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ECH1 (enoyl CoA hydratase 1, peroxisomal)

Identity

Alias_namesenoyl Coenzyme A hydratase 1, peroxisomal
enoyl-CoA hydratase 1, peroxisomal
Alias_symbol (synonym)HPXEL
Other alias
HGNC (Hugo) ECH1
LocusID (NCBI) 1891
Atlas_Id 62713
Location 19q13.2  [Link to chromosome band 19q13]
Location_base_pair Starts at 39306062 and ends at 39322497 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ECH1 (19q13.2) / ECH1 (19q13.2)ECH1 (19q13.2) / EIF3K (19q13.2)ECH1 (19q13.2) / FTCD (21q22.3)
SAMD4B (19q13.2) / ECH1 (19q13.2)

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)ECH1   3149
Cards
Entrez_Gene (NCBI)ECH1  1891  enoyl CoA hydratase 1, peroxisomal
AliasesHPXEL
GeneCards (Weizmann)ECH1
Ensembl hg19 (Hinxton)ENSG00000104823 [Gene_View]  chr19:39306062-39322497 [Contig_View]  ECH1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000104823 [Gene_View]  chr19:39306062-39322497 [Contig_View]  ECH1 [Vega]
ICGC DataPortalENSG00000104823
TCGA cBioPortalECH1
AceView (NCBI)ECH1
Genatlas (Paris)ECH1
WikiGenes1891
SOURCE (Princeton)ECH1
Genetics Home Reference (NIH)ECH1
Genomic and cartography
GoldenPath hg19 (UCSC)ECH1  -     chr19:39306062-39322497 -  19q13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ECH1  -     19q13.2   [Description]    (hg38-Dec_2013)
EnsemblECH1 - 19q13.2 [CytoView hg19]  ECH1 - 19q13.2 [CytoView hg38]
Mapping of homologs : NCBIECH1 [Mapview hg19]  ECH1 [Mapview hg38]
OMIM600696   
Gene and transcription
Genbank (Entrez)AK126566 AK291860 AK301211 AV738478 BC011792
RefSeq transcript (Entrez)NM_001398
RefSeq genomic (Entrez)NC_000019 NC_018930 NT_011109 NW_004929415
Consensus coding sequences : CCDS (NCBI)ECH1
Cluster EST : UnigeneHs.196176 [ NCBI ]
CGAP (NCI)Hs.196176
Alternative Splicing GalleryENSG00000104823
Gene ExpressionECH1 [ NCBI-GEO ]   ECH1 [ EBI - ARRAY_EXPRESS ]   ECH1 [ SEEK ]   ECH1 [ MEM ]
Gene Expression Viewer (FireBrowse)ECH1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1891
GTEX Portal (Tissue expression)ECH1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13011   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13011  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13011
Splice isoforms : SwissVarQ13011
Catalytic activity : Enzyme5.3.3.- [ Enzyme-Expasy ]   5.3.3.-5.3.3.- [ IntEnz-EBI ]   5.3.3.- [ BRENDA ]   5.3.3.- [ KEGG ]   
PhosPhoSitePlusQ13011
Domaine pattern : Prosite (Expaxy)ENOYL_COA_HYDRATASE (PS00166)   
Domains : Interpro (EBI)ClpP/crotonase-like_dom    Crontonase_C    Crotonase_core_superfam    Enoyl-CoA_hyd/isom_CS   
Domain families : Pfam (Sanger)ECH (PF00378)   
Domain families : Pfam (NCBI)pfam00378   
Conserved Domain (NCBI)ECH1
DMDM Disease mutations1891
Blocks (Seattle)ECH1
PDB (SRS)2VRE   
PDB (PDBSum)2VRE   
PDB (IMB)2VRE   
PDB (RSDB)2VRE   
Structural Biology KnowledgeBase2VRE   
SCOP (Structural Classification of Proteins)2VRE   
CATH (Classification of proteins structures)2VRE   
SuperfamilyQ13011
Human Protein AtlasENSG00000104823
Peptide AtlasQ13011
HPRD02825
IPIIPI00011416   
Protein Interaction databases
DIP (DOE-UCLA)Q13011
IntAct (EBI)Q13011
FunCoupENSG00000104823
BioGRIDECH1
STRING (EMBL)ECH1
ZODIACECH1
Ontologies - Pathways
QuickGOQ13011
Ontology : AmiGOreceptor binding  protein binding  mitochondrion  peroxisome  fatty acid beta-oxidation  membrane  isomerase activity  extracellular exosome  
Ontology : EGO-EBIreceptor binding  protein binding  mitochondrion  peroxisome  fatty acid beta-oxidation  membrane  isomerase activity  extracellular exosome  
Pathways : KEGGPeroxisome   
NDEx NetworkECH1
Atlas of Cancer Signalling NetworkECH1
Wikipedia pathwaysECH1
Orthology - Evolution
OrthoDB1891
GeneTree (enSembl)ENSG00000104823
Phylogenetic Trees/Animal Genes : TreeFamECH1
HOVERGENQ13011
HOGENOMQ13011
Homologs : HomoloGeneECH1
Homology/Alignments : Family Browser (UCSC)ECH1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerECH1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ECH1
dbVarECH1
ClinVarECH1
1000_GenomesECH1 
Exome Variant ServerECH1
ExAC (Exome Aggregation Consortium)ECH1 (select the gene name)
Genetic variants : HAPMAP1891
Genomic Variants (DGV)ECH1 [DGVbeta]
DECIPHER (Syndromes)19:39306062-39322497  ENSG00000104823
CONAN: Copy Number AnalysisECH1 
Mutations
ICGC Data PortalECH1 
TCGA Data PortalECH1 
Broad Tumor PortalECH1
OASIS PortalECH1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICECH1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDECH1
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ECH1
DgiDB (Drug Gene Interaction Database)ECH1
DoCM (Curated mutations)ECH1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ECH1 (select a term)
intoGenECH1
Cancer3DECH1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600696   
Orphanet
MedgenECH1
Genetic Testing Registry ECH1
NextProtQ13011 [Medical]
TSGene1891
GENETestsECH1
Huge Navigator ECH1 [HugePedia]
snp3D : Map Gene to Disease1891
BioCentury BCIQECH1
ClinGenECH1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1891
Chemical/Pharm GKB GenePA27596
Clinical trialECH1
Miscellaneous
canSAR (ICR)ECH1 (select the gene name)
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineECH1
EVEXECH1
GoPubMedECH1
iHOPECH1
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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