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EML1 (echinoderm microtubule associated protein like 1)

Identity

Other namesELP79
EMAP
EMAPL
HuEMAP
HGNC (Hugo) EML1
LocusID (NCBI) 2009
Atlas_Id 42966
Location 14q32.2
Location_base_pair Starts at 100259745 and ends at 100408395 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ABL1 (9q34.12) / EML1 (14q32.2)CDH5 (16q21) / EML1 (14q32.2)EML1 (14q32.2) / ABL1 (9q34.12)
EML1 (14q32.2) / CCNK (14q32.2)EML1 (14q32.2) / FBLN5 (14q32.12)EVL (14q32.2) / EML1 (14q32.2)
EML1 14q32.2 / CCNK 14q32.2EML1 14q32.2 / FBLN5 14q32.12EVL 14q32.2 / EML1 14q32.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(9;14)(q34;q32) EML1/ABL1
T-lineage acute lymphoblastic leukemia (T-ALL)

External links

Nomenclature
HGNC (Hugo)EML1   3330
Cards
Entrez_Gene (NCBI)EML1  2009  echinoderm microtubule associated protein like 1
AliasesELP79; EMAP; EMAPL; HuEMAP
GeneCards (Weizmann)EML1
Ensembl hg19 (Hinxton)ENSG00000066629 [Gene_View]  chr14:100259745-100408395 [Contig_View]  EML1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000066629 [Gene_View]  chr14:100259745-100408395 [Contig_View]  EML1 [Vega]
ICGC DataPortalENSG00000066629
TCGA cBioPortalEML1
AceView (NCBI)EML1
Genatlas (Paris)EML1
WikiGenes2009
SOURCE (Princeton)EML1
Genomic and cartography
GoldenPath hg19 (UCSC)EML1  -     chr14:100259745-100408395 +  14q32.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EML1  -     14q32.2   [Description]    (hg38-Dec_2013)
EnsemblEML1 - 14q32.2 [CytoView hg19]  EML1 - 14q32.2 [CytoView hg38]
Mapping of homologs : NCBIEML1 [Mapview hg19]  EML1 [Mapview hg38]
OMIM602033   
Gene and transcription
Genbank (Entrez)AF035276 AK023861 AK126980 AK299812 AK307925
RefSeq transcript (Entrez)NM_001008707 NM_004434
RefSeq genomic (Entrez)NC_000014 NC_018925 NT_026437 NW_004929393
Consensus coding sequences : CCDS (NCBI)EML1
Cluster EST : UnigeneHs.12451 [ NCBI ]
CGAP (NCI)Hs.12451
Alternative Splicing GalleryENSG00000066629
Gene ExpressionEML1 [ NCBI-GEO ]   EML1 [ EBI - ARRAY_EXPRESS ]   EML1 [ SEEK ]   EML1 [ MEM ]
Gene Expression Viewer (FireBrowse)EML1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2009
GTEX Portal (Tissue expression)EML1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00423 (Uniprot)
NextProtO00423  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00423
Splice isoforms : SwissVarO00423 (Swissvar)
PhosPhoSitePlusO00423
Domaine pattern : Prosite (Expaxy)WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)HELP    Quinoprotein_ADH-like_supfam    WD40/YVTN_repeat-like_dom    WD40_repeat    WD40_repeat_dom   
Domain families : Pfam (Sanger)HELP (PF03451)    WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam03451    pfam00400   
Domain families : Smart (EMBL)WD40 (SM00320)  
DMDM Disease mutations2009
Blocks (Seattle)EML1
PDB (SRS)4CI8   
PDB (PDBSum)4CI8   
PDB (IMB)4CI8   
PDB (RSDB)4CI8   
Structural Biology KnowledgeBase4CI8   
SCOP (Structural Classification of Proteins)4CI8   
CATH (Classification of proteins structures)4CI8   
SuperfamilyO00423
Human Protein AtlasENSG00000066629
Peptide AtlasO00423
HPRD03613
IPIIPI00334011   IPI00550611   IPI01009898   IPI01024810   IPI01024698   IPI01024859   IPI01026361   IPI01026334   IPI01025998   IPI01026116   IPI01025767   IPI01025860   IPI01025502   IPI01025631   IPI01025232   
Protein Interaction databases
DIP (DOE-UCLA)O00423
IntAct (EBI)O00423
FunCoupENSG00000066629
BioGRIDEML1
STRING (EMBL)EML1
ZODIACEML1
Ontologies - Pathways
QuickGOO00423
Ontology : AmiGOmicrotubule cytoskeleton organization  hematopoietic progenitor cell differentiation  calcium ion binding  protein binding  cytosol  microtubule  microtubule associated complex  mitotic spindle organization  neuroblast proliferation  brain development  brain development  microtubule binding  tubulin binding  perinuclear region of cytoplasm  mitotic spindle pole  mitotic spindle midzone  
Ontology : EGO-EBImicrotubule cytoskeleton organization  hematopoietic progenitor cell differentiation  calcium ion binding  protein binding  cytosol  microtubule  microtubule associated complex  mitotic spindle organization  neuroblast proliferation  brain development  brain development  microtubule binding  tubulin binding  perinuclear region of cytoplasm  mitotic spindle pole  mitotic spindle midzone  
NDEx Network
Atlas of Cancer Signalling NetworkEML1
Wikipedia pathwaysEML1
Orthology - Evolution
OrthoDB2009
GeneTree (enSembl)ENSG00000066629
Phylogenetic Trees/Animal Genes : TreeFamEML1
Homologs : HomoloGeneEML1
Homology/Alignments : Family Browser (UCSC)EML1
Gene fusions - Rearrangements
Fusion: TCGAEML1 14q32.2 CCNK 14q32.2 BRCA
Fusion: TCGAEML1 14q32.2 FBLN5 14q32.12 LGG
Fusion: TCGAEVL 14q32.2 EML1 14q32.2 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerEML1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EML1
dbVarEML1
ClinVarEML1
1000_GenomesEML1 
Exome Variant ServerEML1
ExAC (Exome Aggregation Consortium)EML1 (select the gene name)
Genetic variants : HAPMAP2009
Genomic Variants (DGV)EML1 [DGVbeta]
Mutations
ICGC Data PortalEML1 
TCGA Data PortalEML1 
Broad Tumor PortalEML1
OASIS PortalEML1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEML1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch EML1
DgiDB (Drug Gene Interaction Database)EML1
DoCM (Curated mutations)EML1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EML1 (select a term)
intoGenEML1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)14:100259745-100408395  ENSG00000066629
CONAN: Copy Number AnalysisEML1 
Mutations and Diseases : HGMDEML1
OMIM602033   
MedgenEML1
Genetic Testing Registry EML1
NextProtO00423 [Medical]
TSGene2009
GENETestsEML1
Huge Navigator EML1 [HugePedia]
snp3D : Map Gene to Disease2009
BioCentury BCIQEML1
ClinGenEML1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2009
Chemical/Pharm GKB GenePA27767
Clinical trialEML1
Miscellaneous
canSAR (ICR)EML1 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEML1
EVEXEML1
GoPubMedEML1
iHOPEML1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat May 28 11:01:35 CEST 2016

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