EHHADH

Functionⁱ

Miscellaneous

Absent in patients suffering with peroxisomal disorders such as Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease.

Catalytic activityⁱ

(3S)-3-hydroxyacyl-CoA = trans-2(or 3)-enoyl-CoA + H₂O.

A (3Z)-alk-3-enoyl-CoA = a (2E)-alk-2-enoyl-CoA.

A (3E)-alk-3-enoyl-CoA = a (2E)-alk-2-enoyl-CoA.

(S)-3-hydroxyacyl-CoA + NAD⁺ = 3-oxoacyl-CoA + NADH.

Activity regulationⁱ

Pathwayⁱ: fatty acid beta-oxidation

This protein is involved in the pathway fatty acid beta-oxidation, which is part of Lipid metabolism.
View all proteins of this organism that are known to be involved in the pathway fatty acid beta-oxidation and in Lipid metabolism.

Sites

Feature key	Position(s)	DescriptionActions	Length
Binding siteⁱ	101	Substrate; via amide nitrogenBy similarity	1
Siteⁱ	104	Important for catalytic activityBy similarity	1
Siteⁱ	124	Important for catalytic activityBy similarity	1

GO - Molecular functionⁱ

3-hydroxyacyl-CoA dehydrogenase activity
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
dodecenoyl-CoA delta-isomerase activity Source: UniProtKB-EC
enoyl-CoA hydratase activity
Source: UniProtKB
Non-traceable author statementⁱ
- 8188243
enzyme binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 16781659
long-chain-enoyl-CoA hydratase activity Source: Reactome
signaling receptor binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 20178365

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

fatty acid beta-oxidation
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
fatty acid beta-oxidation using acyl-CoA oxidase Source: Reactome
internal protein amino acid acetylation
Source: UniProtKB
Inferred from direct assayⁱ
- 20167786
protein targeting to peroxisome Source: Reactome

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Isomerase, Lyase, Multifunctional enzyme, Oxidoreductase
Biological process	Fatty acid metabolism, Lipid metabolism
Ligand	NAD

Enzyme and pathway databases

BioCycⁱ	MetaCyc:HS03720-MONOMER
Reactomeⁱ	R-HSA-390247 Beta-oxidation of very long chain fatty acids R-HSA-9033241 Peroxisomal protein import
SABIO-RKⁱ	Q08426
UniPathwayⁱ	UPA00659

Chemistry databases

SwissLipidsⁱ	SLP:000000543

SwissLipidsⁱ

SLP:000000543

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Peroxisomal bifunctional enzyme Short name: PBE Short name: PBFE Including the following 2 domains: 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)
Gene namesⁱ	Name:EHHADH Synonyms:ECHD
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 3

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000113790.10
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:3247 EHHADH
MIMⁱ	607037 gene
neXtProtⁱ	NX_Q08426

Keywords - Cellular componentⁱ

Peroxisome

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Fanconi renotubular syndrome 3 (FRTS3)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency.

Mutagenesis

Feature key	Position(s)	DescriptionActions	Length
Mutagenesisⁱ	165	K → Q: Greatly reduced acetylation and insensitive to treatment with TSA and NAM; when associated with Q-171; Q-346 and Q-584. 1 Publication	1
Mutagenesisⁱ	171	K → Q: Greatly reduced acetylation and insensitive to treatment with TSA and NAM; when associated with Q-165; Q-346 and Q-584. 1 Publication	1
Mutagenesisⁱ	346	K → Q: Greatly reduced acetylation and insensitive to treatment with TSA and NAM; when associated with Q-165; Q-171 and Q-584. 1 Publication	1
Mutagenesisⁱ	584	K → Q: Greatly reduced acetylation and insensitive to treatment with TSA and NAM; when associated with Q-165; Q-171 and Q-346. 1 Publication	1

Keywords - Diseaseⁱ

Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	1962 51807
MalaCards human disease database More...MalaCardsⁱ	EHHADH
MIMⁱ	615605 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000113790
Orphanetⁱ	300 Bifunctional enzyme deficiency 3337 Primary Fanconi syndrome
PharmGKBⁱ	PA27682

Chemistry databases

Drug and drug target database More...DrugBankⁱ	DB00157 NADH

DrugBankⁱ

DB00157 NADH

Polymorphism and mutation databases

BioMutaⁱ	EHHADH
DMDMⁱ	223590229

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000109247	1 – 723	Peroxisomal bifunctional enzymeAdd BLAST		723

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Modified residueⁱ	38	N6-succinyllysineBy similarity	1
Modified residueⁱ	165	N6-acetyllysine; alternate1 Publication	1
Modified residueⁱ	165	N6-succinyllysine; alternateBy similarity	1
Modified residueⁱ	171	N6-acetyllysine1 Publication	1
Modified residueⁱ	219	N6-acetyllysine; alternateBy similarity	1
Modified residueⁱ	219	N6-succinyllysine; alternateBy similarity	1
Modified residueⁱ	250	N6-acetyllysineBy similarity	1
Modified residueⁱ	280	N6-succinyllysineBy similarity	1
Modified residueⁱ	290	N6-succinyllysineBy similarity	1
Modified residueⁱ	346	N6-acetyllysine1 Publication	1
Modified residueⁱ	350	N6-acetyllysineBy similarity	1
Modified residueⁱ	464	N6-acetyllysineBy similarity	1
Modified residueⁱ	532	N6-succinyllysineBy similarity	1
Modified residueⁱ	548	PhosphothreonineCombined sources	1
Modified residueⁱ	577	N6-succinyllysineBy similarity	1
Modified residueⁱ	584	N6-acetyllysine; alternateCombined sources1 Publication	1
Modified residueⁱ	584	N6-succinyllysine; alternateBy similarity	1
Modified residueⁱ	591	N6-acetyllysine; alternateBy similarity	1
Modified residueⁱ	591	N6-succinyllysine; alternateBy similarity	1
Modified residueⁱ	710	N6-acetyllysine; alternateBy similarity	1
Modified residueⁱ	710	N6-succinyllysine; alternateBy similarity	1
Modified residueⁱ	718	PhosphoserineCombined sources	1
Modified residueⁱ	722	N6-succinyllysineBy similarity	1

Post-translational modificationⁱ

Acetylated, leading to enhanced enzyme activity. Acetylation is enhanced by up to 80% after treatment either with trichostin A (TSA) or with nicotinamide (NAM) with highest increase on Lys-346. Acetylation and enzyme activity increased by about 1.5% on addition of fatty acids.1 Publication

Keywords - PTMⁱ

Acetylation, Phosphoprotein

Proteomic databases

EPDⁱ	Q08426
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q08426
PaxDbⁱ	Q08426
PeptideAtlas More...PeptideAtlasⁱ	Q08426
PRIDEⁱ	Q08426
ProteomicsDBⁱ	58608 58609 [Q08426-2]

PTM databases

iPTMnetⁱ	Q08426
PhosphoSitePlusⁱ	Q08426

Expressionⁱ

Tissue specificityⁱ

Liver and kidney. Strongly expressed in the terminal segments of the proximal tubule. Lower amounts seen in the brain.2 Publications

Gene expression databases

Bgeeⁱ	ENSG00000113790 Expressed in 197 organ(s), highest expression level in liver
CleanExⁱ	HS_EHHADH
ExpressionAtlasⁱ	Q08426 baseline and differential
Genevisibleⁱ	Q08426 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA036401 HPA042021

HPAⁱ

HPA036401
HPA042021

Interactionⁱ

Subunit structureⁱ

Monomer.

Binary interactionsⁱ

With	Entry	#Exp.	IntAct
ACTG1	P63261	3	EBI-2339219,EBI-351292
BHLHE40	O14503	3	EBI-2339219,EBI-711810
CBS	P35520	3	EBI-2339219,EBI-740135
CCDC102B	Q68D86	3	EBI-2339219,EBI-10171570
DES	P17661	5	EBI-2339219,EBI-1055572
FUNDC1	Q8IVP5	3	EBI-2339219,EBI-3059266
KCTD6	Q8NC69	3	EBI-2339219,EBI-2511344
KCTD9	Q7L273	3	EBI-2339219,EBI-4397613
KRTAP10-7	P60409	3	EBI-2339219,EBI-10172290
LZTS2	Q9BRK4	3	EBI-2339219,EBI-741037
MID1	O15344	5	EBI-2339219,EBI-2340316
NECAB2	Q7Z6G3-2	3	EBI-2339219,EBI-10172876
PNMA1	Q8ND90	3	EBI-2339219,EBI-302345
PS1TP5BP1	Q1KLZ0	3	EBI-2339219,EBI-9978131
SSNA1	O43805	3	EBI-2339219,EBI-2515299
SSX2IP	Q9Y2D8	3	EBI-2339219,EBI-2212028
TNIP1	Q15025	3	EBI-2339219,EBI-357849
TPP2	P29144	3	EBI-2339219,EBI-1044672
TRAF1	Q13077	3	EBI-2339219,EBI-359224
TRIM27	P14373	5	EBI-2339219,EBI-719493
TRIM41	Q8WV44	5	EBI-2339219,EBI-725997
TRIM54	Q9BYV2	3	EBI-2339219,EBI-2130429
ZBTB9	Q96C00	5	EBI-2339219,EBI-395708

GO - Molecular functionⁱ

enzyme binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 16781659
signaling receptor binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 20178365

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	108282, 31 interactors
IntActⁱ	Q08426, 97 interactors
STRINGⁱ	9606.ENSP00000231887

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q08426
SMRⁱ	Q08426
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Region

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Regionⁱ	1 – 282	Enoyl-CoA hydratase / isomeraseAdd BLAST		282
Regionⁱ	283 – 572	3-hydroxyacyl-CoA dehydrogenaseAdd BLAST		290

Motif

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Motifⁱ	721 – 723	Microbody targeting signal		3

Sequence similaritiesⁱ

In the N-terminal section; belongs to the enoyl-CoA hydratase/isomerase family.Curated

In the C-terminal section; belongs to the 3-hydroxyacyl-CoA dehydrogenase family.Curated

Phylogenomic databases

eggNOGⁱ	KOG1683 Eukaryota COG1024 LUCA COG1250 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00880000137923
HOGENOMⁱ	HOG000261347
HOVERGENⁱ	HBG104990
InParanoidⁱ	Q08426
KEGG Orthology (KO) More...KOⁱ	K07514
OMAⁱ	IDLCMIL
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G082G
PhylomeDBⁱ	Q08426
TreeFamⁱ	TF316708

Family and domain databases

InterProⁱ	View protein in InterPro IPR006180 3-OHacyl-CoA_DH_CS IPR006176 3-OHacyl-CoA_DH_NAD-bd IPR006108 3HC_DH_C IPR008927 6-PGluconate_DH-like_C_sf IPR029045 ClpP/crotonase-like_dom_sf IPR018376 Enoyl-CoA_hyd/isom_CS IPR001753 Enoyl-CoA_hydra/iso IPR036291 NAD(P)-bd_dom_sf
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00725 3HCDH, 2 hits PF02737 3HCDH_N, 1 hit PF00378 ECH_1, 1 hit
SUPFAMⁱ	SSF48179 SSF48179, 2 hits SSF51735 SSF51735, 1 hit SSF52096 SSF52096, 1 hit
PROSITEⁱ	View protein in PROSITE PS00067 3HCDH, 1 hit PS00166 ENOYL_COA_HYDRATASE, 1 hit

Sequences (2+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show all Align All

Isoform 1 (identifier: Q08426-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAEYTRLHNA LALIRLRNPP VNAISTTLLR DIKEGLQKAV IDHTIKAIVI 
        60         70         80         90        100
CGAEGKFSAG ADIRGFSAPR TFGLTLGHVV DEIQRNEKPV VAAIQGMAFG 
       110        120        130        140        150
GGLELALGCH YRIAHAEAQV GLPEVTLGLL PGARGTQLLP RLTGVPAALD 
       160        170        180        190        200
LITSGRRILA DEALKLGILD KVVNSDPVEE AIRFAQRVSD QPLESRRLCN 
       210        220        230        240        250
KPIQSLPNMD SIFSEALLKM RRQHPGCLAQ EACVRAVQAA VQYPYEVGIK 
       260        270        280        290        300
KEEELFLYLL QSGQARALQY AFFAERKANK WSTPSGASWK TASARPVSSV 
       310        320        330        340        350
GVVGLGTMGR GIVISFARAR IPVIAVDSDK NQLATANKMI TSVLEKEASK 
       360        370        380        390        400
MQQSGHPWSG PKPRLTSSVK ELGGVDLVIE AVFEEMSLKK QVFAELSAVC 
       410        420        430        440        450
KPEAFLCTNT SALDVDEIAS STDRPHLVIG THFFSPAHVM KLLEVIPSQY 
       460        470        480        490        500
SSPTTIATVM NLSKKIKKIG VVVGNCFGFV GNRMLNPYYN QAYFLLEEGS 
       510        520        530        540        550
KPEEVDQVLE EFGFKMGPFR VSDLAGLDVG WKSRKGQGLT GPTLLPGTPA 
       560        570        580        590        600
RKRGNRRYCP IPDVLCELGR FGQKTGKGWY QYDKPLGRIH KPDPWLSKFL 
       610        620        630        640        650
SRYRKTHHIE PRTISQDEIL ERCLYSLINE AFRILGEGIA ASPEHIDVVY 
       660        670        680        690        700
LHGYGWPRHK GGPMFYASTV GLPTVLEKLQ KYYRQNPDIP QLEPSDYLKK 
       710        720 
LASQGNPPLK EWQSLAGSPS SKL

Length:723

Mass (Da):79,495

Last modified:February 10, 2009 - v3

Checksum:ⁱFC3B44B030A7BCBD

GO

Isoform 2 (identifier: Q08426-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-96: Missing.

« Hide

        10         20         30         40         50
MAFGGGLELA LGCHYRIAHA EAQVGLPEVT LGLLPGARGT QLLPRLTGVP 
        60         70         80         90        100
AALDLITSGR RILADEALKL GILDKVVNSD PVEEAIRFAQ RVSDQPLESR 
       110        120        130        140        150
RLCNKPIQSL PNMDSIFSEA LLKMRRQHPG CLAQEACVRA VQAAVQYPYE 
       160        170        180        190        200
VGIKKEEELF LYLLQSGQAR ALQYAFFAER KANKWSTPSG ASWKTASARP 
       210        220        230        240        250
VSSVGVVGLG TMGRGIVISF ARARIPVIAV DSDKNQLATA NKMITSVLEK 
       260        270        280        290        300
EASKMQQSGH PWSGPKPRLT SSVKELGGVD LVIEAVFEEM SLKKQVFAEL 
       310        320        330        340        350
SAVCKPEAFL CTNTSALDVD EIASSTDRPH LVIGTHFFSP AHVMKLLEVI 
       360        370        380        390        400
PSQYSSPTTI ATVMNLSKKI KKIGVVVGNC FGFVGNRMLN PYYNQAYFLL 
       410        420        430        440        450
EEGSKPEEVD QVLEEFGFKM GPFRVSDLAG LDVGWKSRKG QGLTGPTLLP 
       460        470        480        490        500
GTPARKRGNR RYCPIPDVLC ELGRFGQKTG KGWYQYDKPL GRIHKPDPWL 
       510        520        530        540        550
SKFLSRYRKT HHIEPRTISQ DEILERCLYS LINEAFRILG EGIAASPEHI 
       560        570        580        590        600
DVVYLHGYGW PRHKGGPMFY ASTVGLPTVL EKLQKYYRQN PDIPQLEPSD 
       610        620 
YLKKLASQGN PPLKEWQSLA GSPSSKL

Show »

Length:627

Mass (Da):69,154

Checksum:ⁱF1F1A30F0E89ED98

GO

Computationally mapped potential isoform sequencesⁱ

There is 1 potential isoform mapped to this entry.BLAST Align Show all Add to basket

	Entry	Entry name		Protein names	Gene names	Length	Annotation

	C9JJE0	C9JJE0_HUMAN		Peroxisomal bifunctional enzyme Peroxisomal bifunctional enzyme	EHHADH	76	Annotation score:

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	117	E → D in AAA53289 (PubMed:8188243).Curated	1
Sequence conflictⁱ	656 – 657	WP → CA in AAA53289 (PubMed:8188243).Curated	2
Sequence conflictⁱ	656 – 657	WP → CA in AAB19482 (PubMed:15489334).Curated	2

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_070949	3	E → K in FRTS3; the mutant is mistargeted to mitochondria; results in impaired mitochondrial oxidative phosphorylation and defects in the transport of fluids across the epithelium of renal proximal tubular cells. 1 PublicationCorresponds to variant dbSNP:rs398124646EnsemblClinVar.	1
Natural variantⁱVAR_054329	40	V → G1 PublicationCorresponds to variant dbSNP:rs1062551Ensembl.	1
Natural variantⁱVAR_054330	41	I → R1 PublicationCorresponds to variant dbSNP:rs1062552Ensembl.	1
Natural variantⁱVAR_047132	75	T → I1 PublicationCorresponds to variant dbSNP:rs1062553Ensembl.	1
Natural variantⁱVAR_047133	274	A → T1 PublicationCorresponds to variant dbSNP:rs2302819Ensembl.	1
Natural variantⁱVAR_054331	325	A → G1 PublicationCorresponds to variant dbSNP:rs1062555Ensembl.	1
Natural variantⁱVAR_054332	598	K → T2 PublicationsCorresponds to variant dbSNP:rs1042437Ensembl.	1
Natural variantⁱVAR_047134	606	T → P2 PublicationsCorresponds to variant dbSNP:rs1042438Ensembl.	1
Natural variantⁱVAR_047135	685	Q → K. Corresponds to variant dbSNP:rs11919970Ensembl.	1
Natural variantⁱVAR_047136	715	L → S. Corresponds to variant dbSNP:rs11927618Ensembl.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_042811	1 – 96	Missing in isoform 2. 1 PublicationAdd BLAST		96

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	L07077 mRNA Translation: AAA53289.1 AJ427345 AJ427351 Genomic DNA Translation: CAD22483.1 AK291798 mRNA Translation: BAF84487.1 AK223460 mRNA Translation: BAD97180.1 AK301521 mRNA Translation: BAG63025.1 AC007934 Genomic DNA No translation available. AC128680 Genomic DNA No translation available. CH471052 Genomic DNA Translation: EAW78229.1 CH471052 Genomic DNA Translation: EAW78230.1 BC038948 mRNA Translation: AAH38948.1 BC110460 mRNA Translation: AAI10461.1 S50245 mRNA Translation: AAB19482.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS33901.1 [Q08426-1] CCDS54694.1 [Q08426-2]
PIRⁱ	A49613
NCBI Reference Sequences More...RefSeqⁱ	NP_001159887.1, NM_001166415.1 [Q08426-2] NP_001957.2, NM_001966.3 [Q08426-1] XP_011510819.1, XM_011512517.1
UniGeneⁱ	Hs.429879

Genome annotation databases

Ensemblⁱ	ENST00000231887; ENSP00000231887; ENSG00000113790 [Q08426-1] ENST00000456310; ENSP00000387746; ENSG00000113790 [Q08426-2]
GeneIDⁱ	1962
KEGGⁱ	hsa:1962
UCSC genome browser More...UCSCⁱ	uc003fpf.3 human [Q08426-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q08426	Isoform 2 of Peroxisomal bifunctional enzyme		HUMAN		627	UniRef100_Q08426
UPI0003EAF5FC		HUMAN		515

Protein	Similar proteins		Species	Score	Length	Source
Q08426	Peroxisomal bifunctional enzyme		PONAB		723	UniRef90_Q08426
Isoform 2 of Peroxisomal bifunctional enzyme		HUMAN		627
Uncharacterized protein		MACFA		877
Dodecenoyl-CoA delta-isomerase / enoyl-CoA hydratase / 3-hydroxyacyl-CoA dehydrogenase, peroxisomal (Fragment)		MOUSE		14
Enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase		MACMU		723
+36

Protein	Similar proteins		Species	Score	Length	Source
Q08426	Peroxisomal bifunctional enzyme		PONAB		723	UniRef50_Q08426
Peroxisomal bifunctional enzyme		DANRE		718
Peroxisomal bifunctional enzyme		CAVPO		726
Peroxisomal bifunctional enzyme	)	RAT		722
Peroxisomal bifunctional enzyme		MOUSE		718
+364

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	L07077 mRNA Translation: AAA53289.1 AJ427345 AJ427351 Genomic DNA Translation: CAD22483.1 AK291798 mRNA Translation: BAF84487.1 AK223460 mRNA Translation: BAD97180.1 AK301521 mRNA Translation: BAG63025.1 AC007934 Genomic DNA No translation available. AC128680 Genomic DNA No translation available. CH471052 Genomic DNA Translation: EAW78229.1 CH471052 Genomic DNA Translation: EAW78230.1 BC038948 mRNA Translation: AAH38948.1 BC110460 mRNA Translation: AAI10461.1 S50245 mRNA Translation: AAB19482.1
CCDSⁱ	CCDS33901.1 [Q08426-1] CCDS54694.1 [Q08426-2]
PIRⁱ	A49613
RefSeqⁱ	NP_001159887.1, NM_001166415.1 [Q08426-2] NP_001957.2, NM_001966.3 [Q08426-1] XP_011510819.1, XM_011512517.1
UniGeneⁱ	Hs.429879

3D structure databases

ProteinModelPortalⁱ	Q08426
SMRⁱ	Q08426
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	108282, 31 interactors
IntActⁱ	Q08426, 97 interactors
STRINGⁱ	9606.ENSP00000231887

Chemistry databases

DrugBankⁱ	DB00157 NADH
SwissLipidsⁱ	SLP:000000543

PTM databases

iPTMnetⁱ	Q08426
PhosphoSitePlusⁱ	Q08426

Polymorphism and mutation databases

BioMutaⁱ	EHHADH
DMDMⁱ	223590229

Proteomic databases

EPDⁱ	Q08426
MaxQBⁱ	Q08426
PaxDbⁱ	Q08426
PeptideAtlasⁱ	Q08426
PRIDEⁱ	Q08426
ProteomicsDBⁱ	58608 58609 [Q08426-2]

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	1962
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000231887; ENSP00000231887; ENSG00000113790 [Q08426-1] ENST00000456310; ENSP00000387746; ENSG00000113790 [Q08426-2]
GeneIDⁱ	1962
KEGGⁱ	hsa:1962
UCSCⁱ	uc003fpf.3 human [Q08426-1]

Organism-specific databases

CTDⁱ	1962
DisGeNETⁱ	1962 51807
EuPathDBⁱ	HostDB:ENSG00000113790.10
GeneCardsⁱ	EHHADH
HGNCⁱ	HGNC:3247 EHHADH
HPAⁱ	HPA036401 HPA042021
MalaCardsⁱ	EHHADH
MIMⁱ	607037 gene 615605 phenotype
neXtProtⁱ	NX_Q08426
OpenTargetsⁱ	ENSG00000113790
Orphanetⁱ	300 Bifunctional enzyme deficiency 3337 Primary Fanconi syndrome
PharmGKBⁱ	PA27682
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG1683 Eukaryota COG1024 LUCA COG1250 LUCA
GeneTreeⁱ	ENSGT00880000137923
HOGENOMⁱ	HOG000261347
HOVERGENⁱ	HBG104990
InParanoidⁱ	Q08426
KOⁱ	K07514
OMAⁱ	IDLCMIL
OrthoDBⁱ	EOG091G082G
PhylomeDBⁱ	Q08426
TreeFamⁱ	TF316708

Enzyme and pathway databases

UniPathwayⁱ	UPA00659
BioCycⁱ	MetaCyc:HS03720-MONOMER
Reactomeⁱ	R-HSA-390247 Beta-oxidation of very long chain fatty acids R-HSA-9033241 Peroxisomal protein import
SABIO-RKⁱ	Q08426

Miscellaneous databases

GenomeRNAiⁱ	1962
Protein Ontology More...PROⁱ	PR:Q08426
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000113790 Expressed in 197 organ(s), highest expression level in liver
CleanExⁱ	HS_EHHADH
ExpressionAtlasⁱ	Q08426 baseline and differential
Genevisibleⁱ	Q08426 HS

Family and domain databases

InterProⁱ	View protein in InterPro IPR006180 3-OHacyl-CoA_DH_CS IPR006176 3-OHacyl-CoA_DH_NAD-bd IPR006108 3HC_DH_C IPR008927 6-PGluconate_DH-like_C_sf IPR029045 ClpP/crotonase-like_dom_sf IPR018376 Enoyl-CoA_hyd/isom_CS IPR001753 Enoyl-CoA_hydra/iso IPR036291 NAD(P)-bd_dom_sf
Pfamⁱ	View protein in Pfam PF00725 3HCDH, 2 hits PF02737 3HCDH_N, 1 hit PF00378 ECH_1, 1 hit
SUPFAMⁱ	SSF48179 SSF48179, 2 hits SSF51735 SSF51735, 1 hit SSF52096 SSF52096, 1 hit
PROSITEⁱ	View protein in PROSITE PS00067 3HCDH, 1 hit PS00166 ENOYL_COA_HYDRATASE, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	ECHP_HUMAN
Accessionⁱ	Q08426Primary (citable) accession number: Q08426 Secondary accession number(s): A8K6Y3 , B4DWG3, D3DNU0, Q58EZ5
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	October 1, 1994
	Last sequence update:	February 10, 2009
	Last modified:	October 10, 2018
	This is version 189 of the entry and version 3 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

Complete proteome, Reference proteome

Documents

SIMILARITY comments
Index of protein domains and families
Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
PATHWAY comments
Index of metabolic and biosynthesis pathways

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UniProtKB - Q08426 (ECHP_HUMAN)

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Peroxisomal bifunctional enzyme

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Miscellaneous

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<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

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Functionⁱ

Pathwayⁱ: fatty acid beta-oxidation

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

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Keywords - Coding sequence diversityⁱ

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Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ