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Fbln1
Gene Detail
Symbol

Name
ID
Fbln1
fibulin 1
MGI:95487
Feature Type
protein coding gene
Genetic Map
Chromosome 15
40.27 cM, cytoband E-F
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr15:85205949-85286535 bp, + strand
From VEGA annotation of GRCm38

  80587 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:21295  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

HCOP human homology predictions: FBLN1
Protein SuperFamily: fibulin-1
Gene Tree: Fbln1

Human
homologs
FBLN1, fibulin 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 2192
neXtProt AC: NX_P23142

Human Synonyms: FBLN, FIBL1

Human Chr (Location): 22q13.31; chr22:45502839-45601134 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human FBLN1

Mutations,
alleles, and
phenotypes
All mutations/alleles(22) : Gene trapped(20) Radiation induced(1) Targeted(1)
Genomic Mutations involving Fbln1 (1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygous for disruption of this gene develop problems with spontaneous bleeding as embryos. Most die within the first two days of life. Those that survive this period develop normally and eventually recover from their early developmental abnormalities.
 
Phenotype Images(2)
Interactions
Fbln1 interacts with 212 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (20 records)
Data Summary: Results (220)    Tissues (84)    Images (50)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 15
RNA in situ 185
Northern blot 12
RT-PCR 8
cDNA source data(107)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase LOC100488229 ; ZFIN fbln1    NEW 
Molecular
reagents
All nucleic(113) cDNA(109) Primer pair(3) Other(1)
Microarray probesets(7)
Other database
links
VEGA Gene Model OTTMUSG00000030663 (Evidence)
Ensembl Gene Model ENSMUSG00000006369 (Evidence)
Entrez Gene 14114 (Evidence)
UniGene 297992
DFCI TC1575750, TC1585357, TC1608266
DoTS DT.101737130, DT.91584737, DT.94201989
NIA Mouse Gene Index U016518
Consensus CDS Project CCDS27719.1
International Mouse Phenotyping Consortium Status Fbln1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000030663 VEGA Gene Model | MGI Sequence Detail 80587 C57BL/6J ±  kb
transcript OTTMUST00000075912 VEGA | MGI Sequence Detail 3659 Not Applicable 
polypeptide OTTMUSP00000039873 VEGA | MGI Sequence Detail 705 Not Applicable 

For the selected sequences
All sequences(54) RefSeq(4) UniProt(4)
Polymorphisms
SNPs within 2kb(805 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000020 Anaphylatoxin/fibulin
InterPro IPR026823 Complement Clr-like EGF domain
InterPro IPR018097 EGF-like calcium-binding, conserved site
InterPro IPR001881 EGF-like calcium-binding domain
InterPro IPR013032 EGF-like, conserved site
InterPro IPR000742 EGF-like domain
InterPro IPR000152 EGF-type aspartate/asparagine hydroxylation site
InterPro IPR017048 Fibulin-1
InterPro IPR009030 Insulin-like growth factor binding protein, N-terminal
Protein Ontology PR:000007358 fibulin-1
References
(Earliest) J:14176 Pan TC, et al., Sequence of extracellular mouse protein BM-90/fibulin and its calcium-dependent binding to other basement-membrane ligands. Eur J Biochem. 1993 Aug 1;215(3):733-40
(Latest) J:217668 Harikrishnan K, et al., Fibulin-1 suppresses endothelial to mesenchymal transition in the proximal outflow tract. Mech Dev. 2015 Jan 6;
All references(54)
Other
accession IDs
MGD-MRK-9715

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory