Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

EMILIN1 Gene

protein-coding   GIFtS: 53
GCID: GC02P027301

elastin microfibril interfacer 1
 Explore 14 diseases affiliated with
EMILIN1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for EMILIN1    

Aliases
for EMILIN1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Elastin Microfibril Interfacer 11 2 3     EMILIN2 5
Gp1151     DKFZp586M1211
Elastin Microfibril Interface-Located Protein 12 3     EMILIN-12
EMI2 3     Elastin Microfibril Interface Located Protein2

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


Summaries
for EMILIN1 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  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 plasmid: EMILIN1 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

Proteins
for EMILIN1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y6C2

    • EMILIN1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_008977.1  
    ENSEMBL proteins: 
     ENSP00000369677   ENSP00000411201  
    Reactome Protein details: Q9Y6C2
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom Protein Services for EMILIN1 
    GenScript Custom Purified and Recombinant Proteins Services for EMILIN1
    Novus Biologicals EMILIN1 Protein
    Novus Biologicals EMILIN1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for EMILIN1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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


    EMILIN1 for ontologies           About GeneDecksing



    EMILIN1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for EMILIN1 
    GenScript Custom Superior Antibodies Services for EMILIN1
    Novus Biologicals EMILIN1 Antibodies
    Search for Antibodies for EMILIN1 at Abcam  
    Uscn Antibodies for EMILIN1
    ThermoFisher Antibodies for EMILIN1

    Assay Products for EMILIN1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for EMILIN1
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for EMILIN1

    Protein Domains /
    Families
    for EMILIN1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    EMILIN1 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 families:
    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


    Function
    for EMILIN1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: EMILIN1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EMILIN1
    1 QIAGEN miScript miRNA Assays for microRNA that regulate EMILIN1:
    hsa-miR-511
    SwitchGear 3'UTR luciferase reporter plasmid: EMILIN1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EMILIN1 (see all 7)
    OriGene siRNA: EMILIN1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EMILIN1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for EMILIN1

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EMILIN1 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EMILIN1
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: EMILIN1 (NM_007046)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EMILIN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EMILIN1 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for EMILIN1
    Search LifeMap BioReagents cell lines for EMILIN1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EMILIN1

    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


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

    EMILIN1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for EMILIN1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Elastic fibre formation
    		Elastic fibre formation1.00
    		Molecules associated with elastic fibres0.84
    2Collagen formation
    		Extracellular matrix organization0.54

    Pathway sources
    See GeneCards unified pathways
    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 IEA--


    EMILIN1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for EMILIN1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    1 Novoseek 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 

    Transcripts
    for EMILIN1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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
    Products:             		 OriGene 3'-UTR Clone: EMILIN1
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EMILIN1
    1 QIAGEN miScript miRNA Assays for microRNA that regulate EMILIN1:
    hsa-miR-511
    SwitchGear 3'UTR luciferase reporter plasmid: EMILIN1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EMILIN1 (see all 7)
    OriGene siRNA: EMILIN1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EMILIN1
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EMILIN1 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EMILIN1
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: EMILIN1 (NM_007046)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EMILIN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EMILIN1 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for EMILIN1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat EMILIN1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EMILIN1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EMILIN1

    Additional cDNA 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.92432369  DT.95375563 

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

    BQ771829 AI284577 AK075517 BU742255 BC007530 BU682193 AI920932 BU680814 
    AI611291 AI225080 AI424943 AI591068 AL042014 BE047763 AI659290 AW513225 
    BF590996 BQ448121 AI400351 BM725902 AI758252 BU683696 BC017284 BF434074 

    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

    Expression
    for EMILIN1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    EMILIN1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    6 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyGlomerular TuftKidney
    KidneyGlomerulusKidney
    KidneyInterstitial StromaKidney
    KidneyMetanephrosKidney
    Lower Urinary TractUreterLower Urinary Tract
    Reproductive SystemMesonephrosReproductive System
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor SM22 (Embryonic Progenitor Cell)

    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

        SABiosciences Custom PCR Arrays for EMILIN1
    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for EMILIN1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat EMILIN1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EMILIN1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EMILIN1
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EMILIN1

    Orthologs
    for EMILIN1 gene

    (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 3/11 species (see all 11)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia EMILIN16
    		 --
    		 46(a)
    		 1 ↔ 1
    		 GL344066.1(57549-81489)
    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
    for EMILIN1 gene

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

    EMILIN1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for EMILIN1
    PGOHUM00000234364


    Genomic Variants
    for EMILIN1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    8 NCBI SNPs in EMILIN1 are shown     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs744646461,2
    		F,--27046871(+) TATATG/CATGGG 1 -- int11Minor allele frequency- C:0.02NA 120
    rs344878491,2
    		C,F,--27048186(-) TCCAGC/TGTGGC 2 T syn12Minor allele frequency- T:0.00NA 4272
    rs739214501,2
    		C--27048898(+) CCACCG/AGCCAG 2 /S /G mis11Minor allele frequency- A:0.50WA 2
    rs353742351,2
    		----27047500(+) CTGCT-/ACCGTG 2 S YR fra10--------
    rs74245561,2
    		----27049751(+) ATTAGC/GAGGCT 1 -- int10--------
    rs115486831,2
    		----27048300(+) GGCCAA/GCTGGA 2 Q syn1 ese30--------
    rs2012329771,2
    		----27048716(+) CTTCCA/GAGGCC 2 Q R mis10--------
    rs577283741,2
    		----27047163(+) ACCAAG/TGAGCT 2 K N mis10--------

    HapMap Linkage Disequilibrium report for EMILIN1 (27301435 - 27309271 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for EMILIN1
         1 CNV: 9399

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing EMILIN1
    DNA2.0 Custom Variant and Variant Library Synthesis for EMILIN1

    Disorders / Diseases
    for EMILIN1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    EMILIN1 for disorders           About GeneDecksing

    OMIM gene information: 130660    OMIM disorders: --

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

    1 disease from the University of Copenhagen DISEASES database for EMILIN1:
    Keshan disease
    Human Genome Epidemiology (HuGE) Navigator: EMILIN1 (3 documents)

    Export disorders for EMILIN1 gene to outside databases

    Publications
    for EMILIN1 gene

    (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 42):
    (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. 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)
    3. 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)
    4. Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach. (PubMed id 16263699)1, 2 Lewandrowski U.... Sickmann A. (2006)
    5. 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)
    6. 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)
    7. 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)
    8. EMILIN-1 deficiency induces elastogenesis and vascular cell defects. (PubMed id 14701737)1, 9 Zanetti M....Bressan G.M. (2004)
    9. Self-assembly and supramolecular organization of EMILIN. (PubMed id 10821830)1, 9 Mongiat M....Colombatti A. (2000)
    10. Elastic fiber proteins in the glomerular mesangium in vivo and in cell culture. (PubMed id 11012893)1, 9 Sterzel R.B....Bressan G.M. (2000)

    External Searches for EMILIN1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing EMILIN1 gene

    (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

    Other Databases showing EMILIN1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing EMILIN1 gene

    (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

    Intellectual Property
    for EMILIN1 gene

    (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



    Products
    for EMILIN1 gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   Browse OriGene shRNA RFPs  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EMILIN1   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for EMILIN1  
     Browse OriGene Protein Over-expression Lysates   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for EMILIN1   OriGene 3'-UTR Clone for EMILIN1  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EMILIN1   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EMILIN1  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for EMILIN1   OriGene Custom Protein Services for EMILIN1  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat EMILIN1
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing EMILIN1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EMILIN1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EMILIN1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EMILIN1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EMILIN1
     GenScript Custom Purified and Recombinant Proteins Services for EMILIN1 GenScript cDNA clones with any tag delivered in your preferred vector for EMILIN1
     GenScript Custom Assay Services for EMILIN1 GenScript Custom Superior Antibodies Services for EMILIN1
     GenScript Custom overexpressing Cell Line Services for EMILIN1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in EMILIN1 promoter
     Search Chromatin IP Primers for EMILIN1
     RT2 qPCR Primer Assay in human, mouse, rat EMILIN1
     Search GNC Networks for EMILIN1
     SABiosciences Custom PCR Arrays for EMILIN1
     Search Tocris compounds for EMILIN1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     EMILIN1 antibodies
     EMILIN1 proteins
     EMILIN1 lysates
     Search for Antibodies for EMILIN1 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for EMILIN1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     EMILIN1 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for EMILIN1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EMILIN1
     SwitchGear 3'UTR luciferase reporter plasmids for EMILIN1
     SwitchGear Promoter luciferase reporter plasmids for EMILIN1
     ThermoFisher Antibodies for EMILIN1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EMILIN1
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      EMILIN1 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4