BBOX1

GENERAL INFORMATION

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Gene name

BBOX1

Gene description

Butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1

Protein class

Enzymes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

5
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enriched (kidney)
GTEx:Tissue enhanced (kidney)

Protein evidence

Evidence at protein level

Protein localization

Selective cytoplasmic expression in renal tubules.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Supportive based on 1 antibody.
HPA007600
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Gallbladder

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enriched (kidney)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (kidney)

Organ

Expression



GENE INFORMATION

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Gene name

BBOX1 (HGNC Symbol)

Synonyms

BBH, BBOX, G-BBH, gamma-BBH

Description

Butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 (HGNC Symbol)

Entrez gene summary

This gene encodes gamma butyrobetaine hydroxylase which catalyzes the formation of L-carnitine from gamma-butyrobetaine, the last step in the L-carnitine biosynthetic pathway. Carnitine is essential for the transport of activated fatty acids across the mitochondrial membrane during mitochondrial beta-oxidation. [provided by RefSeq, Jul 2008]

Chromosome

11

Cytoband

p14.2

Chromosome location (bp)

27040725 - 27127809

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000129151 (version 78.38)

Entrez gene

8424

UniProt

O75936 (UniProt - Evidence at protein level)

neXtProt

NX_O75936

Antibodypedia

BBOX1 antibodies


PROTEIN BROWSER

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ENST00000263182
 
ENST00000525090
 
ENST00000528583
 
ENST00000529202
 
ENST00000533566
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

BBOX1-001 ENSP00000435781
ENST00000529202
O75936
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Show » Show » 387 44.7 No 0
BBOX1-002 ENSP00000434918
ENST00000528583
O75936
Show all »
Show » Show » 387 44.7 No 0
BBOX1-004 ENSP00000433772
ENST00000525090
O75936
Show all »
Show » Show » 387 44.7 No 0
BBOX1-006 ENSP00000435369
ENST00000533566
E9PKC9
Show all »
Show » 68 7.6 No 0
BBOX1-201 ENSP00000263182
ENST00000263182
O75936
Show all »
Show » Show » 387 44.7 No 0