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

Gene ID: 1892, updated on 6-Jan-2019

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
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; 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

Genomic context

See ECHS1 in Genome Data Viewer
Location:
10q26.3
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (133362480..133373404, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (135175987..135186908, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene proline rich acidic protein 1 Neighboring gene fucose mutarotase Neighboring gene microRNA 3944 Neighboring gene polyamine oxidase Neighboring gene mitochondrial ribosome associated GTPase 1 Neighboring gene shadow of prion protein

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enoyl-CoA hydratase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enoyl-CoA hydratase activity IDA
Inferred from Direct Assay
more info
PubMed 
enoyl-CoA hydratase activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
fatty acid beta-oxidation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fatty acid beta-oxidation IDA
Inferred from Direct Assay
more info
PubMed 
fatty acid beta-oxidation IEA
Inferred from Electronic Annotation
more info
 
fatty acid beta-oxidation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
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)

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
    5001..15922
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004092.4NP_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
    P30084
    Related
    ENSP00000357535.3, ENST00000368547.3
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    133362480..133373404 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_002956965.1 RNA Sequence

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