Format

Send to:

Choose Destination

HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha [ Homo sapiens (human) ]

Gene ID: 3030, updated on 10-Nov-2018

Summary

Official Symbol
HADHAprovided by HGNC
Official Full Name
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alphaprovided by HGNC
Primary source
HGNC:HGNC:4801
See related
Ensembl:ENSG00000084754 MIM:600890; Vega:OTTHUMG00000096979
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
GBP; ECHA; HADH; LCEH; MTPA; LCHAD; TP-ALPHA
Summary
This gene encodes the alpha 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 alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. 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. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in duodenum (RPKM 119.6), small intestine (RPKM 107.2) and 25 other tissues See more
Orthologs

Genomic context

See HADHA in Genome Data Viewer
Location:
2p23.3
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (26190635..26244726, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (26413504..26467665, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 6 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 beta Neighboring gene uncharacterized LOC105374334 Neighboring gene adhesion G protein-coupled receptor F3

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
Vif vif HIV-1 Vif interacts with HADHA PubMed
Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of trifunctional protein, alpha subunit (HADHA) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed
Vpu vpu HIV-1 Vpu is identified to have a physical interaction with hydroxyacyl-CoA dehydrogenase alpha subunit (HADHA) 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

  • MGC1728

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3-hydroxyacyl-CoA dehydrogenase activity TAS
Traceable Author Statement
more info
PubMed 
NAD binding IEA
Inferred from Electronic Annotation
more info
 
acetyl-CoA C-acetyltransferase activity TAS
Traceable Author Statement
more info
PubMed 
enoyl-CoA hydratase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fatty-acyl-CoA binding IEA
Inferred from Electronic Annotation
more info
 
long-chain-3-hydroxyacyl-CoA dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
long-chain-enoyl-CoA hydratase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
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
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to insulin IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial fatty acid beta-oxidation multienzyme complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial nucleoid IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion HDA PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
trifunctional enzyme subunit alpha, mitochondrial
Names
3-ketoacyl-Coenzyme A (CoA) thiolase, alpha subunit
3-oxoacyl-CoA thiolase
78 kDa gastrin-binding protein
gastrin-binding protein
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit
long-chain 2-enoyl-CoA hydratase
long-chain-3-hydroxyacyl-CoA dehydrogenase
mitochondrial long-chain 2-enoyl-Coenzyme A (CoA) hydratase, alpha subunit
mitochondrial long-chain L-3-hydroxyacyl-Coenzyme A (CoA) dehydrogenase, alpha subunit
mitochondrial trifunctional enzyme, alpha subunit
mitochondrial trifunctional protein, alpha subunit
NP_000173.2

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_007121.1 RefSeqGene

    Range
    4896..58986
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000182.4NP_000173.2  trifunctional enzyme subunit alpha, mitochondrial precursor

    See identical proteins and their annotated locations for NP_000173.2

    Status: REVIEWED

    Source sequence(s)
    AC011742, AI972144, BC009235, CN264228
    Consensus CDS
    CCDS1721.1
    UniProtKB/Swiss-Prot
    P40939
    UniProtKB/TrEMBL
    E9KL44
    Related
    ENSP00000370023.3, OTTHUMP00000122457, ENST00000380649.7, OTTHUMT00000214051
    Conserved Domains (1) summary
    TIGR02441
    Location:27762
    fa_ox_alpha_mit; fatty acid oxidation complex, alpha subunit, mitochondrial

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
    26190635..26244726 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center