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ELMO1 (engulfment and cell motility 1)

Identity

Alias_namesengulfment and cell motility 1 (ced-12 homolog
Alias_symbol (synonym)KIAA0281
CED12
ELMO-1
CED-12
Other alias
HGNC (Hugo) ELMO1
LocusID (NCBI) 9844
Atlas_Id 52519
Location 7p14.2  [Link to chromosome band 7p14]
Location_base_pair Starts at 36852906 and ends at 36985112 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ELMO1 (7p14.2) / ADAM12 (10q26.2)ELMO1 (7p14.2) / APOL3 (22q12.3)ELMO1 (7p14.2) / ELMO1 (7p14.2)
ELMO1 (7p14.2) / IFT88 (13q12.11)ELMO1 (7p14.2) / RRM2B (8q22.3)ELMO1 (7p14.2) / SCIN (7p21.3)
REPS1 (6q24.1) / ELMO1 (7p14.2)SLCO3A1 (15q26.1) / ELMO1 (7p14.2)TBCC (6p21.1) / ELMO1 (7p14.2)
TNS3 (7p12.3) / ELMO1 (7p14.2)ZNF124 (1q44) / ELMO1 (7p14.2)ZNRF1 (16q23.1) / ELMO1 (7p14.2)
ELMO1 7p14.2 / SCIN 7p21.3TNS3 7p12.3 / ELMO1 7p14.2

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

 


External links

Nomenclature
HGNC (Hugo)ELMO1   16286
Cards
Entrez_Gene (NCBI)ELMO1  9844  engulfment and cell motility 1
AliasesCED-12; CED12; ELMO-1
GeneCards (Weizmann)ELMO1
Ensembl hg19 (Hinxton)ENSG00000155849 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000155849 [Gene_View]  chr7:36852906-36985112 [Contig_View]  ELMO1 [Vega]
ICGC DataPortalENSG00000155849
TCGA cBioPortalELMO1
AceView (NCBI)ELMO1
Genatlas (Paris)ELMO1
WikiGenes9844
SOURCE (Princeton)ELMO1
Genetics Home Reference (NIH)ELMO1
Genomic and cartography
GoldenPath hg38 (UCSC)ELMO1  -     chr7:36852906-36985112 -  7p14.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ELMO1  -     7p14.2   [Description]    (hg19-Feb_2009)
EnsemblELMO1 - 7p14.2 [CytoView hg19]  ELMO1 - 7p14.2 [CytoView hg38]
Mapping of homologs : NCBIELMO1 [Mapview hg19]  ELMO1 [Mapview hg38]
OMIM606420   
Gene and transcription
Genbank (Entrez)AF398885 AK001084 AK126565 AK291784 AK296253
RefSeq transcript (Entrez)NM_001039459 NM_001206480 NM_001206482 NM_014800 NM_130442
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ELMO1
Cluster EST : UnigeneHs.656638 [ NCBI ]
CGAP (NCI)Hs.656638
Alternative Splicing GalleryENSG00000155849
Gene ExpressionELMO1 [ NCBI-GEO ]   ELMO1 [ EBI - ARRAY_EXPRESS ]   ELMO1 [ SEEK ]   ELMO1 [ MEM ]
Gene Expression Viewer (FireBrowse)ELMO1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9844
GTEX Portal (Tissue expression)ELMO1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92556   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92556  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92556
Splice isoforms : SwissVarQ92556
PhosPhoSitePlusQ92556
Domaine pattern : Prosite (Expaxy)ELMO (PS51335)   
Domains : Interpro (EBI)ARM-like    ARM-type_fold    DUF3361    ELMO1    ELMO_dom    PH_dom-like    PH_domain   
Domain families : Pfam (Sanger)DUF3361 (PF11841)    ELMO_CED12 (PF04727)    PH_12 (PF16457)   
Domain families : Pfam (NCBI)pfam11841    pfam04727    pfam16457   
Conserved Domain (NCBI)ELMO1
DMDM Disease mutations9844
Blocks (Seattle)ELMO1
PDB (SRS)2RQR    2VSZ    3A98   
PDB (PDBSum)2RQR    2VSZ    3A98   
PDB (IMB)2RQR    2VSZ    3A98   
PDB (RSDB)2RQR    2VSZ    3A98   
Structural Biology KnowledgeBase2RQR    2VSZ    3A98   
SCOP (Structural Classification of Proteins)2RQR    2VSZ    3A98   
CATH (Classification of proteins structures)2RQR    2VSZ    3A98   
SuperfamilyQ92556
Human Protein AtlasENSG00000155849
Peptide AtlasQ92556
HPRD12102
IPIIPI00219532   IPI00745455   IPI00022004   IPI01014405   IPI00909736   IPI00925277   IPI00925487   IPI00925769   IPI00927836   IPI00924562   IPI00924835   IPI00925087   
Protein Interaction databases
DIP (DOE-UCLA)Q92556
IntAct (EBI)Q92556
FunCoupENSG00000155849
BioGRIDELMO1
STRING (EMBL)ELMO1
ZODIACELMO1
Ontologies - Pathways
QuickGOQ92556
Ontology : AmiGOguanyl-nucleotide exchange factor activity  protein binding  cytoplasm  cytosol  plasma membrane  phagocytosis, engulfment  apoptotic process  membrane  cell migration  Rac protein signal transduction  SH3 domain binding  actin cytoskeleton organization  guanyl-nucleotide exchange factor complex  Fc-gamma receptor signaling pathway involved in phagocytosis  positive regulation of GTPase activity  vascular endothelial growth factor receptor signaling pathway  cell motility  regulation of defense response to virus by virus  
Ontology : EGO-EBIguanyl-nucleotide exchange factor activity  protein binding  cytoplasm  cytosol  plasma membrane  phagocytosis, engulfment  apoptotic process  membrane  cell migration  Rac protein signal transduction  SH3 domain binding  actin cytoskeleton organization  guanyl-nucleotide exchange factor complex  Fc-gamma receptor signaling pathway involved in phagocytosis  positive regulation of GTPase activity  vascular endothelial growth factor receptor signaling pathway  cell motility  regulation of defense response to virus by virus  
Pathways : KEGGChemokine signaling pathway    Bacterial invasion of epithelial cells    Shigellosis   
NDEx NetworkELMO1
Atlas of Cancer Signalling NetworkELMO1
Wikipedia pathwaysELMO1
Orthology - Evolution
OrthoDB9844
GeneTree (enSembl)ENSG00000155849
Phylogenetic Trees/Animal Genes : TreeFamELMO1
HOVERGENQ92556
HOGENOMQ92556
Homologs : HomoloGeneELMO1
Homology/Alignments : Family Browser (UCSC)ELMO1
Gene fusions - Rearrangements
Fusion : MitelmanELMO1/SCIN [7p14.2/7p21.3]  
Fusion : MitelmanSLCO3A1/ELMO1 [15q26.1/7p14.2]  [t(7;15)(p14;q26)]  
Fusion : MitelmanTNS3/ELMO1 [7p12.3/7p14.2]  [t(7;7)(p12;p14)]  
Fusion: TCGAELMO1 7p14.2 SCIN 7p21.3 LUSC
Fusion: TCGATNS3 7p12.3 ELMO1 7p14.2 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerELMO1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ELMO1
dbVarELMO1
ClinVarELMO1
1000_GenomesELMO1 
Exome Variant ServerELMO1
ExAC (Exome Aggregation Consortium)ELMO1 (select the gene name)
Genetic variants : HAPMAP9844
Genomic Variants (DGV)ELMO1 [DGVbeta]
DECIPHERELMO1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisELMO1 
Mutations
ICGC Data PortalELMO1 
TCGA Data PortalELMO1 
Broad Tumor PortalELMO1
OASIS PortalELMO1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICELMO1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDELMO1
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 ELMO1
DgiDB (Drug Gene Interaction Database)ELMO1
DoCM (Curated mutations)ELMO1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ELMO1 (select a term)
intoGenELMO1
Cancer3DELMO1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606420   
Orphanet
MedgenELMO1
Genetic Testing Registry ELMO1
NextProtQ92556 [Medical]
TSGene9844
GENETestsELMO1
Target ValidationELMO1
Huge Navigator ELMO1 [HugePedia]
snp3D : Map Gene to Disease9844
BioCentury BCIQELMO1
ClinGenELMO1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9844
Chemical/Pharm GKB GenePA27754
Clinical trialELMO1
Miscellaneous
canSAR (ICR)ELMO1 (select the gene name)
Probes
Litterature
PubMed75 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineELMO1
EVEXELMO1
GoPubMedELMO1
iHOPELMO1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:00:22 CEST 2017

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