ECHS1 enoyl-CoA hydratase, short chain 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ECHS1provided by HGNC
Official Full Name: enoyl-CoA hydratase, short chain 1provided by HGNC
Primary source: HGNC:HGNC:3151
See related: Ensembl:ENSG00000127884 MIM:602292; AllianceGenome:HGNC:3151
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SCEH; mECH; mECH1; ECHS1D
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]
Expression: Broad expression in liver (RPKM 317.5), kidney (RPKM 253.4) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q26.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (133362485..133373354, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (134317601..134328373, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (135175989..135186858, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Molecular and in silico investigation of a novel ECHS1 gene mutation in a consanguine family with short-chain enoyl-CoA hydratase deficiency and Mt-DNA depletion: effect on trimer assembly and catalytic activity.
Title: Molecular and in silico investigation of a novel ECHS1 gene mutation in a consanguine family with short-chain enoyl-CoA hydratase deficiency and Mt-DNA depletion: effect on trimer assembly and catalytic activity.
Differentially expressed genes PCCA, ECHS1, and HADH are potential prognostic biomarkers for gastric cancer.
Title: Differentially expressed genes PCCA, ECHS1, and HADH are potential prognostic biomarkers for gastric cancer.
ECHS1, an interacting protein of LASP1, induces sphingolipid-metabolism imbalance to promote colorectal cancer progression by regulating ceramide glycosylation.
Title: ECHS1, an interacting protein of LASP1, induces sphingolipid-metabolism imbalance to promote colorectal cancer progression by regulating ceramide glycosylation.
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
Title: Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder.
Title: ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder.
Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches.
Title: Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches.
Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report.
Title: Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report.
ECHS1 suppresses renal cell carcinoma development through inhibiting mTOR signaling activation.
Title: ECHS1 suppresses renal cell carcinoma development through inhibiting mTOR signaling activation.
In clear cell renal cell carcinoma (ccRCC) ECHS1 downregulation induced fatty acid (FA) and branched-chain amino acid (BCAA) accumulation, which inhibited AMPK-promoted expression of GATA3, a transcriptional activator of ECHS1. BCAA accumulation induced activation of mTORC1 and de novo FA synthesis and promoted cell proliferation. GATA3 expression phenocopied ECHS1 in predicting ccRCC progression and patient survival.
Title: Inactivation of the AMPK-GATA3-ECHS1 Pathway Induces Fatty Acid Synthesis That Promotes Clear Cell Renal Cell Carcinoma Growth.
Due to enoyl coenzyme A hydratase, short chain, 1, mitochondria (ECHS1) deficiency.
Title: Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.

Submit: New GeneRIF Correction See all GeneRIFs (28)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency MedGen: C4225391 OMIM: 616277 GeneReviews: Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S1291E (e-PCR)
- UniSTS:151325

G54149 (e-PCR)
- UniSTS:109386

D10S1700 (e-PCR)
- UniSTS:75640

D10S2290 (e-PCR)
- UniSTS:7561

RH67939 (e-PCR)
- UniSTS:81806

G60572 (e-PCR)
- UniSTS:137678

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3-hydroxypropionyl-CoA dehydratase activity	IDA Inferred from Direct Assay more info	PubMed
enables crotonyl-CoA hydratase activity	IEA Inferred from Electronic Annotation more info
enables delta(3)-delta(2)-enoyl-CoA isomerase activity	IEA Inferred from Electronic Annotation more info
enables enoyl-CoA hydratase activity	EXP Inferred from Experiment more info	PubMed
enables enoyl-CoA hydratase activity	IDA Inferred from Direct Assay more info	PubMed
enables enoyl-CoA hydratase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in branched-chain amino acid catabolic process	TAS Traceable Author Statement more info
involved_in fatty acid beta-oxidation	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid beta-oxidation	IDA Inferred from Direct Assay more info	PubMed
involved_in fatty acid beta-oxidation	IEA Inferred from Electronic Annotation more info
involved_in fatty acid beta-oxidation	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in mitochondrion	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: enoyl-CoA hydratase, mitochondrial

Names: enoyl Coenzyme A hydratase, short chain, 1, mitochondrial; enoyl-CoA hydratase, short chain, 1, mitochondrial; epididymis secretory sperm binding protein; short chain enoyl-CoA hydratase

NP_004083.3

EC 4.2.1.17

EC 5.3.3.8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_042077.1 RefSeqGene

Range

5051..15920

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004092.4 → NP_004083.3 enoyl-CoA hydratase, mitochondrial

See identical proteins and their annotated locations for NP_004083.3

Status: REVIEWED

Source sequence(s)

BC008906, BE906357, BI091611, BQ130816

Consensus CDS

CCDS7681.1

UniProtKB/Swiss-Prot

O00739, P30084, Q5VWY1, Q96H54

UniProtKB/TrEMBL

A0A384MDW7

Related

ENSP00000357535.3, ENST00000368547.4

Conserved Domains (1) summary

cl23717
Location:32 → 288

crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...