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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 Juxtacortical Osteosarcoma and Peripheral Osteosarcoma. 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

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

Genomics for EMILIN1 Gene

Regulatory Elements for EMILIN1 Gene

Enhancers for EMILIN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G027703 1.6 Ensembl ENCODE dbSUPER 15.5 +626.8 626790 4.1 HDGF ZFP64 SIN3A FEZF1 ZNF2 ZNF143 ZNF207 FOS DEK ZNF263 EMILIN1 CCDC121 GPN1 FNDC4 OST4 LOC105374378 SUPT7L
GH02G026410 1.6 FANTOM5 Ensembl ENCODE 15.5 -666.7 -666651 2.5 HDGF ARNT YY1 ZNF766 KLF13 JUNB ZNF592 MEF2D SMARCA4 NBN EMILIN1 HADHA OST4 RAB10 SELENOI DRC1 ADGRF3 CENPA OTOF
GH02G027014 1.5 Ensembl ENCODE dbSUPER 15.7 -62.4 -62409 2.5 FOXA2 ATF1 CREB3L1 ARNT YY1 ZNF766 CBX5 GATA2 ELK1 ZNF143 KHK EMILIN1 LOC100129724 GC02M027029
GH02G026749 1.2 Ensembl ENCODE 15.5 -328.3 -328294 1.6 ATF1 ARNT SIN3A TCF12 ZNF766 KLF13 CAVIN1 JUNB NCOA1 ZNF592 EMILIN1 KCNK3 DPYSL5 SLC35F6 GC02P026705
GH02G027320 1.8 FANTOM5 ENCODE dbSUPER 9.7 +244.1 244111 4.2 PKNOX1 FOXA2 MLX CREB3L1 ARNT ARID4B SIN3A YBX1 DMAP1 YY1 ATRAID ZNF512 ENSG00000235267 DNAJC5G SLC30A3 SNX17 ZNF513 SLC5A6 EMILIN1 KHK
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EMILIN1 on UCSC Golden Path with GeneCards custom track

Promoters for EMILIN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000114375 733 1401 ARID4B SIN3A RAD21 EGR1 PCBP1 CAVIN1 CEBPB HDAC8 NR2F2 ZNF592

Genomic Location for EMILIN1 Gene

Chromosome:
2
Start:
27,078,567 bp from pter
End:
27,086,408 bp from pter
Size:
7,842 bases
Orientation:
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:
    Q9Y6C2-EMIL1_HUMAN
    Recommended name:
    EMILIN-1
    Protein Accession:
    Q9Y6C2
    Secondary Accessions:
    • A5PL03
    • H0Y7A0
    • Q53SY9
    • Q96G58
    • Q96IH6
    • Q9UG76

    Protein attributes for EMILIN1 Gene

    Size:
    1016 amino acids
    Molecular mass:
    106667 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.
    Miscellaneous:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for EMILIN1 Gene

Post-translational modifications for EMILIN1 Gene

  • Glycosylation at isoforms=154, isoforms=274, Asn415, Asn455, Asn561, Ser622, isoforms=658, Asn766, and Asn794
  • Modification sites at PhosphoSitePlus

Other Protein References for EMILIN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for EMILIN1
  • Santa Cruz Biotechnology (SCBT) Antibodies for EMILIN1

No data available for DME Specific Peptides for EMILIN1 Gene

Domains & Families for EMILIN1 Gene

Gene Families for EMILIN1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

COMPARTMENTS
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 --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005581 collagen trimer IEA --
GO:0005615 extracellular space IMP,IEA 26462740
GO:0031012 extracellular matrix IMP,IEA 26462740
genes like me logo Genes that share ontologies with EMILIN1: view

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 IBA --
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

Unigene Clusters for EMILIN1 Gene

Elastin microfibril interfacer 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8
SP1:
SP2: -
SP3:
SP4:

Relevant External Links for EMILIN1 Gene

GeneLoc Exon Structure for
EMILIN1
ECgene alternative splicing isoforms for
EMILIN1

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, PaxDb, 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:

EMILIN1

SOURCE GeneReport for Unigene cluster for EMILIN1 Gene:

Hs.63348

mRNA Expression by UniProt/SwissProt for EMILIN1 Gene:

Q9Y6C2-EMIL1_HUMAN
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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia EMILIN1 34 35
  • 99.44 (n)
dog
(Canis familiaris)
Mammalia EMILIN1 34 35
  • 89.04 (n)
cow
(Bos Taurus)
Mammalia EMILIN1 34 35
  • 87.86 (n)
rat
(Rattus norvegicus)
Mammalia Emilin1 34
  • 84.15 (n)
mouse
(Mus musculus)
Mammalia Emilin1 34 16 35
  • 84.04 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 73 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia EMILIN1 35
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EMILIN1 35
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia emilin1 34
  • 56.07 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1881 34
zebrafish
(Danio rerio)
Actinopterygii emilin1a 34 35
  • 50.81 (n)
emilin1b 35
  • 37 (a)
OneToMany
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

ENSEMBL:
Gene Tree for EMILIN1 (if available)
TreeFam:
Gene Tree for EMILIN1 (if available)

Paralogs for EMILIN1 Gene

Paralogs for EMILIN1 Gene

Pseudogenes.org 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 Sequence Context AA Info Type
rs116028777 Likely benign 27,086,811(+) TCGCG(G/T)GTCCC downstream-variant-500B, utr-variant-5-prime
rs116365550 Likely benign 27,086,816(+) TGTCC(A/C/G)GGGTC downstream-variant-500B, utr-variant-5-prime
rs753862645 Uncertain significance 27,079,129(+) GGGCC(A/G)CCAGC reference, missense
rs753987568 Uncertain significance 27,080,177(+) GACCC(A/G)GACAG reference, missense
rs886055883 Uncertain significance 27,086,881(+) TTGCA(A/T)TCTCG downstream-variant-500B, utr-variant-5-prime

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)

Relevant External Links for EMILIN1 Gene

Human Gene Mutation Database (HGMD)
EMILIN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EMILIN1

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

Disorders for EMILIN1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for EMILIN1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
juxtacortical osteosarcoma
  • parosteal osteogenic sarcoma
peripheral osteosarcoma
  • surface osteosarcoma
bone osteosarcoma
  • osteosarcoma of bone
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for EMILIN1

Genetic Association Database (GAD)
EMILIN1
Human Genome Epidemiology (HuGE) Navigator
EMILIN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EMILIN1
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. (Am. J. Hypertens. 2010) 3 22 46 64
  2. Structure, chromosomal localization, and promoter analysis of the human elastin microfibril interface located protein (EMILIN) gene. (PMID: 10625608) Doliana R. … Colombatti A. (J. Biol. Chem. 2000) 3 4 22 64
  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. (J. Biol. Chem. 1999) 3 4 22 64
  4. Diagnostic exome sequencing identifies a novel gene, EMILIN1, associated with autosomal dominant hereditary connective tissue disease. (PMID: 26462740) Capuano A. … Doliana R. (Hum. Mutat. 2015) 3 4 64
  5. NMR-based homology model for the solution structure of the C-terminal globular domain of EMILIN1. (PMID: 19023665) Verdone G. … Esposito G. (J. Biomol. NMR 2009) 3 4 64

Products for EMILIN1 Gene

Sources for EMILIN1 Gene

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