EMILIN1 elastin microfibril interfacer 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EMILIN1provided by HGNC
Official Full Name: elastin microfibril interfacer 1provided by HGNC
Primary source: HGNC:HGNC:19880
See related: Ensembl:ENSG00000138080 MIM:130660; AllianceGenome:HGNC:19880
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EMI; HMN10; gp115; EMILIN; HMND10
Summary: This gene encodes an extracellular matrix glycoprotein that is characterized by an N-terminal microfibril interface domain, a coiled-coiled alpha-helical domain, a collagenous domain and a C-terminal globular C1q domain. The encoded protein associates with elastic fibers at the interface between elastin and microfibrils and may play a role in the development of elastic tissues including large blood vessels, dermis, heart and lung. [provided by RefSeq, Sep 2009]
Expression: Broad expression in endometrium (RPKM 33.6), prostate (RPKM 26.6) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p23.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (27078615..27086403)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (27120286..27128076)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (27301483..27309271)

Chromosome 2 - NC_000002.12 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cancer-associated fibroblast spatial heterogeneity and EMILIN1 expression in the tumor microenvironment modulate TGF-beta activity and CD8[+] T-cell infiltration in breast cancer.
Title: Cancer-associated fibroblast spatial heterogeneity and EMILIN1 expression in the tumor microenvironment modulate TGF-β activity and CD8(+) T-cell infiltration in breast cancer.
Integrated machine learning-driven disulfidptosis profiling: CYFIP1 and EMILIN1 as therapeutic nodes in neuroblastoma.
Title: Integrated machine learning-driven disulfidptosis profiling: CYFIP1 and EMILIN1 as therapeutic nodes in neuroblastoma.
The role of EMILIN-1 in the osteo/odontogenic differentiation of dental pulp stem cells.
Title: The role of EMILIN-1 in the osteo/odontogenic differentiation of dental pulp stem cells.
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.
EMILIN-1 deficiency promotes chronic inflammatory disease through TGFbeta signaling alteration and impairment of the gC1q/alpha4beta1 integrin interaction.
Title: EMILIN-1 deficiency promotes chronic inflammatory disease through TGFβ signaling alteration and impairment of the gC1q/α4β1 integrin interaction.
Elastin MIcrofibriL INterfacer1 (EMILIN-1) is an alternative prosurvival VLA-4 ligand in chronic lymphocytic leukemia.
Title: Elastin MIcrofibriL INterfacer1 (EMILIN-1) is an alternative prosurvival VLA-4 ligand in chronic lymphocytic leukemia.
Data provide evidence that the novel "regulatory structural" role of EMILIN-1 in the lymphangiogenic process is played by the integrin binding site within its gC1q domain.
Title: Integrin binding site within the gC1q domain orchestrates EMILIN-1-induced lymphangiogenesis.
EMILIN1 induces anti-tumor effects by up-regulating TSPAN9 expression in gastric cancer. Hence, membrane proteins TSPAN9 and EMILIN1 may represent novel therapeutic targets for the treatment of gastric cancer.
Title: TSPAN9 and EMILIN1 synergistically inhibit the migration and invasion of gastric cancer cells by increasing TSPAN9 expression.
Report reduced EMILIN-1 and enhanced myogenic tone, dependent on increased TGF-beta-EGFR signaling, in resistance arteries from hypertensive patients.
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.
Study discloses a novel mechanism of interaction occurring between the trimeric gC1q domain of EMILIN1 and the alpha4beta1 integrin and determines that the three E933 residues (one from each monomer) are all required for ligand binding. Furthermore, R904 was identified as a synergistic residue for cell adhesion.
Title: The α4β1/EMILIN1 interaction discloses a novel and unique integrin-ligand type of engagement.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neuronopathy, distal hereditary motor, autosomal dominant 10 MedGen: C5774234 OMIM: 620080 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D2S2247 (e-PCR), detects polymorphism
- UniSTS:66240

Gene Ontology Provided by GOA

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	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables integrin binding involved in cell-matrix adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
enables molecular adaptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in aortic valve morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell adhesion	TAS Traceable Author Statement more info	PubMed
involved_in cell adhesion mediated by integrin	ISO Inferred from Sequence Orthology more info
involved_in cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-matrix adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in elastic fiber assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of ERK1 and ERK2 cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of SMAD protein signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell activation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of collagen biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of collagen fibril organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of macrophage migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of vascular endothelial growth factor receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of vascular endothelial growth factor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of angiogenesis	ISO Inferred from Sequence Orthology more info
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
involved_in positive regulation of cell-substrate adhesion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of defense response to bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of extracellular matrix assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of platelet aggregation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of blood pressure	ISO Inferred from Sequence Orthology more info
involved_in regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of EMILIN complex	IMP Inferred from Mutant Phenotype more info	PubMed
part_of EMILIN complex	IPI Inferred from Physical Interaction more info	PubMed
part_of collagen trimer	IEA Inferred from Electronic Annotation more info
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	IMP Inferred from Mutant Phenotype more info	PubMed
located_in collagen-containing extracellular matrix	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	IMP Inferred from Mutant Phenotype more info	PubMed
part_of integrin alpha4-beta1 complex	IMP Inferred from Mutant Phenotype more info	PubMed

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.