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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]
BBOX1 (Gamma-Butyrobetaine Hydroxylase 1) is a Protein Coding gene. Diseases associated with BBOX1 include Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2H and Erysipeloid. Among its related pathways are Valine, leucine and isoleucine degradation and Lysine degradation. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and 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. An important paralog of this gene is TMLHE.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005506 | iron ion binding | IEA | -- |
GO:0005515 | protein binding | IPI | 25416956 |
GO:0008270 | zinc ion binding | IDA | 20599753 |
GO:0008336 | gamma-butyrobetaine dioxygenase activity | IBA,ISS | 10526231 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005739 | mitochondrion | IBA | 21873635 |
GO:0005829 | cytosol | TAS | -- |
GO:0070062 | extracellular exosome | HDA | 19056867 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Valine, leucine and isoleucine degradation | ||
2 | Metabolism |
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3 | Lysine degradation | ||
4 | Viral mRNA Translation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0045329 | carnitine biosynthetic process | TAS | -- |
GO:0055114 | oxidation-reduction process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Vitamin C | Approved | Nutra | Target, cofactor | 748,748 | ||
Oxygen | Approved, Vet_approved | Pharma | 0 | |||
Carbon dioxide | Approved, Investigational, Vet_approved | Pharma | 0 | |||
Iron | Approved, Experimental | Pharma | 1560 | |||
L-Carnitine | Approved, Investigational | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
3-Dehydroxycarnitine |
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4-Trimethylammoniobutanoic acid |
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407-64-7 |
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N1-acetylspermine |
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25593-72-0 |
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Norspermidine |
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56-18-8 |
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This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BBOX1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BBOX1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BBOX1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Bbox1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Bbox1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | BBOX1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | BBOX1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | BBOX1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | BBOX1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bbox1 30 |
|
||
Str.15406 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | bbox1 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.7154 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG5321 30 31 32 |
|
OneToMany | |
EG:BACR7A4.9 32 |
|
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|||
CG10814 31 32 |
|
OneToMany | |||
CG14630 31 |
|
OneToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008246 30 |
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||
Worm (Caenorhabditis elegans) |
Secernentea | gbh-1 30 31 32 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | AIM17 31 |
|
OneToMany | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU06891 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1727n54 | CNV | gain | 21841781 |
esv3625759 | CNV | gain | 21293372 |
esv3625760 | CNV | gain | 21293372 |
esv3625763 | CNV | loss | 21293372 |
esv3625764 | CNV | gain | 21293372 |
esv3891957 | CNV | gain | 25118596 |
nsv508619 | CNV | deletion | 20534489 |
nsv7720 | CNV | deletion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
autosomal recessive limb-girdle muscular dystrophy type 2h |
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erysipeloid |
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endometrial mixed adenocarcinoma |
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opitz-gbbb syndrome |
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mental retardation, autosomal dominant 10 |
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