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Fbn1
Gene Detail
Symbol

Name
ID
Fbn1
fibrillin 1
MGI:95489
Synonyms
Fib-1
Feature Type
protein coding gene
Genetic Map
Chromosome 2
61.38 cM, cytoband F
Detailed Genetic Map ± 1 cM


Mapping data(23)
Sequence Map
Chr2:125300594-125507993 bp, - strand
From VEGA annotation of GRCm38

  207400 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:30958  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog

HCOP human homology predictions: FBN1
Protein SuperFamily: fibrillin
Gene Tree: Fbn1

Human
homologs
FBN1, fibrillin 1
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 2200
neXtProt AC: NX_P35555

Human Synonyms: ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFS1, OCTD, SGS, SSKS, WMS, WMS2

Human Chr (Location): 15q21.1; chr15:48408306-48645788 (-)  GRCh38.p2

Disease Associations: (7) Diseases Associated with Human FBN1

Mutations,
alleles, and
phenotypes
All mutations/alleles(16) : Spontaneous(1) Targeted(13) Transgenic(2)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Lethality among homozygotes for spontaneous and targeted mutations ranges from embryonic death to death around 4 months. Abnormalities include vascular defects, excess bone growth, connective tissue hyperplasia, and lung emphysema. Mice heterozygous for a knock-in allele exhibit scleroderma.
 
Human Diseases Modeled in Mice Using Fbn1 (4)    Mutations Annotated to Human Diseases (9)    Phenotype Images(10)
Interactions
Fbn1 interacts with 321 markers (Mir1a-1, Mir1a-2, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (27 annotations)
Process anatomical structure morphogenesis, heart development, ...
Component basement membrane, extracellular exosome, ...
Function calcium ion binding, extracellular matrix structural constituent, ...
External Resources: FuncBase
Expression
Literature Summary: (22 records)
Data Summary: Results (91)    Tissues (47)    Images (7)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 39
Northern blot 24
Western blot 8
RT-PCR 20
cDNA source data(34)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase fbn1    NEW 
Molecular
reagents
All nucleic(49) Genomic(5) cDNA(39) Primer pair(4) Other(1)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000015332 (Evidence)
Ensembl Gene Model ENSMUSG00000027204 (Evidence)
Entrez Gene 14118 (Evidence)
DFCI TC1575148, TC1589711, TC1717187, TC1729100
DoTS DT.101722245, DT.494681, DT.94347703, DT.97414262
NIA Mouse Gene Index U023291
Consensus CDS Project CCDS16676.1
International Mouse Phenotyping Consortium Status Fbn1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000015332 VEGA Gene Model | MGI Sequence Detail 207400 C57BL/6J ±  kb
transcript OTTMUST00000036337 VEGA | MGI Sequence Detail 11971 Not Applicable 
polypeptide OTTMUSP00000016326 VEGA | MGI Sequence Detail 2873 Not Applicable 

For the selected sequences
All sequences(49) RefSeq(7) UniProt(8)
Polymorphisms
RFLP(7) : SNPs within 2kb(1770 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002557 Chitin binding domain
InterPro IPR026823 Complement Clr-like EGF domain
InterPro IPR001881 EGF-like calcium-binding
InterPro IPR018097 EGF-like calcium-binding, conserved site
InterPro IPR013032 EGF-like, conserved site
InterPro IPR000152 EGF-type aspartate/asparagine hydroxylation site
InterPro IPR000742 Epidermal growth factor-like domain
InterPro IPR011398 Fibrillin
InterPro IPR009030 Insulin-like growth factor binding protein, N-terminal
InterPro IPR017878 TB domain
Protein Ontology PR:000007362 fibrillin-1
References
(Earliest) J:27521 Green MC, et al., Tight skin (Tsk). Mouse News Lett. 1973;48:34
(Latest) J:218158 Turner CJ, et al., alpha5 and alphav integrins cooperate to regulate vascular smooth muscle and neural crest functions in vivo. Development. 2015 Feb 15;142(4):797-808
All references(190)
Disease annotation references (20)
Other
accession IDs
MGD-MRK-15276, MGD-MRK-9717, MGI:2138999, MGI:98850

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/20/2015
MGI 5.22
The Jackson Laboratory