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EML1 Gene

protein-coding   GIFtS: 56
GCID: GC14P100259

Echinoderm Microtubule Associated Protein Like 1


(Previous symbol: EMAPL)
  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)
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Aliases
Echinoderm Microtubule Associated Protein Like 11 2     Echinoderm Microtubule-Associated Protein-Like 12
EMAPL1 2 3 5     huEMAP-12
EMAP-12 3     EMAP13
EMAP2 5     EMAPL13
ELP792     HuEMAP-13
HuEMAP2     

External Ids:    HGNC: 33301   Entrez Gene: 20092   Ensembl: ENSG000000666297   OMIM: 6020335   UniProtKB: O004233   

Export aliases for EML1 gene to outside databases

Previous GC identifers: GC14P097771 GC14P094075 GC14P098249 GC14P098231 GC14P099329 GC14P080500


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for EML1 Gene:
Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene.
Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa,
and vestibular dysfunction of variable onset and severity depending on the genetic type. The disease process in
USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs
are catagorized as type I (USH1A, USH1B, USH1C, USH1D, USH1E and USH1F), type II (USH2A and USH2B) and type III
(USH3). The type I is the most severe form. Gene loci responsible for these three types are all mapped. Two
transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for EML1 Gene:
EML1 (echinoderm microtubule associated protein like 1) is a protein-coding gene. Diseases associated with EML1 include imerslund-grasbeck syndrome, and usher syndrome type i. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is EML3.

UniProtKB/Swiss-Prot: EMAL1_HUMAN, O00423
Function: May modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more
dynamic (By similarity)

Gene Wiki entry for EML1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000014.9  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the EML1 gene promoter:
         MEF-2A   AML1a   MEF-2   FOXO1a   STAT5A   Msx-1   aMEF-2   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): EML1 promoter sequence
   Search Chromatin IP Primers for EML1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EML1


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

Entrez Gene cytogenetic band: 14q32   Ensembl cytogenetic band:  14q32.2   HGNC cytogenetic band: 14q32

EML1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EML1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P100259:  view genomic region     (about GC identifiers)

Start:
100,204,030 bp from pter      End:
100,408,397 bp from pter
Size:
204,368 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: EMAL1_HUMAN, O00423 (See protein sequence)
Recommended Name: Echinoderm microtubule-associated protein-like 1  
Size: 815 amino acids; 89861 Da
Sequence caution: Sequence=AAB57824.1; Type=Frameshift; Positions=168, 392, 405, 414, 420; Sequence=CAD62313.1;
Type=Erroneous initiation;
Secondary accessions: Q86U15 Q8N536 Q8N5C4 Q8WWL6
Alternative splicing: 2 isoforms:  O00423-1   O00423-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for EML1: NX_O00423

Explore proteomics data for EML1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See EML1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001008707.1  NP_004425.2  

    ENSEMBL proteins: 
     ENSP00000451346   ENSP00000452160   ENSP00000327384   ENSP00000451991   ENSP00000451669  
     ENSP00000262233   ENSP00000334314   ENSP00000451269   ENSP00000452089   ENSP00000452292  
     ENSP00000451805   ENSP00000452063   ENSP00000451706   ENSP00000452474   ENSP00000451288  

    EML1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for EML1
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    Novus Biologicals EML1 Proteins
    Novus Biologicals EML1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EML1

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    EML1 Assay Products:

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    Cloud-Clone Corp. CLIAs for EML1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    WDR: WD repeat domain containing

    5 InterPro protein domains:
     IPR005108 HELP
     IPR001680 WD40_repeat
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom
     IPR011047 Quinonprotein_ADH-like_supfam

    Graphical View of Domain Structure for InterPro Entry O00423

    ProtoNet protein and cluster: O00423

    2 Blocks protein domains:
    IPB001680 G-protein beta WD-40 repeat signature
    IPB005108 HELP domain


    UniProtKB/Swiss-Prot: EMAL1_HUMAN, O00423
    Similarity: Belongs to the WD repeat EMAP family
    Similarity: Contains 11 WD repeats


    EML1 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EMAL1_HUMAN, O00423
    Function: May modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more
    dynamic (By similarity)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding NAS9226380
    GO:0005515protein binding IPI16189514
         
    EML1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EML1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EML1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EML1

    miRNA
    Products:
        
    miRTarBase miRNAs that target EML1:
    hsa-mir-27b-3p (MIRT046216), hsa-mir-124-3p (MIRT023114), hsa-mir-192-5p (MIRT026844), hsa-mir-215-5p (MIRT024499), hsa-mir-1229-3p (MIRT036360)

    Block miRNA regulation of human, mouse, rat EML1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate EML1 (see all 44):
    hsa-miR-300 hsa-miR-376b hsa-miR-128 hsa-miR-30d hsa-miR-138-2* hsa-miR-3142 hsa-miR-890 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidEML1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for EML1
    Predesigned siRNA for gene silencing in human, mouse, rat EML1

    Gene Editing
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    OriGene clones in human, mouse for EML1 (see all 14)
    OriGene ORF clones in mouse, rat for EML1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): EML1 (NM_004434)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EML1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EML1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for EML1
    Browse ESI BIO Cell Lines and PureStem Progenitors for EML1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EML1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    EMAL1_HUMAN, O00423: Cytoplasm, cytoskeleton (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    nucleus3
    cytosol2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005874microtubule IEA--
    GO:0005875microtubule associated complex TAS9226380

    EML1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EML1
    Interactions:

        GeneGlobe Interaction Network for EML1

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

    Selected Interacting proteins for EML1 (O004231, 2, 3 ENSP000003343144) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ISG20L2Q9H9L31, 2, 3, ENSP000003234244EBI-751327,EBI-751335 MINT-68093 I2D: score=5 STRING: ENSP00000323424
    GRID2O434243, ENSP000002820204I2D: score=1 STRING: ENSP00000282020
    MYF5P133493I2D: score=3 
    EIF3BP558843I2D: score=2 
    ZMYM3Q142023I2D: score=2 
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for EML1 (EMAL1)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for EML1 gene (2 alternative transcripts): 
    NM_001008707.1  NM_004434.2  

    Unigene Cluster for EML1:

    Echinoderm microtubule associated protein like 1
    Hs.12451  [show with all ESTs]
    Unigene Representative Sequence: NM_001008707
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000554479(uc010avt.1) ENST00000555145 ENST00000327921 ENST00000556199
    ENST00000556835 ENST00000262233(uc010tww.2 uc001ygr.3 uc001ygs.3)
    ENST00000334192(uc001ygq.3) ENST00000555096 ENST00000556714 ENST00000553720
    ENST00000556947 ENST00000556758 ENST00000557741 ENST00000555277 ENST00000554553
    ENST00000554386 ENST00000555812 ENST00000554111
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat EML1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate EML1 (see all 44):
    hsa-miR-300 hsa-miR-376b hsa-miR-128 hsa-miR-30d hsa-miR-138-2* hsa-miR-3142 hsa-miR-890 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidEML1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for EML1
    Predesigned siRNA for gene silencing in human, mouse, rat EML1
    Clone
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    OriGene clones in human, mouse for EML1 (see all 14)
    OriGene ORF clones in mouse, rat for EML1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): EML1 (NM_004434)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EML1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EML1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for EML1
    OriGene qSTAR qPCR primer pairs in human, mouse for EML1
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat EML1
      QuantiTect SYBR Green Assays in human, mouse, rat EML1
      QuantiFast Probe-based Assays in human, mouse, rat EML1

    Additional mRNA sequence: 

    AF035276.1 AK023861.1 AK126980.1 AK299812.1 AK307925.1 BC032541.1 BC033043.1 BX247979.1 
    U97018.1 

    11 DOTS entries:

    DT.91785976  DT.100020522  DT.100782943  DT.120776310  DT.92016515  DT.100650978  DT.100676778  DT.100685075 
    DT.101972015  DT.120776203  DT.120776299 

    Selected AceView cDNA sequences (see all 101):

    AI021904 BI963037 AF035276 AI360823 BF477433 BX442035 BU632854 BX450727 
    AL041589 F13343 BQ015215 CK903570 AI146594 BQ880811 BM737923 AI422879 
    BI962910 BQ230724 AA447196 AI825937 BQ775701 BQ018698 BQ015022 AA133860 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for EML1 (see all 9)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
    SP1:              -     -                                               -     -           -                                                                     
    SP2:              -     -                             -                 -     -           -                                                                     
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:        -     -     -                             -                                                                                                         

    ExUns: 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29a · 29b · 29c
    SP1:                    -                                       
    SP2:                    -                                       
    SP3:                                                            
    SP4:                                                            
    SP5:                                                            


    ECgene alternative splicing isoforms for EML1

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    EML1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATTATTGAA
    EML1 Expression
    About this image

    EML1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EML1 Protein Expression

    Genevestigator expression for EML1

    SOURCE GeneReport for Unigene cluster: Hs.12451

    UniProtKB/Swiss-Prot: EMAL1_HUMAN, O00423
    Tissue specificity: Ubiquitous; expressed in most tissues with the exception of thymus and peripheral blood
    lymphocytes

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    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat EML1
    QuantiTect SYBR Green Assays in human, mouse, rat EML1
    QuantiFast Probe-based Assays in human, mouse, rat EML1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EML1

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for EML1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Eml11 , 5 echinoderm microtubule associated protein like 11, 5 86.65(n)1
    96.19(a)1
      12 (59.46 cM)5
    685191  NM_001043335.11  NP_001036800.11 
     1083709575 
    chicken
    (Gallus gallus)
    Aves EML11 echinoderm microtubule associated protein like 1 83.29(n)
    92.19(a)
      423452  XM_004936307.1  XP_004936364.1 
    lizard
    (Anolis carolinensis)
    Reptilia EML16
    echinoderm microtubule associated protein like 1
    88(a)
    1 ↔ 1
    GL343270.1(1263774-1325445)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004953181 echinoderm microtubule-associated protein-like 1-like 77.18(n)
    84.96(a)
      100495318  XM_002936583.2  XP_002936629.1 
    zebrafish
    (Danio rerio)
    Actinopterygii eml11 echinoderm microtubule associated protein like 1 74.33(n)
    79.34(a)
      767643  NM_001193598.1  NP_001180527.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG134663 microtubule-based process microtubule
    binding
    37(a)   71A2   --
    worm
    (Caenorhabditis elegans)
    Secernentea elp-13 WD domain, G-beta repeat 27(a)   V(20757166-20762289)   --


    ENSEMBL Gene Tree for EML1 (if available)
    TreeFam Gene Tree for EML1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EML1 gene
    EML32  EML52  EML22  EML62  EML42  
    7 SIMAP similar genes for EML1 using alignment to 14 protein entries:     EMAL1_HUMAN (see all proteins):
    EML2    EML4    EML4-ALK    EML3    EML4-ALK variant 7    EML4-ALK variant 6
    EML5

    EML1 for paralogs           About GeneDecksing



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for EML1 (see all 3175)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1853590721,2
    --100257772(+) TCCTTC/TGTCAA 2 -- us2k10--------
    rs1889710931,2
    --100257800(+) TGTCCA/GATTTT 2 -- us2k10--------
    rs570361761,2
    C,F--100257802(+) TCCGAT/CTTTCT 2 -- us2k13Minor allele frequency- C:0.14CSA WA NA 240
    rs733545301,2
    C,F--100257866(+) CTCAAT/CTCTTT 2 -- us2k15Minor allele frequency- C:0.14WA NA EA 362
    rs1814167181,2
    --100257934(+) TCCTGC/TCTTTC 2 -- us2k10--------
    rs1168696551,2
    C,F--100258000(+) TGGAGC/TACTGC 2 -- us2k11Minor allele frequency- T:0.03NA 120
    rs740847421,2
    C--100258038(+) GCCGCG/AGCCCC 2 -- us2k12Minor allele frequency- A:0.04WA 120
    rs1449302671,2
    --100258055(+) CCAGTC/TGGCAG 2 -- us2k10--------
    rs1172619241,2
    F--100258094(+) AACAGT/CGGCCT 2 -- us2k11Minor allele frequency- C:0.01NA 120
    rs1855570321,2
    --100258115(+) ACCCTA/CCAAGC 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for EML1 (100204030 - 100408397 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for EML1 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2667613CNV Deletion23128226
    esv2605680CNV Insertion19546169
    nsv513419CNV Insertion21212237
    esv2435902CNV Insertion19546169
    esv29292CNV Loss19812545
    nsv524048CNV Loss19592680
    nsv524475CNV Loss19592680
    esv23688CNV Loss19812545
    nsv520997CNV Loss19592680
    nsv527865CNV Loss19592680

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 602033    OMIM disorders: --

    8 diseases for EML1:    About MalaCards
    imerslund-grasbeck syndrome    usher syndrome type i    usher syndrome    retinitis pigmentosa
    retinitis    pancreatic ductal adenocarcinoma    adenocarcinoma    pancreatitis

    1 disease from the University of Copenhagen DISEASES database for EML1:
    Pancreatic ductal adenocarcinoma

    EML1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for EML1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    usher syndrome 74.7 1 9226380 (1)

    Genetic Association Database (GAD): EML1
    Human Genome Epidemiology (HuGE) Navigator: EML1 (1 document)

    Export disorders for EML1 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

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    PubMed articles for EML1 gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with EML1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequence and expression patterns of a human EMAP-related protein-2 (HuEMAP-2). (PubMed id 10521658)1, 2, 3, 9 Lepley D.M.... Suprenant K.A. (Gene 1999)
    2. Isolation of a novel human homologue of the gene coding for echinoderm microtubule-associated protein (EMAP) from the Usher syndrome type 1a locus at 14q32. (PubMed id 9226380)1, 2, 3, 9 Eudy J.D.... Sumegi J. (Genomics 1997)
    3. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1, 4 He C....Hunter D.J. (Hum. Genet. 2010)
    4. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (Cell 2010)
    5. An empirical framework for binary interactome mapping. (PubMed id 19060904)1 Venkatesan K....Vidal M. (Nat. Methods 2009)
    6. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (Nature 2005)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. Identification of rat EMAP, a delta-glutamate receptor binding protein. (PubMed id 11829466)1 Ly C.D....Wenthold R.J. (Biochem. Biophys. Res. Commun. 2002)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    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

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    Entrez Gene: 2009 HGNC: 3330 AceView: EML1.1 Ensembl:ENSG00000066629 euGenes: HUgn2009
    ECgene: EML1 H-InvDB: EML1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for EML1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for EML1 gene:
    Search GeneIP for patents involving EML1

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



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