We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
Fields »
 

Field

Term
Gene name

Class

Subclass

Chromosome

External id

In atlas

Reliability

Reliability

Reliability

Validation

Method

Validation

Method

Validation

Method

Validation

Location

Searches

Tissue

Cell type

Expression

Tissue

Specificity

Cell line

Specificity

Tissue

Detectable

Cell line

Detectable

Category

Score

Score

Score

Antibodies

Column

 
 
ABOUT
HELP
BLOG
  • THE HUMAN PROTEOME
  • THE HUMAN TISSUES
  • THE HUMAN CELL
  • PROTEIN CLASSES
  • PROTEIN EVIDENCE
    • NEWS
    • BLOG
    • EVENTS
    • PRESS ROOM
    • LEARN
    • DICTIONARY
    • METHODS
    • CELL LINES
  • THE PROJECT
  • INTRODUCTION
  • ORGANIZATION
  • PUBLICATIONS
  • PUBLICATION DATA
  • ANTIBODY SUBMISSION
  • ANTIBODY AVAILABILITY
  • LINKS
  • CONTACT
  • TECHNICAL DATA
  • ANTIBODY VALIDATION
  • ASSAYS & ANNOTATION
  • DISCLAIMER
  • DOWNLOADABLE DATA
  • HELP & FAQ
  • LICENCE & CITATION
  • PRIVACY STATEMENT
  • RELEASE HISTORY
BBOX1
  • premium

    TISSUE

  • CELL

  • CANCER

TISSUE ATLAS PRIMARY DATA
MOUSE BRAIN

GENE/PROTEIN

Antibody validation


Dictionary


Tissue proteome

GENERAL INFORMATION

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
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:Tissue enriched (kidney)
GTEx:Tissue enhanced (kidney)
FANTOM5:Tissue enriched (kidney)

Protein evidence

Evidence at protein level

Protein expression

Selective cytoplasmic expression in renal tubules.

DATA RELIABILITY

Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Reliability score

Supported based on 1 antibody.
HPA007600
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM) Protein expression (score)
Brain
Cerebral cortex
Hippocampus
N/A
Caudate
N/A
Cerebellum
N/A
Endocrine tissues
Thyroid gland
Parathyroid gland
Adrenal gland
Bone marrow & immune system
Appendix
Bone marrow
Lymph node
Tonsil
Spleen
Muscle tissues
Heart muscle
Skeletal muscle
Smooth muscle
Lung
Nasopharynx
N/A
Bronchus
N/A
Lung
Liver & gallbladder
Liver
Gallbladder
Pancreas
Pancreas
Gastrointestinal tract
Oral mucosa
N/A
Salivary gland
Esophagus
Stomach
Duodenum
Small intestine
Colon
Rectum
Kidney & urinary bladder
Kidney
Urinary bladder
Male tissues
Testis
Epididymis
Prostate
Seminal vesicle
Female tissues
Breast
Vagina
N/A
Cervix, uterine
Endometrium
Fallopian tube
Ovary
Placenta
Adipose & soft tissue
Adipose tissue
Soft tissue
N/A
Skin
Skin
Cerebral cortex

Lymph node

Liver

Gallbladder

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW

Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW

HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (kidney)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (kidney)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (kidney)

GENE INFORMATION

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 83.38)

Entrez gene

8424

UniProt

O75936 (UniProt - Evidence at protein level)

neXtProt

NX_O75936

Antibodypedia

BBOX1 antibodies

PROTEIN BROWSER

BBOX1-001
BBOX1-002
BBOX1-004
BBOX1-006
BBOX1-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)

BBOX1-001
ENSP00000435781
ENST00000529202
O75936 [Direct mapping]
Gamma-butyrobetaine dioxygenase
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005506 [iron ion binding]
GO:0005515 [protein binding]
GO:0005829 [cytosol]
GO:0008270 [zinc ion binding]
GO:0008336 [gamma-butyrobetaine dioxygenase activity]
GO:0009083 [branched-chain amino acid catabolic process]
GO:0016491 [oxidoreductase activity]
GO:0016706 [oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0045329 [carnitine biosynthetic process]
GO:0055114 [oxidation-reduction process]
GO:0070062 [extracellular exosome]
Show all
387 aa
44.7 kDa
No 0
BBOX1-002
ENSP00000434918
ENST00000528583
O75936 [Direct mapping]
Gamma-butyrobetaine dioxygenase
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005506 [iron ion binding]
GO:0005515 [protein binding]
GO:0005829 [cytosol]
GO:0008270 [zinc ion binding]
GO:0008336 [gamma-butyrobetaine dioxygenase activity]
GO:0009083 [branched-chain amino acid catabolic process]
GO:0016491 [oxidoreductase activity]
GO:0016706 [oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0045329 [carnitine biosynthetic process]
GO:0055114 [oxidation-reduction process]
GO:0070062 [extracellular exosome]
Show all
387 aa
44.7 kDa
No 0
BBOX1-004
ENSP00000433772
ENST00000525090
O75936 [Direct mapping]
Gamma-butyrobetaine dioxygenase
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005506 [iron ion binding]
GO:0005515 [protein binding]
GO:0005829 [cytosol]
GO:0008270 [zinc ion binding]
GO:0008336 [gamma-butyrobetaine dioxygenase activity]
GO:0009083 [branched-chain amino acid catabolic process]
GO:0016491 [oxidoreductase activity]
GO:0016706 [oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0045329 [carnitine biosynthetic process]
GO:0055114 [oxidation-reduction process]
GO:0070062 [extracellular exosome]
Show all
387 aa
44.7 kDa
No 0
BBOX1-006
ENSP00000435369
ENST00000533566
E9PKC9 [Direct mapping]
Gamma-butyrobetaine dioxygenase
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
68 aa
7.6 kDa
No 0
BBOX1-201
ENSP00000263182
ENST00000263182
O75936 [Direct mapping]
Gamma-butyrobetaine dioxygenase
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005506 [iron ion binding]
GO:0005515 [protein binding]
GO:0005739 [mitochondrion]
GO:0005829 [cytosol]
GO:0008270 [zinc ion binding]
GO:0008336 [gamma-butyrobetaine dioxygenase activity]
GO:0009083 [branched-chain amino acid catabolic process]
GO:0016491 [oxidoreductase activity]
GO:0016706 [oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0045329 [carnitine biosynthetic process]
GO:0055114 [oxidation-reduction process]
GO:0070062 [extracellular exosome]
Show all
387 aa
44.7 kDa
No 0

Contact

  • BLOG
  • PRESS ROOM
  • contact@proteinatlas.org

The Project

  • INTRODUCTION
  • ORGANIZATION
  • PUBLICATIONS
  • DOWNLOADABLE DATA

The Human Protein Atlas

  • ANTIBODY AVAILABILITY
  • LICENCE & CITATION
  • HELP & FAQ
The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.