Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1962
Gene name Gene Name - the full gene name approved by the HGNC.	Enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	EHHADH
Synonyms (NCBI Gene) Gene synonyms aliases	ECHD, FRTS3, L-PBE, LBFP, LBP, MFE1, PBFE
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3q27.2
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a bifunctional enzyme and is one of the four enzymes of the peroxisomal beta-oxidation pathway. The N-terminal region of the encoded protein contains enoyl-CoA hydratase activity while the C-terminal region contains 3-h

Show/Hide all(7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs140527463	A>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs140735525	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs141355337	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs144464757	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs146431168	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs150744159	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs752275123	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant

Show/Hide all(152)

miRTarBase ID	miRNA	Experiments	Reference
MIRT036469	hsa-miR-1226-3p	CLASH	23622248
MIRT715150	hsa-miR-6889-3p	HITS-CLIP	19536157
MIRT715149	hsa-miR-4252	HITS-CLIP	19536157
MIRT715148	hsa-miR-1254	HITS-CLIP	19536157
MIRT715147	hsa-miR-3116	HITS-CLIP	19536157
MIRT715146	hsa-miR-661	HITS-CLIP	19536157
MIRT715145	hsa-miR-1291	HITS-CLIP	19536157
MIRT715144	hsa-miR-6775-3p	HITS-CLIP	19536157
MIRT715143	hsa-miR-6851-3p	HITS-CLIP	19536157
MIRT715142	hsa-miR-1271-3p	HITS-CLIP	19536157
MIRT715141	hsa-miR-550a-3-5p	HITS-CLIP	19536157
MIRT715140	hsa-miR-550a-5p	HITS-CLIP	19536157
MIRT715139	hsa-miR-6807-5p	HITS-CLIP	19536157
MIRT715138	hsa-miR-328-3p	HITS-CLIP	19536157
MIRT715137	hsa-miR-550b-2-5p	HITS-CLIP	19536157
MIRT733764	hsa-miR-486-5p	Luciferase reporter assay, qRT-PCR, Western blotting	33430801
MIRT715150	hsa-miR-6889-3p	HITS-CLIP	19536157
MIRT715149	hsa-miR-4252	HITS-CLIP	19536157
MIRT715148	hsa-miR-1254	HITS-CLIP	19536157
MIRT715147	hsa-miR-3116	HITS-CLIP	19536157
MIRT715146	hsa-miR-661	HITS-CLIP	19536157
MIRT715145	hsa-miR-1291	HITS-CLIP	19536157
MIRT715144	hsa-miR-6775-3p	HITS-CLIP	19536157
MIRT715143	hsa-miR-6851-3p	HITS-CLIP	19536157
MIRT715142	hsa-miR-1271-3p	HITS-CLIP	19536157
MIRT715141	hsa-miR-550a-3-5p	HITS-CLIP	19536157
MIRT715140	hsa-miR-550a-5p	HITS-CLIP	19536157
MIRT715139	hsa-miR-6807-5p	HITS-CLIP	19536157
MIRT715138	hsa-miR-328-3p	HITS-CLIP	19536157
MIRT715137	hsa-miR-550b-2-5p	HITS-CLIP	19536157
MIRT955591	hsa-miR-1253	CLIP-seq
MIRT955592	hsa-miR-3064-3p	CLIP-seq
MIRT955593	hsa-miR-3065-5p	CLIP-seq
MIRT955594	hsa-miR-3125	CLIP-seq
MIRT955595	hsa-miR-3140-3p	CLIP-seq
MIRT955596	hsa-miR-3149	CLIP-seq
MIRT955597	hsa-miR-3177-5p	CLIP-seq
MIRT955598	hsa-miR-3187-3p	CLIP-seq
MIRT955599	hsa-miR-3188	CLIP-seq
MIRT955600	hsa-miR-3916	CLIP-seq
MIRT955601	hsa-miR-3942-3p	CLIP-seq
MIRT955602	hsa-miR-4435	CLIP-seq
MIRT955603	hsa-miR-4511	CLIP-seq
MIRT955604	hsa-miR-4529-5p	CLIP-seq
MIRT955605	hsa-miR-4680-5p	CLIP-seq
MIRT955606	hsa-miR-4701-5p	CLIP-seq
MIRT955607	hsa-miR-4715-3p	CLIP-seq
MIRT955608	hsa-miR-487a	CLIP-seq
MIRT955609	hsa-miR-499-3p	CLIP-seq
MIRT955610	hsa-miR-499a-3p	CLIP-seq
MIRT955611	hsa-miR-548s	CLIP-seq
MIRT955612	hsa-miR-550b	CLIP-seq
MIRT955613	hsa-miR-588	CLIP-seq
MIRT955614	hsa-miR-599	CLIP-seq
MIRT955615	hsa-miR-600	CLIP-seq
MIRT955591	hsa-miR-1253	CLIP-seq
MIRT955593	hsa-miR-3065-5p	CLIP-seq
MIRT955599	hsa-miR-3188	CLIP-seq
MIRT955616	hsa-miR-3941	CLIP-seq
MIRT955617	hsa-miR-4476	CLIP-seq
MIRT955603	hsa-miR-4511	CLIP-seq
MIRT955618	hsa-miR-466	CLIP-seq
MIRT955619	hsa-miR-4672	CLIP-seq
MIRT955605	hsa-miR-4680-5p	CLIP-seq
MIRT955620	hsa-miR-4699-5p	CLIP-seq
MIRT955621	hsa-miR-4744	CLIP-seq
MIRT955609	hsa-miR-499-3p	CLIP-seq
MIRT955610	hsa-miR-499a-3p	CLIP-seq
MIRT955622	hsa-miR-591	CLIP-seq
MIRT955615	hsa-miR-600	CLIP-seq
MIRT1548244	hsa-miR-3176	CLIP-seq
MIRT1548245	hsa-miR-3663-5p	CLIP-seq
MIRT1548246	hsa-miR-371-5p	CLIP-seq
MIRT1548247	hsa-miR-371b-5p	CLIP-seq
MIRT1548248	hsa-miR-3922-3p	CLIP-seq
MIRT1548249	hsa-miR-4729	CLIP-seq
MIRT1548250	hsa-miR-4757-5p	CLIP-seq
MIRT1548251	hsa-miR-513a-3p	CLIP-seq
MIRT1920404	hsa-miR-576-5p	CLIP-seq
MIRT1920404	hsa-miR-576-5p	CLIP-seq
MIRT1920404	hsa-miR-576-5p	CLIP-seq
MIRT1983030	hsa-miR-106a	CLIP-seq
MIRT1983031	hsa-miR-106b	CLIP-seq
MIRT1983032	hsa-miR-150	CLIP-seq
MIRT1983033	hsa-miR-17	CLIP-seq
MIRT1983034	hsa-miR-1976	CLIP-seq
MIRT1983035	hsa-miR-20a	CLIP-seq
MIRT1983036	hsa-miR-20b	CLIP-seq
MIRT1983037	hsa-miR-302a	CLIP-seq
MIRT1983038	hsa-miR-302b	CLIP-seq
MIRT1983039	hsa-miR-302c	CLIP-seq
MIRT1983040	hsa-miR-302d	CLIP-seq
MIRT1983041	hsa-miR-302e	CLIP-seq
MIRT1983042	hsa-miR-3161	CLIP-seq
MIRT1983043	hsa-miR-3200-5p	CLIP-seq
MIRT1983044	hsa-miR-3607-5p	CLIP-seq
MIRT1548246	hsa-miR-371-5p	CLIP-seq
MIRT1983045	hsa-miR-372	CLIP-seq
MIRT1983046	hsa-miR-373	CLIP-seq
MIRT1983047	hsa-miR-3934	CLIP-seq
MIRT1983048	hsa-miR-4461	CLIP-seq
MIRT1983049	hsa-miR-4722-3p	CLIP-seq
MIRT1548249	hsa-miR-4729	CLIP-seq
MIRT1983050	hsa-miR-4731-5p	CLIP-seq
MIRT1983051	hsa-miR-4760-3p	CLIP-seq
MIRT1983052	hsa-miR-5095	CLIP-seq
MIRT1983053	hsa-miR-512-3p	CLIP-seq
MIRT1983054	hsa-miR-519d	CLIP-seq
MIRT1983055	hsa-miR-520a-3p	CLIP-seq
MIRT1983056	hsa-miR-520b	CLIP-seq
MIRT1983057	hsa-miR-520c-3p	CLIP-seq
MIRT1983058	hsa-miR-520d-3p	CLIP-seq
MIRT1983059	hsa-miR-520e	CLIP-seq
MIRT1983060	hsa-miR-520g	CLIP-seq
MIRT1983061	hsa-miR-520h	CLIP-seq
MIRT1983062	hsa-miR-552	CLIP-seq
MIRT1983063	hsa-miR-621	CLIP-seq
MIRT1983064	hsa-miR-93	CLIP-seq
MIRT1983030	hsa-miR-106a	CLIP-seq
MIRT1983031	hsa-miR-106b	CLIP-seq
MIRT955591	hsa-miR-1253	CLIP-seq
MIRT1983032	hsa-miR-150	CLIP-seq
MIRT1983033	hsa-miR-17	CLIP-seq
MIRT1983034	hsa-miR-1976	CLIP-seq
MIRT1983035	hsa-miR-20a	CLIP-seq
MIRT1983036	hsa-miR-20b	CLIP-seq
MIRT1983037	hsa-miR-302a	CLIP-seq
MIRT1983038	hsa-miR-302b	CLIP-seq
MIRT1983039	hsa-miR-302c	CLIP-seq
MIRT1983040	hsa-miR-302d	CLIP-seq
MIRT1983041	hsa-miR-302e	CLIP-seq
MIRT955593	hsa-miR-3065-5p	CLIP-seq
MIRT1983045	hsa-miR-372	CLIP-seq
MIRT1983046	hsa-miR-373	CLIP-seq
MIRT955603	hsa-miR-4511	CLIP-seq
MIRT955605	hsa-miR-4680-5p	CLIP-seq
MIRT1983049	hsa-miR-4722-3p	CLIP-seq
MIRT1548249	hsa-miR-4729	CLIP-seq
MIRT1983050	hsa-miR-4731-5p	CLIP-seq
MIRT1983052	hsa-miR-5095	CLIP-seq
MIRT1983053	hsa-miR-512-3p	CLIP-seq
MIRT1983054	hsa-miR-519d	CLIP-seq
MIRT1983055	hsa-miR-520a-3p	CLIP-seq
MIRT1983056	hsa-miR-520b	CLIP-seq
MIRT1983057	hsa-miR-520c-3p	CLIP-seq
MIRT1983058	hsa-miR-520d-3p	CLIP-seq
MIRT1983059	hsa-miR-520e	CLIP-seq
MIRT1983060	hsa-miR-520g	CLIP-seq
MIRT1983061	hsa-miR-520h	CLIP-seq
MIRT1983062	hsa-miR-552	CLIP-seq
MIRT955615	hsa-miR-600	CLIP-seq
MIRT1983064	hsa-miR-93	CLIP-seq

Show/Hide all(49)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IBA
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IDA	15060085
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IEA
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	ISS
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	NAS	8188243
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	TAS
GO:0004165	Function	Delta(3)-delta(2)-enoyl-CoA isomerase activity	IEA
GO:0004165	Function	Delta(3)-delta(2)-enoyl-CoA isomerase activity	ISS
GO:0004300	Function	Enoyl-CoA hydratase activity	IDA	15060085
GO:0004300	Function	Enoyl-CoA hydratase activity	IEA
GO:0004300	Function	Enoyl-CoA hydratase activity	ISS
GO:0004300	Function	Enoyl-CoA hydratase activity	NAS	8188243
GO:0005515	Function	Protein binding	IPI	25416956, 31515488, 32296183, 33961781, 36217029
GO:0005777	Component	Peroxisome	IBA
GO:0005777	Component	Peroxisome	IDA	1651711, 2895531, 9053548
GO:0005777	Component	Peroxisome	IEA
GO:0005777	Component	Peroxisome	ISS
GO:0005777	Component	Peroxisome	NAS	8188243
GO:0005782	Component	Peroxisomal matrix	IEA
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IBA
GO:0006635	Process	Fatty acid beta-oxidation	IDA	15060085
GO:0006635	Process	Fatty acid beta-oxidation	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IEA
GO:0006635	Process	Fatty acid beta-oxidation	ISS
GO:0006635	Process	Fatty acid beta-oxidation	NAS	8188243
GO:0006636	Process	Unsaturated fatty acid biosynthetic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016509	Function	Long-chain (3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IDA	15060085
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0016863	Function	Intramolecular oxidoreductase activity, transposing C=C bonds	IEA
GO:0016863	Function	Intramolecular oxidoreductase activity, transposing C=C bonds	ISS
GO:0018812	Function	3-hydroxyacyl-CoA dehydratase activity	IEA
GO:0018812	Function	3-hydroxyacyl-CoA dehydratase activity	TAS
GO:0019899	Function	Enzyme binding	IEA
GO:0019899	Function	Enzyme binding	IPI	16781659
GO:0033540	Process	Fatty acid beta-oxidation using acyl-CoA oxidase	IEA
GO:0033540	Process	Fatty acid beta-oxidation using acyl-CoA oxidase	TAS
GO:0036109	Process	Alpha-linolenic acid metabolic process	IEA
GO:0042759	Process	Long-chain fatty acid biosynthetic process	IEA
GO:0070403	Function	NAD+ binding	IEA
GO:1901570	Process	Fatty acid derivative biosynthetic process	IEA

MIM	HGNC	e!Ensembl
607037	3247	ENSG00000113790

Protein

UniProt ID

Q08426

Protein name

Peroxisomal bifunctional enzyme (PBE) (PBFE) (L-bifunctional protein) (LBP) (Multifunctional enzyme 1) (MFE1) [Includes: Enoyl-CoA hydratase/3,2-trans-enoyl-CoA isomerase (EC 4.2.1.17) (EC 5.3.3.8); 3-hydroxyacyl-CoA dehydrogenase (EC 1.1.1.35)]

Protein function

Peroxisomal trifunctional enzyme possessing 2-enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and delta 3, delta 2-enoyl-CoA isomerase activities. Catalyzes two of the four reactions of the long chain fatty acids peroxisomal beta-oxidation

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00378	ECH_1	6 → 215	Enoyl-CoA hydratase/isomerase	Domain
PF02737	3HCDH_N	299 → 476	3-hydroxyacyl-CoA dehydrogenase, NAD binding domain	Domain
PF00725	3HCDH	478 → 582	3-hydroxyacyl-CoA dehydrogenase, C-terminal domain	Domain
PF00725	3HCDH	619 → 715	3-hydroxyacyl-CoA dehydrogenase, C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Liver and kidney. Strongly expressed in the terminal segments of the proximal tubule. Lower amounts seen in the brain. {ECO:0000269|PubMed:24401050, ECO:0000269|PubMed:8188243}.

Sequence

MAEYTRLHNALALIRLRNPPVNAISTTLLRDIKEGLQKAVIDHTIKAIVICGAEGKFSAG
ADIRGFSAPRTFGLTLGHVVDEIQRNEKPVVAAIQGMAFGGGLELALGCHYRIAHAEAQV
GLPEVTLGLLPGARGTQLLPRLTGVPAALDLITSGRRILADEALKLGILDKVVNSDPVEE
AIRFAQRVSDQPLESRRLCNKPIQSLPNMDSIFSEALLKMRRQHPGCLAQEACVRAVQAA
VQYPYEVGIKKEEELFLYLLQSGQARALQYAFFAERKANKWSTPSGASWKTASARPVSSV
GVVGLGTMGRGIVISFARARIPVIAVDSDKNQLATANKMITSVLEKEASKMQQSGHPWSG
PKPRLTSSVKELGGVDLVIEAVFEEMSLKKQVFAELSAVCKPEAFLCTNTSALDVDEIAS
STDRPHLVIGTHFFSPAHVMKLLEVIPSQYSSPTTIATVMNLSKKIKKIGVVVGNCFGFV
GNRMLNPYYNQAYFLLEEGSKPEEVDQVLEEFGFKMGPFRVSDLAGLDVGWKSRKGQGLT
GPTLLPGTPARKRGNRRYCPIPDVLCELGRFGQKTGKGWYQYDKPLGRIHKPDPWLSKFL
SRYRKTHHIEPRTISQDEILERCLYSLINEAFRILGEGIAASPEHIDVVYLHGYGWPRHK
GGPMFYASTVGLPTVLEKLQKYYRQNPDIPQLEPSDYLKKLASQGNPPLKEWQSLAGSPS
SKL

Sequence length

723

Interactions

View interactions

	KEGG		Reactome
	Fatty acid degradation Valine, leucine and isoleucine degradation Lysine degradation Tryptophan metabolism beta-Alanine metabolism Propanoate metabolism Butanoate metabolism Metabolic pathways Fatty acid metabolism PPAR signaling pathway Peroxisome		Beta-oxidation of very long chain fatty acids Peroxisomal protein import

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Fanconi Syndrome	fanconi renotubular syndrome 3	rs398124646	N/A

Show/Hide Unknown Diseases (7)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Cholestasis	cholestasis	N/A	N/A	ClinVar
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Insomnia	Insomnia	N/A	N/A	GWAS
Kidney Disease	Chronic kidney disease	N/A	N/A	ClinVar
Mental Depression	Major depressive disorder	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Aortic Valve Disease	Associate	27250500
Carcinogenesis	Associate	33997049
Carcinoma Hepatocellular	Associate	28430663, 30341252, 30680535, 34664394, 38637116
Diabetic Nephropathies	Associate	34215202
Mitral Valve Insufficiency	Associate	27250500
Neoplasm Metastasis	Associate	28430663
Neoplasms	Associate	17552011, 33997049
Neoplasms	Inhibit	38637116
Neoplastic Cells Circulating	Associate	34664394
Neurologic Manifestations	Associate	9553139
Osteosarcoma	Associate	33997049

EHHADH (enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase)