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; chr22:45898719-45997014 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human FBLN1

Alleles and phenotypes

All alleles(21) : Targeted(1) Gene trapped(20)
 

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.

 

Gene Ontology (GO) classifications

All GO classifications: (11 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 (204)    Tissues (74)    Images (42)
Theiler Stages: 17, 20, 21, 22, 23, 24, 26, 28

Assay Type	Results
Immunohistochemistry	7
RNA in situ	185
Northern blot	12

cDNA source data(107)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(111) cDNA(109) Primer pair(1) 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 Knockout Project Status	Fbln1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000030663	VEGA Gene Model | MGI Sequence Detail	80587	C57BL/6J
transcript	OTTMUST00000075912	VEGA | MGI Sequence Detail	3659	Not Applicable
polypeptide	OTTMUSP00000039873	VEGA | MGI Sequence Detail	705	Not Applicable

All sequences(49) RefSeq(2) UniProt(4)

Polymorphisms

SNPs(525 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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
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