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HADHA (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha)

Identity

Alias (NCBI)ECHA
GBP
HADH
LCEH
LCHAD
MTPA
TP-ALPHA
HGNC (Hugo) HADHA
HGNC Alias symbGBP
LCEH
LCHAD
MTPA
HGNC Alias namegastrin-binding protein
 long-chain-3-hydroxyacyl-CoA dehydrogenase
 long-chain 2-enoyl-CoA hydratase
 mitochondrial trifunctional protein, alpha subunit
HGNC Previous namehydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit
 hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
LocusID (NCBI) 3030
Atlas_Id 52828
Location 2p23.3  [Link to chromosome band 2p23]
Location_base_pair Starts at 26190635 and ends at 26244632 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
GAS5 (1q25.1) / HADHA (2p23.3)HADHA (2p23.3) / CHID1 (11p15.5)HADHA (2p23.3) / DNAJC27 (2p23.3)
HADHA (2p23.3) / HADHA (2p23.3)HADHA (2p23.3) / ZNF385B (2q31.2)NID1 (1q42.3) / HADHA (2p23.3)
HADHA 2p23.3 / DNAJC27 2p23.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)HADHA   4801
LRG (Locus Reference Genomic)LRG_747
Cards
Entrez_Gene (NCBI)HADHA    hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
AliasesECHA; GBP; HADH; LCEH; 
LCHAD; MTPA; TP-ALPHA
GeneCards (Weizmann)HADHA
Ensembl hg19 (Hinxton)ENSG00000084754 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000084754 [Gene_View]  ENSG00000084754 [Sequence]  chr2:26190635-26244632 [Contig_View]  HADHA [Vega]
ICGC DataPortalENSG00000084754
TCGA cBioPortalHADHA
AceView (NCBI)HADHA
Genatlas (Paris)HADHA
SOURCE (Princeton)HADHA
Genetics Home Reference (NIH)HADHA
Genomic and cartography
GoldenPath hg38 (UCSC)HADHA  -     chr2:26190635-26244632 -  2p23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HADHA  -     2p23.3   [Description]    (hg19-Feb_2009)
GoldenPathHADHA - 2p23.3 [CytoView hg19]  HADHA - 2p23.3 [CytoView hg38]
ImmunoBaseENSG00000084754
Genome Data Viewer NCBIHADHA [Mapview hg19]  
OMIM600890   609015   609016   
Gene and transcription
Genbank (Entrez)AI972144 AK293398 AK299258 AK302532 AK313027
RefSeq transcript (Entrez)NM_000182
Consensus coding sequences : CCDS (NCBI)HADHA
Gene ExpressionHADHA [ NCBI-GEO ]   HADHA [ EBI - ARRAY_EXPRESS ]   HADHA [ SEEK ]   HADHA [ MEM ]
Gene Expression Viewer (FireBrowse)HADHA [ Firebrowse - Broad ]
GenevisibleExpression of HADHA in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3030
GTEX Portal (Tissue expression)HADHA
Human Protein AtlasENSG00000084754-HADHA [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP40939   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP40939  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP40939
PhosPhoSitePlusP40939
Domaine pattern : Prosite (Expaxy)3HCDH (PS00067)    ENOYL_COA_HYDRATASE (PS00166)   
Domains : Interpro (EBI)3-OHacyl-CoA_DH_CS    3-OHacyl-CoA_DH_NAD-bd    3HC_DH_C    6-PGluconate_DH-like_C_sf    ClpP/crotonase-like_dom_sf    Enoyl-CoA_hyd/isom_CS    Enoyl-CoA_hydra/iso    Fa_ox_alpha_mit    NAD(P)-bd_dom_sf   
Domain families : Pfam (Sanger)3HCDH (PF00725)    3HCDH_N (PF02737)    ECH_1 (PF00378)   
Domain families : Pfam (NCBI)pfam00725    pfam02737    pfam00378   
Conserved Domain (NCBI)HADHA
PDB (RSDB)5ZQZ    5ZRV    6DV2   
PDB Europe5ZQZ    5ZRV    6DV2   
PDB (PDBSum)5ZQZ    5ZRV    6DV2   
PDB (IMB)5ZQZ    5ZRV    6DV2   
Structural Biology KnowledgeBase5ZQZ    5ZRV    6DV2   
SCOP (Structural Classification of Proteins)5ZQZ    5ZRV    6DV2   
CATH (Classification of proteins structures)5ZQZ    5ZRV    6DV2   
SuperfamilyP40939
AlphaFold pdb e-kbP40939   
Human Protein Atlas [tissue]ENSG00000084754-HADHA [tissue]
HPRD02934
Protein Interaction databases
DIP (DOE-UCLA)P40939
IntAct (EBI)P40939
BioGRIDHADHA
STRING (EMBL)HADHA
ZODIACHADHA
Ontologies - Pathways
QuickGOP40939
Ontology : AmiGOfatty-acyl-CoA binding  3-hydroxyacyl-CoA dehydrogenase activity  acetyl-CoA C-acetyltransferase activity  enoyl-CoA hydratase activity  protein binding  mitochondrion  mitochondrion  mitochondrial inner membrane  fatty acid beta-oxidation  fatty acid beta-oxidation  fatty acid beta-oxidation  mitochondrial fatty acid beta-oxidation multienzyme complex  long-chain-enoyl-CoA hydratase activity  long-chain-3-hydroxyacyl-CoA dehydrogenase activity  response to insulin  cardiolipin acyl-chain remodeling  cardiolipin acyl-chain remodeling  response to drug  mitochondrial nucleoid  protein-containing complex binding  NAD+ binding  
Ontology : EGO-EBIfatty-acyl-CoA binding  3-hydroxyacyl-CoA dehydrogenase activity  acetyl-CoA C-acetyltransferase activity  enoyl-CoA hydratase activity  protein binding  mitochondrion  mitochondrion  mitochondrial inner membrane  fatty acid beta-oxidation  fatty acid beta-oxidation  fatty acid beta-oxidation  mitochondrial fatty acid beta-oxidation multienzyme complex  long-chain-enoyl-CoA hydratase activity  long-chain-3-hydroxyacyl-CoA dehydrogenase activity  response to insulin  cardiolipin acyl-chain remodeling  cardiolipin acyl-chain remodeling  response to drug  mitochondrial nucleoid  protein-containing complex binding  NAD+ binding  
Pathways : KEGGFatty acid elongation    Fatty acid degradation    Valine, leucine and isoleucine degradation    Lysine degradation    Tryptophan metabolism    beta-Alanine metabolism    Propanoate metabolism    Butanoate metabolism    Biosynthesis of unsaturated fatty acids   
NDEx NetworkHADHA
Atlas of Cancer Signalling NetworkHADHA
Wikipedia pathwaysHADHA
Orthology - Evolution
OrthoDB3030
GeneTree (enSembl)ENSG00000084754
Phylogenetic Trees/Animal Genes : TreeFamHADHA
Homologs : HomoloGeneHADHA
Homology/Alignments : Family Browser (UCSC)HADHA
Gene fusions - Rearrangements
Fusion : MitelmanHADHA/DNAJC27 [2p23.3/2p23.3]  
Fusion : QuiverHADHA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHADHA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HADHA
dbVarHADHA
ClinVarHADHA
MonarchHADHA
1000_GenomesHADHA 
Exome Variant ServerHADHA
GNOMAD BrowserENSG00000084754
Varsome BrowserHADHA
ACMGHADHA variants
VarityP40939
Genomic Variants (DGV)HADHA [DGVbeta]
DECIPHERHADHA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHADHA 
Mutations
ICGC Data PortalHADHA 
TCGA Data PortalHADHA 
Broad Tumor PortalHADHA
OASIS PortalHADHA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHADHA  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DHADHA
Mutations and Diseases : HGMDHADHA
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaHADHA
DgiDB (Drug Gene Interaction Database)HADHA
DoCM (Curated mutations)HADHA
CIViC (Clinical Interpretations of Variants in Cancer)HADHA
Cancer3DHADHA
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600890    609015    609016   
Orphanet19469    3294    3555   
DisGeNETHADHA
MedgenHADHA
Genetic Testing Registry HADHA
NextProtP40939 [Medical]
GENETestsHADHA
Target ValidationHADHA
Huge Navigator HADHA [HugePedia]
ClinGenHADHA
Clinical trials, drugs, therapy
MyCancerGenomeHADHA
Protein Interactions : CTDHADHA
Pharm GKB GenePA29175
PharosP40939
Clinical trialHADHA
Miscellaneous
canSAR (ICR)HADHA
HarmonizomeHADHA
DataMed IndexHADHA
Probes
Litterature
PubMed207 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXHADHA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:12:00 CEST 2021

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