Fbln1 fibulin 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Fbln1provided by MGI
Official Full Name: fibulin 1provided by MGI
Primary source: MGI:MGI:95487
See related: Ensembl:ENSMUSG00000006369 AllianceGenome:MGI:95487
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Enables peptidase activator activity. Acts upstream of or within extracellular matrix organization. Located in basement membrane. Is expressed in several structures, including alimentary system; branchial arch; central nervous system; embryo mesenchyme; and heart. Orthologous to human FBLN1 (fibulin 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in bladder adult (RPKM 164.9), duodenum adult (RPKM 105.0) and 16 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 E2; 15 40.27 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (85090150..85170495)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (85205949..85286294)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A Bioinformatics-Based Study on Methylation Alterations of the FBLN1 Gene in Hippocampal Tissue of Alzheimer's Disease Model DKO and DTG Mice.
Title: A Bioinformatics-Based Study on Methylation Alterations of the FBLN1 Gene in Hippocampal Tissue of Alzheimer's Disease Model DKO and DTG Mice.
Fibulin 1, targeted by microRNA-24-3p, promotes cell proliferation and migration in vascular smooth muscle cells, contributing to the development of atherosclerosis in APOE[-/-] mice.
Title: Fibulin 1, targeted by microRNA-24-3p, promotes cell proliferation and migration in vascular smooth muscle cells, contributing to the development of atherosclerosis in APOE(-/-) mice.
Fibulin-1 Integrates Subendothelial Extracellular Matrices and Contributes to Anatomical Closure of the Ductus Arteriosus.
Title: Fibulin-1 Integrates Subendothelial Extracellular Matrices and Contributes to Anatomical Closure of the Ductus Arteriosus.
Fibulin-1c regulates transforming growth factor-beta activation in pulmonary tissue fibrosis.
Title: Fibulin-1c regulates transforming growth factor-β activation in pulmonary tissue fibrosis.
Fbln1c plays a key role in regulating airway remodelling and inflammation in chronic asthma.
Title: Airway remodelling and inflammation in asthma are dependent on the extracellular matrix protein fibulin-1c.
The FBLN1/FGF8 interaction may also be involved in the survival of neural crest cell population during development.
Title: Fibulin-1 Binds to Fibroblast Growth Factor 8 with High Affinity: EFFECTS ON EMBRYO SURVIVAL.
the findings indicate that Fbln1 normally suppresses proximal OFT EMT preventing proximal cushion hypercellularity and blood cell accumulation.
Title: Fibulin-1 suppresses endothelial to mesenchymal transition in the proximal outflow tract.
Fbln1 is a new positive modulator of the formation of membranous bone and endochondral bone in the skull
Title: Fibulin-1 is required for bone formation and Bmp-2-mediated induction of Osterix.
Extracellular calumenin regulates fibulin-1 to have crucial roles in ERK1/2 signaling and cell migration.
Title: Extracellular calumenin suppresses ERK1/2 signaling and cell migration by protecting fibulin-1 from MMP-13-mediated proteolysis.
fibulin-1 regulates versican-dependent events in ventricular morphogenesis by promoting ADAMTS1 cleavage of versican leading to suppression of trabecular cardiomyocyte proliferation mediated by the ErbB2-Map kinase pathway.
Title: Fibulin-1 is required during cardiac ventricular morphogenesis for versican cleavage, suppression of ErbB2 and Erk1/2 activation, and to attenuate trabecular cardiomyocyte proliferation.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Gene trapped (1) 1 citation
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D12S1329 (e-PCR)
- UniSTS:32813

NoName (e-PCR)
- UniSTS:548433

NoName (e-PCR)
- UniSTS:548434

Fbln1 (e-PCR), detects polymorphism
- UniSTS:143079

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables extracellular matrix structural constituent	ISO Inferred from Sequence Orthology more info
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables fibrinogen binding	IEA Inferred from Electronic Annotation more info
enables fibrinogen binding	ISO Inferred from Sequence Orthology more info
enables fibronectin binding	IEA Inferred from Electronic Annotation more info
enables fibronectin binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables integrin binding	IEA Inferred from Electronic Annotation more info
enables integrin binding	ISO Inferred from Sequence Orthology more info
enables peptidase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in blood coagulation, fibrin clot formation	IEA Inferred from Electronic Annotation more info
involved_in blood coagulation, fibrin clot formation	ISO Inferred from Sequence Orthology more info
involved_in embryo implantation	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within extracellular matrix organization	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of ERK1 and ERK2 cascade	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of ERK1 and ERK2 cascade	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell adhesion	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell motility	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell motility	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of stem cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of stem cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of substrate adhesion-dependent cell spreading	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of substrate adhesion-dependent cell spreading	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transformation of host cell by virus	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transforming growth factor beta production	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of fibroblast proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of substrate-dependent cell migration, cell attachment to substrate	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in basement membrane	IDA Inferred from Direct Assay more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in elastic fiber	IEA Inferred from Electronic Annotation more info
located_in elastic fiber	ISO Inferred from Sequence Orthology more info
located_in extracellular matrix	ISO Inferred from Sequence Orthology more info
located_in extracellular space	HDA more info	PubMed
located_in extracellular space	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: fibulin-1

Names: BM-90; BM-90/fibulin extracellular matrix glyroprotein; FIBL-1; basement-membrane protein 90

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001347088.1 → NP_001334017.1 fibulin-1 isoform 2 precursor

Status: VALIDATED

Source sequence(s)

AI845853, AK035388, AL583891, BQ572803

Consensus CDS

CCDS84186.1

UniProtKB/Swiss-Prot

Q08879

Related

ENSMUSP00000105058.4, ENSMUST00000109432.4
NM_010180.2 → NP_034310.2 fibulin-1 isoform 1 precursor

See identical proteins and their annotated locations for NP_034310.2

Status: VALIDATED

Source sequence(s)

AA017744, AK083573, AK085989, AK086451, AK159646

Consensus CDS

CCDS27719.1

UniProtKB/Swiss-Prot

Q08878, Q08879, Q8C3B1, Q91ZC9, Q922K8

UniProtKB/TrEMBL

B2CQD6, Q3TWK8

Related

ENSMUSP00000054583.8, ENSMUST00000057410.14

Conserved Domains (5) summary

smart00179
Location:401 → 442

EGF_CA; Calcium-binding EGF-like domain

cd00017
Location:30 → 85

ANATO; Anaphylatoxin homologous domain; C3a, C4a and C5a anaphylatoxins are protein fragments generated enzymatically in serum during activation of complement molecules C3, C4, and C5. They induce smooth muscle contraction. These fragments are homologous to ...

pfam07645
Location:218 → 261

EGF_CA; Calcium-binding EGF domain

pfam12662
Location:506 → 530

cEGF; Complement Clr-like EGF-like

cl00057
Location:481 → 524

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...