BBOX1 - gamma-butyrobetaine hydroxylase 1 Gene

中文名称：γ-丁基甜菜碱羟化酶 1

种属: Homo sapiens

同用名: BBH; BBOX; G-BBH; gamma-BBH

基因 ID: 8424 | 基因类型: protein coding

关于 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.

功能概要

该基因编码γ-丁基甜菜碱羟化酶，该酶催化γ-丁基甜菜碱形成 L-肉碱，这是 L-肉碱生物合成途径的最后一步。肉碱对于在线粒体 β 氧化过程中活化脂肪酸跨线粒体膜的转运至关重要。[RefSeq 提供，2008 年 7 月]

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 基因产物(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

基因本体论

分子功能
生物过程

分子功能 GO 注释	逻辑证据	参考文献	来源
enables gamma-butyrobetaine dioxygenase activity	EXP EXP: 通过实验结果推断	9753662	GOA
enables gamma-butyrobetaine dioxygenase activity	IDA IDA: 通过直接分析推断	9753662	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	25416956	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	25416956	GOA
enables zinc ion binding	IDA IDA: 通过直接分析推断	20599753	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in carnitine biosynthetic process	IDA IDA: 通过直接分析推断	9753662	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

BBOX1 蛋白结构

DUF971

TauD

0
100
200
300
387 a.a.

蛋白主名

其他名称

gamma-butyrobetaine dioxygenase

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

BBOX1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	BBOX1	O75936	SHTN1	Homo sapiens	A0MZ66-7	Validated Y2H	25416956
种属内	BBOX1	O75936	SHTN1	Homo sapiens	A0MZ66-7	Y2H Prey Pooling	25416956
种属内	BBOX1	O75936	ITPR2	Homo sapiens	Q14571	Anti Tag CoIP	28514442
种属内	BBOX1	O75936	AZI2	Homo sapiens	Q9H6S1	Anti Tag CoIP	28514442
种属内	BBOX1	O75936	PRE5	Saccharomyces cerevisiae	P40302	Y2H Pooling	27107014
种属内	BBOX1	O75936	CASP2	Homo sapiens	P42575	Anti Tag CoIP	33961781
种属内	BBOX1	O75936	ITPRID2	Homo sapiens	P28290	Anti Tag CoIP	33961781
种属内	BBOX1	O75936	BBOX1	Homo sapiens	O75936	Y2H Prey Pooling	32296183
种属内	BBOX1	O75936	CASP2	Homo sapiens	P42575	Anti Tag CoIP	28514442
种属内	BBOX1	O75936	ITPRID2	Homo sapiens	P28290	Anti Tag CoIP	28514442
种属内	BBOX1	O75936	BBOX1	Homo sapiens	O75936	Validated Y2H	32296183
种属内	BBOX1	O75936	BBOX1	Homo sapiens	O75936	Y2H Array	25416956
种属内	BBOX1	O75936	ITPR3	Homo sapiens	Q14573	Anti Tag CoIP	33961781
种属内	BBOX1	O75936	BBOX1	Homo sapiens	O75936	Y2H Array	32296183
种属内	BBOX1	O75936	ITPR3	Homo sapiens	Q14573	Anti Tag CoIP	28514442
种属内	BBOX1	O75936	PRE5	Saccharomyces cerevisiae	P40302	Y2H Array	27107014
种属内	BBOX1	O75936	ITPR2	Homo sapiens	Q14571	Anti Tag CoIP	33961781
种属内	BBOX1	O75936	AZI2	Homo sapiens	Q9H6S1	Anti Tag CoIP	33961781

种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 BBOX1 蛋白

目录号	产品名	蛋白编号	纯度
HY-P76163	BBOX1 Protein, Human (sf9, His-GST)	O75936 (M1-N387)	≥95%

关联疾病

疾病名称

别名

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

疾病名称	别名
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

目录号	产品名	作用方式	纯度	是否罕见病
HY-B1836	Meldonium	Activator	99.82%	否
HY-B1836A	Meldonium dihydrate	Activator	≥99.0%	否

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS01383	BBOX1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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