Fbn1 fibrillin 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Fbn1provided by MGI
Official Full Name: fibrillin 1provided by MGI
Primary source: MGI:MGI:95489
See related: Ensembl:ENSMUSG00000027204 AllianceGenome:MGI:95489
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Tsk; Fib-1; B430209H23
Summary: This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis. Homozygous knockout mice for this gene exhibit impaired aortic development and early postnatal death, which was attributed to a deficiency in the fibrillin-1 protein. Mice with a hypomorphic allele of this gene exhibit impaired glucose homeostasis, likely due to a reduction in serum asprosin levels. [provided by RefSeq, Apr 2016]
Expression: Broad expression in subcutaneous fat pad adult (RPKM 25.5), mammary gland adult (RPKM 18.3) and 19 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 F1; 2 61.38 cM

Exon count:: 67

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (125142514..125348417, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (125300594..125506485, complement)

Chromosome 2 - NC_000068.8 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?

In vivo phenotypic vascular dysfunction extends beyond the aorta in a mouse model for fibrillin-1 (Fbn1) mutation.
Title: In vivo phenotypic vascular dysfunction extends beyond the aorta in a mouse model for fibrillin-1 (Fbn1) mutation.
Aqueous humor TGFbeta and fibrillin-1 in Tsk mice reveal clues to POAG pathogenesis.
Title: Aqueous humor TGFβ and fibrillin-1 in Tsk mice reveal clues to POAG pathogenesis.
Fibrillin-1 regulates endothelial sprouting during angiogenesis.
Title: Fibrillin-1 regulates endothelial sprouting during angiogenesis.
Asprosin aggravates vascular endothelial dysfunction via disturbing mitochondrial dynamics in obesity models.
Title: Asprosin aggravates vascular endothelial dysfunction via disturbing mitochondrial dynamics in obesity models.
Exosomal microRNA-133b-3p from bone marrow mesenchymal stem cells inhibits angiogenesis and oxidative stress via FBN1 repression in diabetic retinopathy.
Title: Exosomal microRNA-133b-3p from bone marrow mesenchymal stem cells inhibits angiogenesis and oxidative stress via FBN1 repression in diabetic retinopathy.
The critical role of the TB5 domain of fibrillin-1 in endochondral ossification.
Title: The critical role of the TB5 domain of fibrillin-1 in endochondral ossification.
Fibrillin-1 Regulates Arteriole Integrity in the Retina.
Title: Fibrillin-1 Regulates Arteriole Integrity in the Retina.
Fibrillin-1 deficiency in the outer perichondrium causes longitudinal bone overgrowth in mice with Marfan syndrome.
Title: Fibrillin-1 deficiency in the outer perichondrium causes longitudinal bone overgrowth in mice with Marfan syndrome.
Male Marfan mice are predisposed to high-fat diet-induced obesity, diabetes, and fatty liver.
Title: Male Marfan mice are predisposed to high-fat diet-induced obesity, diabetes, and fatty liver.
Fibrillin-1 mutant mouse captures defining features of human primary open glaucoma including anomalous aqueous humor TGF beta-2.
Title: Fibrillin-1 mutant mouse captures defining features of human primary open glaucoma including anomalous aqueous humor TGF beta-2.

Submit: New GeneRIF Correction See all GeneRIFs (72)

Variation

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Alleles

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

Spontaneous (1)
Targeted (14) 1 citation
Endonuclease-mediated (10) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

U22493 (e-PCR)
- UniSTS:125699

GDB:455155 (e-PCR)
- UniSTS:157454

Fbn1 (e-PCR), detects polymorphism
- UniSTS:472851

MARC_10113-10114:1001521257:1 (e-PCR)
- UniSTS:267044

GDB:636540 (e-PCR)
- UniSTS:158547

D2Mit459 (e-PCR), detects polymorphism
- UniSTS:129372

Fbn1 (e-PCR), detects polymorphism
- UniSTS:531311

AI536462 (e-PCR)
- UniSTS:185494

Fbn1 (e-PCR), detects polymorphism
- UniSTS:463014

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables extracellular matrix structural constituent	IBA Inferred from Biological aspect of Ancestor 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 heparin binding	ISO Inferred from Sequence Orthology more info
enables hormone activity	IDA Inferred from Direct Assay more info	PubMed
enables hormone activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables integrin binding	ISO Inferred from Sequence Orthology more info
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 activation of protein kinase A activity	ISO Inferred from Sequence Orthology more info
involved_in anatomical structure morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell adhesion mediated by integrin	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cytokine production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glucose homeostasis	ISO Inferred from Sequence Orthology more info
involved_in glucose metabolic process	ISO Inferred from Sequence Orthology more info
involved_in heart development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within immunoglobulin production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in kidney development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lung alveolus development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lung development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in metanephros development	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of brown fat cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of insulin secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of osteoclast development	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of osteoclast development	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of osteoclast differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of osteoclast differentiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of appetite	IDA Inferred from Direct Assay more info	PubMed
involved_in protein kinase A signaling	ISO Inferred from Sequence Orthology more info
involved_in sequestering of BMP in extracellular matrix	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sequestering of TGFbeta in extracellular matrix	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal system development	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in basement membrane	ISO Inferred from Sequence Orthology more info
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in collagen-containing extracellular matrix	ISO Inferred from Sequence Orthology more info
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular matrix	ISO Inferred from Sequence Orthology more info
located_in extracellular region	ISO Inferred from Sequence Orthology more info
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in microfibril	IDA Inferred from Direct Assay more info	PubMed
located_in microfibril	ISO Inferred from Sequence Orthology more info
located_in microfibril	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: fibrillin-1

Names: tight skin

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_007993.2 → NP_032019.2 fibrillin-1 preproprotein

See identical proteins and their annotated locations for NP_032019.2

Status: REVIEWED

Source sequence(s)

AK046621, AL844547, CJ044840

Consensus CDS

CCDS16676.1

UniProtKB/Swiss-Prot

A2AQ53, Q60826, Q61554

Related

ENSMUSP00000028633.7, ENSMUST00000028633.13

Conserved Domains (10) summary

smart00179
Location:1810 → 1842

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:1975 → 2010

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam07645
Location:1932 → 1973

EGF_CA; Calcium-binding EGF domain

pfam00683
Location:1551 → 1592

TB; TB domain

pfam12662
Location:2467 → 2490

cEGF; Complement Clr-like EGF-like

pfam12947
Location:1369 → 1404

EGF_3; EGF domain

pfam14670
Location:1203 → 1238

FXa_inhibition; Coagulation Factor Xa inhibitory site

pfam18193
Location:48 → 82

Fibrillin_U_N; Fibrillin 1 unique N-terminal domain

cl00057
Location:2444 → 2484

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 ...

cl21504
Location:725 → 765

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

125142514..125348417 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006498747.2 → XP_006498810.1 fibrillin-1 isoform X1

See identical proteins and their annotated locations for XP_006498810.1

UniProtKB/Swiss-Prot

A2AQ53, Q60826, Q61554

Conserved Domains (10) summary

smart00179
Location:1810 → 1842

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:1975 → 2010

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam07645
Location:1932 → 1973

EGF_CA; Calcium-binding EGF domain

pfam00683
Location:1551 → 1592

TB; TB domain

pfam12662
Location:2467 → 2490

cEGF; Complement Clr-like EGF-like

pfam12947
Location:1369 → 1404

EGF_3; EGF domain

pfam14670
Location:1203 → 1238

FXa_inhibition; Coagulation Factor Xa inhibitory site

pfam18193
Location:48 → 82

Fibrillin_U_N; Fibrillin 1 unique N-terminal domain

cl00057
Location:2444 → 2484

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 ...

cl21504
Location:725 → 765

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
XM_036158280.1 → XP_036014173.1 fibrillin-1 isoform X2

Conserved Domains (9) summary

smart00179
Location:1810 → 1842

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:1975 → 2010

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam07645
Location:1932 → 1973

EGF_CA; Calcium-binding EGF domain

pfam00683
Location:1551 → 1592

TB; TB domain

pfam12662
Location:789 → 812

cEGF; Complement Clr-like EGF-like

pfam12947
Location:1369 → 1404

EGF_3; EGF domain

pfam14670
Location:1203 → 1238

FXa_inhibition; Coagulation Factor Xa inhibitory site

pfam18193
Location:48 → 82

Fibrillin_U_N; Fibrillin 1 unique N-terminal domain

cl21504
Location:725 → 765

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...