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Aliases for EMILIN1 Gene

Aliases for EMILIN1 Gene

  • Elastin Microfibril Interfacer 1 2 3 4 5
  • Elastin Microfibril Interface-Located Protein 1 3 4
  • EMI 3 4
  • EMILIN-1 3
  • EMILIN 3
  • Gp115 3

External Ids for EMILIN1 Gene

Previous GeneCards Identifiers for EMILIN1 Gene

  • GC02P027259
  • GC02P027276
  • GC02P027213
  • GC02P027301
  • GC02P027043

Summaries for EMILIN1 Gene

Entrez Gene Summary for EMILIN1 Gene

  • 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]

GeneCards Summary for EMILIN1 Gene

EMILIN1 (Elastin Microfibril Interfacer 1) is a Protein Coding gene. Diseases associated with EMILIN1 include Emilin-1-Related Connective Tissue Disease and Fructosuria, Essential. Gene Ontology (GO) annotations related to this gene include identical protein binding and extracellular matrix constituent conferring elasticity. An important paralog of this gene is EMILIN2.

UniProtKB/Swiss-Prot for EMILIN1 Gene

  • May be responsible for anchoring smooth muscle cells to elastic fibers, and may be involved not only in the formation of the elastic fiber, but also in the processes that regulate vessel assembly. Has cell adhesive capacity.

Gene Wiki entry for EMILIN1 Gene

Additional gene information for EMILIN1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EMILIN1 Gene

Genomics for EMILIN1 Gene

GeneHancer (GH) Regulatory Elements for EMILIN1 Gene

Promoters and enhancers for EMILIN1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J027069 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 664.5 -2.1 -2073 14.9 CLOCK MLX DMAP1 YBX1 IRF4 YY1 SLC30A9 E2F8 ZNF143 MCM3 EMILIN1 OST4 CAD GTF3C2 SNX17 NRBP1 LOC105374363 GPN1 KHK TMEM214
GH02J027320 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.7 +244.1 244111 4.2 MLX YBX1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC SSRP1 PIR47141 MPV17 ATRAID AGBL5 DNAJC5G SLC30A3 SNX17 ZNF513 PPM1G SLC5A6
GH02J027031 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.8 -45.4 -45404 2.7 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B ZNF766 ZNF207 TMEM214 GC02M027029 KHK GPN1 CAD LOC105374363 EIF2B4 NRBP1 GTF3C2-AS1 EMILIN1
GH02J026970 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 10.1 -106.9 -106940 2.9 HDGF PKNOX1 CLOCK ARID4B SIN3A IRF4 ZNF48 E2F8 ZNF207 ZNF143 MAPRE3 KHK CAD GTF3C2 SNX17 GPN1 ZNF513 ATRAID LOC105374363 NRBP1
GH02J027280 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 13.8 +203.7 203712 3.2 CTCF ATF1 SAP130 ZSCAN4 BACH1 SIN3A ZNF316 POLR2A PRDM10 NFE2 TRIM54 ATRAID EMILIN1 GTF3C2 GPN1 NRBP1 CAD SNX17 EIF2B4 TMEM214
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EMILIN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EMILIN1 gene promoter:
  • PPAR-alpha
  • Pax-5
  • Arnt
  • ER-alpha
  • RORalpha1
  • C/EBPalpha
  • Meis-1
  • Meis-1a
  • Meis-1b
  • E2F

Genomic Locations for EMILIN1 Gene

Genomic Locations for EMILIN1 Gene
7,842 bases
Plus strand
7,837 bases
Plus strand

Genomic View for EMILIN1 Gene

Genes around EMILIN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EMILIN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EMILIN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EMILIN1 Gene

Proteins for EMILIN1 Gene

  • Protein details for EMILIN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • A0A0C4DFX3
    • A5PL03
    • H0Y7A0
    • Q53SY9
    • Q96G58
    • Q96IH6
    • Q9UG76

    Protein attributes for EMILIN1 Gene

    1016 amino acids
    Molecular mass:
    106695 Da
    Quaternary structure:
    • Homotrimer associated through a moderately stable interaction of the C-terminal globular C1q domains, allowing the nucleation of the triple helix and then a further quaternary assembly to higher-order polymers via intermolecular disulfide bonds. Interacts with EMILIN2.
    • Its deposition precedes the appearance of elastin and is simultaneous with that of fibrillin 1.

    Three dimensional structures from OCA and Proteopedia for EMILIN1 Gene

    Alternative splice isoforms for EMILIN1 Gene


neXtProt entry for EMILIN1 Gene

Post-translational modifications for EMILIN1 Gene

  • Glycosylation at Asn794, Asn766, isoforms=658, Ser622, isoforms=561, Asn455, Asn415, isoforms=274, and Asn154
  • Modification sites at PhosphoSitePlus

Other Protein References for EMILIN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EMILIN1 Gene

Domains & Families for EMILIN1 Gene

Gene Families for EMILIN1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for EMILIN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with EMILIN1: view

No data available for UniProtKB/Swiss-Prot for EMILIN1 Gene

Function for EMILIN1 Gene

Molecular function for EMILIN1 Gene

UniProtKB/Swiss-Prot Function:
May be responsible for anchoring smooth muscle cells to elastic fibers, and may be involved not only in the formation of the elastic fiber, but also in the processes that regulate vessel assembly. Has cell adhesive capacity.

Gene Ontology (GO) - Molecular Function for EMILIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11278945
GO:0030023 extracellular matrix constituent conferring elasticity IBA,IEA --
GO:0042802 identical protein binding IPI,IEA 10821830
GO:0098640 integrin binding involved in cell-matrix adhesion IMP 18463100
genes like me logo Genes that share ontologies with EMILIN1: view
genes like me logo Genes that share phenotypes with EMILIN1: view

Animal Models for EMILIN1 Gene

MGI Knock Outs for EMILIN1:

Animal Model Products

  • Taconic Biosciences Mouse Models for EMILIN1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for EMILIN1 Gene

Localization for EMILIN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EMILIN1 Gene

Secreted, extracellular space, extracellular matrix. Note=Found mainly at the interface between amorphous elastin and microfibrils. {ECO:0000303 PubMed:10625608}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EMILIN1 gene
Compartment Confidence
extracellular 5
plasma membrane 4
mitochondrion 1
nucleus 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for EMILIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS,IEA --
GO:0005581 collagen trimer IEA --
GO:0005615 extracellular space IMP,IEA 26462740
GO:0031012 extracellular matrix IDA,IMP 26462740
GO:0034668 integrin alpha4-beta1 complex IMP 18463100
genes like me logo Genes that share ontologies with EMILIN1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EMILIN1 Gene

Pathways & Interactions for EMILIN1 Gene

SuperPathways for EMILIN1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EMILIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion TAS 10358019
GO:0007160 cell-matrix adhesion IMP 18463100
GO:0010811 positive regulation of cell-substrate adhesion IEA --
GO:0016477 cell migration IMP 18463100
GO:0030198 extracellular matrix organization IEA --
genes like me logo Genes that share ontologies with EMILIN1: view

No data available for Pathways by source and SIGNOR curated interactions for EMILIN1 Gene

Drugs & Compounds for EMILIN1 Gene

(1) Drugs for EMILIN1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with EMILIN1: view

Transcripts for EMILIN1 Gene

mRNA/cDNA for EMILIN1 Gene

(1) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(236) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EMILIN1 Gene

Elastin microfibril interfacer 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EMILIN1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8
SP2: -

Relevant External Links for EMILIN1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EMILIN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EMILIN1 Gene

Protein differential expression in normal tissues from HIPED for EMILIN1 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (23.3), Urinary Bladder (6.9), and Gallbladder (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EMILIN1 Gene

Protein tissue co-expression partners for EMILIN1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EMILIN1 Gene:


SOURCE GeneReport for Unigene cluster for EMILIN1 Gene:


mRNA Expression by UniProt/SwissProt for EMILIN1 Gene:

Tissue specificity: Distributed in tissues where resilience and elastic recoil are prominent. Highest levels in the adult small intestine, aorta, lung, uterus, and appendix and in the fetal spleen, kidney, lung, and heart; intermediate expression was detected in adult liver, ovary, colon, stomach, lymph node and spleen; adult heart, bladder, prostate, adrenal gland, mammary gland, placenta and kidney showed low expression whereas a series of other adult tissues, including skeletal muscle and different regions of adult brain show no expression.

Evidence on tissue expression from TISSUES for EMILIN1 Gene

  • Blood(4.5)
  • Liver(4.5)
  • Nervous system(4.4)
  • Heart(2.7)
  • Gall bladder(2.2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with EMILIN1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for EMILIN1 Gene

Orthologs for EMILIN1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EMILIN1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia EMILIN1 34 33
  • 99.44 (n)
(Canis familiaris)
Mammalia EMILIN1 34 33
  • 89.04 (n)
(Bos Taurus)
Mammalia EMILIN1 34 33
  • 87.86 (n)
(Rattus norvegicus)
Mammalia Emilin1 33
  • 84.15 (n)
(Mus musculus)
Mammalia Emilin1 16 34 33
  • 84.04 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 73 (a)
(Monodelphis domestica)
Mammalia EMILIN1 34
  • 71 (a)
(Anolis carolinensis)
Reptilia EMILIN1 34
  • 50 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia emilin1 33
  • 56.07 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1881 33
(Danio rerio)
Actinopterygii emilin1a 34 33
  • 50.81 (n)
emilin1b 34
  • 37 (a)
Species where no ortholog for EMILIN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EMILIN1 Gene

Gene Tree for EMILIN1 (if available)
Gene Tree for EMILIN1 (if available)
Evolutionary constrained regions (ECRs) for EMILIN1: view image

Paralogs for EMILIN1 Gene

Paralogs for EMILIN1 Gene Pseudogenes for EMILIN1 Gene

genes like me logo Genes that share paralogs with EMILIN1: view

Variants for EMILIN1 Gene

Sequence variations from dbSNP and Humsavar for EMILIN1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs116028777 likely-benign, Fructosuria, essential 27,086,811(+) T/G downstream_transcript_variant
rs116365550 likely-benign, Fructosuria, essential 27,086,816(+) C/A/G downstream_transcript_variant
rs6742004 benign, Fructosuria, essential 27,086,791(+) A/C downstream_transcript_variant
rs753862645 uncertain-significance, Inborn genetic diseases, not provided 27,079,129(+) G/A coding_sequence_variant, missense_variant
rs753987568 uncertain-significance, Malignant tumor of prostate 27,080,177(+) G/A coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for EMILIN1 Gene

Variant ID Type Subtype PubMed ID
dgv6744n54 CNV loss 21841781
nsv455974 CNV loss 19166990
nsv817673 CNV gain 17921354
nsv833603 CNV loss 17160897

Variation tolerance for EMILIN1 Gene

Residual Variation Intolerance Score: 86.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.47; 55.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EMILIN1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EMILIN1 Gene

Disorders for EMILIN1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for EMILIN1 Gene - From: HGMD, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
emilin-1-related connective tissue disease
fructosuria, essential
  • hepatic fructokinase deficiency
juxtacortical osteosarcoma
  • parosteal osteogenic sarcoma
peripheral osteosarcoma
  • surface osteosarcoma
bone osteosarcoma
  • osteosarcoma of bone
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for EMILIN1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with EMILIN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EMILIN1 Gene

Publications for EMILIN1 Gene

  1. Association study of the elastin microfibril interfacer 1 (EMILIN1) gene in essential hypertension. (PMID: 20186130) Shimodaira M … Matsumoto K (American journal of hypertension 2010) 3 22 44 58
  2. Structure, chromosomal localization, and promoter analysis of the human elastin microfibril interfase located proteIN (EMILIN) gene. (PMID: 10625608) Doliana R … Colombatti A (The Journal of biological chemistry 2000) 3 4 22 58
  3. EMILIN, a component of the elastic fiber and a new member of the C1q/tumor necrosis factor superfamily of proteins. (PMID: 10358019) Doliana R … Colombatti A (The Journal of biological chemistry 1999) 3 4 22 58
  4. Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease. (PMID: 26462740) Capuano A … Doliana R (Human mutation 2016) 3 4 58
  5. NMR-based homology model for the solution structure of the C-terminal globular domain of EMILIN1. (PMID: 19023665) Verdone G … Esposito G (Journal of biomolecular NMR 2009) 3 4 58

Products for EMILIN1 Gene

Sources for EMILIN1 Gene

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