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Aliases & Descriptions for ECHS1
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| EC 4.2.1.17 3 | | OTTHUMP00000020811 2 | | SCEH 1, 2, 3, 5 |
| | | Descriptions |
|---|
| Enoyl-CoA hydratase 1 3 | | Short chain enoyl-CoA hydratase 3 | | enoyl Coenzyme A hydratase, short chain, 1, mitochondrial 2 | | mitochondrial short-chain enoyl-coenzyme A hydratase 1 2 |
|
| | Search outside databases for aliases for ECHS1 genePrevious GC identifers: GC10M134090 GC10M134305 GC10M135092 GC10M134649 GC10M135064 |
Summaries for ECHS1(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for ECHS1: The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. [provided by RefSeq] UniProtKB/Swiss-Prot: ECHM_HUMAN, P30084Function: Straight-chain enoyl-CoA thioesters from C4 up to at least C16 are processed, although with decreasing catalytic rateGene Wiki entry for ECHS1 |
Genomic Location for ECHS1
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the ECHS1 gene 
Entrez Gene cytogenetic band: 10q26.2-q26.3 Ensembl cytogenetic band: 10q26.3 HGNC cytogenetic band: 10q26.2-q26.3ECHS1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 10 GeneLoc Exon Structure GeneLoc location for GC10M135025:
(about GC identifiers)
Start:
|
135,025,980 bp from pter |
End:
|
135,036,898 bp from pter |
Size:
|
10,919 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000010.9 NT_017795.18
| Proteins for ECHS1
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: ECHM_HUMAN, P30084 (See
protein sequence)Recommended Name: Enoyl-CoA hydratase, mitochondrial precursor Size: 290 amino acids; 31387 Da
Subunit: Homohexamer; dimer of trimers
Subcellular location: Mitochondrion matrix
PDB structures from and Proteopedia :2HW5 (3D)
 
Secondary accessions: O00739 Q5VWY1 Q96H54Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_004083.3
ENSEMBL proteins: ENSP00000357535
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
2 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for ECHS1: Assays for ECHS1: | Protein
Domains/ Families for ECHS1(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P30084
ProtoNet protein and cluster: P30084 1 Blocks protein family: IPB001753 Enoyl-CoA hydratase/isomerase
UniProtKB/Swiss-Prot: ECHM_HUMAN, P30084Similarity: Belongs to the enoyl-CoA hydratase/isomerase family | Gene Function for ECHS1
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004092
Applied Biosystems Silencer® siRNAs for ECHS1
Sigma-Aldrich siRNA for ECHS1  Sigma-Aldrich shRNA for ECHS1  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_004092                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_004092                                  untagged cDNA clone in CMV expression vector: NM_004092 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_004092
UniProtKB/Swiss-Prot: ECHM_HUMAN, P30084Function: Straight-chain enoyl-CoA thioesters from C4 up to at least C16 are processed, although with decreasing catalytic rateCatalytic activity: (3S)-3-hydroxyacyl-CoA = trans-2(or 3)-enoyl-CoA + H(2)OEnzyme Number (IUBMB): EC 4.2.1.17 Genatlas biochemistry entry for ECHS1:mitochondrial short chain enoyl-CoA hydratase,fatty acid beta-oxidation1 MGI phenotypic allele for Echs1 (no phenotypes)
3 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for ECHS1
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 5/9 Sigma-Aldrich "Your Favorite Gene" Pathways for ECHS1 (Your Favorite Gene powered by Ingenuity) (see all 9
) 
UniProtKB/Swiss-Prot: ECHM_HUMAN, P30084Pathway: Lipid metabolism; fatty acid beta-oxidation 5/40 Interacting proteins for ECHS1 (ENSP000003575353 P300841, 2) via UniProtKB, MINT, and/or STRING (see all 40
)About this table
4 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for ECHS1(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for ECHS1 2 Novoseek chemical compound relationships for ECHS1 gene
About this table
|
Transcripts for ECHS1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004092
Sigma-Aldrich siRNA for ECHS1  Sigma-Aldrich shRNA for ECHS1  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_004092 REFSEQ mRNAs for ECHS1 gene: NM_004092.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_004092               OriGene GFP tagged cDNA clone in CMV expression vector: NM_004092                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_004092                                  untagged cDNA clone in CMV expression vector: NM_004092  Additional cDNA sequence: BC008906.2 BC013264.1 BT007123.1 CR591080.1 CR591488.1 CR594615.1 CR596739.1 CR597975.1 CR605028.1 CR607561.1 CR616268.1 CR626651.1 D13900.1 14 DOTS entries: DT.452833 DT.97854678 DT.100793942 DT.100793937 DT.100793940 DT.121302314 DT.86855122 DT.95184044 DT.95184049 DT.100793939 DT.40133205 DT.91770381 DT.91836671 DT.92326964 24/648 AceView cDNA sequences (see all 648
):BI711176 BQ267435 H61138 BQ130562 AA451650 CR596739 CR594615 CR591488 CR626651 CR607561 BG475456 BE389121 BQ613910 BF445725 BM508168 BQ214440 AI682747 CR605028 CR597975 H42686 F31969 BF568527 AW572477 H44550
highest scoring ESTs for ECHS1:D13900 AA071211 AA410906 AI815639 AW161032 AW327501 AW408237 BC008906 BC013264 BE019587 Unigene Cluster for ECHS1: Enoyl Coenzyme A hydratase, short chain, 1, mitochondrial Hs.76394 [show with all ESTs]Unigene Representative Sequence: NM_004092
GeneLoc Exon Structure
1 Ensembl transcript including schematic representation: ENST00000368547
|
Expression for ECHS1
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| ECHS1 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for ECHS1
1 / 2 / 3 3 probe-sets matching ECHS1 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: CTGTGCTCGG
SOURCE GeneReport for Unigene cluster: Hs.76394
Expression variation in blood from EXPOLDB for ECHS1 UniProtKB/Swiss-Prot: ECHM_HUMAN, P30084Tissue specificity: Liver, fibroblast, muscle. Barely detectable in spleen and kidney |
Orthologs for ECHS1
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for ECHS1 gene from 5/14 species (see all 14
)
| Organism |
Gene |
Locus |
Description |
Human Similarity |
NCBI accessions |
dog (Canis familiaris) |
ECHS11 |
-- |
enoyl Coenzyme A hydratase, short chain, 1, mitochondrial |
85.37(n) 88.93(a) |
480828 XM_537945.2 XP_537945.2 |
cow (Bos taurus) |
ECHS11 |
-- |
enoyl Coenzyme A hydratase, short chain, 1, mitochondrial |
85.4(n) 85.52(a) |
281748 NM_001025206.2 NP_001020377.2 |
rat (Rattus norvegicus) |
Echs11 |
-- |
enoyl Coenzyme A hydratase, short chain, 1, mitochondrial |
84.66(n) 87.2(a) |
140547 NM_078623.2 NP_511178.1 |
mouse (Mus musculus) |
Echs11, 5 |
75
|
enoyl Coenzyme A hydratase, short chain, 1, mitochondrial1, 5 |
85.01(n)1 87.89(a)1 |
937471 NM_053119.21 NP_444349.11 AK0403915 AK0449545 (see all 20) |
zebrafish (Danio rerio) |
wufj55e052 |
-- |
Danio rerio cDNA clone IMAGE6795596, partial cds |
73.84(n) |
BC055383.1 |
About this table Species with no ortholog for ECHS1
ENSEMBL Gene Tree for ECHS1 | Paralogs for ECHS1(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for ECHS1 gene
- ECHDC22 AUH2
|
SNPs/Variants for ECHS1(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for ECHS1 (up to first 250kb)
|
Disorders & Mutations for ECHS1
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 602292
2 Novoseek disease relationships for ECHS1 gene
About this table
|
Medical News for ECHS1(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for ECHS1 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/27 PubMed articles for ECHS1 gene (see all 27
):- Molecular cloning and sequence analysis of the cDNA for human mitochondrial short-chain enoyl-CoA hydratase. (PubMed id 8012501)1, 2, 3, 4 Kanazawa M.... Hashimoto T. (1993)
- Human mitochondrial enoyl-CoA hydratase gene (ECHS1): structural organization and assignment to chromosome 10q26.2-q26.3. (PubMed id 9073515)1, 3, 4 Janssen U.... Stoffel W. (1997)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)3, 4 Deloukas P.... Rogers J. (2004)
- Human ERp29: isolation, primary structural characterisation and two- dimensional gel mapping. (PubMed id 11271497)3, 4 Hubbard M.J. and McHugh N.J. (2000)
- Human liver protein map: a reference database established by microsequencing and gel comparison. (PubMed id 1286669)3, 4 Hochstrasser D.F....Vargas R. (1992)
- Suppression of virus replication via down-modulation of mitochondrial short chain enoyl-CoA hydratase in human glioblastoma cells. (PubMed id 17395278)1, 3 Takahashi M....Takahashi H. (2007)
- Large-scale mapping of human protein-protein interactions by mass spectrometry. (PubMed id 17353931)3 Ewing R.M....Figeys D. (2007)
- A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)3 Stelzl U....Wanker E.E. (2005)
- Proteomics of human umbilical vein endothelial cells applied to etoposide-induced apoptosis. (PubMed id 16130169)3 Bruneel A....Baudin B. (2005)
|
Search for ECHS1
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing ECHS1
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing ECHS1
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ECHS1(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for ECHS1(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for ECHS1:

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