Fbn1 fibrillin 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Fbn1provided by RGD
Official Full Name: fibrillin 1provided by RGD
Primary source: RGD:620908
See related: Ensembl:ENSRNOG00000007302 AllianceGenome:RGD:620908
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to enable several functions, including heparin binding activity; identical protein binding activity; and signaling receptor binding activity. Predicted to be an extracellular matrix structural constituent. Involved in cellular response to insulin-like growth factor stimulus; cellular response to transforming growth factor beta stimulus; and metanephros development. Located in collagen-containing extracellular matrix and extracellular region. Biomarker of glomerulonephritis; hypertension; liver cirrhosis; mesangial proliferative glomerulonephritis; and type 2 diabetes mellitus. Human ortholog(s) of this gene implicated in several diseases, including CREST syndrome; Weill-Marchesani syndrome; aortic disease (multiple); autosomal dominant isolated ectopia lentis 1; and bone disease (multiple). Orthologous to human FBN1 (fibrillin 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in Muscle (RPKM 510.7), Heart (RPKM 484.9) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 3q36

Exon count:: 66

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	3	NC_086021.1 (133007693..133204277, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	3	NC_051338.1 (112554257..112750835, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	3	NC_005102.4 (117569708..117766160, complement)

Chromosome 3 - NC_086021.1 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Increased RBP4 and Asprosin Are Novel Contributors in Inflammation Process of Periodontitis in Obese Rats.
Title: Increased RBP4 and Asprosin Are Novel Contributors in Inflammation Process of Periodontitis in Obese Rats.
FBN1 knockout promotes cervical artery dissection by inducing N-glycosylation alternation of extracellular matrix proteins in rat VSMCs.
Title: FBN1 knockout promotes cervical artery dissection by inducing N-glycosylation alternation of extracellular matrix proteins in rat VSMCs.
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.
Ameliorative Effect of Oxytocin on FBN1 and PEPCK Gene Expression, and Behavioral Patterns in Rats' Obesity-Induced Diabetes.
Title: Ameliorative Effect of Oxytocin on FBN1 and PEPCK Gene Expression, and Behavioral Patterns in Rats' Obesity-Induced Diabetes.
The effect of thyroid dysfunction and treatment on adropin, asprosin and preptin levels in rats.
Title: The effect of thyroid dysfunction and treatment on adropin, asprosin and preptin levels in rats.
Decreased expression of fibrillin-1 during morphogenesis of the fetal diaphragm may disrupt mesenchymal cell proliferation, causing malformed muscle connective tissue and thus resulting in diaphragmatic defects in the nitrofen-induced congenital diaphragmatic hernia model.
Title: Fibrillin-1 Expression Is Decreased in the Diaphragmatic Muscle Connective Tissue of Nitrofen-Induced Congenital Diaphragmatic Hernia.
The concomitant induction of both fibrillin-1 and alpha8 integrin in a self-limited model of glomerular injury points to a protective role of the interaction of fibrillin-1 with alpha8 integrin in the glomerulus.
Title: Fibrillin-1 and alpha8 integrin are co-expressed in the glomerulus and interact to convey adhesion of mesangial cells.
mRNA expression of Fbn1 increases in kidney and decreases in heart under hyperglycaemic/hyperinsulinaemic conditions.
Title: Epigenetic changes and alteration of Fbn1 and Col3A1 gene expression under hyperglycaemic and hyperinsulinaemic conditions.
ANG II can directly induce fibrillin-1 expression in cardiac fibroblasts
Title: Enhanced expression of fibrillin-1, a constituent of the myocardial extracellular matrix in fibrosis.
Mesangial expression of LTBP-1 and fibrillin-1 is induced early in experimental nephritis and LTBP-1 and fibrillin-1 are partially colocalized in the nephritic glomerulus.
Title: Induction and coexpression of latent transforming growth factor beta-binding protein-1 and fibrillin-1 in experimental glomerulonephritis.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

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

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

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

RH127983 (e-PCR)
- UniSTS:211293

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

RH138472 (e-PCR)
- UniSTS:220559

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

Gene Ontology Provided by RGD

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 heparin binding	ISO Inferred from Sequence Orthology more info
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-containing complex binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in anatomical structure morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in camera-type eye development	ISO Inferred from Sequence Orthology more info
involved_in cell adhesion mediated by integrin	ISO Inferred from Sequence Orthology more info
involved_in cellular response to insulin-like growth factor stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to transforming growth factor beta stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in embryonic eye morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within gene expression	ISO Inferred from Sequence Orthology more info
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
involved_in kidney development	IEP Inferred from Expression Pattern more info	PubMed
involved_in kidney development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lung alveolus development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lung development	ISO Inferred from Sequence Orthology more info
involved_in metanephros development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of brown fat cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of insulin secretion	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of osteoclast development	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of osteoclast differentiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of appetite	ISO Inferred from Sequence Orthology more info
involved_in post-embryonic eye morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in protein kinase A signaling	ISO Inferred from Sequence Orthology more info
involved_in sequestering of BMP in extracellular matrix	ISO Inferred from Sequence Orthology more info
involved_in sequestering of TGFbeta in extracellular matrix	ISO Inferred from Sequence Orthology more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info
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	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	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	ISO Inferred from Sequence Orthology more info
is_active_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in microfibril	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: fibrillin-1

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_031825.3 → NP_114013.2 fibrillin-1 precursor

Status: VALIDATED

Source sequence(s)

JAXUCZ010000003

UniProtKB/TrEMBL

A6HPX0, G3V9M6, Q9WUH8

Conserved Domains (10) summary

smart00179
Location:1809 → 1841

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:1974 → 2009

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:1931 → 1972

EGF_CA; Calcium-binding EGF domain

pfam00683
Location:1550 → 1591

TB; TB domain

pfam12662
Location:2466 → 2489

cEGF; Complement Clr-like EGF-like

pfam12947
Location:1368 → 1403

EGF_3; EGF domain

pfam14670
Location:1202 → 1237

FXa_inhibition; Coagulation Factor Xa inhibitory site

pfam18193
Location:48 → 82

Fibrillin_U_N; Fibrillin 1 unique N-terminal domain

cl00057
Location:2443 → 2483

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:724 → 764

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_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086021.1 Reference GRCr8

Range

133007693..133204277 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006234935.3 → XP_006234997.1 fibrillin-1 isoform X1

UniProtKB/TrEMBL

A6HPX0, G3V9M6, Q9WUH8

Related

ENSRNOP00000052876.2, ENSRNOT00000056022.4

Conserved Domains (10) summary

smart00179
Location:1809 → 1841

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:1974 → 2009

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:1931 → 1972

EGF_CA; Calcium-binding EGF domain

pfam00683
Location:1550 → 1591

TB; TB domain

pfam12662
Location:2466 → 2489

cEGF; Complement Clr-like EGF-like

pfam12947
Location:1368 → 1403

EGF_3; EGF domain

pfam14670
Location:1202 → 1237

FXa_inhibition; Coagulation Factor Xa inhibitory site

pfam18193
Location:48 → 82

Fibrillin_U_N; Fibrillin 1 unique N-terminal domain

cl00057
Location:2443 → 2483

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:724 → 764

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_008762203.3 → XP_008760425.1 fibrillin-1 isoform X1

See identical proteins and their annotated locations for XP_008760425.1

UniProtKB/TrEMBL

A6HPX0, G3V9M6, Q9WUH8

Related

ENSRNOP00000082856.1

Conserved Domains (10) summary

smart00179
Location:1809 → 1841

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:1974 → 2009

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:1931 → 1972

EGF_CA; Calcium-binding EGF domain

pfam00683
Location:1550 → 1591

TB; TB domain

pfam12662
Location:2466 → 2489

cEGF; Complement Clr-like EGF-like

pfam12947
Location:1368 → 1403

EGF_3; EGF domain

pfam14670
Location:1202 → 1237

FXa_inhibition; Coagulation Factor Xa inhibitory site

pfam18193
Location:48 → 82

Fibrillin_U_N; Fibrillin 1 unique N-terminal domain

cl00057
Location:2443 → 2483

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:724 → 764

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 ...