HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: HADHBprovided by HGNC
Official Full Name: hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit betaprovided by HGNC
Primary source: HGNC:HGNC:4803
See related: Ensembl:ENSG00000138029 MIM:143450; AllianceGenome:HGNC:4803
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: ECHB; MTPB; MTPD; MTPD2; MSTP029; TP-BETA
Summary: This gene encodes the beta subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the beta subunit catalyzing the 3-ketoacyl-CoA thiolase activity. The encoded protein can also bind RNA and decreases the stability of some mRNAs. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. Mutations in this gene result in trifunctional protein deficiency. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]
Expression: Ubiquitous expression in heart (RPKM 140.9), duodenum (RPKM 87.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p23.3

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (26244939..26290465)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (26280280..26325829)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (26467807..26513333)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HADHB, a fatty acid beta-oxidation enzyme, is a potential prognostic predictor in malignant lymphoma.
Title: HADHB, a fatty acid beta-oxidation enzyme, is a potential prognostic predictor in malignant lymphoma.
MTP deficiency caused by HADHB mutations: Pathophysiology and clinical manifestations.
Title: MTP deficiency caused by HADHB mutations: Pathophysiology and clinical manifestations.
Targeting viperin to the mitochondrion inhibits the thiolase activity of the trifunctional enzyme complex.
Title: Targeting viperin to the mitochondrion inhibits the thiolase activity of the trifunctional enzyme complex.
The current study broadens the genetic spectrum of HADHB and highlights the importance of screening fatty acid oxidation deficiency-related gene mutations among patients with intermittent rhabdomyolysis, as in the patient reported here, although extremely rare.
Title: Identification and functional characterization of mutations within HADHB associated with mitochondrial trifunctional protein deficiency.
Results find that hypermethylation of HADHB gene was persistently correlated with downregulation of its transcription in colorectal cancer (CRC). Tumor functional analysis indicated that HADHB reduced CRC migration and invasiveness.
Title: Integrated analyses of multi-omics reveal global patterns of methylation and hydroxymethylation and screen the tumor suppressive roles of HADHB in colorectal cancer.
Gene analysis identified two compound heterozygous mutations (c.184A>G/c.340A>G and c.488G>A/c.1175C>T, respectively) in the HADHB gene
Title: HADHB mutations cause infantile-onset axonal Charcot-Marie-Tooth disease: A report of two cases.
Exposure to bezafibrate (400 muM for 48 h) increased the abundance of HADHA and HADHB mRNAs.
Title: Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.
nonstructural protein 5 (NS5) interacted with hydroxyacyl-CoA dehydrogenase alpha and beta subunits, two components of the mitochondrial trifunctional protein (MTP) involved in LCFA beta-oxidation
Title: Japanese encephalitis virus nonstructural protein NS5 interacts with mitochondrial trifunctional protein and impairs fatty acid β-oxidation.
Mutations in HADHB, which encodes the beta-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.
Title: Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.
Heterozygous mutation in HADHB gene cause early-onset axonal axonal Charcot-Marie-tooth disease.
Title: A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease.

Submit: New GeneRIF Correction See all GeneRIFs (20)

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
Mitochondrial trifunctional protein deficiency 2 MedGen: C5830374 OMIM: 620300 GeneReviews: Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpu	vpu	HIV-1 Vpu is identified to have a physical interaction with hydroxyacyl-CoA dehydrogenase beta subunit (HADHB) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH12545 (e-PCR)
- UniSTS:20481

DXS6970E (e-PCR)
- UniSTS:11786

G20487 (e-PCR)
- UniSTS:77135

A005T34 (e-PCR)
- UniSTS:77136

D2S209E (e-PCR)
- UniSTS:147794

D2S1556E (e-PCR)
- UniSTS:150641

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3-hydroxyacyl-CoA dehydrogenase activity	TAS Traceable Author Statement more info	PubMed
enables RNA binding	HDA more info	PubMed
enables acetyl-CoA C-acetyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables acetyl-CoA C-acyltransferase activity	TAS Traceable Author Statement more info	PubMed
enables acetyl-CoA C-myristoyltransferase activity	IEA Inferred from Electronic Annotation more info
enables enoyl-CoA hydratase activity	TAS Traceable Author Statement more info	PubMed
enables lncRNA binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation more info
involved_in gene expression	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial envelope	TAS Traceable Author Statement more info	PubMed
part_of mitochondrial fatty acid beta-oxidation multienzyme complex	IBA Inferred from Biological aspect of Ancestor more info
part_of mitochondrial fatty acid beta-oxidation multienzyme complex	IPI Inferred from Physical Interaction more info	PubMed
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrial nucleoid	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial outer membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in mitochondrion	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: trifunctional enzyme subunit beta, mitochondrial

Names: 2-enoyl-Coenzyme A (CoA) hydratase, beta subunit; 3-ketoacyl-Coenzyme A (CoA) thiolase of mitochondrial trifunctional protein, beta subunit; acetyl-CoA acyltransferase; beta-ketothiolase; hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit; hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit

NP_000174.1

EC 2.3.1.155

EC 2.3.1.16

NP_001268441.1

EC 2.3.1.155

EC 2.3.1.16

NP_001268442.1

EC 2.3.1.155

EC 2.3.1.16

XP_011531105.1

EC 2.3.1.155

EC 2.3.1.16

XP_054197587.1

EC 2.3.1.155

EC 2.3.1.16

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_007294.1 RefSeqGene

Range

4987..50513

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000183.3 → NP_000174.1 trifunctional enzyme subunit beta, mitochondrial isoform 1 precursor

See identical proteins and their annotated locations for NP_000174.1

Status: REVIEWED

Description

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

Source sequence(s)

BC066963, D16481, DA835045

Consensus CDS

CCDS1722.1

UniProtKB/Swiss-Prot

B2RB16, B4E2W0, O14969, P55084, Q53TA6, Q96C77, Q9H3F5, Q9T2V8

UniProtKB/TrEMBL

B4DDC9

Related

ENSP00000325136.5, ENST00000317799.10

Conserved Domains (1) summary

cd00751
Location:55 → 471

thiolase; Thiolase are ubiquitous enzymes that catalyze the reversible thiolytic cleavage of 3-ketoacyl-CoA into acyl-CoA and acetyl-CoA, a 2-step reaction involving a covalent intermediate formed with a catalytic cysteine. They are found in prokaryotes and ...
NM_001281512.2 → NP_001268441.1 trifunctional enzyme subunit beta, mitochondrial isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame coding exon compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.

Source sequence(s)

D16481, DA067388

Consensus CDS

CCDS62871.1

UniProtKB/TrEMBL

B4DDC9, F5GZQ3

Related

ENSP00000444295.1, ENST00000537713.5

Conserved Domains (2) summary

cd00751
Location:55 → 456

thiolase; Thiolase are ubiquitous enzymes that catalyze the reversible thiolytic cleavage of 3-ketoacyl-CoA into acyl-CoA and acetyl-CoA, a 2-step reaction involving a covalent intermediate formed with a catalytic cysteine. They are found in prokaryotes and ...

TIGR01930
Location:56 → 455

AcCoA-C-Actrans; acetyl-CoA acetyltransferases
NM_001281513.2 → NP_001268442.1 trifunctional enzyme subunit beta, mitochondrial isoform 3

See identical proteins and their annotated locations for NP_001268442.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) includes an alternate exon in the 5' coding region and uses a downstream start codon compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct N-terminus compared to isoform 1.

Source sequence(s)

AK304455, D16481, DA835045

Consensus CDS

CCDS62872.1

UniProtKB/TrEMBL

B4DY96

Related

ENSP00000442665.1, ENST00000545822.2

Conserved Domains (1) summary

cd00751
Location:33 → 449

thiolase; Thiolase are ubiquitous enzymes that catalyze the reversible thiolytic cleavage of 3-ketoacyl-CoA into acyl-CoA and acetyl-CoA, a 2-step reaction involving a covalent intermediate formed with a catalytic cysteine. They are found in prokaryotes and ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

26244939..26290465

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011532803.2 → XP_011531105.1 trifunctional enzyme subunit beta, mitochondrial isoform X1

See identical proteins and their annotated locations for XP_011531105.1

UniProtKB/Swiss-Prot

B2RB16, B4E2W0, O14969, P55084, Q53TA6, Q96C77, Q9H3F5, Q9T2V8

UniProtKB/TrEMBL

B4DDC9

Conserved Domains (1) summary

cd00751
Location:55 → 471

thiolase; Thiolase are ubiquitous enzymes that catalyze the reversible thiolytic cleavage of 3-ketoacyl-CoA into acyl-CoA and acetyl-CoA, a 2-step reaction involving a covalent intermediate formed with a catalytic cysteine. They are found in prokaryotes and ...