syndrome. Chung AW, etal., Circ Res. 2007 Aug 31;101(5):512-22. Epub 2007 Jul 19.
11. Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome. De Backer J, etal., Clin Genet. 2007 Sep;72(3):188-98.
12. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. Faivre L, etal., J Med Genet. 2003 Jan;40(1):34-6.
13. A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. Francke U, etal., Am J Hum Genet 1995 Jun;56(6):1287-96.
14. Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome. Franken R, etal., Circ Cardiovasc Genet. 2015 Apr;8(2):383-8. doi: 10.1161/CIRCGENETICS.114.000950. Epub 2015 Jan 22.
15. Genotype impacts survival in Marfan syndrome. Franken R, etal., Eur Heart J. 2016 Nov 14;37(43):3285-3290. Epub 2016 Jan 18.
16. Epigenetic changes and alteration of Fbn1 and Col3A1 gene expression under hyperglycaemic and hyperinsulinaemic conditions. Gaikwad AB, etal., Biochem J. 2010 Dec 1;432(2):333-41. doi: 10.1042/BJ20100414.
17. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
18. Rat ISS GO annotations from GOA human gene data--August 2006 GOA data from the GO Consortium
19. Role of fibrillin-1 in hypertensive and diabetic glomerular disease. Hartner A, etal., Am J Physiol Renal Physiol. 2006 Jun;290(6):F1329-36. Epub 2005 Dec 27.
20. The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family. Hilhorst-Hofstee Y, etal., Hum Mutat. 2010 Dec;31(12):E1915-27. doi: 10.1002/humu.21372.
21. Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis. Hung CC, etal., Anal Biochem. 2009 Jun 15;389(2):102-6. doi: 10.1016/j.ab.2009.03.032. Epub 2009 Mar 27.
22. Marfan syndrome caused by a mutation in FBN1 that gives rise to cryptic splicing and a 33 nucleotide insertion in the coding sequence. Hutchinson S, etal., Hum Genet 2001 Oct;109(4):416-20.
23. Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Kainulainen K, etal., Nat Genet 1994 Jan;6(1):64-9.
24. Isolation of rat fibrillin-1 cDNA and its relevance in metanephric development. Kanwar YS, etal., Am J Physiol 1998 Nov;275(5 Pt 2):F710-23.
25. Association of 5'-untranslated region of the Fibrillin-1 gene with Japanese scleroderma. Kodera T, etal., Gene. 2002 Sep 4;297(1-2):61-7.
26. Molecular pathology of Shprintzen-Goldberg syndrome. Kosaki K, etal., Am J Med Genet A. 2006 Jan 1;140(1):104-8; author reply 109-10.
27. Identification and study of a FBN1 gene mutation in a Chinese family with ectopia lentis. Li H, etal., Mol Vis. 2012;18:504-11. Epub 2012 Feb 24.
28. Identification of a novel FBN1 mutation in a Chinese family with isolated ectopia lentis. Liang C, etal., Mol Vis. 2011;17:3481-5. Epub 2011 Dec 29.
29. A Pkd1-Fbn1 Genetic Interaction Implicates TGF-beta Signaling in the Pathogenesis of Vascular Complications in Autosomal Dominant Polycystic Kidney Disease. Liu D, etal., J Am Soc Nephrol. 2013 Sep 26.
30. Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome. Liu W, etal., Hum Mol Genet. 1996 Oct;5(10):1581-7.
31. Fibrillin-1 expression in normal and fibrotic rat liver and in cultured hepatic fibroblastic cells: modulation by mechanical stress and role in cell adhesion. Lorena D, etal., Lab Invest. 2004 Feb;84(2):203-12.
32. Fibrillin-1 and alpha8 integrin are co-expressed in the glomerulus and interact to convey adhesion of mesangial cells. Marek I, etal., Cell Adh Migr. 2014;8(4):389-95. doi: 10.4161/cam.28988.
33. Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome. Meng B, etal., Mol Vis. 2011;17:2421-7. Epub 2011 Sep 17.
34. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
35. Osteomalacia in hyp mice is associated with abnormal phex expression and with altered bone matrix protein expression and deposition. Miao D, etal., Endocrinology. 2001 Feb;142(2):926-39.
36. Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome. Micheal S, etal., Mol Vis. 2012;18:1918-26. Epub 2012 Jul 18.
37. Electronic Transfer of LocusLink and RefSeq Data NCBI rat LocusLink and RefSeq merged data July 26, 2002
38. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Neptune ER, etal., Nat Genet 2003 Mar;33(3):407-11.
39. Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene. Ogawa N, etal., Am J Cardiol. 2011 Dec 15;108(12):1801-7. doi: 10.1016/j.amjcard.2011.07.053. Epub 2011 Sep 10.
40. Six novel mutations of the fibrillin-1 gene in Korean patients with Marfan syndrome. Oh MR, etal., Pediatr Int. 2000 Oct;42(5):488-91.
41. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
42. Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation. Pepe G, etal., Clin Genet. 2001 Jun;59(6):444-50.
43. A major involvement of the cardiovascular system in patients affected by Marfan syndrome: novel mutations in fibrillin 1 gene. Pepe G, etal., J Mol Cell Cardiol. 1997 Jul;29(7):1877-84.
44. Fibrillin-1 regulates mesangial cell attachment, spreading, migration and proliferation. Porst M, etal., Kidney Int. 2006 Feb;69(3):450-6.
45. Induction and coexpression of latent transforming growth factor beta-binding protein-1 and fibrillin-1 in experimental glomerulonephritis. Porst M, etal., Nephron Exp Nephrol. 2006;102(3-4):e99-104. Epub 2005 Nov 11.
46. Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene. Putnam EA, etal., Am J Med Genet. 1996 Mar 29;62(3):233-42.
47. Novel non-synonymous mutation in the transforming growth factor beta binding protein-like (TB) domain of the fibrillin-1 (FBN1) gene in a Han Chinese family with Marfan syndrome (MFS). Qin Y, etal., Neuro Endocrinol Lett. 2007 Oct;28(5):629-32.
48. GOA pipeline RGD automated data pipeline
49. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
50. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
51. Comprehensive gene review and curation RGD comprehensive gene curation
52. Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome. Rommel K, etal., Hum Mutat. 2005 Dec;26(6):529-39.
53. Genetic and immunologic features associated with scleroderma-like syndrome of TSK mice. Saito S, etal., Curr Rheumatol Rep. 1999 Oct;1(1):34-7.
54. Regulation of fibrillin-1 by biglycan and decorin is important for tissue preservation in the kidney during pressure-induced injury. Schaefer L, etal., Am J Pathol. 2004 Aug;165(2):383-96.
55. Decorin-mediated regulation of fibrillin-1 in the kidney involves the insulin-like growth factor-I receptor and Mammalian target of rapamycin. Schaefer L, etal., Am J Pathol. 2007 Jan;170(1):301-15.
56. Sequence variations in the 5' upstream regions of the FBN1 gene associated with Marfan syndrome. Singh KK, etal., Eur J Hum Genet. 2006 Jul;14(7):876-9. Epub 2006 Apr 12.
57. Elastic fiber proteins in the glomerular mesangium in vivo and in cell culture. Sterzel RB, etal., Kidney Int. 2000 Oct;58(4):1588-602.
58. [Novel mutation of fibrillin 1 gene cause ectopia lentis in a Chinese family]. Sui RF, etal., Zhonghua Yan Ke Za Zhi. 2004 Dec;40(12):828-31.
59. Autoantibodies to the extracellular matrix microfibrillar protein, fibrillin-1, in patients with scleroderma and other connective tissue diseases. Tan FK, etal., J Immunol. 1999 Jul 15;163(2):1066-72.
60. Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients. Uyeda T, etal., J Hum Genet. 2004;49(8):404-7. Epub 2004 Jun 23.
61. Molecular constituents of the extracellular matrix in rat liver mounting a hepatic progenitor cell response for tissue repair. Vestentoft PS, etal., Fibrogenesis Tissue Repair. 2013 Dec 20;6(1):21. doi: 10.1186/1755-1536-6-21.
62. C596G mutation in FBN1 causes Marfan syndrome with exotropia in a Chinese family. Wang F, etal., Mol Vis. 2015 Feb 23;21:194-200. eCollection 2015.
63. Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections. Wang WJ, etal., J Mol Med (Berl). 2013 Jan;91(1):37-47. doi: 10.1007/s00109-012-0931-y. Epub 2012 Jul 8.
64. A novel FBN1 missense mutation (p.C102Y) associated with ectopia lentis syndrome in a Chinese family. Zhai Y, etal., Int J Ophthalmol. 2015 Oct 18;8(5):855-9. doi: 10.3980/j.issn.2222-3959.2015.05.01. eCollection 2015.
65. Two novel mutations of fibrillin-1 gene correlate with different phenotypes of Marfan syndrome in Chinese families. Zhao F, etal., Mol Vis. 2013 Apr 5;19:751-8. Print 2013.
66. Ophthalmic findings in a family with early-onset isolated ectopia lentis and the p.Arg62Cys mutation of the fibrillin-1 gene (FBN1). Zhao JH, etal., Ophthalmic Genet. 2013 Mar-Jun;34(1-2):21-6. doi: 10.3109/13816810.2012.718029. Epub 2012 Sep 6.
Additional References at PubMed
PMID:1860873   PMID:3536967   PMID:7534784   PMID:7691719   PMID:8120105   PMID:8188302   PMID:10424889   PMID:11461921   PMID:12429738   PMID:12807887   PMID:15062093   PMID:15781745  
PMID:17099216   PMID:17158881   PMID:18448684   PMID:20551380   PMID:20855508   PMID:22355679   PMID:23376485   PMID:23658023   PMID:23979707   PMID:24006456   PMID:24035709   PMID:24039232  
PMID:25034023   PMID:25406291   PMID:26405179   PMID:27068509   PMID:27087445   PMID:27522124   PMID:27559042   PMID:31904090   PMID:33781005   PMID:35462799   PMID:36693798  


Comparative Map Data
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
mRatBN7.23112,554,257 - 112,750,835 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3112,554,925 - 112,750,889 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3116,414,669 - 116,616,220 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.03125,010,184 - 125,211,733 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.03122,670,545 - 122,872,088 (-)NCBIRnor_WKY
Rnor_6.03117,569,708 - 117,766,160 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3117,569,697 - 117,766,120 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03124,094,458 - 124,290,346 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43112,608,480 - 112,804,118 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13112,514,052 - 112,709,691 (-)NCBI
Celera3111,411,207 - 111,605,886 (-)NCBICelera
Cytogenetic Map3q36NCBI
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh381548,408,313 - 48,645,709 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1548,408,313 - 48,645,721 (-)EnsemblGRCh38hg38GRCh38
GRCh371548,700,510 - 48,937,906 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361546,487,797 - 46,725,210 (-)NCBINCBI36Build 36hg18NCBI36
Build 341546,489,478 - 46,724,391NCBI
Celera1525,592,970 - 25,831,601 (-)NCBICelera
Cytogenetic Map15q21.1NCBI
HuRef1525,532,899 - 25,770,042 (-)NCBIHuRef
CHM1_11548,818,485 - 49,055,993 (-)NCBICHM1_1
T2T-CHM13v2.01546,216,487 - 46,453,900 (-)NCBIT2T-CHM13v2.0
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
GRCm392125,142,514 - 125,348,417 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2125,142,514 - 125,349,913 (-)EnsemblGRCm39 Ensembl
GRCm382125,300,594 - 125,506,485 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2125,300,594 - 125,507,993 (-)EnsemblGRCm38mm10GRCm38
MGSCv372125,126,330 - 125,332,174 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362124,992,037 - 125,197,826 (-)NCBIMGSCv36mm8
Celera2126,545,438 - 126,751,399 (-)NCBICelera
Cytogenetic Map2F1NCBI
cM Map261.38NCBI
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
ChiLan1.0 EnsemblNW_0049554095,281,603 - 5,504,761 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554095,281,603 - 5,502,547 (+)NCBIChiLan1.0ChiLan1.0
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
NHGRI_mPanPan11541,831,805 - 42,066,801 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01527,358,780 - 27,593,539 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11545,680,688 - 45,918,111 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1545,682,450 - 45,918,111 (-)Ensemblpanpan1.1panPan2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
CanFam3.13014,640,973 - 14,864,151 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3014,640,973 - 14,864,151 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3014,562,604 - 14,785,910 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03014,774,842 - 14,998,080 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3014,774,842 - 14,998,080 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13014,697,727 - 14,920,887 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03014,812,844 - 15,036,221 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03014,925,119 - 15,148,304 (-)NCBIUU_Cfam_GSD_1.0
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
HiC_Itri_2NW_02440864092,898,887 - 93,121,188 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647110,746,996 - 10,969,231 (-)EnsemblSpeTri2.0
SpeTri2.0NW_00493647110,747,030 - 10,969,223 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
Sscrofa11.1 Ensembl1123,102,009 - 123,359,649 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11123,102,011 - 123,359,649 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21137,103,509 - 137,303,481 (+)NCBISscrofa10.2Sscrofa10.2susScr3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
ChlSab1.12634,637,916 - 34,877,499 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2634,638,838 - 34,879,217 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666048106,249,703 - 106,490,285 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
HetGla_female_1.0 EnsemblNW_00462473111,086,844 - 11,318,102 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473111,086,240 - 11,318,111 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2


Variants in Fbn1
1064 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:28
Count of miRNA genes:26
Interacting mature miRNAs:26
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1358885Bp251Blood pressure QTL 2513.8arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)314489145121056321Rat
1358888Bp264Blood pressure QTL 2644.43arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)314489145121056321Rat
737818Hcar12Hepatocarcinoma resistance QTL 122.6liver integrity trait (VT:0010547)volume of individual liver tumorous lesion (CMO:0001078)329463235118376539Rat
70216Cm14Cardiac mass QTL 142.1heart mass (VT:0007028)heart wet weight (CMO:0000069)331172320163586636Rat
1358362Srcrt2Stress Responsive Cort QTL 22.78blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)338192233133483320Rat
2301970Bw81Body weight QTL 815.19body mass (VT:0001259)body weight (CMO:0000012)341874578155617519Rat
2301971Cm71Cardiac mass QTL 714.63heart left ventricle mass (VT:0007031)heart left ventricle weight (CMO:0000776)341874578155617519Rat
1581503Cm58Cardiac mass QTL 582.70.05heart left ventricle mass (VT:0007031)heart left ventricle weight to body weight ratio (CMO:0000530)343827364121056321Rat
1559282Emca5Estrogen-induced mammary cancer QTL 53.9mammary gland integrity trait (VT:0010552)percentage of study population developing mammary tumors during a period of time (CMO:0000948)343827364169034231Rat
2292591Esta4Estrogen-induced thymic atrophy QTL 4thymus mass (VT:0004954)thymus wet weight (CMO:0000855)347233211147415807Rat
631665Bw8Body weight QTL 85.5body mass (VT:0001259)body weight (CMO:0000012)350437042119183768Rat
724523Tsu1Thymus enlargement suppressive QTL 13.84thymus mass (VT:0004954)thymus weight to body weight ratio (CMO:0000612)350437504115638231Rat
1582218Bw74Body weight QTL 743.90.0021body mass (VT:0001259)body weight (CMO:0000012)353184593115665732Rat
1582238Bw68Body weight QTL 683.20.0064body mass (VT:0001259)body weight (CMO:0000012)353184593115665732Rat
1582239Epfw1Epididymal fat weight QTL 14.50.0006epididymal fat pad mass (VT:0010421)epididymal fat pad weight to body weight ratio (CMO:0000658)353184593115665732Rat
1581568Rf53Renal function QTL 53urine total protein amount (VT:0000032)urine protein excretion rate to body weight ratio (CMO:0001099)356395968161299569Rat
8662816Vetf4Vascular elastic tissue fragility QTL 44renal artery integrity trait (VT:0010642)number of ruptures of the internal elastic lamina of the renal arteries (CMO:0002563)359242096157323038Rat
1300111Rf12Renal function QTL 123.78renal blood flow trait (VT:2000006)absolute change in renal blood flow rate (CMO:0001168)361017749121056321Rat
1582210Bw71Body weight QTL 713.30.0012body mass (VT:0001259)body weight (CMO:0000012)364655305115665732Rat
1582221Kidm30Kidney mass QTL 303.50.0008kidney mass (VT:0002707)both kidneys wet weight (CMO:0000085)364655305115665732Rat
12879848Bw181Body weght QTL 1810.015body mass (VT:0001259)body weight (CMO:0000012)370348525121056321Rat
2301414Kidm37Kidney mass QTL 370.001kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)370653097121056321Rat
1600376Arunc5Aerobic running capacity QTL 50.21exercise endurance trait (VT:0002332)maximum distance run on treadmill (CMO:0001406)373376539118376539Rat
1581546Pur13Proteinuria QTL 132.930.0335urine total protein amount (VT:0000032)urine protein excretion rate (CMO:0000759)378196190146592722Rat
2302273Gluco35Glucose level QTL 355.30.001blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)380800231114297550Rat
631649Bp123Blood pressure QTL 1233.2arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)389772419134772419Rat
8694437Bw167Body weight QTL 16722.460.001retroperitoneal fat pad mass (VT:0010430)retroperitoneal fat pad weight to body weight ratio (CMO:0000635)391797474136797474Rat
631841Niddm39Non-insulin dependent diabetes mellitus QTL 393.36blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)394856903159898684Rat
724532Cm17Cardiac mass QTL 172heart mass (VT:0007028)calculated heart weight (CMO:0000073)395735366140735366Rat
1582219Bw63Body weight QTL 633.80.001body mass (VT:0001259)body weight (CMO:0000012)396127817115665732Rat
1354611Despr2Despair related QTL 23.030.0028locomotor behavior trait (VT:0001392)amount of time spent in voluntary immobility (CMO:0001043)397084464142084464Rat
2293087Iddm27Insulin dependent diabetes mellitus QTL 272.68blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)397551417147415807Rat
2312659Slep7Serum leptin concentration QTL 70.001blood leptin amount (VT:0005667)serum leptin level (CMO:0000780)398535255168026850Rat
2312670Bw94Body weight QTL 940.01inguinal fat pad mass (VT:0010424)inguinal fat pad weight to body weight ratio (CMO:0001253)398535255168026850Rat
2312673Scl63Serum cholesterol level QTL 630.001blood cholesterol amount (VT:0000180)serum total cholesterol level (CMO:0000363)398535255168026850Rat
2302373Gluco39Glucose level QTL 395.01blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)398535386161695835Rat
1582216Bw65Body weight QTL 656.3body mass (VT:0001259)body weight (CMO:0000012)3102200529115665732Rat
619618Rf3Renal disease susceptibility QTL 36.50.001urine albumin amount (VT:0002871)urine albumin excretion rate to body weight ratio (CMO:0001270)3107693393152693393Rat
1331758Bp207Blood pressure QTL 2072.848arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)3112287552135181505Rat
1578754Stresp16Stress response QTL 1640.001blood renin amount (VT:0003349)plasma renin activity level (CMO:0000116)3112681431157681431Rat

Markers in Region
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.23112,554,840 - 112,555,022 (+)MAPPERmRatBN7.2
Rnor_6.03117,570,292 - 117,570,473NCBIRnor6.0
Rnor_5.03124,095,042 - 124,095,223UniSTSRnor5.0
RGSC_v3.43112,608,396 - 112,608,577UniSTSRGSC3.4
Celera3111,411,123 - 111,411,304UniSTS
RH 3.4 Map3983.4UniSTS
Cytogenetic Map3q36UniSTS
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.23112,731,833 - 112,731,983 (+)MAPPERmRatBN7.2
Rnor_6.03117,747,148 - 117,747,297NCBIRnor6.0
Rnor_5.03124,271,898 - 124,272,047UniSTSRnor5.0
RGSC_v3.43112,786,704 - 112,786,853UniSTSRGSC3.4
Celera3111,587,866 - 111,588,015UniSTS
RH 3.4 Map3983.9UniSTS
Cytogenetic Map3q36UniSTS
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.23112,657,097 - 112,657,236 (+)MAPPERmRatBN7.2
Rnor_6.03117,672,640 - 117,672,778NCBIRnor6.0
Rnor_5.03124,197,390 - 124,197,528UniSTSRnor5.0
RGSC_v3.43112,711,325 - 112,711,463UniSTSRGSC3.4
Celera3111,513,313 - 111,513,451UniSTS
Cytogenetic Map3q36UniSTS
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.23112,561,510 - 112,562,487 (+)MAPPERmRatBN7.2
Rnor_6.03117,576,962 - 117,577,938NCBIRnor6.0
Rnor_5.03124,101,712 - 124,102,688UniSTSRnor5.0
RGSC_v3.43112,615,078 - 112,616,054UniSTSRGSC3.4
Celera3111,417,793 - 111,418,769UniSTS
Cytogenetic Map3q36UniSTS


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system appendage
Medium 1 43 30 14 18 14 8 11 33 31 35 11 8
Low 2 27 27 1 27 41 4 6
Below cutoff


Reference Sequences
RefSeq Acc Id: ENSRNOT00000056022   ⟹   ENSRNOP00000052876
RefSeq Status:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl3112,554,925 - 112,750,889 (-)Ensembl
Rnor_6.0 Ensembl3117,569,697 - 117,766,120 (-)Ensembl
RefSeq Acc Id: ENSRNOT00000116157   ⟹   ENSRNOP00000089251
RefSeq Status:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl3112,554,925 - 112,750,889 (-)Ensembl
RefSeq Acc Id: ENSRNOT00000116206   ⟹   ENSRNOP00000082856
RefSeq Status:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl3112,554,925 - 112,750,889 (-)Ensembl
RefSeq Acc Id: NM_031825   ⟹   NP_114013
Rat AssemblyChrPosition (strand)Source
mRatBN7.23112,554,925 - 112,749,948 (-)NCBI
Rnor_6.03117,570,376 - 117,765,286 (-)NCBI
Rnor_5.03124,094,458 - 124,290,346 (-)NCBI
RGSC_v3.43112,608,480 - 112,804,118 (-)RGD
Celera3111,411,207 - 111,605,886 (-)RGD
RefSeq Acc Id: XM_006234935   ⟹   XP_006234997
RefSeq Status:
Rat AssemblyChrPosition (strand)Source
mRatBN7.23112,554,257 - 112,750,835 (-)NCBI
Rnor_6.03117,569,708 - 117,766,139 (-)NCBI
Rnor_5.03124,094,458 - 124,290,346 (-)NCBI
RefSeq Acc Id: XM_008762203   ⟹   XP_008760425
RefSeq Status:
Rat AssemblyChrPosition (strand)Source
mRatBN7.23112,555,217 - 112,750,819 (-)NCBI
Rnor_6.03117,569,708 - 117,766,139 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_114013   ⟸   NM_031825
- Peptide Label: precursor
- UniProtKB: G3V9M6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006234997   ⟸   XM_006234935
- Peptide Label: isoform X1
- UniProtKB: G3V9M6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_008760425   ⟸   XM_008762203
- Peptide Label: isoform X1
- UniProtKB: G3V9M6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSRNOP00000052876   ⟸   ENSRNOT00000056022
RefSeq Acc Id: ENSRNOP00000082856   ⟸   ENSRNOT00000116206
RefSeq Acc Id: ENSRNOP00000089251   ⟸   ENSRNOT00000116157
Protein Domains
EGF-like   TB


eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen

RGD ID:13692379
Promoter ID:EPDNEW_R2904
Type:initiation region
Description:fibrillin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Rat AssemblyChrPosition (strand)Source
Rnor_6.03117,766,125 - 117,766,185EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene RGD:620908 AgrOrtholog
BioCyc Gene G2FUF-48046 BioCyc
Ensembl Genes ENSRNOG00000007302 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Protein ENSRNOP00000052876 ENTREZGENE
  ENSRNOP00000052876.2 UniProtKB/TrEMBL
  ENSRNOP00000082856.1 UniProtKB/TrEMBL
  ENSRNOP00000089251.1 UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000056022 ENTREZGENE
  ENSRNOT00000056022.4 UniProtKB/TrEMBL
  ENSRNOT00000116157.1 UniProtKB/TrEMBL
  ENSRNOT00000116206.1 UniProtKB/TrEMBL
  Laminin UniProtKB/TrEMBL
InterPro cEGF UniProtKB/TrEMBL
  EGF-like_Ca-bd UniProtKB/TrEMBL
  EGF-type_Asp/Asn_hydroxyl_site UniProtKB/TrEMBL
  EGF_3 UniProtKB/TrEMBL
  EGF_Ca-bd_CS UniProtKB/TrEMBL
  EGF_dom UniProtKB/TrEMBL
  Fibrillin_U_N UniProtKB/TrEMBL
  Growth_fac_rcpt UniProtKB/TrEMBL
  TB_dom_sf UniProtKB/TrEMBL
  TFG_b-bd UniProtKB/TrEMBL
KEGG Report rno:83727 UniProtKB/TrEMBL
Pfam cEGF UniProtKB/TrEMBL
  EGF_3 UniProtKB/TrEMBL
  Fibrillin_U_N UniProtKB/TrEMBL
  FXa_inhibition UniProtKB/TrEMBL
  PF00683 UniProtKB/TrEMBL
PhenoGen Fbn1 PhenoGen
PIRSF Fibrillin UniProtKB/TrEMBL
  EGF_1 UniProtKB/TrEMBL
  EGF_2 UniProtKB/TrEMBL
  EGF_3 UniProtKB/TrEMBL
  PS51364 UniProtKB/TrEMBL
Superfamily-SCOP EGF/Laminin UniProtKB/TrEMBL
  Fibril-assoc UniProtKB/TrEMBL
  Grow_fac_recept UniProtKB/TrEMBL
UniProt A0A8I6A897_RAT UniProtKB/TrEMBL

Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2005-01-20 Fbn1  fibrillin 1    fibrillin-1  Name updated 1299863 APPROVED
2002-08-07 Fbn1  fibrillin-1      Symbol and Name status set to provisional 70820 PROVISIONAL

RGD Curation Notes
Note Type Note Reference
gene_domains contains calcium ion binding epidermal growth factor-like domain and is 88% homologous with the human gene 632672
gene_expression cDNA expressed in the kidney 632672