Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HADHA (hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit)

Identity

Alias_nameshydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein)
Alias_symbol (synonym)GBP
LCEH
LCHAD
MTPA
Other aliasECHA
HADH
TP-ALPHA
HGNC (Hugo) HADHA
LocusID (NCBI) 3030
Atlas_Id 52828
Location 2p23.3  [Link to chromosome band 2p23]
Location_base_pair Starts at 26190635 and ends at 26244726 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
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  3030  hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
AliasesECHA; GBP; HADH; LCEH; 
LCHAD; MTPA; TP-ALPHA
GeneCards (Weizmann)HADHA
Ensembl hg19 (Hinxton)ENSG00000084754 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000084754 [Gene_View]  chr2:26190635-26244726 [Contig_View]  HADHA [Vega]
ICGC DataPortalENSG00000084754
TCGA cBioPortalHADHA
AceView (NCBI)HADHA
Genatlas (Paris)HADHA
WikiGenes3030
SOURCE (Princeton)HADHA
Genetics Home Reference (NIH)HADHA
Genomic and cartography
GoldenPath hg38 (UCSC)HADHA  -     chr2:26190635-26244726 -  2p23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HADHA  -     2p23.3   [Description]    (hg19-Feb_2009)
EnsemblHADHA - 2p23.3 [CytoView hg19]  HADHA - 2p23.3 [CytoView hg38]
Mapping of homologs : NCBIHADHA [Mapview hg19]  HADHA [Mapview hg38]
OMIM600890   609015   609016   
Gene and transcription
Genbank (Entrez)AI972144 AK293398 AK299258 AK302532 AK313027
RefSeq transcript (Entrez)NM_000182
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HADHA
Cluster EST : UnigeneHs.516032 [ NCBI ]
CGAP (NCI)Hs.516032
Alternative Splicing GalleryENSG00000084754
Gene ExpressionHADHA [ NCBI-GEO ]   HADHA [ EBI - ARRAY_EXPRESS ]   HADHA [ SEEK ]   HADHA [ MEM ]
Gene Expression Viewer (FireBrowse)HADHA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3030
GTEX Portal (Tissue expression)HADHA
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
Splice isoforms : SwissVarP40939
Catalytic activity : Enzyme4.2.1.17 [ Enzyme-Expasy ]   4.2.1.174.2.1.17 [ IntEnz-EBI ]   4.2.1.17 [ BRENDA ]   4.2.1.17 [ KEGG ]   
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_C-like    6PGD_dom_2    ClpP/crotonase-like_dom    Crotonase_core_superfam    Enoyl-CoA_hyd/isom_CS    Fa_ox_alpha_mit    NAD(P)-bd_dom   
Domain families : Pfam (Sanger)3HCDH (PF00725)    3HCDH_N (PF02737)    ECH_1 (PF00378)   
Domain families : Pfam (NCBI)pfam00725    pfam02737    pfam00378   
Conserved Domain (NCBI)HADHA
DMDM Disease mutations3030
Blocks (Seattle)HADHA
SuperfamilyP40939
Human Protein AtlasENSG00000084754
Peptide AtlasP40939
HPRD02934
IPIIPI00031522   IPI00908351   IPI01010712   
Protein Interaction databases
DIP (DOE-UCLA)P40939
IntAct (EBI)P40939
FunCoupENSG00000084754
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  mitochondrial inner membrane  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  extracellular matrix  protein complex binding  response to insulin  cardiolipin acyl-chain remodeling  response to drug  mitochondrial nucleoid  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  mitochondrial inner membrane  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  extracellular matrix  protein complex binding  response to insulin  cardiolipin acyl-chain remodeling  response to drug  mitochondrial nucleoid  NAD binding  
Pathways : KEGG   
NDEx NetworkHADHA
Atlas of Cancer Signalling NetworkHADHA
Wikipedia pathwaysHADHA
Orthology - Evolution
OrthoDB3030
GeneTree (enSembl)ENSG00000084754
Phylogenetic Trees/Animal Genes : TreeFamHADHA
HOVERGENP40939
HOGENOMP40939
Homologs : HomoloGeneHADHA
Homology/Alignments : Family Browser (UCSC)HADHA
Gene fusions - Rearrangements
Fusion : MitelmanHADHA/DNAJC27 [2p23.3/2p23.3]  
Fusion: TCGAHADHA 2p23.3 DNAJC27 2p23.3 BLCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHADHA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HADHA
dbVarHADHA
ClinVarHADHA
1000_GenomesHADHA 
Exome Variant ServerHADHA
ExAC (Exome Aggregation Consortium)HADHA (select the gene name)
Genetic variants : HAPMAP3030
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]  
Mutations and Diseases : HGMDHADHA
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch HADHA
DgiDB (Drug Gene Interaction Database)HADHA
DoCM (Curated mutations)HADHA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HADHA (select a term)
intoGenHADHA
Cancer3DHADHA(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600890    609015    609016   
Orphanet19469    3294    3555   
MedgenHADHA
Genetic Testing Registry HADHA
NextProtP40939 [Medical]
TSGene3030
GENETestsHADHA
Huge Navigator HADHA [HugePedia]
snp3D : Map Gene to Disease3030
BioCentury BCIQHADHA
ClinGenHADHA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3030
Chemical/Pharm GKB GenePA29175
Clinical trialHADHA
Miscellaneous
canSAR (ICR)HADHA (select the gene name)
Probes
Litterature
PubMed123 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHADHA
EVEXHADHA
GoPubMedHADHA
iHOPHADHA
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 : Fri May 19 12:18:20 CEST 2017

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