ECH1 (enoyl-CoA hydratase 1) - Rat Genome Database

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Gene: ECH1 (enoyl-CoA hydratase 1) Homo sapiens
Analyze
Symbol: ECH1
Name: enoyl-CoA hydratase 1
RGD ID: 732278
HGNC Page HGNC
Description: Predicted to have delta3,5-delta2,4-dienoyl-CoA isomerase activity. Predicted to be involved in protein targeting to peroxisome. Localizes to extracellular exosome and membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial; delta3,5-delta2,4-dienoyl-CoA isomerase; delta3,5-delta2,4-dienoyl-coenzyme A isomerase; dienoyl-CoA isomerase; enoyl CoA hydratase 1, peroxisomal; enoyl coenzyme a hydratase 1; enoyl Coenzyme A hydratase 1, peroxisomal; enoyl-CoA hydratase 1, peroxisomal; HPXEL; peroxisomal enoyl-CoA hydratase 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1938,815,422 - 38,831,841 (-)EnsemblGRCh38hg38GRCh38
GRCh381938,815,422 - 38,831,794 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371939,306,062 - 39,322,434 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361943,997,902 - 44,014,337 (-)NCBINCBI36hg18NCBI36
Build 341943,997,909 - 44,014,278NCBI
Celera1936,108,519 - 36,124,956 (-)NCBI
Cytogenetic Map19q13.2NCBI
HuRef1935,752,797 - 35,769,242 (-)NCBIHuRef
CHM1_11939,306,533 - 39,322,968 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-dexrazoxane  (ISO)
(+)-schisandrin B  (ISO)
1,2,4-trimethylbenzene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-bromopropane  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,3,3-tetrafluoro-2-(heptafluoropropoxy)propanoic acid  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
2-methyl-2-[4-(1,2,3,4-tetrahydronaphthalen-1-yl)phenoxy]propanoic acid  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
7H-xanthine  (ISO)
9H-xanthine  (ISO)
acetamide  (ISO)
acrolein  (EXP)
aflatoxin B1  (ISO)
alpha-pinene  (EXP)
amiodarone  (ISO)
ammonium chloride  (ISO)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
bexarotene  (ISO)
bezafibrate  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bleomycin A2  (ISO)
buspirone  (ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
choline  (ISO)
chromium trinitrate  (ISO)
ciprofibrate  (ISO)
cisplatin  (ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP,ISO)
copper(II) sulfate  (EXP)
curcumin  (ISO)
cyclosporin A  (EXP,ISO)
decabromodiphenyl ether  (ISO)
diarsenic trioxide  (EXP)
diazinon  (ISO)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
disodium selenite  (EXP)
diuron  (ISO)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
ethanol  (EXP,ISO)
farnesol  (EXP)
fenofibrate  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
gemfibrozil  (ISO)
genistein  (EXP)
gentamycin  (ISO)
gliotoxin  (ISO)
GW 4064  (EXP)
GW 501516  (EXP)
GW 7647  (EXP)
hydroxyurea  (ISO)
isotretinoin  (EXP)
L-methionine  (ISO)
leflunomide  (ISO)
lithium atom  (ISO)
lithium hydride  (ISO)
metformin  (ISO)
methapyrilene  (ISO)
methotrexate  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
monosodium L-glutamate  (ISO)
morphine  (ISO)
N-methyl-N-nitrosourea  (ISO)
nafenopin  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
nitric oxide  (ISO)
oleic acid  (EXP)
ozone  (EXP)
paclitaxel  (ISO)
paracetamol  (EXP,ISO)
perfluorodecanoic acid  (ISO)
perfluorododecanoic acid  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenformin  (ISO)
phenobarbital  (ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
potassium chromate  (ISO)
pravastatin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (ISO)
quercetin  (ISO)
rac-1,2-dichloropropane  (ISO)
rac-lactic acid  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
sodium arsenite  (ISO)
sulforaphane  (ISO)
sunitinib  (EXP)
tacrolimus hydrate  (ISO)
tert-butyl ethyl ether  (ISO)
tert-butyl hydroperoxide  (ISO)
Tesaglitazar  (EXP,ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
titanium dioxide  (ISO)
tremolite asbestos  (ISO)
trichloroethene  (ISO)
triptonide  (ISO)
troglitazone  (EXP,ISO)
tunicamycin  (EXP)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vorinostat  (EXP)
zaragozic acid A  (ISO)
zearalenone  (EXP)
zinc atom  (ISO)
zinc(0)  (ISO)
zoledronic acid  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:9417087   PMID:12477932   PMID:14500732   PMID:15383276   PMID:15489334   PMID:16169070   PMID:16482509   PMID:16615866   PMID:17081983   PMID:17676665   PMID:18029348   PMID:19946888  
PMID:20178365   PMID:20186120   PMID:20458337   PMID:20877624   PMID:21081666   PMID:21565611   PMID:21832049   PMID:21873635   PMID:21988832   PMID:22002062   PMID:22645313   PMID:22939629  
PMID:23376485   PMID:24255178   PMID:25147182   PMID:25281560   PMID:25416956   PMID:25921289   PMID:25996949   PMID:26186194   PMID:26299517   PMID:26344197   PMID:26496610   PMID:26638075  
PMID:26972000   PMID:27499296   PMID:28302793   PMID:28330616   PMID:28514442   PMID:28515276   PMID:28611215   PMID:28718761   PMID:29331416   PMID:29426014   PMID:29467282   PMID:29507755  
PMID:29568061   PMID:30378028   PMID:30463901   PMID:30575818   PMID:30890647   PMID:30995489   PMID:30997501   PMID:31462741   PMID:31515488   PMID:31536960   PMID:31586073   PMID:31980649  
PMID:32203420   PMID:32529326   PMID:32877691  


Genomics

Comparative Map Data
ECH1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1938,815,422 - 38,831,841 (-)EnsemblGRCh38hg38GRCh38
GRCh381938,815,422 - 38,831,794 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371939,306,062 - 39,322,434 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361943,997,902 - 44,014,337 (-)NCBINCBI36hg18NCBI36
Build 341943,997,909 - 44,014,278NCBI
Celera1936,108,519 - 36,124,956 (-)NCBI
Cytogenetic Map19q13.2NCBI
HuRef1935,752,797 - 35,769,242 (-)NCBIHuRef
CHM1_11939,306,533 - 39,322,968 (-)NCBICHM1_1
Ech1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39728,524,763 - 28,531,664 (+)NCBIGRCm39mm39
GRCm39 Ensembl728,524,642 - 28,531,672 (+)Ensembl
GRCm38728,825,338 - 28,832,239 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl728,825,217 - 28,832,247 (+)EnsemblGRCm38mm10GRCm38
MGSCv37729,610,357 - 29,617,258 (+)NCBIGRCm37mm9NCBIm37
MGSCv36728,534,098 - 28,540,999 (+)NCBImm8
Celera723,386,212 - 23,393,113 (+)NCBICelera
Cytogenetic Map7B1NCBI
Ech1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2184,114,494 - 84,120,788 (+)NCBI
Rnor_6.0 Ensembl187,009,730 - 87,016,005 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0187,009,798 - 87,015,996 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0188,190,416 - 88,196,614 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4183,932,720 - 83,938,918 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1184,010,830 - 84,017,029 (+)NCBI
Celera178,504,909 - 78,511,107 (+)NCBICelera
Cytogenetic Map1q21NCBI
Ech1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955468686,171 - 692,737 (+)NCBIChiLan1.0ChiLan1.0
LOC100980944
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11944,479,555 - 44,489,355 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1944,479,561 - 44,489,355 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01935,909,348 - 35,925,686 (-)NCBIMhudiblu_PPA_v0panPan3
ECH1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11114,281,754 - 114,291,211 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Ech1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934913,352,637 - 13,357,795 (-)NCBI
SpeTri2.0NW_0049366611,780,706 - 1,785,864 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ECH1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl647,627,056 - 47,639,437 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1647,627,056 - 47,638,961 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2643,166,641 - 43,178,371 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap6q21NCBI
ECH1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1633,439,490 - 33,449,349 (-)NCBI
ChlSab1.1 Ensembl633,439,682 - 33,449,272 (-)Ensembl
Ech1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462479412,196,402 - 12,203,674 (-)NCBI

Position Markers
D1S3539  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371939,306,083 - 39,306,183UniSTSGRCh37
Build 361943,997,923 - 43,998,023RGDNCBI36
Celera1936,108,540 - 36,108,640RGD
Cytogenetic Map19q13.1UniSTS
HuRef1935,752,818 - 35,752,918UniSTS
Stanford-G3 RH Map191715.0UniSTS
NCBI RH Map19413.8UniSTS
GeneMap99-G3 RH Map191726.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4575
Count of miRNA genes:960
Interacting mature miRNAs:1219
Transcripts:ENST00000221418, ENST00000594164, ENST00000594391, ENST00000595470, ENST00000595567, ENST00000596118, ENST00000597089, ENST00000597205, ENST00000597805, ENST00000598316, ENST00000598707, ENST00000600178, ENST00000601060, ENST00000601094, ENST00000601333, ENST00000601778, ENST00000602115
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 4 5 9 1 4
Medium 2436 2982 1725 624 1942 464 4353 2188 3733 419 1450 1611 175 1 1204 2784 5 2
Low 3 8 1 9 1 4 1 1 1 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV738478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG527600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ900954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U16660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000221418   ⟹   ENSP00000221418
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1938,815,422 - 38,831,794 (-)Ensembl
RefSeq Acc Id: ENST00000594164   ⟹   ENSP00000470839
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1938,816,470 - 38,831,782 (-)Ensembl
RefSeq Acc Id: ENST00000594391
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1938,815,483 - 38,817,364 (-)Ensembl
RefSeq Acc Id: ENST00000595470   ⟹   ENSP00000470809
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1938,817,296 - 38,831,789 (-)Ensembl
RefSeq Acc Id: ENST00000595567   ⟹   ENSP00000472378
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1938,831,135 - 38,831,674 (-)Ensembl
RefSeq Acc Id: ENST00000596118
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1938,830,904 - 38,831,412 (-)Ensembl
RefSeq Acc Id: ENST00000597089
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1938,830,904 - 38,831,388 (-)Ensembl
RefSeq Acc Id: ENST00000597205   ⟹   ENSP00000471738
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1938,831,078 - 38,831,775 (-)Ensembl
RefSeq Acc Id: ENST00000597805
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1938,831,078 - 38,831,766 (-)Ensembl
RefSeq Acc Id: ENST00000598316
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1938,817,268 - 38,831,754 (-)Ensembl
RefSeq Acc Id: ENST00000598707
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1938,816,136 - 38,831,775 (-)Ensembl
RefSeq Acc Id: ENST00000600178
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1938,816,935 - 38,831,789 (-)Ensembl
RefSeq Acc Id: ENST00000601060
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1938,817,022 - 38,831,841 (-)Ensembl
RefSeq Acc Id: ENST00000601094   ⟹   ENSP00000469354
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1938,831,078 - 38,831,659 (-)Ensembl
RefSeq Acc Id: ENST00000601333
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1938,815,422 - 38,816,270 (-)Ensembl
RefSeq Acc Id: ENST00000601778   ⟹   ENSP00000472322
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1938,815,857 - 38,831,761 (-)Ensembl
RefSeq Acc Id: ENST00000602115   ⟹   ENSP00000470519
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1938,831,450 - 38,831,748 (-)Ensembl
RefSeq Acc Id: NM_001398   ⟹   NP_001389
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381938,815,422 - 38,831,794 (-)NCBI
GRCh371939,306,062 - 39,322,497 (-)RGD
Build 361943,997,902 - 44,014,337 (-)NCBI Archive
Celera1936,108,519 - 36,124,956 (-)RGD
HuRef1935,752,797 - 35,769,242 (-)RGD
CHM1_11939,306,533 - 39,322,968 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017026448   ⟹   XP_016881937
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381938,815,422 - 38,831,782 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024451408   ⟹   XP_024307176
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381938,815,422 - 38,831,792 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024451409   ⟹   XP_024307177
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381938,815,422 - 38,831,782 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001389   ⟸   NM_001398
- Peptide Label: precursor
- UniProtKB: Q13011 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016881937   ⟸   XM_017026448
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024307176   ⟸   XM_024451408
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024307177   ⟸   XM_024451409
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000472378   ⟸   ENST00000595567
RefSeq Acc Id: ENSP00000470809   ⟸   ENST00000595470
RefSeq Acc Id: ENSP00000471738   ⟸   ENST00000597205
RefSeq Acc Id: ENSP00000472322   ⟸   ENST00000601778
RefSeq Acc Id: ENSP00000469354   ⟸   ENST00000601094
RefSeq Acc Id: ENSP00000470519   ⟸   ENST00000602115
RefSeq Acc Id: ENSP00000221418   ⟸   ENST00000221418
RefSeq Acc Id: ENSP00000470839   ⟸   ENST00000594164

Promoters
RGD ID:7239837
Promoter ID:EPDNEW_H25664
Type:initiation region
Name:ECH1_2
Description:enoyl-CoA hydratase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25665  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381938,831,114 - 38,831,174EPDNEW
RGD ID:7239841
Promoter ID:EPDNEW_H25665
Type:initiation region
Name:ECH1_1
Description:enoyl-CoA hydratase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25664  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381938,831,789 - 38,831,849EPDNEW
RGD ID:6795365
Promoter ID:HG_KWN:29861
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001398
Position:
Human AssemblyChrPosition (strand)Source
Build 361944,013,941 - 44,014,441 (-)MPROMDB
RGD ID:6850670
Promoter ID:EP73129
Type:multiple initiation site
Name:HS_ECH1
Description:Enoyl Coenzyme A hydratase 1, peroxisomal.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361944,014,272 - 44,014,332EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3 copy number gain See cases [RCV000050636] Chr19:37319377..42738688 [GRCh38]
Chr19:37810279..43242840 [GRCh37]
Chr19:42502119..47934680 [NCBI36]
Chr19:19q13.12-13.2
pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31
pathogenic
GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3 copy number gain See cases [RCV000239839] Chr19:37582250..41630908 [GRCh37]
Chr19:19q13.12-13.2
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
NM_001398.3(ECH1):c.349+27C>G single nucleotide variant not provided [RCV000676163] Chr19:38831051 [GRCh38]
Chr19:39321691 [GRCh37]
Chr19:19q13.2
benign
NM_001398.3(ECH1):c.122A>C (p.Glu41Ala) single nucleotide variant not provided [RCV000676165] Chr19:38831447 [GRCh38]
Chr19:39322087 [GRCh37]
Chr19:19q13.2
benign
NM_001398.3(ECH1):c.-2C>A single nucleotide variant not provided [RCV000676166] Chr19:38831774 [GRCh38]
Chr19:39322414 [GRCh37]
Chr19:19q13.2
benign
NM_001398.3(ECH1):c.850G>A (p.Asp284Asn) single nucleotide variant not provided [RCV000676160] Chr19:38815889 [GRCh38]
Chr19:39306529 [GRCh37]
Chr19:19q13.2
benign
NM_001398.3(ECH1):c.649G>A (p.Gly217Arg) single nucleotide variant not provided [RCV000676161] Chr19:38816463 [GRCh38]
Chr19:39307103 [GRCh37]
Chr19:19q13.2
benign
NM_001398.3(ECH1):c.375G>A (p.Ser125=) single nucleotide variant not provided [RCV000676162] Chr19:38817550 [GRCh38]
Chr19:39308190 [GRCh37]
Chr19:19q13.2
benign
NM_001398.3(ECH1):c.349+9C>G single nucleotide variant not provided [RCV000676164] Chr19:38831069 [GRCh38]
Chr19:39321709 [GRCh37]
Chr19:19q13.2
uncertain significance
GRCh37/hg19 19q13.2(chr19:39282404-39310220)x1 copy number loss not provided [RCV000752678] Chr19:39282404..39310220 [GRCh37]
Chr19:19q13.2
benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3149 AgrOrtholog
COSMIC ECH1 COSMIC
Ensembl Genes ENSG00000104823 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000282853 UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000221418 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000469354 UniProtKB/TrEMBL
  ENSP00000470519 UniProtKB/TrEMBL
  ENSP00000470809 UniProtKB/TrEMBL
  ENSP00000470839 UniProtKB/TrEMBL
  ENSP00000471738 UniProtKB/TrEMBL
  ENSP00000472322 UniProtKB/TrEMBL
  ENSP00000472378 UniProtKB/TrEMBL
  ENSP00000489530 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000221418 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000594164 UniProtKB/TrEMBL
  ENST00000595470 UniProtKB/TrEMBL
  ENST00000595567 UniProtKB/TrEMBL
  ENST00000597205 UniProtKB/TrEMBL
  ENST00000601094 UniProtKB/TrEMBL
  ENST00000601778 UniProtKB/TrEMBL
  ENST00000602115 UniProtKB/TrEMBL
  ENST00000634245 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.12.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000104823 GTEx
  ENSG00000282853 GTEx
HGNC ID HGNC:3149 ENTREZGENE
Human Proteome Map ECH1 Human Proteome Map
InterPro ClpP/crotonase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Enoyl-CoA_hyd/isom_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Enoyl-CoA_hydra/iso UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Enoyl-CoA_hydra_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1891 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1891 ENTREZGENE
OMIM 600696 OMIM
Pfam ECH_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27596 PharmGKB
PROSITE ENOYL_COA_HYDRATASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52096 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A384MR44_HUMAN UniProtKB/TrEMBL
  ECH1_HUMAN UniProtKB/Swiss-Prot
  M0QXS7_HUMAN UniProtKB/TrEMBL
  M0QZF6_HUMAN UniProtKB/TrEMBL
  M0QZW4_HUMAN UniProtKB/TrEMBL
  M0QZX8_HUMAN UniProtKB/TrEMBL
  M0R1A2_HUMAN UniProtKB/TrEMBL
  M0R248_HUMAN UniProtKB/TrEMBL
  M0R280_HUMAN UniProtKB/TrEMBL
  Q13011 ENTREZGENE
UniProt Secondary A8K745 UniProtKB/Swiss-Prot
  Q8WVX0 UniProtKB/Swiss-Prot
  Q96EZ9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-05 ECH1  enoyl-CoA hydratase 1    enoyl-CoA hydratase 1, peroxisomal  Symbol and/or name change 5135510 APPROVED
2015-11-17 ECH1  enoyl-CoA hydratase 1, peroxisomal    enoyl CoA hydratase 1, peroxisomal  Symbol and/or name change 5135510 APPROVED
2011-09-01 ECH1  enoyl CoA hydratase 1, peroxisomal  ECH1  enoyl CoA hydratase 1, peroxisomal  Symbol and/or name change 5135510 APPROVED
2011-07-27 ECH1  enoyl CoA hydratase 1, peroxisomal  ECH1  enoyl Coenzyme A hydratase 1, peroxisomal  Symbol and/or name change 5135510 APPROVED