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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

Protein SuperFamily: fibulin-1
Gene Tree: Fbln1

Human
homologs
Human Homolog FBLN1, fibulin 1
NCBI Gene ID 2192
neXtProt AC  NX_P23142
Human Synonyms  FBLN, FIBL1
Human Chr (Location)  22q13.31; chr22:45502839-45601134 (+)  GRCh38
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 )
 
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.
 
Interactions
Fbln1 interacts with 212 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (12 annotations)
Process extracellular matrix organization, positive regulation of peptidase activity
Component basement membrane, extracellular matrix, ...
Function calcium ion binding, peptidase activator activity, ...
External Resources: FuncBase
Expression
Literature Summary: (18 records)
Data Summary: Results (220)    Tissues (84)    Images (50)
Theiler Stages: 15, 17, 20, 21, 22, 23, 24, 26, 28
Assay TypeResults
Immunohistochemistry 15
RNA in situ 185
Northern blot 12
RT-PCR 8
cDNA source data(107)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(113) cDNA(109) Primer pair(3) Other(1)
Microarray probesets(7)
Other database
links
VEGA Gene ModelOTTMUSG00000030663 (Evidence)
Ensembl Gene ModelENSMUSG00000006369 (Evidence)
Entrez Gene14114 (Evidence)
UniGene297992
DFCITC1575750, TC1585357, TC1608266
DoTSDT.101737130, DT.91584737, DT.94201989
NIA Mouse Gene IndexU016518
Consensus CDS ProjectCCDS27719.1
International Mouse Knockout Project StatusFbln1
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(52) 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 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 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:179734 Cooley MA, et al., Fibulin-1 is required during cardiac ventricular morphogenesis for versican cleavage, suppression of ErbB2 and Erk1/2 activation, and to attenuate trabecular cardiomyocyte proliferation. Dev Dyn. 2012 Feb;241(2):303-14
All references(53)
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
Funding Information
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last database update
08/19/2014
MGI 5.19
The Jackson Laboratory