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BBOX1

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
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Group enriched (glioma, renal cancer)
HPA (cell line):Cell line enhanced (hTCEpi, RPTEC TERT1)
HPA (normal tissue):Tissue enriched (kidney)

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Selective cytoplasmic expression in renal tubules.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 1 antibody.
HPA007600
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PROGNOSTIC SUMMARY
Prognostic marker in renal cancer (favourable) and endometrial cancer (unfavourable).
Renal cancer p<0.001
Endometrial cancer p<0.001
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Group enriched (glioma, renal cancer)

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Renal cancer

STAINING SUMMARY
HPA007600

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
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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

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The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.