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HIBADH (3-hydroxyisobutyrate dehydrogenase)

Identity

Alias (NCBI)NS5ATP1
HGNC (Hugo) HIBADH
HGNC Alias symbNS5ATP1
LocusID (NCBI) 11112
Atlas_Id 64262
Location 7p15.2  [Link to chromosome band 7p15]
Location_base_pair Starts at 27525442 and ends at 27662883 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)
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    3-hydroxyisobutyrate dehydrogenase
AliasesNS5ATP1
GeneCards (Weizmann)HIBADH
Ensembl hg19 (Hinxton)ENSG00000106049 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000106049 [Gene_View]  ENSG00000106049 [Sequence]  chr7:27525442-27662883 [Contig_View]  HIBADH [Vega]
ICGC DataPortalENSG00000106049
TCGA cBioPortalHIBADH
AceView (NCBI)HIBADH
Genatlas (Paris)HIBADH
SOURCE (Princeton)HIBADH
Genetics Home Reference (NIH)HIBADH
Genomic and cartography
GoldenPath hg38 (UCSC)HIBADH  -     chr7:27525442-27662883 -  7p15.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HIBADH  -     7p15.2   [Description]    (hg19-Feb_2009)
GoldenPathHIBADH - 7p15.2 [CytoView hg19]  HIBADH - 7p15.2 [CytoView hg38]
ImmunoBaseENSG00000106049
Genome Data Viewer NCBIHIBADH [Mapview hg19]  
OMIM608475   
Gene and transcription
Genbank (Entrez)AB050000 AF529362 AK025558 AK311650 AK316605
RefSeq transcript (Entrez)NM_152740
Consensus coding sequences : CCDS (NCBI)HIBADH
Gene ExpressionHIBADH [ NCBI-GEO ]   HIBADH [ EBI - ARRAY_EXPRESS ]   HIBADH [ SEEK ]   HIBADH [ MEM ]
Gene Expression Viewer (FireBrowse)HIBADH [ Firebrowse - Broad ]
GenevisibleExpression of HIBADH in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11112
GTEX Portal (Tissue expression)HIBADH
Human Protein AtlasENSG00000106049-HIBADH [pathology]   [cell]   [tissue]
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
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 ]   [ MEROPS ]
PhosPhoSitePlusP31937
Domaine pattern : Prosite (Expaxy)3_HYDROXYISOBUT_DH (PS00895)   
Domains : Interpro (EBI)3-OH-isobutyrate_DH-rel_CS    6-PGluconate_DH-like_C_sf    6PGD_dom2    6PGDH_NADP-bd    HIBADH    HIBADH-related    NAD(P)-bd_dom_sf    NADP-bd   
Domain families : Pfam (Sanger)NAD_binding_11 (PF14833)    NAD_binding_2 (PF03446)   
Domain families : Pfam (NCBI)pfam14833    pfam03446   
Conserved Domain (NCBI)HIBADH
PDB (RSDB)2GF2    2I9P   
PDB Europe2GF2    2I9P   
PDB (PDBSum)2GF2    2I9P   
PDB (IMB)2GF2    2I9P   
Structural Biology KnowledgeBase2GF2    2I9P   
SCOP (Structural Classification of Proteins)2GF2    2I9P   
CATH (Classification of proteins structures)2GF2    2I9P   
SuperfamilyP31937
AlphaFold pdb e-kbP31937   
Human Protein Atlas [tissue]ENSG00000106049-HIBADH [tissue]
HPRD12238
Protein Interaction databases
DIP (DOE-UCLA)P31937
IntAct (EBI)P31937
BioGRIDHIBADH
STRING (EMBL)HIBADH
ZODIACHIBADH
Ontologies - Pathways
QuickGOP31937
Ontology : AmiGOprotein binding  mitochondrion  mitochondrial matrix  valine catabolic process  valine catabolic process  valine catabolic process  3-hydroxyisobutyrate dehydrogenase activity  3-hydroxyisobutyrate dehydrogenase activity  branched-chain amino acid catabolic process  oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor  NADP binding  NAD binding  
Ontology : EGO-EBIprotein binding  mitochondrion  mitochondrial matrix  valine catabolic process  valine catabolic process  valine catabolic process  3-hydroxyisobutyrate dehydrogenase activity  3-hydroxyisobutyrate dehydrogenase activity  branched-chain amino acid catabolic process  oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor  NADP binding  NAD binding  
Pathways : KEGGKEGG_hsa00280 Valine, leucine and isoleucine degradation   
NDEx NetworkHIBADH
Atlas of Cancer Signalling NetworkHIBADH
Wikipedia pathwaysHIBADH
Orthology - Evolution
OrthoDB11112
GeneTree (enSembl)ENSG00000106049
Phylogenetic Trees/Animal Genes : TreeFamHIBADH
Homologs : HomoloGeneHIBADH
Homology/Alignments : Family Browser (UCSC)HIBADH
Gene fusions - Rearrangements
Fusion : QuiverHIBADH
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHIBADH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HIBADH
dbVarHIBADH
ClinVarHIBADH
MonarchHIBADH
1000_GenomesHIBADH 
Exome Variant ServerHIBADH
GNOMAD BrowserENSG00000106049
Varsome BrowserHIBADH
ACMGHIBADH variants
VarityP31937
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]  
Somatic Mutations in Cancer : COSMIC3DHIBADH
Mutations and Diseases : HGMDHIBADH
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaHIBADH
DgiDB (Drug Gene Interaction Database)HIBADH
DoCM (Curated mutations)HIBADH
CIViC (Clinical Interpretations of Variants in Cancer)HIBADH
Cancer3DHIBADH
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608475   
Orphanet
DisGeNETHIBADH
MedgenHIBADH
Genetic Testing Registry HIBADH
NextProtP31937 [Medical]
GENETestsHIBADH
Target ValidationHIBADH
Huge Navigator HIBADH [HugePedia]
ClinGenHIBADH
Clinical trials, drugs, therapy
MyCancerGenomeHIBADH
Protein Interactions : CTDHIBADH
Pharm GKB GenePA29280
PharosP31937
Clinical trialHIBADH
Miscellaneous
canSAR (ICR)HIBADH
HarmonizomeHIBADH
ARCHS4HIBADH
DataMed IndexHIBADH
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXHIBADH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 20 13:21:54 CET 2022

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