Format

Send to:

Choose Destination

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

Gene ID: 3032, updated on 10-Nov-2018

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; Vega:OTTHUMG00000096978
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; 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

Genomic context

See HADHB in Genome Data Viewer
Location:
2p23.3
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (26244748..26290465)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (26467616..26513333)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene peptidylprolyl isomerase like 1 pseudogene 1 Neighboring gene GRB2 associated regulator of MAPK1 subtype 2 Neighboring gene hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha Neighboring gene uncharacterized LOC105374334 Neighboring gene adhesion G protein-coupled receptor F3 Neighboring gene selenoprotein I

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC87480

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
acetyl-CoA C-acyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enoyl-CoA hydratase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
long-chain-3-hydroxyacyl-CoA dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
long-chain-3-hydroxyacyl-CoA dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
long-chain-enoyl-CoA hydratase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
fatty acid beta-oxidation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fatty acid beta-oxidation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial envelope TAS
Traceable Author Statement
more info
PubMed 
mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial nucleoid IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
mitochondrion NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

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
NP_001268441.1
NP_001268442.1
XP_011531105.1
XP_024308598.1
XP_024308599.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_007294.1 RefSeqGene

    Range
    4796..50513
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000183.2NP_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, DB477128
    Consensus CDS
    CCDS1722.1
    UniProtKB/Swiss-Prot
    P55084
    Related
    ENSP00000325136.5, OTTHUMP00000122456, ENST00000317799.9, OTTHUMT00000214050
    Conserved Domains (1) summary
    cd00751
    Location:55471
    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 ...
  2. NM_001281512.1NP_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, DB477128
    Consensus CDS
    CCDS62871.1
    UniProtKB/Swiss-Prot
    P55084
    UniProtKB/TrEMBL
    F5GZQ3
    Related
    ENSP00000444295.1, ENST00000537713.5
    Conserved Domains (2) summary
    cd00751
    Location:55456
    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:56455
    AcCoA-C-Actrans; acetyl-CoA acetyltransferases
  3. NM_001281513.1NP_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, DB477128
    Consensus CDS
    CCDS62872.1
    UniProtKB/Swiss-Prot
    P55084
    Conserved Domains (1) summary
    cd00751
    Location:33449
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    26244748..26290465
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452830.1XP_024308598.1  trifunctional enzyme subunit beta, mitochondrial isoform X2

    Conserved Domains (1) summary
    cd00751
    Location:45461
    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 ...
  2. XM_024452831.1XP_024308599.1  trifunctional enzyme subunit beta, mitochondrial isoform X3

    Related
    ENSP00000442665.1, ENST00000545822.2
    Conserved Domains (1) summary
    cd00751
    Location:33449
    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 ...
  3. XM_011532803.1XP_011531105.1  trifunctional enzyme subunit beta, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011531105.1

    UniProtKB/Swiss-Prot
    P55084
    Conserved Domains (1) summary
    cd00751
    Location:55471
    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 ...
Support Center