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

Other namesECHA
GBP
HADH
LCEH
LCHAD
MTPA
TP-ALPHA
HGNC (Hugo) HADHA
LocusID (NCBI) 3030
Location 2p23.3
Location_base_pair Starts at 26413504 and ends at 26467594 bp from pter ( according to hg19-Feb_2009)
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

External links

Nomenclature
HGNC (Hugo)HADHA   4801
Entrez_Gene (NCBI)HADHA  3030  hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
Cards
GeneCards (Weizmann)HADHA
Ensembl (Hinxton)ENSG00000084754 [Gene_View]  chr2:26413504-26467594 [Contig_View]  HADHA [Vega]
AceView (NCBI)HADHA
Genatlas (Paris)HADHA
SOURCE (Stanford)NM_000182
Genomic and cartography
GoldenPath (UCSC)HADHA  -  2p23.3   chr2:26413504-26467594 -  2p23.3   [Description]    (hg19-Feb_2009)
EnsemblHADHA - 2p23.3 [CytoView]
Mapping of homologs : NCBIHADHA [Mapview]
OMIM600890   609015   609016   
Gene and transcription
Genbank (Entrez)AI972144 AK293398 AK299258 AK302532 AK313027
RefSeq transcript (SRS)NM_000182
RefSeq transcript (Entrez)NM_000182
RefSeq genomic (SRS)AC_000134 NC_000002 NC_018913 NG_007121 NT_022184 NW_001838768 NW_004078005
RefSeq genomic (Entrez)AC_000134 NC_000002 NC_018913 NG_007121 NT_022184 NW_001838768 NW_004078005
Consensus coding sequences : CCDS (NCBI)HADHA
Cluster EST : UnigeneHs.516032 [ SRS ] Hs.516032 [ NCBI ]
CGAP (NCI)Hs.516032
Alternative Splicing : Fast-db (Paris)GSHG0017493
Alternative Splicing GalleryENSG00000084754
Gene ExpressionHADHA [ NCBI-GEO ]   HADHA [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP40939 (SRS) P40939 (Uniprot)
NextProtP40939
With graphics : InterProP40939
Splice isoforms : SwissVarP40939(Swissvar)
Domaine pattern : Prosite (SRS)3HCDH (PS00067)    ENOYL_COA_HYDRATASE (PS00166)   
Domaine pattern : Prosite (Expaxy)3HCDH (PS00067)    ENOYL_COA_HYDRATASE (PS00166)   
Domains : Interpro (SRS)3-OHacyl-CoA_DH_CS    3-OHacyl-CoA_DH_NAD-bd    3HC_DH_C    6-PGluconate_DH_C-like    Crotonase_core_superfam    DH_multihelical    Enoyl-CoA_hyd/isom_CS    Fa_ox_alpha_mit    NAD(P)-bd_dom   
Domains : Interpro (EBI)3-OHacyl-CoA_DH_CS    3-OHacyl-CoA_DH_NAD-bd    3HC_DH_C    6-PGluconate_DH_C-like    Crotonase_core_superfam    DH_multihelical    Enoyl-CoA_hyd/isom_CS    Fa_ox_alpha_mit    NAD(P)-bd_dom   
Related proteins : CluSTrP40939
Domain families : Pfam (SRS)3HCDH (PF00725)    3HCDH_N (PF02737)    ECH (PF00378)   
Domain families : Pfam (Sanger)3HCDH (PF00725)    3HCDH_N (PF02737)    ECH (PF00378)   
Domain families : Pfam (NCBI)pfam00725    pfam02737    pfam00378   
DMDM3030
Blocks (Seattle)P40939
Human Protein AtlasENSG00000084754
HPRD02934
IPIIPI00031522   IPI00908351   IPI01010712   
Protein Interaction databases
DIP (DOE-UCLA)P40939
IntAct (EBI)P40939
FunCoupENSG00000084754
REACTOMEHADHA
Protein Interaction Database3030
BioGRIDHADHA
InParanoidP40939
Interologous Interaction database P40939
IntegromeDBHADHA
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)HADHA
SNP (GeneSNP Utah)HADHA
SNP : HGBaseHADHA
Genetic variants : HAPMAPHADHA
Somatic Mutations in Cancer : COSMICHADHA 
CONAN: Copy Number AnalysisHADHA 
Mutations and Diseases : HGMDHADHA
OMIM600890    609015    609016   
GENETests600890    609015    609016   
Disease Genetic AssociationHADHA
Huge Navigator HADHA [HugePedia]  HADHA [HugeCancerGEM]
Genomic VariantsHADHA  HADHA [DGVbeta]
ClinVarHADHA
snp3D : Map Gene to Disease3030
General knowledge
Homologs : HomoloGeneHADHA
Homology/Alignments : Family Browser (UCSC)HADHA
Phylogenetic Trees/Animal Genes : TreeFamHADHA
Catalytic activity : Enzyme4.2.1.17 [ Enzyme-Expasy ]   4.2.1.17 [ Enzyme-SRS ]   4.2.1.17 [ IntEnz-EBI ]   4.2.1.17 [ BRENDA ]   4.2.1.17 [ KEGG ]   
Chemical/Protein Interactions : CTD3030
Chemical/Pharm GKB GenePA29175
Clinical trialHADHA
Cancer Resource (Charite)ENSG00000084754
Ontology : AmiGOfatty-acyl-CoA binding  3-hydroxyacyl-CoA dehydrogenase activity  acetyl-CoA C-acetyltransferase activity  enoyl-CoA hydratase activity  protein binding  nucleolus  cytoplasm  mitochondrion  mitochondrial inner membrane  fatty acid beta-oxidation  fatty acid beta-oxidation  phospholipid metabolic process  mitochondrial fatty acid beta-oxidation multienzyme complex  long-chain-enoyl-CoA hydratase activity  long-chain-3-hydroxyacyl-CoA dehydrogenase activity  protein complex binding  response to insulin stimulus  cardiolipin acyl-chain remodeling  response to drug  mitochondrial nucleoid  cellular lipid metabolic process  small molecule metabolic process  glycerophospholipid biosynthetic process  NAD binding  
Ontology : EGO-EBIfatty-acyl-CoA binding  3-hydroxyacyl-CoA dehydrogenase activity  acetyl-CoA C-acetyltransferase activity  enoyl-CoA hydratase activity  protein binding  nucleolus  cytoplasm  mitochondrion  mitochondrial inner membrane  fatty acid beta-oxidation  fatty acid beta-oxidation  phospholipid metabolic process  mitochondrial fatty acid beta-oxidation multienzyme complex  long-chain-enoyl-CoA hydratase activity  long-chain-3-hydroxyacyl-CoA dehydrogenase activity  protein complex binding  response to insulin stimulus  cardiolipin acyl-chain remodeling  response to drug  mitochondrial nucleoid  cellular lipid metabolic process  small molecule metabolic process  glycerophospholipid biosynthetic process  NAD binding  
Pathways : KEGGPropanoate metabolismFatty acid elongation in mitochondriaButanoate metabolismBenzoate degradation via CoA ligationbeta-Alanine metabolismFatty acid metabolismValine, leucine and isoleucine degradationTryptophan metabolismCaprolactam degradationLimonene and pinene degradationLysine degradation
Other databases
Probes
Litterature
PubMed87 Pubmed reference(s) in Entrez
PubGeneHADHA
iHOPHADHA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jun 14 17:32:05 CEST 2013
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