ENSG00000129151


Homo sapiens

Features
Gene ID: ENSG00000129151
  
Biological name :BBOX1
  
Synonyms : BBOX1 / gamma-butyrobetaine hydroxylase 1 / O75936
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: p14.2
Gene start: 27040725
Gene end: 27127809
  
Corresponding Affymetrix probe sets: 205363_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000263182
Ensembl peptide - ENSP00000434918
Ensembl peptide - ENSP00000435369
Ensembl peptide - ENSP00000435781
Ensembl peptide - ENSP00000433772
NCBI entrez gene - 8424     See in Manteia.
OMIM - 603312
RefSeq - XM_017018403
RefSeq - NM_003986
RefSeq - XM_005253160
RefSeq - XM_005253161
RefSeq - XM_011520402
RefSeq - XM_005253159
RefSeq Peptide - NP_003977
swissprot - O75936
swissprot - E9PKC9
Ensembl - ENSG00000129151
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 bbox1ENSDARG00000036135Danio rerio
 BBOX1ENSGALG00000013297Gallus gallus
 Bbox1ENSMUSG00000041660Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TMLHE / Q9NVH6 / trimethyllysine hydroxylase, epsilonENSG0000018597326


Protein motifs (from Interpro)
Interpro ID Name
 IPR003819  TauD/TfdA-like domain
 IPR010376  Gamma-butyrobetaine hydroxylase-like, N-terminal
 IPR012775  Gamma-butyrobetaine hydroxylase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0045329 carnitine biosynthetic process TAS
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005506 iron ion binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008270 zinc ion binding IDA
 molecular_functionGO:0008336 gamma-butyrobetaine dioxygenase activity EXP
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051213 dioxygenase activity IEA


Pathways (from Reactome)
Pathway description
Carnitine synthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000129151 BBOX1 / O75936 / gamma-butyrobetaine hydroxylase 1  / complex






 

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