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

Gene ID: 1892, updated on 19-Sep-2024

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
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Genomic context

See ECHS1 in Genome Data Viewer
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_000010.11Genomic Context describing neighboring genes Neighboring gene ZNF511-PRAP1 readthrough Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:135160243-135160902 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:135160903-135161562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:135161563-135162222 Neighboring gene proline rich acidic protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:135169540-135170274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4247 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2975 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2976 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:135172784-135172946 Neighboring gene fucose mutarotase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4248 Neighboring gene uncharacterized LOC124902563 Neighboring gene microRNA 3944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:135191859-135192358 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2978 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2979 Neighboring gene polyamine oxidase Neighboring gene ReSE screen-validated silencer GRCh37_chr10:135202015-135202172 Neighboring gene Sharpr-MPRA regulatory region 11835 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2980

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 IBA
Inferred from Biological aspect of Ancestor
more info
 
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 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

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

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

  1. NG_042077.1 RefSeqGene

    Range
    5051..15920
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    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:32288
    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. ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    133362485..133373354 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    134317601..134328373 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)