ECHS1 cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	ECHS1
Entrez Gene ID	1892
Full Name	enoyl-CoA hydratase, short chain 1
Synonyms	ECHS1D,SCEH
General protein information	Preferred Names enoyl-CoA hydratase, short chain 1 Names enoyl-CoA hydratase, mitochondrial enoyl Coenzyme A hydratase, short chain, 1, mitochondrial enoyl-CoA hydratase, short chain, 1, mitochondrial short chain enoyl-CoA hydratase
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: 10 Map Location: 10q26.3
Summary	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, Jul 2008].
Disorder MIM:	602292
Disorder Html:	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_004092.3	NP_004083.3	enoyl-CoA hydratase, mitochondrial
NM_004092.4	NP_004083.3	enoyl-CoA hydratase, mitochondrial

Pathways from BioSystems

Homologies

Rattus norvegicus (Norway rat)	Echs1	NP_511178.1
Homo sapiens (human)	ECHS1	NP_004083.3
Rattus norvegicus (Norway rat)	LOC100911186	XP_003748934.1
Anopheles gambiae (African malaria mosquito)	AgaP_AGAP011833	XP_320683.2
Caenorhabditis elegans (roundworm)	ech-6	NP_499156.1
Xenopus tropicalis (tropical clawed frog)	echs1	NP_001005437.1
Canis lupus familiaris (dog)	ECHS1	XP_537945.4
Danio rerio (zebrafish)	echs1	NP_001004529.1
Drosophila melanogaster (fruit fly)	CG6543	NP_610910.1
Neurospora crassa	NCU06448	XP_957339.1
Gallus gallus (chicken)	ECHS1	NP_001264324.1
Pan troglodytes (chimpanzee)	ECHS1	XP_003312886.1
Bos taurus (cattle)	ECHS1	NP_001020377.2
Mus musculus (house mouse)	Echs1	NP_444349.1
Magnaporthe oryzae (rice blast fungus)	MGG_12868	XP_003717318.1

Gene Ontology
Bibliography

Related articles in PubMed

Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
Balasubramaniam S, Riley LG, Bratkovic D, Ketteridge D, Manton N, Cowley MJ, Gayevskiy V, Roscioli T, Mohamed M, Gardeitchik T, Morava E, Christodoulou J
Journal of inherited metabolic disease40(5)745-747(2017 Sep)

Enoyl-CoA hydratase-1 regulates mTOR signaling and apoptosis by sensing nutrients.
Zhang YK, Qu YY, Lin Y, Wu XH, Chen HZ, Wang X, Zhou KQ, Wei Y, Guo F, Yao CF, He XD, Liu LX, Yang C, Guan ZY, Wang SD, Zhao J, Liu DP, Zhao SM, Xu W
Nature communications8(1)464(2017 09)

Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.
Bedoyan JK, Yang SP, Ferdinandusse S, Jack RM, Miron A, Grahame G, DeBrosse SD, Hoppel CL, Kerr DS, Wanders RJA
Molecular genetics and metabolism120(4)342-349(2017 Apr)

GeneRIFs: Gene References Into Functions What's a GeneRIF?

exceeding nutrients suppress Enoyl-CoA hydratase-1 (ECHS1) activity by inducing its acetylation resulting in accumulation of fatty acids and branched-chain amino acids and oncogenic mTOR activation
Title: Enoyl-CoA hydratase-1 regulates mTOR signaling and apoptosis by sensing nutrients.

Whole exome sequencing identified heterozygous ECHS1 mutations c.836T>C (novel) and c.8C>A for short-chain enoyl-CoA hydratase (SCEH) deficiency of which 1/2 of the cases are associated with secondary lymphocyte pyruvate dehydrogenase complex deficiency.[review]
Title: Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.

This is the first report of homozygosity for a truncating mutation in ECHS1, which may explain the severe phenotype. Our report highlights the need to consider SCEH deficiency in patients with lethal neonatal lactic acidosis
Title: A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency.

ECHS1 mutations phenotype might be milder than reported earlier, compatible with prolonged survival, and also includes isolated paroxysmal exercise-induced dystonia.
Title: Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.

Human ECHS1 catalyses the hydration of five substrates via different metabolic pathways, with the highest specificity for crotonyl-CoA and the lowest specificity for tiglyl-CoA
Title: Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion.

The following ECHS1 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the ECHS1 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1⁺/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

***CloneID	Accession No.	Definition	**Vector	*Turnaround time	Price (USD)
OHu09094	NM_004092.4 Latest version!	Homo sapiens enoyl-CoA hydratase, short chain 1 (ECHS1), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$99.50-$139.30 $199.00
View Old Accession Versions >>
OHu09094	NM_004092.3	Homo sapiens enoyl-CoA hydratase, short chain 1 (ECHS1), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	7-9	$69.30 $99.00
Hide Old Accession Versions >>

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** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.

Reference Sequences (Refseq)

ECHS1 ( NM_004092.4 ) cDNA ORF clone, Homo sapiens(human) -> NP_004083.3 Homo sapiens enoyl-CoA hydratase, short chain 1 (ECHS1), mRNA.

Price & Availability↑

CloneID	OHu09094
Clone ID Related Accession (Same CDS sequence)	NM_004092.3 , NM_004092.4
Accession Version	NM_004092.4 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 873bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-10-25
Organism	Homo sapiens(human)
Product	enoyl-CoA hydratase, mitochondrial
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BI091611.1, BC008906.2, BE906357.1 and BQ130816.1. This sequence is a reference standard in the RefSeqGene project. On Nov 23, 2018 this sequence version replaced NM_004092.3. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.102172.1, SRR5189652.169920.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968832, SAMEA2159080 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000368547.4/ ENSP00000357535.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## COMPLETENESS: full length.

ATGGCCGCCC TGCGTGTCCT GCTGTCCTGC GTCCGCGGCC CGCTGAGGCC CCCGGTTCGC 
TGTCCCGCCT GGCGTCCCTT CGCCTCGGGT GCTAACTTTG AGTACATCAT CGCAGAAAAA 
AGAGGGAAGA ATAACACCGT GGGGTTGATC CAACTGAACC GCCCCAAGGC CCTCAATGCA 
CTTTGCGATG GCCTGATTGA CGAGCTCAAC CAGGCCCTGA AGACCTTCGA GGAGGACCCG 
GCCGTGGGGG CCATTGTCCT CACCGGCGGG GATAAGGCCT TTGCAGCTGG AGCTGATATC 
AAGGAAATGC AGAACCTGAG TTTCCAGGAC TGTTACTCCA GCAAGTTCTT GAAGCACTGG 
GACCACCTCA CCCAGGTCAA GAAGCCAGTC ATCGCTGCTG TCAATGGCTA TGCCTTTGGC 
GGGGGCTGTG AGCTTGCCAT GATGTGTGAT ATCATCTATG CCGGTGAGAA GGCCCAGTTT 
GCACAGCCGG AGATCTTAAT AGGAACCATC CCAGGTGCGG GCGGCACCCA GAGACTCACC 
CGTGCTGTTG GGAAGTCGCT GGCGATGGAG ATGGTCCTCA CTGGTGACCG GATCTCAGCC 
CAGGACGCCA AGCAAGCAGG TCTTGTCAGC AAGATTTGTC CTGTTGAGAC ACTGGTGGAA 
GAAGCCATCC AGTGTGCAGA AAAAATTGCC AGCAATTCTA AAATTGTAGT AGCGATGGCC 
AAAGAATCAG TGAATGCAGC TTTTGAAATG ACATTAACAG AAGGAAGTAA GTTGGAGAAG 
AAACTCTTTT ATTCAACCTT TGCCACTGAT GACCGGAAAG AAGGGATGAC CGCGTTTGTG 
GAAAAGAGAA AGGCCAACTT CAAAGACCAG TGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_004083.3
CDS	22..894
Translation	MAALRVLLSCVRGPLRPPVRCPAWRPFASGANFEYIIAEKRGKNNTVGLIQLNRPKALNALCDGLIDELNQALKTFEEDPAVGAIVLTGGDKAFAAGADIKEMQNLSFQDCYSSKFLKHWDHLTQVKKPVIAAVNGYAFGGGCELAMMCDIIYAGEKAQFAQPEILIGTIPGAGGTQRLTRAVGKSLAMEMVLTGDRISAQDAKQAGLVSKICPVETLVEEAIQCAEKIASNSKIVVAMAKESVNAAFEMTLTEGSKLEKKLFYSTFATDDRKEGMTAFVEKRKANFKDQ

Target ORF information:

RefSeq Version	NM_004092.4
Organism	Homo sapiens(human)
Definition	Homo sapiens enoyl-CoA hydratase, short chain 1 (ECHS1), mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_004092.4

ORF Insert Sequence:

ATGGCCGCCC TGCGTGTCCT GCTGTCCTGC GTCCGCGGCC CGCTGAGGCC CCCGGTTCGC 
TGTCCCGCCT GGCGTCCCTT CGCCTCGGGT GCTAACTTTG AGTACATCAT CGCAGAAAAA 
AGAGGGAAGA ATAACACCGT GGGGTTGATC CAACTGAACC GCCCCAAGGC CCTCAATGCA 
CTTTGCGATG GCCTGATTGA CGAGCTCAAC CAGGCCCTGA AGACCTTCGA GGAGGACCCG 
GCCGTGGGGG CCATTGTCCT CACCGGCGGG GATAAGGCCT TTGCAGCTGG AGCTGATATC 
AAGGAAATGC AGAACCTGAG TTTCCAGGAC TGTTACTCCA GCAAGTTCTT GAAGCACTGG 
GACCACCTCA CCCAGGTCAA GAAGCCAGTC ATCGCTGCTG TCAATGGCTA TGCCTTTGGC 
GGGGGCTGTG AGCTTGCCAT GATGTGTGAT ATCATCTATG CCGGTGAGAA GGCCCAGTTT 
GCACAGCCGG AGATCTTAAT AGGAACCATC CCAGGTGCGG GCGGCACCCA GAGACTCACC 
CGTGCTGTTG GGAAGTCGCT GGCGATGGAG ATGGTCCTCA CTGGTGACCG GATCTCAGCC 
CAGGACGCCA AGCAAGCAGG TCTTGTCAGC AAGATTTGTC CTGTTGAGAC ACTGGTGGAA 
GAAGCCATCC AGTGTGCAGA AAAAATTGCC AGCAATTCTA AAATTGTAGT AGCGATGGCC 
AAAGAATCAG TGAATGCAGC TTTTGAAATG ACATTAACAG AAGGAAGTAA GTTGGAGAAG 
AAACTCTTTT ATTCAACCTT TGCCACTGAT GACCGGAAAG AAGGGATGAC CGCGTTTGTG 
GAAAAGAGAA AGGCCAACTT CAAAGACCAG TGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

ECHS1 ( NM_004092.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_004083.3 Homo sapiens enoyl-CoA hydratase, short chain 1 (ECHS1), mRNA.

Price & Availability↑

CloneID	OHu09094
Clone ID Related Accession (Same CDS sequence)	NM_004092.3 , NM_004092.4
Accession Version	NM_004092.3	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 873bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2017-12-31
Organism	Homo sapiens(human)
Product	enoyl-CoA hydratase, mitochondrial
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BI091611.1, BC008906.2, BE906357.1 and BQ130816.1. This sequence is a reference standard in the RefSeqGene project. On Jul 11, 2008 this sequence version replaced NM_004092.2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: ERR279839.2262.1, SRR1163658.352581.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968832, SAMEA2159080 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## COMPLETENESS: full length.

ATGGCCGCCC TGCGTGTCCT GCTGTCCTGC GTCCGCGGCC CGCTGAGGCC CCCGGTTCGC 
TGTCCCGCCT GGCGTCCCTT CGCCTCGGGT GCTAACTTTG AGTACATCAT CGCAGAAAAA 
AGAGGGAAGA ATAACACCGT GGGGTTGATC CAACTGAACC GCCCCAAGGC CCTCAATGCA 
CTTTGCGATG GCCTGATTGA CGAGCTCAAC CAGGCCCTGA AGACCTTCGA GGAGGACCCG 
GCCGTGGGGG CCATTGTCCT CACCGGCGGG GATAAGGCCT TTGCAGCTGG AGCTGATATC 
AAGGAAATGC AGAACCTGAG TTTCCAGGAC TGTTACTCCA GCAAGTTCTT GAAGCACTGG 
GACCACCTCA CCCAGGTCAA GAAGCCAGTC ATCGCTGCTG TCAATGGCTA TGCCTTTGGC 
GGGGGCTGTG AGCTTGCCAT GATGTGTGAT ATCATCTATG CCGGTGAGAA GGCCCAGTTT 
GCACAGCCGG AGATCTTAAT AGGAACCATC CCAGGTGCGG GCGGCACCCA GAGACTCACC 
CGTGCTGTTG GGAAGTCGCT GGCGATGGAG ATGGTCCTCA CTGGTGACCG GATCTCAGCC 
CAGGACGCCA AGCAAGCAGG TCTTGTCAGC AAGATTTGTC CTGTTGAGAC ACTGGTGGAA 
GAAGCCATCC AGTGTGCAGA AAAAATTGCC AGCAATTCTA AAATTGTAGT AGCGATGGCC 
AAAGAATCAG TGAATGCAGC TTTTGAAATG ACATTAACAG AAGGAAGTAA GTTGGAGAAG 
AAACTCTTTT ATTCAACCTT TGCCACTGAT GACCGGAAAG AAGGGATGAC CGCGTTTGTG 
GAAAAGAGAA AGGCCAACTT CAAAGACCAG TGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_004083.3
CDS	72..944
Translation	MAALRVLLSCVRGPLRPPVRCPAWRPFASGANFEYIIAEKRGKNNTVGLIQLNRPKALNALCDGLIDELNQALKTFEEDPAVGAIVLTGGDKAFAAGADIKEMQNLSFQDCYSSKFLKHWDHLTQVKKPVIAAVNGYAFGGGCELAMMCDIIYAGEKAQFAQPEILIGTIPGAGGTQRLTRAVGKSLAMEMVLTGDRISAQDAKQAGLVSKICPVETLVEEAIQCAEKIASNSKIVVAMAKESVNAAFEMTLTEGSKLEKKLFYSTFATDDRKEGMTAFVEKRKANFKDQ

Target ORF information:

RefSeq Version	NM_004092.3
Organism	Homo sapiens(human)
Definition	Homo sapiens enoyl-CoA hydratase, short chain 1 (ECHS1), mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_004092.3

ORF Insert Sequence:

ATGGCCGCCC TGCGTGTCCT GCTGTCCTGC GTCCGCGGCC CGCTGAGGCC CCCGGTTCGC 
TGTCCCGCCT GGCGTCCCTT CGCCTCGGGT GCTAACTTTG AGTACATCAT CGCAGAAAAA 
AGAGGGAAGA ATAACACCGT GGGGTTGATC CAACTGAACC GCCCCAAGGC CCTCAATGCA 
CTTTGCGATG GCCTGATTGA CGAGCTCAAC CAGGCCCTGA AGACCTTCGA GGAGGACCCG 
GCCGTGGGGG CCATTGTCCT CACCGGCGGG GATAAGGCCT TTGCAGCTGG AGCTGATATC 
AAGGAAATGC AGAACCTGAG TTTCCAGGAC TGTTACTCCA GCAAGTTCTT GAAGCACTGG 
GACCACCTCA CCCAGGTCAA GAAGCCAGTC ATCGCTGCTG TCAATGGCTA TGCCTTTGGC 
GGGGGCTGTG AGCTTGCCAT GATGTGTGAT ATCATCTATG CCGGTGAGAA GGCCCAGTTT 
GCACAGCCGG AGATCTTAAT AGGAACCATC CCAGGTGCGG GCGGCACCCA GAGACTCACC 
CGTGCTGTTG GGAAGTCGCT GGCGATGGAG ATGGTCCTCA CTGGTGACCG GATCTCAGCC 
CAGGACGCCA AGCAAGCAGG TCTTGTCAGC AAGATTTGTC CTGTTGAGAC ACTGGTGGAA 
GAAGCCATCC AGTGTGCAGA AAAAATTGCC AGCAATTCTA AAATTGTAGT AGCGATGGCC 
AAAGAATCAG TGAATGCAGC TTTTGAAATG ACATTAACAG AAGGAAGTAA GTTGGAGAAG 
AAACTCTTTT ATTCAACCTT TGCCACTGAT GACCGGAAAG AAGGGATGAC CGCGTTTGTG 
GAAAAGAGAA AGGCCAACTT CAAAGACCAG TGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

PubMed

Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
Journal of inherited metabolic disease40(5)745-747(2017 Sep)
Balasubramaniam S,Riley LG,Bratkovic D,Ketteridge D,Manton N,Cowley MJ,Gayevskiy V,Roscioli T,Mohamed M,Gardeitchik T,Morava E,Christodoulou J

Enoyl-CoA hydratase-1 regulates mTOR signaling and apoptosis by sensing nutrients.
Nature communications8(1)464(2017 09)
Zhang YK,Qu YY,Lin Y,Wu XH,Chen HZ,Wang X,Zhou KQ,Wei Y,Guo F,Yao CF,He XD,Liu LX,Yang C,Guan ZY,Wang SD,Zhao J,Liu DP,Zhao SM,Xu W

Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.
Molecular genetics and metabolism120(4)342-349(2017 Apr)
Bedoyan JK,Yang SP,Ferdinandusse S,Jack RM,Miron A,Grahame G,DeBrosse SD,Hoppel CL,Kerr DS,Wanders RJA