Peroxisomal bifunctional enzyme - Homo sapiens (Human)

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Reviewed, UniProtKB/Swiss-Prot Q08426 (ECHP_HUMAN)

Last modified June 16, 2009. Version 98. History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

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Names and origin

Protein names

Recommended name:
    Peroxisomal bifunctional enzyme
      Short name=PBE
      Short name=PBFE
Including the following 2 domains:
    1- Recommended name:
            Enoyl-CoA hydratase/3,2-trans-enoyl-CoA isomerase
              EC=4.2.1.17
              EC=5.3.3.8
    2- Recommended name:
            3-hydroxyacyl-CoA dehydrogenase
              EC=1.1.1.35

Gene names

Name:	EHHADH
Synonyms:	ECHD

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	723 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

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General annotation (Comments)

Catalytic activity	(3S)-3-hydroxyacyl-CoA = trans-2(or 3)-enoyl-CoA + H₂O. (3Z)-dodec-3-enoyl-CoA = (2E)-dodec-2-enoyl-CoA. (S)-3-hydroxyacyl-CoA + NAD⁺ = 3-oxoacyl-CoA + NADH.
Pathway	Lipid metabolism; fatty acid beta-oxidation.
Subunit structure	Monomer.
Subcellular location	Peroxisome.
Tissue specificity	Liver and kidney. Lower amounts seen in the brain.
Involvement in disease	Absent in patients suffering with peroxisomal disorders such as Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease.
Sequence similarities	In the N-terminal section; belongs to the enoyl-CoA hydratase/isomerase family. In the C-terminal section; belongs to the 3-hydroxyacyl-CoA dehydrogenase family.

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Ontologies

Keywords
Biological process	Fatty acid metabolism Lipid metabolism
Cellular component	Peroxisome
Coding sequence diversity	Polymorphism
Ligand	NAD
Molecular function	Isomerase Lyase Oxidoreductase
PTM	Phosphoprotein
Technical term	Multifunctional enzyme
Gene Ontology (GO)
Biological process	oxidation reduction Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	peroxisome Ref.1 Traceable author statement. Source: ProtInc
Molecular function	3-hydroxyacyl-CoA dehydrogenase activity Ref.1 Traceable author statement. Source: ProtInc coenzyme binding Inferred from electronic annotation. Source: InterPro dodecenoyl-CoA delta-isomerase activity Inferred from electronic annotation. Source: EC enoyl-CoA hydratase activity Ref.1 Traceable author statement. Source: ProtInc
Complete GO annotation...

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Initiator methionine

Removed By similarity

Chain

2 – 723

722

Peroxisomal bifunctional enzyme

PRO_0000109247

Regions

Region

2 – 282

281

Enoyl-CoA hydratase / isomerase

Region

283 – 572

290

3-hydroxyacyl-CoA dehydrogenase

Motif

721 – 723

Microbody targeting signal

Sites

Binding site

101

Substrate; via amide nitrogen By similarity

Site

124

Important for catalytic activity By similarity

Amino acid modifications

Modified residue

359

Phosphoserine Ref.7

Natural variations

Natural variant

V → G: dbSNP rs1062551. Ref.1

VAR_054329

Natural variant

I → R: dbSNP rs1062552. Ref.1

VAR_054330

Natural variant

T → I: dbSNP rs1062553. Ref.1

VAR_047132

Natural variant

274

A → T: dbSNP rs2302819.

VAR_047133

Natural variant

325

A → G: dbSNP rs1062555. Ref.1

VAR_054331

Natural variant

598

K → T: dbSNP rs1042437. Ref.1 Ref.6

VAR_054332

Natural variant

606

T → P: dbSNP rs1042438. Ref.1 Ref.6

VAR_047134

Natural variant

685

Q → K: dbSNP rs11919970.

VAR_047135

Natural variant

715

L → S: dbSNP rs11927618.

VAR_047136

Experimental info

Sequence conflict

117

E → D in AAA53289. Ref.1

Sequence conflict

656 – 657

WP → CA in AAA53289. Ref.1

Sequence conflict

656 – 657

WP → CA in AAB19482. Ref.6

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Sequences

Sequence

Length

Mass (Da)

Tools

Q08426-1 [UniParc].

Last modified February 10, 2009. Version 3.
Checksum: FC3B44B030A7BCBD
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FASTA

723

79,495

        10         20         30         40         50         60 
MAEYTRLHNA LALIRLRNPP VNAISTTLLR DIKEGLQKAV IDHTIKAIVI CGAEGKFSAG 

        70         80         90        100        110        120 
ADIRGFSAPR TFGLTLGHVV DEIQRNEKPV VAAIQGMAFG GGLELALGCH YRIAHAEAQV 

       130        140        150        160        170        180 
GLPEVTLGLL PGARGTQLLP RLTGVPAALD LITSGRRILA DEALKLGILD KVVNSDPVEE 

       190        200        210        220        230        240 
AIRFAQRVSD QPLESRRLCN KPIQSLPNMD SIFSEALLKM RRQHPGCLAQ EACVRAVQAA 

       250        260        270        280        290        300 
VQYPYEVGIK KEEELFLYLL QSGQARALQY AFFAERKANK WSTPSGASWK TASARPVSSV 

       310        320        330        340        350        360 
GVVGLGTMGR GIVISFARAR IPVIAVDSDK NQLATANKMI TSVLEKEASK MQQSGHPWSG 

       370        380        390        400        410        420 
PKPRLTSSVK ELGGVDLVIE AVFEEMSLKK QVFAELSAVC KPEAFLCTNT SALDVDEIAS 

       430        440        450        460        470        480 
STDRPHLVIG THFFSPAHVM KLLEVIPSQY SSPTTIATVM NLSKKIKKIG VVVGNCFGFV 

       490        500        510        520        530        540 
GNRMLNPYYN QAYFLLEEGS KPEEVDQVLE EFGFKMGPFR VSDLAGLDVG WKSRKGQGLT 

       550        560        570        580        590        600 
GPTLLPGTPA RKRGNRRYCP IPDVLCELGR FGQKTGKGWY QYDKPLGRIH KPDPWLSKFL 

       610        620        630        640        650        660 
SRYRKTHHIE PRTISQDEIL ERCLYSLINE AFRILGEGIA ASPEHIDVVY LHGYGWPRHK 

       670        680        690        700        710        720 
GGPMFYASTV GLPTVLEKLQ KYYRQNPDIP QLEPSDYLKK LASQGNPPLK EWQSLAGSPS 


SKL

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References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"cDNA cloning of the human peroxisomal enoyl-CoA hydratase: 3-hydroxyacyl-CoA dehydrogenase bifunctional enzyme and localization to chromosome 3q26.3-3q28: a free left Alu Arm is inserted in the 3' noncoding region." Hoefler G., Forstner M., McGuinness M.C., Hulla W., Hiden M., Krisper P., Kenner L., Ried T., Lengauer C., Zechner R., Moser H.W., Chen G.L. Genomics 19:60-67(1994) [PubMed: 8188243] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS GLY-40; ARG-41; ILE-75; GLY-325; THR-598 AND PRO-606. Tissue: Liver.
[2]	"Structural organization of gene for human peroxisomal enoyl-CoA hydratase/L-3-hydroxyacyl-CoA dehydrogenase: L-bifunctional enzyme (L-PBE)." Cherkaoui-Malki M., Surapureddi S., Yeldandi A.V., Rao S.M., Zhu Y., Reddy J.K. Submitted (SEP-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]	Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Kidney.
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Uterus.
[6]	"Import of human bifunctional enzyme into peroxisomes of human hepatoma cells in vitro." Chen G.L., Balfe A., Erwa W., Hoefler G., Gaertner J., Aikawa J., Chen W.W. Biochem. Biophys. Res. Commun. 178:1084-1091(1991) [PubMed: 1651711] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 502-723, VARIANTS THR-598 AND PRO-606. Tissue: Liver.
[7]	"Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry." Molina H., Horn D.M., Tang N., Mathivanan S., Pandey A. Proc. Natl. Acad. Sci. U.S.A. 104:2199-2204(2007) [PubMed: 17287340] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-359, MASS SPECTROMETRY.
[8]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
+	Additional computationally mapped references.

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Cross-references

Sequence databases
	L07077 mRNA. Translation: AAA53289.1. AJ427345 AJ427351 Genomic DNA. Translation: CAD22483.1. AK223460 mRNA. Translation: BAD97180.1. CH471052 Genomic DNA. Translation: EAW78229.1. BC038948 mRNA. Translation: AAH38948.1. BC110460 mRNA. Translation: AAI10461.1. S50245 mRNA. Translation: AAB19482.1.
IPI	IPI00216164.
PIR	A49613.
RefSeq	NP_001957.2.
UniGene	Hs.429879
3D structure databases
HSSP	HSSP built from PDB template 1MJ3 based on UniProtKB P14604.
SMR	Q08426. Positions 262-717.
ModBase	Search...
PTM databases
PhosphoSite	Q08426.
Proteomic databases
PRIDE	Q08426.
Genome annotation databases
Ensembl	ENSG00000113790. Homo sapiens. [Contig view]
GeneID	1962.
NMPDR	fig\|9606.3.peg.23617.
Organism-specific databases
GeneCards	GC03M186391.
HGNC	HGNC:3247. EHHADH.
MIM	607037. gene.
Orphanet	50812. Zellweger-like syndrome, without peroxisomal anomalies.
PharmGKB	PA27682.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q08426.
HOVERGEN	Q08426.
OMA	Q08426. QRNEKPV.
Enzyme and pathway databases
BRENDA	1.1.1.35. 247. 4.2.1.17. 247. 5.3.3.8. 247.
Gene expression databases
ArrayExpress	Q08426.
Bgee	Q08426.
CleanEx	HS_EHHADH.
GermOnline	ENSG00000113790. Homo sapiens.
Family and domain databases
InterPro	IPR006180. 3-OHacyl-CoA_DH_CS. IPR006176. 3-OHacyl-CoA_DH_NAD-bd. IPR006108. 3HC_DH_C. IPR001753. Crotonase_core. IPR013328. DH_multihelical. IPR018376. Enoyl-CoA_hyd/isom_CS. IPR016040. NAD(P)-bd_dom. [Graphical view]
Gene3D	G3DSA:3.40.50.720. NAD(P)-bd. 1 hit. G3DSA:1.10.1040.10. Opine_DH. 2 hits.
Pfam	PF00725. 3HCDH. 2 hits. PF02737. 3HCDH_N. 1 hit. PF00378. ECH. 1 hit. [Graphical view]
PROSITE	PS00067. 3HCDH. 1 hit. PS00166. ENOYL_COA_HYDRATASE. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
DrugBank	DB00157. NADH.
SOURCE	Search...

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Entry information

Entry name

ECHP_HUMAN

Accession

Primary (citable) accession number: Q08426
Secondary accession number(s): Q58EZ5

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1994
Last sequence update:	February 10, 2009
Last modified:	June 16, 2009
This is version 98 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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Relevant documents

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

SIMILARITY comments

Index of protein domains and families

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Sequence annotation (Features)

Molecule processing

Regions

Sites

Amino acid modifications

Natural variations

Experimental info

Sequences

References

Cross-references

Sequence databases

3D structure databases

PTM databases

Proteomic databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Gene expression databases

Family and domain databases

Other Resources

Entry information

Relevant documents