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

Gene ID: 3030, updated on 27-Nov-2024

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; AllianceGenome:HGNC:4801
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
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Genomic context

See HADHA in Genome Data Viewer
Location:
2p23.3
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (26190635..26244632, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (26225960..26279973, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (26413504..26467500, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene SMARCE1 pseudogene 6 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:26387200-26387378 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:26387836-26388007 Neighboring gene peptidylprolyl isomerase like 1 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26398419-26398957 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26401279-26402194 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26402195-26403110 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11270 Neighboring gene GRB2 associated regulator of MAPK1 subtype 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:26465316-26465856 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:26467342-26468022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26468835-26469562 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What'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 PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC1728

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 3-hydroxyacyl-CoA dehydratase activity IEA
Inferred from Electronic Annotation
more info
 
enables 3-hydroxyacyl-CoA dehydrogenase activity TAS
Traceable Author Statement
more info
PubMed 
enables NAD+ binding IEA
Inferred from Electronic Annotation
more info
 
enables acetyl-CoA C-acetyltransferase activity TAS
Traceable Author Statement
more info
PubMed 
enables enoyl-CoA hydratase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables fatty-acyl-CoA binding IEA
Inferred from Electronic Annotation
more info
 
enables long-chain-3-hydroxyacyl-CoA dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in cardiolipin acyl-chain remodeling IDA
Inferred from Direct Assay
more info
PubMed 
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 response to insulin IEA
Inferred from Electronic Annotation
more info
 
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
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
monolysocardiolipin acyltransferase
NP_000173.2

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

  1. NG_007121.2 RefSeqGene

    Range
    4990..58987
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_747

mRNA and Protein(s)

  1. NM_000182.5NP_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
    B2R7L4, B4DYP2, P40939, Q16679, Q53T69, Q53TA2, Q96GT7, Q9UQC5
    UniProtKB/TrEMBL
    E9KL44, H0YFD6
    Related
    ENSP00000370023.3, ENST00000380649.8
    Conserved Domains (1) summary
    TIGR02441
    Location:27762
    fa_ox_alpha_mit; fatty acid oxidation complex, alpha subunit, mitochondrial

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

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    26190635..26244632 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    26225960..26279973 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)