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ECEL1 (endothelin converting enzyme-like 1)

Identity

Alias_symbol (synonym)XCE
DINE
Other aliasDA5D
ECEX
HGNC (Hugo) ECEL1
LocusID (NCBI) 9427
Atlas_Id 62711
Location 2q37.1  [Link to chromosome band 2q37]
Location_base_pair Starts at 233344537 and ends at 233352569 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ECEL1 (2q37.1) / RMRP (9p13.3)GIGYF2 (2q37.1) / ECEL1 (2q37.1)

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)ECEL1   3147
Cards
Entrez_Gene (NCBI)ECEL1  9427  endothelin converting enzyme-like 1
AliasesDA5D; DINE; ECEX; XCE
GeneCards (Weizmann)ECEL1
Ensembl hg19 (Hinxton)ENSG00000171551 [Gene_View]  chr2:233344537-233352569 [Contig_View]  ECEL1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000171551 [Gene_View]  chr2:233344537-233352569 [Contig_View]  ECEL1 [Vega]
ICGC DataPortalENSG00000171551
TCGA cBioPortalECEL1
AceView (NCBI)ECEL1
Genatlas (Paris)ECEL1
WikiGenes9427
SOURCE (Princeton)ECEL1
Genetics Home Reference (NIH)ECEL1
Genomic and cartography
GoldenPath hg19 (UCSC)ECEL1  -     chr2:233344537-233352569 -  2q37.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ECEL1  -     2q37.1   [Description]    (hg38-Dec_2013)
EnsemblECEL1 - 2q37.1 [CytoView hg19]  ECEL1 - 2q37.1 [CytoView hg38]
Mapping of homologs : NCBIECEL1 [Mapview hg19]  ECEL1 [Mapview hg38]
OMIM605896   615065   
Gene and transcription
Genbank (Entrez)AB030579 AB073895 AY358923 BC050453 BM564570
RefSeq transcript (Entrez)NM_001290787 NM_004826
RefSeq genomic (Entrez)NC_000002 NC_018913 NG_034065 NT_005403 NW_004929305
Consensus coding sequences : CCDS (NCBI)ECEL1
Cluster EST : UnigeneHs.26880 [ NCBI ]
CGAP (NCI)Hs.26880
Alternative Splicing GalleryENSG00000171551
Gene ExpressionECEL1 [ NCBI-GEO ]   ECEL1 [ EBI - ARRAY_EXPRESS ]   ECEL1 [ SEEK ]   ECEL1 [ MEM ]
Gene Expression Viewer (FireBrowse)ECEL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9427
GTEX Portal (Tissue expression)ECEL1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95672   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95672  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95672
Splice isoforms : SwissVarO95672
Catalytic activity : Enzyme3.4.24.- [ Enzyme-Expasy ]   3.4.24.-3.4.24.- [ IntEnz-EBI ]   3.4.24.- [ BRENDA ]   3.4.24.- [ KEGG ]   
PhosPhoSitePlusO95672
Domaine pattern : Prosite (Expaxy)ZINC_PROTEASE (PS00142)   
Domains : Interpro (EBI)ECEL1    MetalloPept_cat_dom    Peptidase_M13    Peptidase_M13_C    Peptidase_M13_N   
Domain families : Pfam (Sanger)Peptidase_M13 (PF01431)    Peptidase_M13_N (PF05649)   
Domain families : Pfam (NCBI)pfam01431    pfam05649   
Conserved Domain (NCBI)ECEL1
DMDM Disease mutations9427
Blocks (Seattle)ECEL1
SuperfamilyO95672
Human Protein AtlasENSG00000171551
Peptide AtlasO95672
HPRD07066
IPIIPI00006735   IPI00741957   IPI00383967   IPI00917660   
Protein Interaction databases
DIP (DOE-UCLA)O95672
IntAct (EBI)O95672
FunCoupENSG00000171551
BioGRIDECEL1
STRING (EMBL)ECEL1
ZODIACECEL1
Ontologies - Pathways
QuickGOO95672
Ontology : AmiGOrespiratory system process  metalloendopeptidase activity  integral component of plasma membrane  proteolysis  neuropeptide signaling pathway  metallopeptidase activity  metal ion binding  
Ontology : EGO-EBIrespiratory system process  metalloendopeptidase activity  integral component of plasma membrane  proteolysis  neuropeptide signaling pathway  metallopeptidase activity  metal ion binding  
NDEx NetworkECEL1
Atlas of Cancer Signalling NetworkECEL1
Wikipedia pathwaysECEL1
Orthology - Evolution
OrthoDB9427
GeneTree (enSembl)ENSG00000171551
Phylogenetic Trees/Animal Genes : TreeFamECEL1
HOVERGENO95672
HOGENOMO95672
Homologs : HomoloGeneECEL1
Homology/Alignments : Family Browser (UCSC)ECEL1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerECEL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ECEL1
dbVarECEL1
ClinVarECEL1
1000_GenomesECEL1 
Exome Variant ServerECEL1
ExAC (Exome Aggregation Consortium)ECEL1 (select the gene name)
Genetic variants : HAPMAP9427
Genomic Variants (DGV)ECEL1 [DGVbeta]
DECIPHER (Syndromes)2:233344537-233352569  ENSG00000171551
CONAN: Copy Number AnalysisECEL1 
Mutations
ICGC Data PortalECEL1 
TCGA Data PortalECEL1 
Broad Tumor PortalECEL1
OASIS PortalECEL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICECEL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDECEL1
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 ECEL1
DgiDB (Drug Gene Interaction Database)ECEL1
DoCM (Curated mutations)ECEL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ECEL1 (select a term)
intoGenECEL1
Cancer3DECEL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605896    615065   
Orphanet21933   
MedgenECEL1
Genetic Testing Registry ECEL1
NextProtO95672 [Medical]
TSGene9427
GENETestsECEL1
Huge Navigator ECEL1 [HugePedia]
snp3D : Map Gene to Disease9427
BioCentury BCIQECEL1
ClinGenECEL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9427
Chemical/Pharm GKB GenePA27595
Clinical trialECEL1
Miscellaneous
canSAR (ICR)ECEL1 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineECEL1
EVEXECEL1
GoPubMedECEL1
iHOPECEL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:02:28 CET 2017

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