EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase [Homo sapiens (human)] - Gene

Summary

Official Symbol: EHHADHprovided by HGNC
Official Full Name: enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenaseprovided by HGNC
Primary source: HGNC:HGNC:3247
See related: Ensembl:ENSG00000113790 MIM:607037; AllianceGenome:HGNC:3247
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LBP; ECHD; LBFP; MFE1; PBFE; FRTS3; L-PBE
Summary: 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-hydroxyacyl-CoA dehydrogenase activity. Defects in this gene are a cause of peroxisomal disorders such as Zellweger syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Expression: Biased expression in liver (RPKM 75.1), kidney (RPKM 65.6) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q27.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (185190624..185254049, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (188006637..188069581, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (184908412..184971837, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

[EHHADH is a key gene in fatty acid metabolism pathways in hepatocellular carcinoma: a transcriptomic analysis].
Title: [EHHADH is a key gene in fatty acid metabolism pathways in hepatocellular carcinoma: a transcriptomic analysis].
EHHADH contributes to cisplatin resistance through regulation by tumor-suppressive microRNAs in bladder cancer.
Title: EHHADH contributes to cisplatin resistance through regulation by tumor-suppressive microRNAs in bladder cancer.
Mistargeting of peroxisomal EHHADH disrupts mitochondrial metabolism and leads to renal Fanconi's syndrome; this indicates a central role of mitochondria in proximal tubular function.
Title: Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Fanconi renotubular syndrome 3 MedGen: C3810100 OMIM: 615605 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of major depressive disorder: new results, meta-analysis, and lessons learned. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-77625 (e-PCR)
- UniSTS:58473

STS-L07077 (e-PCR)
- UniSTS:65449

D3S4215 (e-PCR)
- UniSTS:25013

SHGC-81682 (e-PCR)
- UniSTS:103876

D3S3916 (e-PCR)
- UniSTS:27132

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3-hydroxyacyl-CoA dehydratase activity	TAS Traceable Author Statement more info
enables 3-hydroxyacyl-CoA dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 3-hydroxyacyl-CoA dehydrogenase activity	IDA Inferred from Direct Assay more info	PubMed
enables 3-hydroxyacyl-CoA dehydrogenase activity	ISS Inferred from Sequence or Structural Similarity more info
enables 3-hydroxyacyl-CoA dehydrogenase activity	NAS Non-traceable Author Statement more info	PubMed
enables 3-hydroxyacyl-CoA dehydrogenase activity	TAS Traceable Author Statement more info
enables NAD+ binding	IEA Inferred from Electronic Annotation more info
enables delta(3)-delta(2)-enoyl-CoA isomerase activity	ISS Inferred from Sequence or Structural Similarity more info
enables enoyl-CoA hydratase activity	IDA Inferred from Direct Assay more info	PubMed
enables enoyl-CoA hydratase activity	ISS Inferred from Sequence or Structural Similarity more info
enables enoyl-CoA hydratase activity	NAS Non-traceable Author Statement more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables intramolecular oxidoreductase activity, transposing C=C bonds	ISS Inferred from Sequence or Structural Similarity more info
enables long-chain-3-hydroxyacyl-CoA dehydrogenase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in fatty acid beta-oxidation	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid beta-oxidation	IDA Inferred from Direct Assay more info	PubMed
involved_in fatty acid beta-oxidation	ISS Inferred from Sequence or Structural Similarity more info
involved_in fatty acid beta-oxidation	NAS Non-traceable Author Statement more info	PubMed
involved_in fatty acid beta-oxidation using acyl-CoA oxidase	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in peroxisomal matrix	TAS Traceable Author Statement more info
is_active_in peroxisome	IBA Inferred from Biological aspect of Ancestor more info
located_in peroxisome	IDA Inferred from Direct Assay more info	PubMed
located_in peroxisome	ISS Inferred from Sequence or Structural Similarity more info
located_in peroxisome	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: peroxisomal bifunctional enzyme

Names: 3,2-trans-enoyl-CoA isomerase; L-3-hydroxyacyl-CoA dehydrogenase; L-bifunctional protein, peroxisomal; PBE; enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase; enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase; multifunctional enzyme 1; peroxisomal enoyl-CoA hydratase

NP_001159887.1

EC 1.1.1.35

EC 4.2.1.17

EC 5.3.3.8

NP_001957.2

EC 1.1.1.35

EC 4.2.1.17

EC 5.3.3.8

XP_047303596.1

EC 1.1.1.35

EC 4.2.1.17

EC 5.3.3.8

XP_047303597.1

EC 1.1.1.35

EC 4.2.1.17

EC 5.3.3.8

XP_054201541.1

EC 1.1.1.35

EC 4.2.1.17

EC 5.3.3.8

XP_054201542.1

EC 1.1.1.35

EC 4.2.1.17

EC 5.3.3.8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_015999.1 RefSeqGene

Range

5050..68475

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001166415.2 → NP_001159887.1 peroxisomal bifunctional enzyme isoform 2

See identical proteins and their annotated locations for NP_001159887.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AK301521, BC038948, DC418722

Consensus CDS

CCDS54694.1

UniProtKB/Swiss-Prot

Q08426

Related

ENSP00000387746.1, ENST00000456310.5

Conserved Domains (4) summary

cd06558
Location:1 → 92

crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

COG1250
Location:199 → 493

FadB; 3-hydroxyacyl-CoA dehydrogenase [Lipid transport and metabolism]

pfam00725
Location:382 → 486

3HCDH; 3-hydroxyacyl-CoA dehydrogenase, C-terminal domain

pfam02737
Location:203 → 380

3HCDH_N; 3-hydroxyacyl-CoA dehydrogenase, NAD binding domain
NM_001966.4 → NP_001957.2 peroxisomal bifunctional enzyme isoform 1

See identical proteins and their annotated locations for NP_001957.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

BC038948, DC418722

Consensus CDS

CCDS33901.1

UniProtKB/Swiss-Prot

A8K6Y3, B4DWG3, D3DNU0, Q08426, Q58EZ5

Related

ENSP00000231887.3, ENST00000231887.8

Conserved Domains (1) summary

cl28491
Location:20 → 705

fadJ; multifunctional fatty acid oxidation complex subunit alpha; Reviewed