Ehhadh MGI Mouse Gene Detail - MGI:1277964 - enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase

Symbol

Ehhadh
Name

enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase
Synonyms

1300002P22Rik, HD, L-bifunctional enzyme, L-PBE, MFP, MFP1

Feature Type

protein coding gene
IDs

MGI:1277964
NCBI Gene: 74147
Alliance

gene page
Transcription Start Sites

11 TSS

Sequence Map

Chr16:21580037-21606557 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 16, 12.86 cM, cytoband B1
Mapping Data

2 experiments

SNPs within 2kb

826 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1277964	protein coding gene	Chr16:21580035-21606589 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0022661	protein coding gene	Chr16:19195841-19224859 (-)
A/J	MGP_AJ_G0022623	protein coding gene	Chr16:18284763-18311267 (-)
AKR/J	MGP_AKRJ_G0022598	protein coding gene	Chr16:19052051-19080377 (-)
BALB/cJ	MGP_BALBcJ_G0022627	protein coding gene	Chr16:18478122-18509053 (-)
C3H/HeJ	MGP_C3HHeJ_G0022392	protein coding gene	Chr16:19148527-19179702 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0023078	protein coding gene	Chr16:19606476-19634629 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0020596	protein coding gene	Chr16:18981441-19006738 (-)
CAST/EiJ	MGP_CASTEiJ_G0021922	protein coding gene	Chr16:19140313-19167657 (-)
CBA/J	MGP_CBAJ_G0022364	protein coding gene	Chr16:20428446-20460942 (-)
DBA/2J	MGP_DBA2J_G0022496	protein coding gene	Chr16:18269419-18295867 (-)
FVB/NJ	MGP_FVBNJ_G0022471	protein coding gene	Chr16:18238345-18264595 (-)
LP/J	MGP_LPJ_G0022563	protein coding gene	Chr16:18948919-18977735 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0022491	protein coding gene	Chr16:20021033-20060832 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023089	protein coding gene	Chr16:18994263-19021057 (-)
PWK/PhJ	MGP_PWKPhJ_G0021662	protein coding gene	Chr16:18499892-18528906 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0021492	protein coding gene	Chr16:18771595-18800770 (-)
WSB/EiJ	MGP_WSBEiJ_G0021965	protein coding gene	Chr16:18959578-18987610 (-)

Human Ortholog

EHHADH, enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

EHHADH, enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
Synonyms

ECHD, FRTS3, LBFP, LBP, L-PBE, MFE1, PBFE
Links

HGNC:3247

NCBI Gene ID: 1962

neXtProt AC: NX_Q08426

UniProt: Q08426
Chr Location

3q27.2; chr3:185190624-185281990 (-) GRCh38

MGI Vertebrate Homology

Ehhadh stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: EHHADH
Gene Tree

Ehhadh

Diseases

1 with human EHHADH associations

				Human Disease	Mouse Models
				Fanconi renotubular syndrome 3 IDs Fanconi renotubular syndrome 3 DOID:0080759 OMIM:615605

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

1 with disease annotations

References

2 with disease annotations

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Phenotype Summary

4 phenotypes from 2 alleles in 2 genetic backgrounds
14 phenotypes from multigenic genotypes
3 images
16 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

5
Targeted

5
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

39 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for disruption of this gene display a normal phenotype.

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All GO Annotations

38
GO References

11

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

926
Tissues

140
cDNA Data

84
Literature Summary

13

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ehhadh

ZFIN ehhadh

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All Sequences

32
RefSeq

4
UniProt

2
CCDS

CCDS28063.1

Ensembl

ENSMUSG00000022853 (Evidence)
NCBI Gene

74147

			Length	Strain/Species	Flank
genomic	ENSMUSG00000022853	Ensembl Gene Model \| MGI Sequence Detail	26521	C57BL/6J	± kb
transcript	ENSMUST00000023559	Ensembl \| MGI Sequence Detail	2981	Not Applicable
polypeptide	ENSMUSP00000023559	Ensembl \| MGI Sequence Detail	718	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000006947 peroxisomal bifunctional enzyme

(term hierarchy)
EC

1.1.1.35, 4.2.1.17, 5.3.3.8
InterPro Domains

IPR006180 3-hydroxyacyl-CoA dehydrogenase, conserved site

IPR006108 3-hydroxyacyl-CoA dehydrogenase, C-terminal

IPR006176 3-hydroxyacyl-CoA dehydrogenase, NAD binding

IPR008927 6-phosphogluconate dehydrogenase-like, C-terminal domain superfamily

IPR029045 ClpP/crotonase-like domain superfamily

IPR001753 Enoyl-CoA hydratase/isomerase

IPR018376 Enoyl-CoA hydratase/isomerase, conserved site

IPR036291 NAD(P)-binding domain superfamily
GlyGen

Q9DBM2 1 site, 1 O-linked glycan (1 site)

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All nucleic 88

cDNA 84

Primer pair 3

Other 1

Microarray probesets 3

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MGI:1921397

Summaries

All 58

Developmental Gene Expression 13

Diseases 2

Gene Ontology 11

Phenotypes 16
Earliest

J:55395 Qi C, et al., Absence of spontaneous peroxisome proliferation in enoyl-CoA Hydratase/L-3-hydroxyacyl-CoA dehydrogenase-deficient mouse liver. Further support for the role of fatty acyl CoA oxidase in PPARalpha ligand metabolism. J Biol Chem. 1999 May 28;274(22):15775-80
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Ehhadh:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr140440	Chr16:21606546-21606563 (-)	2 bp
Tssr140439	Chr16:21599072-21599076 (-)	7,483 bp
Tssr140438	Chr16:21594239-21594245 (-)	12,315 bp
Tssr140437	Chr16:21585297-21585324 (-)	21,246 bp
Tssr140436	Chr16:21581731-21581765 (-)	24,809 bp
Tssr140435	Chr16:21581657-21581661 (-)	24,898 bp
Tssr140434	Chr16:21581645-21581655 (-)	24,907 bp
Tssr140433	Chr16:21581356-21581363 (-)	25,197 bp
Tssr140432	Chr16:21581329-21581336 (-)	25,224 bp
Tssr140431	Chr16:21580936-21580955 (-)	25,611 bp
Tssr140430	Chr16:21580621-21580626 (-)	25,933 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24