Emilin1 elastin microfibril interfacer 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Emilin1provided by MGI
Official Full Name: elastin microfibril interfacer 1provided by MGI
Primary source: MGI:MGI:1926189
See related: Ensembl:ENSMUSG00000029163 AllianceGenome:MGI:1926189
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: gp115; EMILIN-1; 5830419M17Rik
Summary: Enables extracellular matrix constituent conferring elasticity and identical protein binding activity. Involved in several processes, including negative regulation of signal transduction; regulation of angiogenesis; and regulation of extracellular matrix organization. Acts upstream of or within extracellular matrix organization and positive regulation of cell-substrate adhesion. Located in extracellular matrix. Is expressed in several structures, including early conceptus; embryo mesenchyme; genitourinary system; heart and pericardium; and musculoskeletal system. Human ortholog(s) of this gene implicated in autosomal dominant distal hereditary motor neuronopathy 10. Orthologous to human EMILIN1 (elastin microfibril interfacer 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in limb E14.5 (RPKM 47.2), ovary adult (RPKM 46.0) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 B1; 5 16.9 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (31070729..31078623)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (30913387..30921279)

Chromosome 5 - NC_000071.7 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?

The extracellular matrix protein EMILIN-1 impacts on the microenvironment by hampering gastric cancer development and progression.
Title: The extracellular matrix protein EMILIN-1 impacts on the microenvironment by hampering gastric cancer development and progression.
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
Title: EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
Inactivation of EMILIN-1 by Proteolysis and Secretion in Small Extracellular Vesicles Favors Melanoma Progression and Metastasis.
Title: Inactivation of EMILIN-1 by Proteolysis and Secretion in Small Extracellular Vesicles Favors Melanoma Progression and Metastasis.
Study demonstrated that EMILIN-1, by virtue of its interaction with beta1 integrins, is centrally located in the contest of colitis-associated cancer (CAC) by controlling the process of proliferation, tumor development and counteracting lymphatic dysfunction associated with chronic colonic inflammation.
Title: Abrogation of EMILIN1-β1 integrin interaction promotes experimental colitis and colon carcinogenesis.
Increased blood pressure in mice with selective smooth muscle cell ablation of EMILIN-1 depends on transactivation of EGFR and enhanced myogenic tone.
Title: Loss of EMILIN-1 Enhances Arteriolar Myogenic Tone Through TGF-β (Transforming Growth Factor-β)-Dependent Transactivation of EGFR (Epidermal Growth Factor Receptor) and Is Relevant for Hypertension in Mice and Humans.
EMILIN-1 plays a role in the formation and maintenance of the elastic fiber system in the aorta but is not absolutely mandatory for the overall function of fibulin-4 or fibulin-5 in this microenvironment.
Title: Fibulin-4 deposition requires EMILIN-1 in the extracellular matrix of osteoblasts.
Data suggested mechanisms for homo- and hetero-typic EMILINs multimers formation: EMILIN1 or EMILIN2 alone can form trimers and multimers in the absence of each other or they can co-polymerize in a head-to-tail fashion to form hetero-typic multimers.
Title: Multiple-interactions among EMILIN1 and EMILIN2 N- and C-terminal domains.
Emilin1 deficiency results in aortic valve disease, mediated by non-canonical (MAPK/phosphorylated Erk1 and Erk2) TGF-beta dysregulation.
Title: TGF-β mediates early angiogenesis and latent fibrosis in an Emilin1-deficient mouse model of aortic valve disease.
EMILIN1/integrin alpha 9 beta 1 interaction contributes to lymphatic valve formation, maintenance, and function.
Title: EMILIN1/α9β1 integrin interaction is crucial in lymphatic valve formation and maintenance.
these data established that EMILIN1 exerts a protective role in tumor growth, in tumor lymphatic vessel formation, as well as in metastatic spread to lymph nodes
Title: An EMILIN1-negative microenvironment promotes tumor cell proliferation and lymph node invasion.

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)

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

Emilin1 (e-PCR), detects polymorphism
- UniSTS:502936

AW229038 (e-PCR)
- UniSTS:179151

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables extracellular matrix constituent conferring elasticity	IBA Inferred from Biological aspect of Ancestor more info
enables extracellular matrix constituent conferring elasticity	IMP Inferred from Mutant Phenotype more info	PubMed
enables extracellular matrix constituent conferring elasticity	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables integrin binding involved in cell-matrix adhesion	IEA Inferred from Electronic Annotation more info
enables integrin binding involved in cell-matrix adhesion	ISO Inferred from Sequence Orthology more info
enables molecular adaptor activity	IEA Inferred from Electronic Annotation more info
enables molecular adaptor activity	ISO Inferred from Sequence Orthology more info
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 cell adhesion mediated by integrin	IDA Inferred from Direct Assay more info	PubMed
involved_in cell migration	IEA Inferred from Electronic Annotation more info
involved_in cell migration	ISO Inferred from Sequence Orthology more info
involved_in cell-matrix adhesion	IEA Inferred from Electronic Annotation more info
involved_in cell-matrix adhesion	ISO Inferred from Sequence Orthology more info
involved_in elastic fiber 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 negative regulation of ERK1 and ERK2 cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of SMAD protein signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell activation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of collagen biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of collagen fibril organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of macrophage migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transforming growth factor beta receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of vascular endothelial growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of vascular endothelial growth factor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of angiogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of blood coagulation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of cell-substrate adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of defense response to bacterium	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of extracellular matrix assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of platelet aggregation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of blood pressure	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of EMILIN complex	ISO Inferred from Sequence Orthology more info
part_of collagen trimer	IEA Inferred from Electronic Annotation more info
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	ISO Inferred from Sequence Orthology more info
located_in collagen-containing extracellular matrix	ISS Inferred from Sequence or Structural Similarity more info
located_in collagen-containing extracellular matrix	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
located_in extracellular space	ISO Inferred from Sequence Orthology more info
part_of integrin alpha4-beta1 complex	IEA Inferred from Electronic Annotation more info
part_of integrin alpha4-beta1 complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: EMILIN-1

Names: elastin microfibril interface located protein 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_133918.2 → NP_598679.1 EMILIN-1 precursor

See identical proteins and their annotated locations for NP_598679.1

Status: PROVISIONAL

Source sequence(s)

AC109606

Consensus CDS

CCDS19167.1

UniProtKB/Swiss-Prot

Q99K41

UniProtKB/TrEMBL

Q3U254

Related

ENSMUSP00000031055.6, ENSMUST00000031055.8

Conserved Domains (4) summary

pfam07546
Location:58 → 126

EMI; EMI domain

pfam15394
Location:278 → 421

DUF4616; Domain of unknown function (DUF4616)

cl01972
Location:180 → 255

DUF948; Bacterial protein of unknown function (DUF948)

cl23878
Location:870 → 1011

C1q; C1q domain

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_000071.7 Reference GRCm39 C57BL/6J

Range

31070729..31078623

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006503649.5 → XP_006503712.1 EMILIN-1 isoform X1

UniProtKB/TrEMBL

Q3USG5

Conserved Domains (2) summary

TIGR02168
Location:436 → 605

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

cl23878
Location:667 → 808

C1q; C1q domain