Echs1 enoyl Coenzyme A hydratase, short chain, 1, mitochondrial [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Echs1provided by MGI
Official Full Name: enoyl Coenzyme A hydratase, short chain, 1, mitochondrialprovided by MGI
Primary source: MGI:MGI:2136460
See related: Ensembl:ENSMUSG00000025465 AllianceGenome:MGI:2136460
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: SCEH; mECH; mECH1
Summary: Predicted to enable 3-hydroxypropionyl-CoA dehydratase activity. Predicted to be involved in fatty acid beta-oxidation. Located in mitochondrion. Is expressed in several structures, including alimentary system; integumental system; nervous system; sensory organ; and ventricle cardiac muscle. Human ortholog(s) of this gene implicated in mitochondrial short-chain enoyl-CoA hydratase 1 deficiency. Orthologous to human ECHS1 (enoyl-CoA hydratase, short chain 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in heart adult (RPKM 119.4), kidney adult (RPKM 88.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 F4; 7 85.12 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (139685623..139696334, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (140105710..140116421, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

potential protein targets for the loss of PostC may include F(1)-ATPase gamma, Echs1 and Hsp20 that could regulate cellular ATP consumption/production and defense response to ischaemic stress
Title: Type 2 diabetic obese db/db mice are refractory to myocardial ischaemic post-conditioning in vivo: potential role for Hsp20, F1-ATPase δ and Echs1.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2) 1 citation
Gene trapped (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH126939 (e-PCR)
- UniSTS:208224

34.MMHAP64FLD4.seq (e-PCR)
- UniSTS:124102

Echs1 (e-PCR), detects polymorphism
- UniSTS:527324

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 3-hydroxypropionyl-CoA dehydratase activity	IEA Inferred from Electronic Annotation more info
enables 3-hydroxypropionyl-CoA dehydratase activity	ISO Inferred from Sequence Orthology more info
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	IBA Inferred from Biological aspect of Ancestor more info
enables enoyl-CoA hydratase activity	ISO Inferred from Sequence Orthology more info
enables enoyl-CoA hydratase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in fatty acid beta-oxidation	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid beta-oxidation	IEA Inferred from Electronic Annotation more info
involved_in fatty acid beta-oxidation	ISO Inferred from Sequence Orthology more info
involved_in fatty acid beta-oxidation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in mitochondrial matrix	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: enoyl-CoA hydratase, mitochondrial

Names: enoyl-CoA hydratase 1; short-chain enoyl-CoA hydratase

NP_444349.1

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.

mRNA and Protein(s)

NM_053119.3 → NP_444349.1 enoyl-CoA hydratase, mitochondrial precursor

See identical proteins and their annotated locations for NP_444349.1

Status: VALIDATED

Source sequence(s)

AK040391, BC072658

Consensus CDS

CCDS21964.1

UniProtKB/Swiss-Prot

Q3TJK2, Q6GQS2, Q6PEN1, Q8BH95, Q99LX7

Related

ENSMUSP00000026538.7, ENSMUST00000026538.13

Conserved Domains (2) summary

PRK05617
Location:36 → 288

PRK05617; 3-hydroxyisobutyryl-CoA hydrolase; Provisional

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. ...