Human Gene FBN1 (ENST00000316623.10) Description and Page Index
  Description: Homo sapiens fibrillin 1 (FBN1), mRNA. (from RefSeq NM_000138)
RefSeq Summary (NM_000138): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Gencode Transcript: ENST00000316623.10
Gencode Gene: ENSG00000166147.14
Transcript (Including UTRs)
   Position: hg38 chr15:48,408,313-48,645,709 Size: 237,397 Total Exon Count: 66 Strand: -
Coding Region
   Position: hg38 chr15:48,410,990-48,644,769 Size: 233,780 Coding Exon Count: 65 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:48,408,313-48,645,709)mRNA (may differ from genome)Protein (2871 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: FBN1_HUMAN
DESCRIPTION: RecName: Full=Fibrillin-1; Flags: Precursor;
FUNCTION: Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-1- containing microfibrils provide long-term force bearing structural support. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively (By similarity).
SUBUNIT: Interacts with COL16A1. Interacts with integrin alpha- V/beta-3. Interacts with ADAMTSL4. Interacts with ADAMTS10; this interaction promotes microfibrils assembly. Interacts with THSD4; this interaction promotes fibril formation (By similarity).
INTERACTION: O95967:EFEMP2; NbExp=3; IntAct=EBI-2505934, EBI-743414; Q9UBX5:FBLN5; NbExp=3; IntAct=EBI-2505934, EBI-947897; P28300:LOX; NbExp=2; IntAct=EBI-2505934, EBI-3893481;
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
PTM: Forms intermolecular disulfide bonds either with other fibrillin-1 molecules or with other components of the microfibrils.
DISEASE: Defects in FBN1 are a cause of Marfan syndrome (MFS) [MIM:154700]. MFS is an autosomal dominant disorder that affects the skeletal, ocular, and cardiovascular systems. A wide variety of skeletal abnormalities occurs with MFS, including scoliosis, chest wall deformity, tall stature, abnormal joint mobility. Ectopia lentis occurs in up to about 80% of MFS patients and is almost always bilateral. The leading cause of premature death in MFS patients is progressive dilation of the aortic root and ascending aorta, causing aortic incompetence and dissection. Note=The majority of the more than 600 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.
DISEASE: Defects in FBN1 are a cause of ectopia lentis, 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.
DISEASE: Defects in FBN1 are the cause of 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.
DISEASE: Defects in FBN1 are a cause of Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212]. SGS is a very rare syndrome characterized by a marfanoid habitus, craniosynostosis, characteristic dysmorphic facial features, skeletal and cardiovascular abnormalities, mental retardation, developmental delay and learning disabilities.
DISEASE: Defects in FBN1 are a cause of overlap connective tissue disease (OCTD) [MIM:604308]. A 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.
DISEASE: Defects in FBN1 are a cause of stiff skin syndrome (SSKS) [MIM:184900]. It is 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.
DISEASE: Defects in FBN1 are the cause of geleophysic dysplasia type 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.
DISEASE: Defects in FBN1 are the cause of 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.
SIMILARITY: Belongs to the fibrillin family.
SIMILARITY: Contains 47 EGF-like domains.
SIMILARITY: Contains 9 TB (TGF-beta binding) domains.
SEQUENCE CAUTION: Sequence=CAA45118.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FBN1";

-  MalaCards Disease Associations
  MalaCards Gene Search: FBN1
Diseases sorted by gene-association score: stiff skin syndrome* (1689), marfan lipodystrophy syndrome* (1579), marfan syndrome* (1388), acromicric dysplasia* (1339), geleophysic dysplasia 2* (1330), ectopia lentis, familial* (1200), mass syndrome* (1025), weill-marchesani syndrome 2, dominant* (925), isolated ectopia lentis* (892), neonatal marfan syndrome* (779), geleophysic dysplasia* (490), scoliosis* (433), inguinal hernia* (404), myopia* (309), orthostatic intolerance* (301), marden-walker syndrome* (298), myopia 6* (283), thoracic aortic aneurysms and aortic dissections* (241), weill-marchesani syndrome* (230), ehlers-danlos syndrome, hypermobility type* (200), stroke, ischemic* (163), melanoma* (151), fbn1-related thoracic aortic aneurysms and aortic dissections* (100), fbn1-related weill-marchesani syndrome* (100), aortic disease (34), shprintzen-goldberg syndrome* (31), connective tissue disease (26), lens subluxation (21), bullous keratopathy (21), mitral valve disease (18), systemic scleroderma (18), tracheal stenosis (17), diaphragmatic eventration (17), tricuspid valve prolapse (16), aortic aneurysm, familial thoracic 1 (15), scleredema adultorum (15), exotropia (15), mitral valve insufficiency (14), pseudoxanthoma elasticum-like papillary dermal elastolysis (14), lipodystrophy (13), familial thoracic aortic aneurysm and dissection (13), crest syndrome (13), late-onset focal dermal elastosis (13), pneumothorax (13), de barsy syndrome (13), supravalvar aortic stenosis (12), idiopathic scoliosis (12), exfoliation syndrome (12), loeys-dietz syndrome (11), pseudoxanthoma elasticum (11), sorsby fundus dystrophy (11), familial abdominal aortic aneurysm (10), aortic aneurysm (10), chronic actinic dermatitis (10), homocystinuria (10), mid-dermal elastolysis (9), mucinoses (8), aortic valve disease 2 (8), aortic coarctation (8), epidermolysis bullosa dystrophica (8), abdominal aortic aneurysm (7), homocysteinemia (6), dental pulp calcification (6), nontuberculous mycobacterial lung disease (6), phacogenic glaucoma (6), tricuspid valve insufficiency (6), tricuspid valve disease (6), aortic valve insufficiency (5), diffuse cutaneous systemic sclerosis (5), keratopathy (5), aortic valve disease 1 (5), tricuspid valve stenosis (5), char syndrome (5), ullrich congenital muscular dystrophy 1 (4), chandler syndrome (4), popliteal pterygium syndrome 1 (4), fundus dystrophy (3), congenital diaphragmatic hernia (3), autosomal dominant polycystic kidney disease (2), heart disease (2), tetralogy of fallot (2), autosomal genetic disease (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 95.41 RPKM in Cells - Cultured fibroblasts
Total median expression: 471.52 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -171.10316-0.541 Picture PostScript Text
3' UTR -615.902677-0.230 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000742 - EG-like_dom
IPR001881 - EGF-like_Ca-bd
IPR013032 - EGF-like_CS
IPR000152 - EGF-type_Asp/Asn_hydroxyl_site
IPR018097 - EGF_Ca-bd_CS
IPR011398 - FBN
IPR009030 - Growth_fac_rcpt
IPR017878 - TB_dom

Pfam Domains:
PF07645 - Calcium-binding EGF domain
PF00683 - TB domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1APJ
- NMR MuPIT

1EMN
- NMR MuPIT

1EMO
- NMR MuPIT
To conserve bandwidth, only the images from the first 3 structures are shown.
1LMJ - NMR MuPIT 1UZJ - X-ray MuPIT 1UZK - X-ray MuPIT
1UZP - X-ray MuPIT 1UZQ - X-ray MuPIT 2W86 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P35555
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005178 integrin binding
GO:0005179 hormone activity
GO:0005201 extracellular matrix structural constituent
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0008201 heparin binding
GO:0030023 extracellular matrix constituent conferring elasticity
GO:0042802 identical protein binding
GO:0044877 macromolecular complex binding

Biological Process:
GO:0001501 skeletal system development
GO:0001656 metanephros development
GO:0001822 kidney development
GO:0006006 glucose metabolic process
GO:0007507 heart development
GO:0010469 regulation of receptor activity
GO:0010737 protein kinase A signaling
GO:0030198 extracellular matrix organization
GO:0033627 cell adhesion mediated by integrin
GO:0034199 activation of protein kinase A activity
GO:0035582 sequestering of BMP in extracellular matrix
GO:0035583 sequestering of TGFbeta in extracellular matrix
GO:0042593 glucose homeostasis
GO:0043010 camera-type eye development
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
GO:0045671 negative regulation of osteoclast differentiation
GO:0048048 embryonic eye morphogenesis
GO:0048050 post-embryonic eye morphogenesis
GO:0071560 cellular response to transforming growth factor beta stimulus
GO:0090287 regulation of cellular response to growth factor stimulus
GO:1990314 cellular response to insulin-like growth factor stimulus
GO:2001205 negative regulation of osteoclast development

Cellular Component:
GO:0001527 microfibril
GO:0005576 extracellular region
GO:0005604 basement membrane
GO:0005615 extracellular space
GO:0005622 intracellular
GO:0005788 endoplasmic reticulum lumen
GO:0031012 extracellular matrix


-  Descriptions from all associated GenBank mRNAs
  LF205871 - JP 2014500723-A/13374: Polycomb-Associated Non-Coding RNAs.
MA441448 - JP 2018138019-A/13374: Polycomb-Associated Non-Coding RNAs.
X63556 - H.sapiens mRNA for fibrillin.
L13923 - Homo sapiens fibrillin mRNA, complete cds.
BC146854 - Homo sapiens fibrillin 1, mRNA (cDNA clone MGC:181957 IMAGE:9056782), complete cds.
GQ891350 - Homo sapiens clone HEL-S-123e epididymis secretory sperm binding protein mRNA, complete cds.
AK304737 - Homo sapiens cDNA FLJ61597 partial cds, highly similar to Fibrillin-1 precursor.
JD552551 - Sequence 533575 from Patent EP1572962.
AB208840 - Homo sapiens mRNA for fibrillin 1 variant protein.
JD382579 - Sequence 363603 from Patent EP1572962.
JD515913 - Sequence 496937 from Patent EP1572962.
LF349176 - JP 2014500723-A/156679: Polycomb-Associated Non-Coding RNAs.
MA584753 - JP 2018138019-A/156679: Polycomb-Associated Non-Coding RNAs.
JD348948 - Sequence 329972 from Patent EP1572962.
JD159190 - Sequence 140214 from Patent EP1572962.
AK309616 - Homo sapiens cDNA, FLJ99657.
LF349177 - JP 2014500723-A/156680: Polycomb-Associated Non-Coding RNAs.
MA584754 - JP 2018138019-A/156680: Polycomb-Associated Non-Coding RNAs.
JD363075 - Sequence 344099 from Patent EP1572962.
JD468042 - Sequence 449066 from Patent EP1572962.
LF349178 - JP 2014500723-A/156681: Polycomb-Associated Non-Coding RNAs.
MA584755 - JP 2018138019-A/156681: Polycomb-Associated Non-Coding RNAs.
LF349179 - JP 2014500723-A/156682: Polycomb-Associated Non-Coding RNAs.
MA584756 - JP 2018138019-A/156682: Polycomb-Associated Non-Coding RNAs.
LF349180 - JP 2014500723-A/156683: Polycomb-Associated Non-Coding RNAs.
MA584757 - JP 2018138019-A/156683: Polycomb-Associated Non-Coding RNAs.
LF349181 - JP 2014500723-A/156684: Polycomb-Associated Non-Coding RNAs.
MA584758 - JP 2018138019-A/156684: Polycomb-Associated Non-Coding RNAs.
LF349183 - JP 2014500723-A/156686: Polycomb-Associated Non-Coding RNAs.
MA584760 - JP 2018138019-A/156686: Polycomb-Associated Non-Coding RNAs.
LF349184 - JP 2014500723-A/156687: Polycomb-Associated Non-Coding RNAs.
MA584761 - JP 2018138019-A/156687: Polycomb-Associated Non-Coding RNAs.
LF349185 - JP 2014500723-A/156688: Polycomb-Associated Non-Coding RNAs.
MA584762 - JP 2018138019-A/156688: Polycomb-Associated Non-Coding RNAs.
LF349187 - JP 2014500723-A/156690: Polycomb-Associated Non-Coding RNAs.
MA584764 - JP 2018138019-A/156690: Polycomb-Associated Non-Coding RNAs.
LF349188 - JP 2014500723-A/156691: Polycomb-Associated Non-Coding RNAs.
MA584765 - JP 2018138019-A/156691: Polycomb-Associated Non-Coding RNAs.
LF349190 - JP 2014500723-A/156693: Polycomb-Associated Non-Coding RNAs.
MA584767 - JP 2018138019-A/156693: Polycomb-Associated Non-Coding RNAs.
LF349191 - JP 2014500723-A/156694: Polycomb-Associated Non-Coding RNAs.
MA584768 - JP 2018138019-A/156694: Polycomb-Associated Non-Coding RNAs.
LF205872 - JP 2014500723-A/13375: Polycomb-Associated Non-Coding RNAs.
MA441449 - JP 2018138019-A/13375: Polycomb-Associated Non-Coding RNAs.
LF349192 - JP 2014500723-A/156695: Polycomb-Associated Non-Coding RNAs.
MA584769 - JP 2018138019-A/156695: Polycomb-Associated Non-Coding RNAs.
LF349193 - JP 2014500723-A/156696: Polycomb-Associated Non-Coding RNAs.
MA584770 - JP 2018138019-A/156696: Polycomb-Associated Non-Coding RNAs.
LF349194 - JP 2014500723-A/156697: Polycomb-Associated Non-Coding RNAs.
MA584771 - JP 2018138019-A/156697: Polycomb-Associated Non-Coding RNAs.
LF349196 - JP 2014500723-A/156699: Polycomb-Associated Non-Coding RNAs.
MA584773 - JP 2018138019-A/156699: Polycomb-Associated Non-Coding RNAs.
LF349197 - JP 2014500723-A/156700: Polycomb-Associated Non-Coding RNAs.
MA584774 - JP 2018138019-A/156700: Polycomb-Associated Non-Coding RNAs.
LF349198 - JP 2014500723-A/156701: Polycomb-Associated Non-Coding RNAs.
MA584775 - JP 2018138019-A/156701: Polycomb-Associated Non-Coding RNAs.
LF349199 - JP 2014500723-A/156702: Polycomb-Associated Non-Coding RNAs.
MA584776 - JP 2018138019-A/156702: Polycomb-Associated Non-Coding RNAs.
LF349200 - JP 2014500723-A/156703: Polycomb-Associated Non-Coding RNAs.
MA584777 - JP 2018138019-A/156703: Polycomb-Associated Non-Coding RNAs.
LF349203 - JP 2014500723-A/156706: Polycomb-Associated Non-Coding RNAs.
MA584780 - JP 2018138019-A/156706: Polycomb-Associated Non-Coding RNAs.
LF349204 - JP 2014500723-A/156707: Polycomb-Associated Non-Coding RNAs.
MA584781 - JP 2018138019-A/156707: Polycomb-Associated Non-Coding RNAs.
LF349205 - JP 2014500723-A/156708: Polycomb-Associated Non-Coding RNAs.
MA584782 - JP 2018138019-A/156708: Polycomb-Associated Non-Coding RNAs.
LF349206 - JP 2014500723-A/156709: Polycomb-Associated Non-Coding RNAs.
MA584783 - JP 2018138019-A/156709: Polycomb-Associated Non-Coding RNAs.
LF349207 - JP 2014500723-A/156710: Polycomb-Associated Non-Coding RNAs.
MA584784 - JP 2018138019-A/156710: Polycomb-Associated Non-Coding RNAs.
LF349208 - JP 2014500723-A/156711: Polycomb-Associated Non-Coding RNAs.
MA584785 - JP 2018138019-A/156711: Polycomb-Associated Non-Coding RNAs.
LF349210 - JP 2014500723-A/156713: Polycomb-Associated Non-Coding RNAs.
MA584787 - JP 2018138019-A/156713: Polycomb-Associated Non-Coding RNAs.
LF349211 - JP 2014500723-A/156714: Polycomb-Associated Non-Coding RNAs.
MA584788 - JP 2018138019-A/156714: Polycomb-Associated Non-Coding RNAs.
LF349212 - JP 2014500723-A/156715: Polycomb-Associated Non-Coding RNAs.
MA584789 - JP 2018138019-A/156715: Polycomb-Associated Non-Coding RNAs.
LF349214 - JP 2014500723-A/156717: Polycomb-Associated Non-Coding RNAs.
MA584791 - JP 2018138019-A/156717: Polycomb-Associated Non-Coding RNAs.
LF349215 - JP 2014500723-A/156718: Polycomb-Associated Non-Coding RNAs.
MA584792 - JP 2018138019-A/156718: Polycomb-Associated Non-Coding RNAs.
LF349216 - JP 2014500723-A/156719: Polycomb-Associated Non-Coding RNAs.
MA584793 - JP 2018138019-A/156719: Polycomb-Associated Non-Coding RNAs.
LF349217 - JP 2014500723-A/156720: Polycomb-Associated Non-Coding RNAs.
MA584794 - JP 2018138019-A/156720: Polycomb-Associated Non-Coding RNAs.
LF349218 - JP 2014500723-A/156721: Polycomb-Associated Non-Coding RNAs.
MA584795 - JP 2018138019-A/156721: Polycomb-Associated Non-Coding RNAs.
LF349219 - JP 2014500723-A/156722: Polycomb-Associated Non-Coding RNAs.
MA584796 - JP 2018138019-A/156722: Polycomb-Associated Non-Coding RNAs.
X62008 - Homo sapiens partial mRNA for fibrillin 15.
LF349220 - JP 2014500723-A/156723: Polycomb-Associated Non-Coding RNAs.
MA584797 - JP 2018138019-A/156723: Polycomb-Associated Non-Coding RNAs.
LF349221 - JP 2014500723-A/156724: Polycomb-Associated Non-Coding RNAs.
MA584798 - JP 2018138019-A/156724: Polycomb-Associated Non-Coding RNAs.
LF349222 - JP 2014500723-A/156725: Polycomb-Associated Non-Coding RNAs.
MA584799 - JP 2018138019-A/156725: Polycomb-Associated Non-Coding RNAs.
LF349223 - JP 2014500723-A/156726: Polycomb-Associated Non-Coding RNAs.
MA584800 - JP 2018138019-A/156726: Polycomb-Associated Non-Coding RNAs.
LF349224 - JP 2014500723-A/156727: Polycomb-Associated Non-Coding RNAs.
MA584801 - JP 2018138019-A/156727: Polycomb-Associated Non-Coding RNAs.
LF349225 - JP 2014500723-A/156728: Polycomb-Associated Non-Coding RNAs.
MA584802 - JP 2018138019-A/156728: Polycomb-Associated Non-Coding RNAs.
LF349226 - JP 2014500723-A/156729: Polycomb-Associated Non-Coding RNAs.
MA584803 - JP 2018138019-A/156729: Polycomb-Associated Non-Coding RNAs.
LF349227 - JP 2014500723-A/156730: Polycomb-Associated Non-Coding RNAs.
MA584804 - JP 2018138019-A/156730: Polycomb-Associated Non-Coding RNAs.
LF349228 - JP 2014500723-A/156731: Polycomb-Associated Non-Coding RNAs.
MA584805 - JP 2018138019-A/156731: Polycomb-Associated Non-Coding RNAs.
LF349229 - JP 2014500723-A/156732: Polycomb-Associated Non-Coding RNAs.
MA584806 - JP 2018138019-A/156732: Polycomb-Associated Non-Coding RNAs.
LF349230 - JP 2014500723-A/156733: Polycomb-Associated Non-Coding RNAs.
MA584807 - JP 2018138019-A/156733: Polycomb-Associated Non-Coding RNAs.
LF349231 - JP 2014500723-A/156734: Polycomb-Associated Non-Coding RNAs.
MA584808 - JP 2018138019-A/156734: Polycomb-Associated Non-Coding RNAs.
LF349232 - JP 2014500723-A/156735: Polycomb-Associated Non-Coding RNAs.
MA584809 - JP 2018138019-A/156735: Polycomb-Associated Non-Coding RNAs.
MN413941 - Homo sapiens fibrillin 1 mRNA, partial cds.
MN413940 - Homo sapiens mutant fibrillin 1 mRNA sequence.
LF349233 - JP 2014500723-A/156736: Polycomb-Associated Non-Coding RNAs.
MA584810 - JP 2018138019-A/156736: Polycomb-Associated Non-Coding RNAs.
LF349234 - JP 2014500723-A/156737: Polycomb-Associated Non-Coding RNAs.
MA584811 - JP 2018138019-A/156737: Polycomb-Associated Non-Coding RNAs.
LF349236 - JP 2014500723-A/156739: Polycomb-Associated Non-Coding RNAs.
MA584813 - JP 2018138019-A/156739: Polycomb-Associated Non-Coding RNAs.
LF349237 - JP 2014500723-A/156740: Polycomb-Associated Non-Coding RNAs.
MA584814 - JP 2018138019-A/156740: Polycomb-Associated Non-Coding RNAs.
LF349239 - JP 2014500723-A/156742: Polycomb-Associated Non-Coding RNAs.
MA584816 - JP 2018138019-A/156742: Polycomb-Associated Non-Coding RNAs.
LF349240 - JP 2014500723-A/156743: Polycomb-Associated Non-Coding RNAs.
MA584817 - JP 2018138019-A/156743: Polycomb-Associated Non-Coding RNAs.
LF349241 - JP 2014500723-A/156744: Polycomb-Associated Non-Coding RNAs.
MA584818 - JP 2018138019-A/156744: Polycomb-Associated Non-Coding RNAs.
LF349243 - JP 2014500723-A/156746: Polycomb-Associated Non-Coding RNAs.
MA584820 - JP 2018138019-A/156746: Polycomb-Associated Non-Coding RNAs.
LF349244 - JP 2014500723-A/156747: Polycomb-Associated Non-Coding RNAs.
MA584821 - JP 2018138019-A/156747: Polycomb-Associated Non-Coding RNAs.
LF349245 - JP 2014500723-A/156748: Polycomb-Associated Non-Coding RNAs.
MA584822 - JP 2018138019-A/156748: Polycomb-Associated Non-Coding RNAs.
LF349248 - JP 2014500723-A/156751: Polycomb-Associated Non-Coding RNAs.
MA584825 - JP 2018138019-A/156751: Polycomb-Associated Non-Coding RNAs.
LF349250 - JP 2014500723-A/156753: Polycomb-Associated Non-Coding RNAs.
MA584827 - JP 2018138019-A/156753: Polycomb-Associated Non-Coding RNAs.
LF349259 - JP 2014500723-A/156762: Polycomb-Associated Non-Coding RNAs.
MA584836 - JP 2018138019-A/156762: Polycomb-Associated Non-Coding RNAs.
LF349262 - JP 2014500723-A/156765: Polycomb-Associated Non-Coding RNAs.
MA584839 - JP 2018138019-A/156765: Polycomb-Associated Non-Coding RNAs.
BC094721 - Homo sapiens fibrillin 1, mRNA (cDNA clone IMAGE:30528010), with apparent retained intron.
LF211843 - JP 2014500723-A/19346: Polycomb-Associated Non-Coding RNAs.
MA447420 - JP 2018138019-A/19346: Polycomb-Associated Non-Coding RNAs.
LF212919 - JP 2014500723-A/20422: Polycomb-Associated Non-Coding RNAs.
MA448496 - JP 2018138019-A/20422: Polycomb-Associated Non-Coding RNAs.
JD443187 - Sequence 424211 from Patent EP1572962.
LF349265 - JP 2014500723-A/156768: Polycomb-Associated Non-Coding RNAs.
MA584842 - JP 2018138019-A/156768: Polycomb-Associated Non-Coding RNAs.
JD139981 - Sequence 121005 from Patent EP1572962.
JD057862 - Sequence 38886 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P35555 (Reactome details) participates in the following event(s):

R-HSA-265423 Interaction of integrin alphaVbeta3 with Fibrillin
R-HSA-2129357 Fibrillin C-terminal processing
R-HSA-8952289 FAM20C phosphorylates FAM20C substrates
R-HSA-216083 Integrin cell surface interactions
R-HSA-1566948 Elastic fibre formation
R-HSA-1474244 Extracellular matrix organization
R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275 Post-translational protein phosphorylation
R-HSA-392499 Metabolism of proteins
R-HSA-597592 Post-translational protein modification

-  Other Names for This Gene
  Alternate Gene Symbols: B2RUU0, D2JYH6, ENST00000316623.1, ENST00000316623.2, ENST00000316623.3, ENST00000316623.4, ENST00000316623.5, ENST00000316623.6, ENST00000316623.7, ENST00000316623.8, ENST00000316623.9, FBN, FBN1_HUMAN, NM_000138, P35555, Q15972, Q75N87, uc001zwx.1, uc001zwx.2, uc001zwx.3, uc001zwx.4
UCSC ID: ENST00000316623.10
RefSeq Accession: NM_000138
Protein: P35555 (aka FBN1_HUMAN)
CCDS: CCDS32232.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene FBN1:
taa (Heritable Thoracic Aortic Disease Overview)
marfan (Marfan Syndrome)
geleophys-dysp (Geleophysic Dysplasia)
weill-ms (Weill-Marchesani Syndrome)
cdh-ov (Congenital Diaphragmatic Hernia Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.