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BBOX1 (gamma-butyrobetaine hydroxylase 1)

Identity

Alias_namesBBOX
butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1
Alias_symbol (synonym)gamma-BBH
G-BBH
BBH
Other alias
HGNC (Hugo) BBOX1
LocusID (NCBI) 8424
Atlas_Id 60712
Location 11p14.2  [Link to chromosome band 11p14]
Location_base_pair Starts at 27040962 and ends at 27127807 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BBOX1 (11p14.2) / FOS (14q24.3)BBOX1 (11p14.2) / KLK7 (19q13.41)CELF1 (11p11.2) / BBOX1 (11p14.2)

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)BBOX1   964
Cards
Entrez_Gene (NCBI)BBOX1  8424  gamma-butyrobetaine hydroxylase 1
AliasesBBH; BBOX; G-BBH; gamma-BBH
GeneCards (Weizmann)BBOX1
Ensembl hg19 (Hinxton)ENSG00000129151 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000129151 [Gene_View]  chr11:27040962-27127807 [Contig_View]  BBOX1 [Vega]
ICGC DataPortalENSG00000129151
TCGA cBioPortalBBOX1
AceView (NCBI)BBOX1
Genatlas (Paris)BBOX1
WikiGenes8424
SOURCE (Princeton)BBOX1
Genetics Home Reference (NIH)BBOX1
Genomic and cartography
GoldenPath hg38 (UCSC)BBOX1  -     chr11:27040962-27127807 +  11p14.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BBOX1  -     11p14.2   [Description]    (hg19-Feb_2009)
EnsemblBBOX1 - 11p14.2 [CytoView hg19]  BBOX1 - 11p14.2 [CytoView hg38]
Mapping of homologs : NCBIBBOX1 [Mapview hg19]  BBOX1 [Mapview hg38]
OMIM603312   
Gene and transcription
Genbank (Entrez)AF082868 AK290108 AK313422 BC011034 CR456812
RefSeq transcript (Entrez)NM_003986
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BBOX1
Cluster EST : UnigeneHs.591996 [ NCBI ]
CGAP (NCI)Hs.591996
Alternative Splicing GalleryENSG00000129151
Gene ExpressionBBOX1 [ NCBI-GEO ]   BBOX1 [ EBI - ARRAY_EXPRESS ]   BBOX1 [ SEEK ]   BBOX1 [ MEM ]
Gene Expression Viewer (FireBrowse)BBOX1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8424
GTEX Portal (Tissue expression)BBOX1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75936   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75936  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75936
Splice isoforms : SwissVarO75936
Catalytic activity : Enzyme1.14.11.1 [ Enzyme-Expasy ]   1.14.11.11.14.11.1 [ IntEnz-EBI ]   1.14.11.1 [ BRENDA ]   1.14.11.1 [ KEGG ]   
PhosPhoSitePlusO75936
Domains : Interpro (EBI)DUF971    GBBH    TauD/TfdA-like   
Domain families : Pfam (Sanger)DUF971 (PF06155)    TauD (PF02668)   
Domain families : Pfam (NCBI)pfam06155    pfam02668   
Conserved Domain (NCBI)BBOX1
DMDM Disease mutations8424
Blocks (Seattle)BBOX1
PDB (SRS)3MS5    3N6W    3O2G    4BG1    4BGK    4BGM    4BHF    4BHG    4BHI    4C5W    4C8R    4CWD   
PDB (PDBSum)3MS5    3N6W    3O2G    4BG1    4BGK    4BGM    4BHF    4BHG    4BHI    4C5W    4C8R    4CWD   
PDB (IMB)3MS5    3N6W    3O2G    4BG1    4BGK    4BGM    4BHF    4BHG    4BHI    4C5W    4C8R    4CWD   
PDB (RSDB)3MS5    3N6W    3O2G    4BG1    4BGK    4BGM    4BHF    4BHG    4BHI    4C5W    4C8R    4CWD   
Structural Biology KnowledgeBase3MS5    3N6W    3O2G    4BG1    4BGK    4BGM    4BHF    4BHG    4BHI    4C5W    4C8R    4CWD   
SCOP (Structural Classification of Proteins)3MS5    3N6W    3O2G    4BG1    4BGK    4BGM    4BHF    4BHG    4BHI    4C5W    4C8R    4CWD   
CATH (Classification of proteins structures)3MS5    3N6W    3O2G    4BG1    4BGK    4BGM    4BHF    4BHG    4BHI    4C5W    4C8R    4CWD   
SuperfamilyO75936
Human Protein AtlasENSG00000129151
Peptide AtlasO75936
HPRD04498
IPIIPI00027416   IPI00983441   IPI00984973   
Protein Interaction databases
DIP (DOE-UCLA)O75936
IntAct (EBI)O75936
FunCoupENSG00000129151
BioGRIDBBOX1
STRING (EMBL)BBOX1
ZODIACBBOX1
Ontologies - Pathways
QuickGOO75936
Ontology : AmiGOiron ion binding  protein binding  mitochondrion  cytosol  zinc ion binding  gamma-butyrobetaine dioxygenase activity  gamma-butyrobetaine dioxygenase activity  gamma-butyrobetaine dioxygenase activity  identical protein binding  carnitine biosynthetic process  carnitine biosynthetic process  carnitine biosynthetic process  oxidation-reduction process  extracellular exosome  
Ontology : EGO-EBIiron ion binding  protein binding  mitochondrion  cytosol  zinc ion binding  gamma-butyrobetaine dioxygenase activity  gamma-butyrobetaine dioxygenase activity  gamma-butyrobetaine dioxygenase activity  identical protein binding  carnitine biosynthetic process  carnitine biosynthetic process  carnitine biosynthetic process  oxidation-reduction process  extracellular exosome  
Pathways : KEGGLysine degradation   
NDEx NetworkBBOX1
Atlas of Cancer Signalling NetworkBBOX1
Wikipedia pathwaysBBOX1
Orthology - Evolution
OrthoDB8424
GeneTree (enSembl)ENSG00000129151
Phylogenetic Trees/Animal Genes : TreeFamBBOX1
HOVERGENO75936
HOGENOMO75936
Homologs : HomoloGeneBBOX1
Homology/Alignments : Family Browser (UCSC)BBOX1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBBOX1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BBOX1
dbVarBBOX1
ClinVarBBOX1
1000_GenomesBBOX1 
Exome Variant ServerBBOX1
ExAC (Exome Aggregation Consortium)BBOX1 (select the gene name)
Genetic variants : HAPMAP8424
Genomic Variants (DGV)BBOX1 [DGVbeta]
DECIPHERBBOX1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBBOX1 
Mutations
ICGC Data PortalBBOX1 
TCGA Data PortalBBOX1 
Broad Tumor PortalBBOX1
OASIS PortalBBOX1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBBOX1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBBOX1
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 BBOX1
DgiDB (Drug Gene Interaction Database)BBOX1
DoCM (Curated mutations)BBOX1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BBOX1 (select a term)
intoGenBBOX1
Cancer3DBBOX1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603312   
Orphanet
MedgenBBOX1
Genetic Testing Registry BBOX1
NextProtO75936 [Medical]
TSGene8424
GENETestsBBOX1
Target ValidationBBOX1
Huge Navigator BBOX1 [HugePedia]
snp3D : Map Gene to Disease8424
BioCentury BCIQBBOX1
ClinGenBBOX1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8424
Chemical/Pharm GKB GenePA25274
Clinical trialBBOX1
Miscellaneous
canSAR (ICR)BBOX1 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBBOX1
EVEXBBOX1
GoPubMedBBOX1
iHOPBBOX1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:02:13 CEST 2017

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