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Aliases for EMILIN1 Gene

Aliases for EMILIN1 Gene

  • Elastin Microfibril Interfacer 1 2 3 4
  • Elastin Microfibril Interface-Located Protein 1 3 4
  • EMILIN 3 6
  • EMI 3 4
  • Elastin Microfibril Interface Located Protein 3
  • EMILIN-1 3
  • Gp115 3

External Ids for EMILIN1 Gene

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. GO annotations related to this gene include identical protein binding and extracellular matrix constituent conferring elasticity. An important paralog of this gene is COL26A1.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EMILIN1 Gene

Genomics for EMILIN1 Gene

Genomic Location for EMILIN1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EMILIN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EMILIN1 Gene

Regulatory Elements 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

Proteomics data for EMILIN1 Gene at MOPED

Post-translational modifications for EMILIN1 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn154, Ser274, Asn415, Asn455, Asn561, Ser622, Asn658, Asn766, and Asn794

Other Protein References for EMILIN1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for EMILIN1 Gene

Domains for EMILIN1 Gene

Gene Families for EMILIN1 Gene

HGNC:
  • EMID :EMI domain containing

UniProtKB/Swiss-Prot:

EMIL1_HUMAN
Domain:
  • Contains 1 C1q domain.:
    • Q9Y6C2
  • Contains 1 collagen-like domain.:
    • Q9Y6C2
  • Contains 1 EMI domain.:
    • Q9Y6C2
genes like me logo Genes that share domains with EMILIN1: view

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 IEA --
GO:0042802 identical protein binding IEA --
genes like me logo Genes that share ontologies with EMILIN1: view

Phenotypes for EMILIN1 Gene

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

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EMILIN1 Gene COMPARTMENTS Subcellular localization image for EMILIN1 gene
Compartment Confidence
extracellular 5
cytoskeleton 1
cytosol 1
lysosome 1
mitochondrion 1
nucleus 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:0031012 colocalizes_with extracellular matrix IDA 20551380
GO:0070062 extracellular exosome IDA 21362503
genes like me logo Genes that share ontologies with EMILIN1: view

Pathways 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 IEA --
GO:0010811 positive regulation of cell-substrate adhesion IEA --
GO:0030198 extracellular matrix organization TAS --
genes like me logo Genes that share ontologies with EMILIN1: view

No data available for Pathways by source for EMILIN1 Gene

Compounds for EMILIN1 Gene

(1) Novoseek inferred chemical compound relationships for EMILIN1 Gene

Compound -log(P) Hits PubMed IDs
leucine 26.9 1
genes like me logo Genes that share compounds with EMILIN1: view

Transcripts for EMILIN1 Gene

Unigene Clusters for EMILIN1 Gene

Elastin microfibril interfacer 1:
Representative Sequences:

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 for EMILIN1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for EMILIN1 Gene

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.
genes like me logo Genes that share expressions with EMILIN1: view

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 36
  • 99.44 (n)
  • 99.21 (a)
EMILIN1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EMILIN1 36
  • 87.86 (n)
  • 90.42 (a)
EMILIN1 37
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EMILIN1 36
  • 89.04 (n)
  • 92.08 (a)
EMILIN1 37
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Emilin1 36
  • 84.04 (n)
  • 86.8 (a)
Emilin1 16
Emilin1 37
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EMILIN1 37
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 73 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Emilin1 36
  • 84.15 (n)
  • 87.33 (a)
lizard
(Anolis carolinensis)
Reptilia EMILIN1 37
  • 50 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.1881 36
tropical clawed frog
(Silurana tropicalis)
Amphibia emilin1 36
  • 56.07 (n)
  • 45.44 (a)
zebrafish
(Danio rerio)
Actinopterygii emilin1a 36
  • 50.81 (n)
  • 39.55 (a)
emilin1a 37
  • 35 (a)
OneToMany
emilin1b 37
  • 37 (a)
OneToMany
Species with no ortholog for EMILIN1:
  • 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 MAF
rs2011616 -- 27,079,693(+) AAGAG(A/G)GGCAG intron-variant
rs2289360 -- 27,079,297(-) CAGGC(A/G)GAGGT intron-variant
rs2736976 - 27,080,887(+) GGCCC(A/G)GCCTG missense, reference
rs3754734 -- 27,076,730(+) TCTCT(G/T)AATTT upstream-variant-2KB
rs3754735 -- 27,077,401(+) CTGAC(A/G)GCTCT upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv455974 CNV Loss 19166990
nsv817673 CNV Gain 17921354
nsv833603 CNV Loss 17160897
nsv873752 CNV Loss 21882294

Relevant External Links for EMILIN1 Gene

HapMap Linkage Disequilibrium report
EMILIN1

Disorders for EMILIN1 Gene

Relevant External Links for EMILIN1

Genetic Association Database (GAD)
EMILIN1
Human Genome Epidemiology (HuGE) Navigator
EMILIN1
genes like me logo Genes that share disorders with EMILIN1: view

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

Publications for EMILIN1 Gene

  1. 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 23
  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 23
  3. Association study of the elastin microfibril interfacer 1 (EMILIN1) gene in essential hypertension. (PMID: 20186130) Shimodaira M. … Matsumoto K. (Am. J. Hypertens. 2010) 3 23 49
  4. Isolation and characterization of EMILIN-2, a new component of the growing EMILINs family and a member of the EMI domain-containing superfamily. (PMID: 11278945) Doliana R. … Colombatti A. (J. Biol. Chem. 2001) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for EMILIN1 Gene

Sources for EMILIN1 Gene

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