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ECHS1 (enoyl-CoA hydratase, short chain 1)

Identity

Alias (NCBI)ECHS1D
SCEH
HGNC (Hugo) ECHS1
HGNC Alias symbSCEH
HGNC Alias nameshort chain enoyl-CoA hydratase
HGNC Previous nameenoyl Coenzyme A hydratase, short chain, 1, mitochondrial
 enoyl-CoA hydratase, short chain, 1, mitochondrial
LocusID (NCBI) 1892
Atlas_Id 53815
Location 10q26.3  [Link to chromosome band 10q26]
Location_base_pair Starts at 133362485 and ends at 133373354 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ECHS1 (10q26.3) / ECHS1 (10q26.3)ENOX1 (13q14.11) / ECHS1 (10q26.3)JUP (17q21.2) / ECHS1 (10q26.3)

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)ECHS1   3151
Cards
Entrez_Gene (NCBI)ECHS1    enoyl-CoA hydratase, short chain 1
AliasesECHS1D; SCEH
GeneCards (Weizmann)ECHS1
Ensembl hg19 (Hinxton)ENSG00000127884 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000127884 [Gene_View]  ENSG00000127884 [Sequence]  chr10:133362485-133373354 [Contig_View]  ECHS1 [Vega]
ICGC DataPortalENSG00000127884
TCGA cBioPortalECHS1
AceView (NCBI)ECHS1
Genatlas (Paris)ECHS1
SOURCE (Princeton)ECHS1
Genetics Home Reference (NIH)ECHS1
Genomic and cartography
GoldenPath hg38 (UCSC)ECHS1  -     chr10:133362485-133373354 -  10q26.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ECHS1  -     10q26.3   [Description]    (hg19-Feb_2009)
GoldenPathECHS1 - 10q26.3 [CytoView hg19]  ECHS1 - 10q26.3 [CytoView hg38]
ImmunoBaseENSG00000127884
Genome Data Viewer NCBIECHS1 [Mapview hg19]  
OMIM602292   616277   
Gene and transcription
Genbank (Entrez)BC008906 BC013264 BE906357 BI091611 BQ130816
RefSeq transcript (Entrez)NM_004092
Consensus coding sequences : CCDS (NCBI)ECHS1
Gene ExpressionECHS1 [ NCBI-GEO ]   ECHS1 [ EBI - ARRAY_EXPRESS ]   ECHS1 [ SEEK ]   ECHS1 [ MEM ]
Gene Expression Viewer (FireBrowse)ECHS1 [ Firebrowse - Broad ]
GenevisibleExpression of ECHS1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1892
GTEX Portal (Tissue expression)ECHS1
Human Protein AtlasENSG00000127884-ECHS1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP30084   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP30084  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP30084
PhosPhoSitePlusP30084
Domaine pattern : Prosite (Expaxy)ENOYL_COA_HYDRATASE (PS00166)   
Domains : Interpro (EBI)ClpP/crotonase-like_dom_sf    Enoyl-CoA_hyd/isom_CS    Enoyl-CoA_hydra/iso    Enoyl-CoA_hydra_C   
Domain families : Pfam (Sanger)ECH_1 (PF00378)   
Domain families : Pfam (NCBI)pfam00378   
Conserved Domain (NCBI)ECHS1
PDB (RSDB)2HW5   
PDB Europe2HW5   
PDB (PDBSum)2HW5   
PDB (IMB)2HW5   
Structural Biology KnowledgeBase2HW5   
SCOP (Structural Classification of Proteins)2HW5   
CATH (Classification of proteins structures)2HW5   
SuperfamilyP30084
AlphaFold pdb e-kbP30084   
Human Protein Atlas [tissue]ENSG00000127884-ECHS1 [tissue]
HPRD03799
Protein Interaction databases
DIP (DOE-UCLA)P30084
IntAct (EBI)P30084
BioGRIDECHS1
STRING (EMBL)ECHS1
ZODIACECHS1
Ontologies - Pathways
QuickGOP30084
Ontology : AmiGOenoyl-CoA hydratase activity  enoyl-CoA hydratase activity  enoyl-CoA hydratase activity  protein binding  mitochondrion  mitochondrion  mitochondrion  mitochondrial matrix  fatty acid beta-oxidation  fatty acid beta-oxidation  fatty acid beta-oxidation  fatty acid beta-oxidation  branched-chain amino acid catabolic process  3-hydroxypropionyl-CoA dehydratase activity  crotonyl-CoA hydratase activity  
Ontology : EGO-EBIenoyl-CoA hydratase activity  enoyl-CoA hydratase activity  enoyl-CoA hydratase activity  protein binding  mitochondrion  mitochondrion  mitochondrion  mitochondrial matrix  fatty acid beta-oxidation  fatty acid beta-oxidation  fatty acid beta-oxidation  fatty acid beta-oxidation  branched-chain amino acid catabolic process  3-hydroxypropionyl-CoA dehydratase activity  crotonyl-CoA hydratase activity  
Pathways : KEGGFatty acid elongation    Fatty acid degradation    Valine, leucine and isoleucine degradation    Lysine degradation    Tryptophan metabolism    beta-Alanine metabolism    Propanoate metabolism    Butanoate metabolism   
NDEx NetworkECHS1
Atlas of Cancer Signalling NetworkECHS1
Wikipedia pathwaysECHS1
Orthology - Evolution
OrthoDB1892
GeneTree (enSembl)ENSG00000127884
Phylogenetic Trees/Animal Genes : TreeFamECHS1
Homologs : HomoloGeneECHS1
Homology/Alignments : Family Browser (UCSC)ECHS1
Gene fusions - Rearrangements
Fusion : QuiverECHS1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerECHS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ECHS1
dbVarECHS1
ClinVarECHS1
MonarchECHS1
1000_GenomesECHS1 
Exome Variant ServerECHS1
GNOMAD BrowserENSG00000127884
Varsome BrowserECHS1
ACMGECHS1 variants
VarityP30084
Genomic Variants (DGV)ECHS1 [DGVbeta]
DECIPHERECHS1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisECHS1 
Mutations
ICGC Data PortalECHS1 
TCGA Data PortalECHS1 
Broad Tumor PortalECHS1
OASIS PortalECHS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICECHS1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DECHS1
Mutations and Diseases : HGMDECHS1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaECHS1
DgiDB (Drug Gene Interaction Database)ECHS1
DoCM (Curated mutations)ECHS1
CIViC (Clinical Interpretations of Variants in Cancer)ECHS1
Cancer3DECHS1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602292    616277   
Orphanet19814   
DisGeNETECHS1
MedgenECHS1
Genetic Testing Registry ECHS1
NextProtP30084 [Medical]
GENETestsECHS1
Target ValidationECHS1
Huge Navigator ECHS1 [HugePedia]
ClinGenECHS1
Clinical trials, drugs, therapy
MyCancerGenomeECHS1
Protein Interactions : CTDECHS1
Pharm GKB GenePA27597
PharosP30084
Clinical trialECHS1
Miscellaneous
canSAR (ICR)ECHS1
HarmonizomeECHS1
DataMed IndexECHS1
Probes
Litterature
PubMed83 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXECHS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:07:38 CEST 2021
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