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HIBADH (3-hydroxyisobutyrate dehydrogenase)

Identity

Alias_symbol (synonym)NS5ATP1
Other alias
HGNC (Hugo) HIBADH
LocusID (NCBI) 11112
Atlas_Id 64262
Location 7p15.2  [Link to chromosome band 7p15]
Location_base_pair Starts at 27525440 and ends at 27663001 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BRAF (7q34) / HIBADH (7p15.2)FAM126A (7p15.3) / HIBADH (7p15.2)GLI3 (7p14.1) / HIBADH (7p15.2)
HIBADH (7p15.2) / BRAF (7q34)HIBADH (7p15.2) / MARCH6 (5p15.2)HIBADH (7p15.2) / SUGCT (7p14.1)
NRIP1 (21q11.2) / HIBADH (7p15.2)RBM19 (12q24.13) / HIBADH (7p15.2)RPN2 (20q11.23) / HIBADH (7p15.2)
NRIP1 HIBADHGLI3 HIBADHBRAF HIBADH
HIBADH C7orf10HIBADH BRAF

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)HIBADH   4907
Cards
Entrez_Gene (NCBI)HIBADH  11112  3-hydroxyisobutyrate dehydrogenase
AliasesNS5ATP1
GeneCards (Weizmann)HIBADH
Ensembl hg19 (Hinxton)ENSG00000106049 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000106049 [Gene_View]  chr7:27525440-27663001 [Contig_View]  HIBADH [Vega]
ICGC DataPortalENSG00000106049
TCGA cBioPortalHIBADH
AceView (NCBI)HIBADH
Genatlas (Paris)HIBADH
WikiGenes11112
SOURCE (Princeton)HIBADH
Genetics Home Reference (NIH)HIBADH
Genomic and cartography
GoldenPath hg38 (UCSC)HIBADH  -     chr7:27525440-27663001 -  7p15.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HIBADH  -     7p15.2   [Description]    (hg19-Feb_2009)
EnsemblHIBADH - 7p15.2 [CytoView hg19]  HIBADH - 7p15.2 [CytoView hg38]
Mapping of homologs : NCBIHIBADH [Mapview hg19]  HIBADH [Mapview hg38]
OMIM608475   
Gene and transcription
Genbank (Entrez)AB050000 AF529362 AK025558 AK311650 AK316605
RefSeq transcript (Entrez)NM_152740
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HIBADH
Cluster EST : UnigeneHs.406758 [ NCBI ]
CGAP (NCI)Hs.406758
Alternative Splicing GalleryENSG00000106049
Gene ExpressionHIBADH [ NCBI-GEO ]   HIBADH [ EBI - ARRAY_EXPRESS ]   HIBADH [ SEEK ]   HIBADH [ MEM ]
Gene Expression Viewer (FireBrowse)HIBADH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11112
GTEX Portal (Tissue expression)HIBADH
Protein : pattern, domain, 3D structure
UniProt/SwissProtP31937   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP31937  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP31937
Splice isoforms : SwissVarP31937
Catalytic activity : Enzyme1.1.1.31 [ Enzyme-Expasy ]   1.1.1.311.1.1.31 [ IntEnz-EBI ]   1.1.1.31 [ BRENDA ]   1.1.1.31 [ KEGG ]   
PhosPhoSitePlusP31937
Domaine pattern : Prosite (Expaxy)3_HYDROXYISOBUT_DH (PS00895)   
Domains : Interpro (EBI)3-OH-isobutyrate_DH-rel_CS    6-PGluconate_DH_C-like    6PGD_dom_2    6PGDH_NADP-bd    HIBADH    HIBADH-related    NAD(P)-bd_dom    NADP-bd   
Domain families : Pfam (Sanger)NAD_binding_11 (PF14833)    NAD_binding_2 (PF03446)   
Domain families : Pfam (NCBI)pfam14833    pfam03446   
Conserved Domain (NCBI)HIBADH
DMDM Disease mutations11112
Blocks (Seattle)HIBADH
PDB (SRS)2GF2    2I9P   
PDB (PDBSum)2GF2    2I9P   
PDB (IMB)2GF2    2I9P   
PDB (RSDB)2GF2    2I9P   
Structural Biology KnowledgeBase2GF2    2I9P   
SCOP (Structural Classification of Proteins)2GF2    2I9P   
CATH (Classification of proteins structures)2GF2    2I9P   
SuperfamilyP31937
Human Protein AtlasENSG00000106049
Peptide AtlasP31937
HPRD12238
IPIIPI00013860   IPI00916071   IPI00915850   
Protein Interaction databases
DIP (DOE-UCLA)P31937
IntAct (EBI)P31937
FunCoupENSG00000106049
BioGRIDHIBADH
STRING (EMBL)HIBADH
ZODIACHIBADH
Ontologies - Pathways
QuickGOP31937
Ontology : AmiGOphosphogluconate dehydrogenase (decarboxylating) activity  mitochondrial matrix  valine catabolic process  valine catabolic process  3-hydroxyisobutyrate dehydrogenase activity  3-hydroxyisobutyrate dehydrogenase activity  branched-chain amino acid catabolic process  NAD binding  oxidation-reduction process  
Ontology : EGO-EBIphosphogluconate dehydrogenase (decarboxylating) activity  mitochondrial matrix  valine catabolic process  valine catabolic process  3-hydroxyisobutyrate dehydrogenase activity  3-hydroxyisobutyrate dehydrogenase activity  branched-chain amino acid catabolic process  NAD binding  oxidation-reduction process  
Pathways : KEGGValine, leucine and isoleucine degradation   
NDEx NetworkHIBADH
Atlas of Cancer Signalling NetworkHIBADH
Wikipedia pathwaysHIBADH
Orthology - Evolution
OrthoDB11112
GeneTree (enSembl)ENSG00000106049
Phylogenetic Trees/Animal Genes : TreeFamHIBADH
HOVERGENP31937
HOGENOMP31937
Homologs : HomoloGeneHIBADH
Homology/Alignments : Family Browser (UCSC)HIBADH
Gene fusions - Rearrangements
Fusion: TCGANRIP1 HIBADH
Fusion: TCGAGLI3 HIBADH
Fusion: TCGABRAF HIBADH
Fusion: TCGAHIBADH C7orf10
Fusion: TCGAHIBADH BRAF
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHIBADH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HIBADH
dbVarHIBADH
ClinVarHIBADH
1000_GenomesHIBADH 
Exome Variant ServerHIBADH
ExAC (Exome Aggregation Consortium)HIBADH (select the gene name)
Genetic variants : HAPMAP11112
Genomic Variants (DGV)HIBADH [DGVbeta]
DECIPHERHIBADH [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHIBADH 
Mutations
ICGC Data PortalHIBADH 
TCGA Data PortalHIBADH 
Broad Tumor PortalHIBADH
OASIS PortalHIBADH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHIBADH  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHIBADH
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 HIBADH
DgiDB (Drug Gene Interaction Database)HIBADH
DoCM (Curated mutations)HIBADH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HIBADH (select a term)
intoGenHIBADH
Cancer3DHIBADH(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608475   
Orphanet
MedgenHIBADH
Genetic Testing Registry HIBADH
NextProtP31937 [Medical]
TSGene11112
GENETestsHIBADH
Target ValidationHIBADH
Huge Navigator HIBADH [HugePedia]
snp3D : Map Gene to Disease11112
BioCentury BCIQHIBADH
ClinGenHIBADH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11112
Chemical/Pharm GKB GenePA29280
Clinical trialHIBADH
Miscellaneous
canSAR (ICR)HIBADH (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHIBADH
EVEXHIBADH
GoPubMedHIBADH
iHOPHIBADH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:52:17 CEST 2017

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