BBOX1 - gamma-butyrobetaine hydroxylase 1 Gene

Also Known as BBH; BBOX; G-BBH; gamma-BBH

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8424

About BBOX1

Cytogenetic location: 11p14.2 Genomic coordinates (GRCh38): 11:27,040,815-27,127,809 (from NCBI)

This gene has 8 transcripts (splice variants), 209 orthologues and 1 paralogue. Biased expression in kidney (RPKM 100.1), liver (RPKM 20.3) and 3 other tissues.

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]

BBOX1 Products (5)

mRNA Protein Name
NM_001376258.1 NP_001363187.1 gamma-butyrobetaine dioxygenase
NM_001376259.1 NP_001363188.1 gamma-butyrobetaine dioxygenase
NM_001376260.1 NP_001363189.1 gamma-butyrobetaine dioxygenase
NM_001376261.1 NP_001363190.1 gamma-butyrobetaine dioxygenase
NM_003986.3 NP_003977.1 gamma-butyrobetaine dioxygenase

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables gamma-butyrobetaine dioxygenase activity EXP
EXP: Inferred from Experiment
9753662 GOA
enables gamma-butyrobetaine dioxygenase activity IDA
IDA: Inferred from direct assay
9753662 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
enables zinc ion binding IDA
IDA: Inferred from direct assay
20599753 GOA
Biological Process GO Annotation Evidence References Source
involved in carnitine biosynthetic process IDA
IDA: Inferred from direct assay
9753662 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BBOX1 Protein Structure

DUF971

DUF971: Protein of unknown function (DUF971) (15 - 60)

TauD

TauD: Taurine catabolism dioxygenase TauD, TfdA family (126 - 366)

  • 0
  • 100
  • 200
  • 300
  • 387 a.a.
Protein Preferred Names Protein Names

gamma-butyrobetaine dioxygenase

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

BBOX1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
BBOX1 O75936 SHTN1 Homo sapiens A0MZ66-7
Validated Y2H
25416956
Intra
BBOX1 O75936 SHTN1 Homo sapiens A0MZ66-7
Y2H Prey Pooling
25416956
Intra
BBOX1 O75936 ITPR2 Homo sapiens Q14571
Anti Tag CoIP
28514442
Intra
BBOX1 O75936 AZI2 Homo sapiens Q9H6S1
Anti Tag CoIP
28514442
Intra
BBOX1 O75936 PRE5 Saccharomyces cerevisiae P40302
Y2H Pooling
27107014
Intra
BBOX1 O75936 CASP2 Homo sapiens P42575
Anti Tag CoIP
33961781
Intra
BBOX1 O75936 ITPRID2 Homo sapiens P28290
Anti Tag CoIP
33961781
Intra
BBOX1 O75936 BBOX1 Homo sapiens O75936
Y2H Prey Pooling
32296183
Intra
BBOX1 O75936 CASP2 Homo sapiens P42575
Anti Tag CoIP
28514442
Intra
BBOX1 O75936 ITPRID2 Homo sapiens P28290
Anti Tag CoIP
28514442
Intra
BBOX1 O75936 BBOX1 Homo sapiens O75936
Validated Y2H
32296183
Intra
BBOX1 O75936 BBOX1 Homo sapiens O75936
Y2H Array
25416956
Intra
BBOX1 O75936 ITPR3 Homo sapiens Q14573
Anti Tag CoIP
33961781
Intra
BBOX1 O75936 BBOX1 Homo sapiens O75936
Y2H Array
32296183
Intra
BBOX1 O75936 ITPR3 Homo sapiens Q14573
Anti Tag CoIP
28514442
Intra
BBOX1 O75936 PRE5 Saccharomyces cerevisiae P40302
Y2H Array
27107014
Intra
BBOX1 O75936 ITPR2 Homo sapiens Q14571
Anti Tag CoIP
33961781
Intra
BBOX1 O75936 AZI2 Homo sapiens Q9H6S1
Anti Tag CoIP
33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant BBOX1 Proteins

Cat. No. Product Name Accession Purity
HY-P76163 BBOX1 Protein, Human (sf9, His-GST) O75936 (M1-N387) ≥ 85%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h

  • Lgmd2h

  • Limb-Girdle Muscular Dystrophy Due To Trim32 Deficiency

  • Muscular Dystrophy Hutterite Type

  • Sarcotubular Myopathy

  • Limb-Girdle Muscular Dystrophy Type 2h
Erysipeloid

  • Infection Due To Erysipelothrix Rhusiopathiae

  • Erysipelothrix Infection
Mulibrey Nanism

  • MUL

  • Muscle-Liver-Brain-Eye Nanism

  • Pericardial Constriction And Growth Failure

  • Perheentupa Syndrome

  • Mulibrey Growth Disorder

  • Mulibrey Nanism Syndrome

  • Pericardial Constriction With Growth Failure

  • Nanism Mulibrey
Advanced Sleep Phase Syndrome, Familial, 1

  • Advanced Sleep Phase Syndrome 1

  • FASPS1

  • Familial Advanced Sleep Phase Syndrome 1

  • Sleep Phase Syndrome, Advanced, Familial, Type 1
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne

  • Papa Syndrome

  • Fra

  • Familial Recurrent Arthritis

  • Pyogenic Arthritis, Pyoderma Gangrenosum And Acne

  • PAPAS

  • Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome

  • Pyogenic Arthritis, Pyoderma Gangrenosum, And Severe Cystic Acne

  • Pyogenic Sterile Arthritis, Pyoderma Gangrenosum And Acne
Bardet-Biedl Syndrome 11

  • BBS11

  • Bardet-Biedl Syndrome

  • Bbs

  • Bardet-Biedl Syndrome, Type 11
Autosomal Recessive Limb-Girdle Muscular Dystrophy

  • Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-B1836S Meldonium-d3 Inhibitor 99.9% Unkown
HY-RS01383 BBOX1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS18804 Bbox1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25293 Bbox1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus BBOX1 VGNC VGNC:26432
Canis familiaris BBOX1 VGNC VGNC:38393
Felis catus BBOX1 VGNC VGNC:69156
Macaca mulatta BBOX1 VGNC VGNC:70233
Rattus norvegicus BBOX1 RGD RGD:619756
Mus musculus BBOX1 MGD MGI:1891372
Others BBOX1 NCBI