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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

EMILIN1 Gene

protein-coding   GIFtS: 54
GCID: GC02P027301

Elastin Microfibril Interfacer 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Elastin Microfibril Interfacer 11 2 3     EMILIN-12
Elastin Microfibril Interface-Located Protein 12 3     Elastin Microfibril Interface Located Protein2
EMI2 3     gp1152
EMILIN2 5     

External Ids:    HGNC: 198801   Entrez Gene: 111172   Ensembl: ENSG000001380807   OMIM: 1306605   UniProtKB: Q9Y6C23   

Export aliases for EMILIN1 gene to outside databases

Previous GC identifers: GC02P027259 GC02P027276 GC02P027213 GC02P027043


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 spastic hemiplegia, and keshan disease, and among its related super-pathways are Molecules associated with elastic fibres and Collagen formation. GO annotations related to this gene include extracellular matrix constituent conferring elasticity and identical protein binding. An important paralog of this gene is EMILIN2.

UniProtKB/Swiss-Prot: EMIL1_HUMAN, Q9Y6C2
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 Wiki entry for EMILIN1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_022184.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EMILIN1 gene promoter:
         ER-alpha   Pax-5   Meis-1b   C/EBPalpha   Arnt   PPAR-alpha   RORalpha1   E2F   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEMILIN1 promoter sequence
   Search SABiosciences Chromatin IP Primers for EMILIN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EMILIN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p23.3-p23.2   Ensembl cytogenetic band:  2p23.3   HGNC cytogenetic band: 2p23.3-p23.2

EMILIN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EMILIN1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P027301:  view genomic region     (about GC identifiers)

Start:
27,301,435 bp from pter      End:
27,309,271 bp from pter
Size:
7,837 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: EMIL1_HUMAN, Q9Y6C2 (See protein sequence)
Recommended Name: EMILIN-1 precursor  
Size: 1016 amino acids; 106667 Da
Subunit: 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
Subcellular location: Secreted, extracellular space, extracellular matrix. Note=Found mainly at the interface
between amorphous elastin and microfibrils
Miscellaneous: Its deposition precedes the appearance of elastin and is simultaneous with that of fibrillin 1
2 PDB 3D structures from and Proteopedia for EMILIN1:
2KA3 (3D)        2OII (3D)    
Secondary accessions: A5PL03 Q53SY9 Q96G58 Q9UG76

Explore the universe of human proteins at neXtProt for EMILIN1: NX_Q9Y6C2

Explore proteomics data for EMILIN1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y6C2

  • EMILIN1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EMILIN1 Protein Expression
    REFSEQ proteins: NP_008977.1  
    ENSEMBL proteins: 
     ENSP00000369677   ENSP00000411201  
    Reactome Protein details: Q9Y6C2
    Human Recombinant Protein Products for EMILIN1: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EMILIN1 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix ----
    GO:0005581collagen IEA--
    GO:0031012colocalizes with extracellular matrix IDA--
    GO:0070062extracellular vesicular exosome IDA--

    EMILIN1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    EMID: EMI domain containing

    4 InterPro protein domains:
     IPR011489 EMI_domain
     IPR008983 Tumour_necrosis_fac-like_dom
     IPR008160 Collagen
     IPR001073 C1q

    Graphical View of Domain Structure for InterPro Entry Q9Y6C2

    ProtoNet protein and cluster: Q9Y6C2

    3 Blocks protein domains:
    IPB001073 Complement C1q protein
    IPB008160 Collagen triple helix repeat
    IPB011489 EMI


    UniProtKB/Swiss-Prot: EMIL1_HUMAN, Q9Y6C2
    Similarity: Contains 1 C1q domain
    Similarity: Contains 1 collagen-like domain
    Similarity: Contains 1 EMI domain


    EMILIN1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EMIL1_HUMAN, Q9Y6C2
    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): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11278945
    GO:0030023extracellular matrix constituent conferring elasticity IEA--
    GO:0042802identical protein binding IEA--
         
    EMILIN1 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Emilin1):
     cardiovascular system  integument 

    EMILIN1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for EMILIN1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EMILIN1 
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for EMILIN1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Elastic fibre formation
    Molecules associated with elastic fibres0.84
    Elastic fibre formation0.84
    2Collagen biosynthesis and modifying enzymes
    Extracellular matrix organization0.39

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    3        Reactome Pathways for EMILIN1
        Molecules associated with elastic fibres
    Extracellular matrix organization
    Elastic fibre formation



    EMILIN1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for EMILIN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5/10 Interacting proteins for EMILIN1 (Q9Y6C22, 3 ENSP000003696774) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ITGB1P055562, 3, ENSP000003640944MINT-49864 I2D: score=1 STRING: ENSP00000364094
    NMIQ132873, ENSP000002433464I2D: score=3 STRING: ENSP00000243346
    MTMR9Q96QG73, ENSP000002210864I2D: score=4 STRING: ENSP00000221086
    EMILIN2Q9BXX03, ENSP000002545284I2D: score=2 STRING: ENSP00000254528
    EMILIN1Q9Y6C22MINT-49969
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--
    GO:0010811positive regulation of cell-substrate adhesion IEA--
    GO:0030198extracellular matrix organization TAS--

    EMILIN1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    EMILIN1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for EMILIN1 (EMIL1)

    1 Novoseek inferred chemical compound relationship for EMILIN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leucine 26.9 1 10358019 (1)

    Search CenterWatch for drugs/clinical trials and news about EMILIN1 / EMIL1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for EMILIN1 gene: 
    NM_007046.3  

    Unigene Cluster for EMILIN1:

    Elastin microfibril interfacer 1
    Hs.63348  [show with all ESTs]
    Unigene Representative Sequence: NM_007046
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380320(uc010eyq.2 uc002rii.4) ENST00000433140(uc002rik.4)

    miRNA
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    hsa-miR-511
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    Inhib. RNA
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    Additional mRNA sequence: 

    AF088916.1 AK075517.1 AK307539.1 AL050138.1 BC009947.2 BC017284.2 BC090957.1 BC136279.1 
    BC142638.1 BC142688.1 

    8 DOTS entries:

    DT.454914  DT.100664841  DT.100775438  DT.100775440  DT.100016196  DT.92401966  DT.95375563  DT.92432369 

    24/236 AceView cDNA sequences (see all 236):

    AI611291 BF939318 BU626167 CR590183 BC017284 BQ019395 BQ773844 BQ771829 
    AI284577 BF590996 AI991492 AI277535 AW082500 BM705360 AI491938 AI659290 
    AI591068 BQ028992 BU682193 AL050138 BQ448121 AI470945 BQ447966 AI758252 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for EMILIN1    About this scheme

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


    ECgene alternative splicing isoforms for EMILIN1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    EMILIN1 expression in normal human tissues (normalized intensities)      EMILIN1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    EMILIN1 Expression
    About this image


    EMILIN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/18 selected tissues (see all 18) fully expand
     
     Kidney (Urinary System)    fully expand to see all 10 entries
             Metanephros
             visceral organ/metanephros/pelvis   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 7 entries
             Ureter
             visceral organ/bladder   
     
     Mesoderm (Gastrulation Derivatives)    fully expand to see all 3 entries
             PureStem 7SMOO32, NCr-fac & Meso Progenitor
             mesenchyme/trunk mesenchyme/body-wall mesenchyme   
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 3 entries
             PureStem SK11, NCr-fac & Meso-prx Progenitor
             mesenchyme   
     
     Smooth Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             smooth muscle ; smooth muscle cells   

    See EMILIN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EMILIN1

    SOURCE GeneReport for Unigene cluster: Hs.63348

    UniProtKB/Swiss-Prot: EMIL1_HUMAN, Q9Y6C2
    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

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EMILIN1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for EMILIN1 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Emilin11 , 5 elastin microfibril interfacer 11, 5 84.07(n)1
    86.97(a)1
      5 (16.90 cM)5
    1009521  NM_133918.21  NP_598679.11 
     309134025 
    lizard
    (Anolis carolinensis)
    Reptilia EMILIN16
    Uncharacterized protein
    47(a)
    1 ↔ 1
    GL344066.1(57519-81489)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.18812 Xenopus laevis transcribed sequence with weak similarity more 71.88(n)    CF285814.1 
    zebrafish
    (Danio rerio)
    Actinopterygii emilin1a1 elastin microfibril interfacer 1a 51.57(n)
    40.49(a)
      566473  NM_001030207.1  NP_001025378.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EMILIN1 gene
    EMILIN22  EMID12  EMILIN32  COL26A12  

    EMILIN1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for EMILIN1
    PGOHUM00000234364


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/235 SNPs in EMILIN1 are shown (see all 235)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0460954
    ----see VAR_0460952 Q R mis40--------
    VAR_0460974
    ----see VAR_0460972 E K mis40--------
    rs1433453441,2
    --27041602(+) CATTGC/TCTGTG 1 -- us2k10--------
    rs1158523971,2
    F--27041606(+) GCCTGT/CGTTCT 1 -- us2k11Minor allele frequency- C:0.02WA 118
    rs1483634851,2
    --27041687(+) TTGCAA/GTACAA 1 -- us2k10--------
    rs1432023131,2
    --27041736(+) CACAAC/TCTACC 1 -- us2k10--------
    rs37547341,2
    C,F,H--27041747(+) TCTCTT/GAATTT 1 -- us2k126Minor allele frequency- G:0.47NS EA NA WA CSA 2772
    rs759259421,2
    F--27041808(+) TTTACC/TATTTG 1 -- us2k12Minor allele frequency- T:0.02WA NA 238
    rs1930724101,2
    --27041851(+) TGACTG/TACTTA 1 -- us2k10--------
    rs1852731451,2
    --27041926(+) ACCGCC/TCTTCC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for EMILIN1 (27301435 - 27309271 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for EMILIN1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv833603CNV Loss17160897
    nsv873752CNV Loss21882294
    nsv455974CNV Loss19166990
    nsv817673CNV Gain17921354

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 130660    OMIM disorders: --

    14 diseases for EMILIN1:    About MalaCards
    spastic hemiplegia    keshan disease    central retinal artery occlusion    trigeminal neuralgia
    hypoplastic left heart syndrome    hemiplegia    retinal artery occlusion    lymphedema
    essential hypertension    spasticity    retinitis    periodontitis
    hypertension    prostatitis


    EMILIN1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): EMILIN1
    Human Genome Epidemiology (HuGE) Navigator: EMILIN1 (3 documents)

    Export disorders for EMILIN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for EMILIN1 gene, integrated from 9 sources (see all 43):
    (articles sorted by number of sources associating them with EMILIN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. EMILIN, a component of the elastic fiber and a new member of the C1q/tumor necrosis factor superfamily of proteins. (PubMed id 10358019)1, 2, 9 Doliana R.... Colombatti A. (1999)
    2. Association study of the elastin microfibril interfac er 1 (EMILIN1) gene in essential hypertension. (PubMed id 20186130)1, 4, 9 Shimodaira M....Matsumoto K. (2010)
    3. Structure, chromosomal localization, and promoter analysis of the human elastin microfibril interface located protein (EMILIN) gene. (PubMed id 10625608)1, 2, 9 Doliana R....Colombatti A. (2000)
    4. NMR-based homology model for the solution structure of the C-terminal globular domain of EMILIN1. (PubMed id 19023665)1, 2 Verdone G.... Esposito G. (2009)
    5. Emilin1 gene and essential hypertension: a two-stage association study in northern Han Chinese population. (PubMed id 19922630)1, 4 Shen C....Gu D. (2009)
    6. Candidate gene analysis in primary lymphedema. (PubMed id 18564921)1, 4 Ferrell R.E....Finegold D.N. (2008)
    7. Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach. (PubMed id 16263699)1, 2 Lewandrowski U.... Sickmann A. (2006)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Isolation and characterization of EMILIN-2, a new component of the growing EMILINs family and a member of the EMI domain-containing superfamily. (PubMed id 11278945)1, 2 Doliana R....Colombatti A. (2001)
    10. beta 1 Integrin-dependent cell adhesion to EMILIN-1 is mediated by the gC1q domain. (PubMed id 12456677)1, 9 Spessotto P....Colombatti A. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 11117 HGNC: 19880 AceView: EMILIN1 Ensembl:ENSG00000138080 euGenes: HUgn11117
    ECgene: EMILIN1 H-InvDB: EMILIN1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for EMILIN1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for EMILIN1 gene:
    Search GeneIP for patents involving EMILIN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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