BBOX1 (gamma-butyrobetaine hydroxylase 1)

2014-11-01  

Identity

HGNC
LOCATION
11p14.2
LOCUSID
ALIAS
BBH,BBOX,G-BBH,gamma-BBH
FUSION GENES

Other Information

Locus ID:

NCBI: 8424
MIM: 603312
HGNC: 964
Ensembl: ENSG00000129151

Variants:

dbSNP: 8424
ClinVar: 8424
TCGA: ENSG00000129151
COSMIC: BBOX1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000129151ENST00000263182O75936
ENSG00000129151ENST00000525090O75936
ENSG00000129151ENST00000528583O75936
ENSG00000129151ENST00000529202O75936
ENSG00000129151ENST00000533566E9PKC9

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Lysine degradationKEGGko00310
Lysine degradationKEGGhsa00310
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Branched-chain amino acid catabolismREACTOMER-HSA-70895
Carnitine synthesisREACTOMER-HSA-71262

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
171101652006Genomic structure, alternative maturation and tissue expression of the human BBOX1 gene.12
205997532010Crystal structure of human gamma-butyrobetaine hydroxylase.7
290653682018BBOX1 is down-regulated in maternal immune-activated mice and implicated in genetic susceptibility to human schizophrenia.2
308191812019Bioinformatics-based discovery of the urinary BBOX1 mRNA as a potential biomarker of diabetic kidney disease.0

Citation

Dessen P

BBOX1 (gamma-butyrobetaine hydroxylase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60712/bbox1