Eln elastin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Elnprovided by MGI
Official Full Name: elastinprovided by MGI
Primary source: MGI:MGI:95317
See related: Ensembl:ENSMUSG00000029675 AllianceGenome:MGI:95317
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: E030024M20Rik
Summary: This gene encodes elastin, the extracellular matrix protein that forms a major structural component of several tissues including lungs and arterial walls. Cleavage of the signal peptide from the encoded precursor generates soluble tropoelastin which undergoes lysine-derived crosslinking to form elastin polymers. Mice lacking the encoded protein exhibit defective lung development, and die of an obstructive arterial disease resulting from subendothelial cell proliferation and reorganization of smooth muscle. [provided by RefSeq, Aug 2015]
Expression: Broad expression in lung adult (RPKM 131.3), limb E14.5 (RPKM 72.1) and 17 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 G2; 5 74.76 cM

Exon count:: 37

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (134731449..134776300, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (134702595..134747368, complement)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Citrullination, a novel posttranslational modification of elastin, is involved in COPD pathogenesis.
Title: Citrullination, a novel posttranslational modification of elastin, is involved in COPD pathogenesis.
Altered Elastin Turnover, Immune Response, and Age-Related Retinal Thinning in a Transgenic Mouse Model With RPE-Specific HTRA1 Overexpression.
Title: Altered Elastin Turnover, Immune Response, and Age-Related Retinal Thinning in a Transgenic Mouse Model With RPE-Specific HTRA1 Overexpression.
Constitutive Modeling of Mouse Arteries Suggests Changes in Directional Coupling and Extracellular Matrix Remodeling That Depend on Artery Type, Age, Sex, and Elastin Amounts.
Title: Constitutive Modeling of Mouse Arteries Suggests Changes in Directional Coupling and Extracellular Matrix Remodeling That Depend on Artery Type, Age, Sex, and Elastin Amounts.
High-Intensity Focused Ultrasound Increases Collagen and Elastin Fiber Synthesis by Modulating Caveolin-1 in Aging Skin.
Title: High-Intensity Focused Ultrasound Increases Collagen and Elastin Fiber Synthesis by Modulating Caveolin-1 in Aging Skin.
A new mouse model of elastin haploinsufficiency highlights the importance of elastin to vascular development and blood pressure regulation.
Title: A new mouse model of elastin haploinsufficiency highlights the importance of elastin to vascular development and blood pressure regulation.
Upregulation of key genes Eln and Tgfb3 were associated with the severity of cardiac hypertrophy.
Title: Upregulation of key genes Eln and Tgfb3 were associated with the severity of cardiac hypertrophy.
Neutrophilic inflammation during lung development disrupts elastin assembly and predisposes adult mice to COPD.
Title: Neutrophilic inflammation during lung development disrupts elastin assembly and predisposes adult mice to COPD.
Whole exome sequencing in patients with Williams-Beuren syndrome followed by disease modeling in mice points to four novel pathways that may modify stenosis risk.
Title: Whole exome sequencing in patients with Williams-Beuren syndrome followed by disease modeling in mice points to four novel pathways that may modify stenosis risk.
Elastin homeostasis is altered with pelvic organ prolapse in cultures of vaginal cells from a lysyl oxidase-like 1 knockout mouse model.
Title: Elastin homeostasis is altered with pelvic organ prolapse in cultures of vaginal cells from a lysyl oxidase-like 1 knockout mouse model.
Elastin haploinsufficiency in mice has divergent effects on arterial remodeling with aging depending on sex.
Title: Elastin haploinsufficiency in mice has divergent effects on arterial remodeling with aging depending on sex.

Submit: New GeneRIF Correction See all GeneRIFs (62)

Variation

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Alleles

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

Endonuclease-mediated (3) 1 citation
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Eln (e-PCR), detects polymorphism
- UniSTS:532485

G48151 (e-PCR)
- UniSTS:95256

Eln (e-PCR), detects polymorphism
- UniSTS:498784

Eln (e-PCR), detects polymorphism
- UniSTS:531310

D5Mit282 (e-PCR), detects polymorphism
- UniSTS:130420

Eln (e-PCR), detects polymorphism
- UniSTS:230789

Eln (e-PCR), detects polymorphism
- UniSTS:142983

D12Mgh12 (e-PCR)
- UniSTS:239829

AI385707 (e-PCR)
- UniSTS:159453

G48109 (e-PCR)
- UniSTS:95219

Eln (e-PCR), detects polymorphism
- UniSTS:255219

G48111 (e-PCR)
- UniSTS:95221

G48112 (e-PCR)
- UniSTS:95222

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables extracellular matrix binding	IDA Inferred from Direct Assay more info	PubMed
enables extracellular matrix constituent conferring elasticity	IDA Inferred from Direct Assay more info	PubMed
enables extracellular matrix constituent conferring elasticity	ISO Inferred from Sequence Orthology more info
enables extracellular matrix constituent conferring elasticity	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in aortic valve morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in blood vessel remodeling	ISO Inferred from Sequence Orthology more info
involved_in extracellular matrix assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within extracellular matrix organization	IDA Inferred from Direct Assay more info	PubMed
involved_in outflow tract morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in outflow tract morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of actin filament polymerization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within stress fiber assembly	IMP Inferred from Mutant Phenotype more info	PubMed

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

General protein information

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Preferred Names: elastin

Names: tropoelastin

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.