ALDOB - aldolase, fructose-bisphosphate B Gene

中文名称：醛缩酶，果糖二磷酸 B

种属: Homo sapiens

同用名: ALDB; ALDO2

基因 ID: 229 | 基因类型: protein coding

关于 ALDOB

Cytogenetic location: 9q31.1 Genomic coordinates (GRCh38): 9:101,420,560-101,435,774 (from NCBI)

This gene has 8 transcripts (splice variants), 220 orthologues, 2 paralogues and is associated with 2 phenotypes. Biased expression in kidney (RPKM 2378.7), small intestine (RPKM 1833.7) and 2 other tissues.

功能概要

1,6-二磷酸果糖醛缩酶 (EC 4.1.2.13) 是一种四聚体糖酵解酶，可催化 1,6-二磷酸果糖可逆转化为甘油醛 3-磷酸和磷酸二羟基丙酮。脊椎动物有 3 种醛缩酶同工酶，它们以电泳和催化特性而著称。差异表明醛缩酶 A、B 和 C 是不同的蛋白质，是相关“管家”基因家族的产物，这些基因表现出不同同工酶的发育调节表达。发育中的胚胎会产生醛缩酶 A，这种酶在成体肌肉中的含量甚至更高，可高达细胞总蛋白的 5%。在成人肝脏、肾脏和肠道中，醛缩酶 A 的表达受到抑制，而醛缩酶 B 产生。在大脑和其他神经组织中，醛缩酶 A 和 C 的表达大致相等。醛缩酶 A 和 C 之间存在高度同源性。ALDOB 的缺陷会导致遗传性果糖不耐受。[RefSeq 提供，2008 年 12 月]

Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a tetrameric glycolytic Enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Vertebrates have 3 aldolase isozymes which are distinguished by their electrophoretic and catalytic properties. Differences indicate that aldolases A, B, and C are distinct proteins, the products of a family of related 'housekeeping' genes exhibiting developmentally regulated expression of the different isozymes. The developing embryo produces aldolase A, which is produced in even greater amounts in adult muscle where it can be as much as 5% of total cellular protein. In adult liver, kidney and intestine, aldolase A expression is repressed and aldolase B is produced. In brain and Other nervous tissue, aldolase A and C are expressed about equally. There is a high degree of homology between aldolase A and C. Defects in ALDOB cause hereditary fructose intolerance. [provided by RefSeq, Dec 2008]

ALDOB 基因产物(1)

mRNA	Protein	Name
NM_000035.4	NP_000026.2	fructose-bisphosphate aldolase B

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables ATPase binding	IDA IDA: 通过直接分析推断	17576770	GOA
enables cytoskeletal protein binding	IDA IDA: 通过直接分析推断	9244396	GOA
enables fructose binding	IMP IMP: 通过突变表型推断	10625657	GOA
enables fructose-1-phosphate aldolase activity	IDA IDA: 通过直接分析推断	2649152	GOA
enables fructose-bisphosphate aldolase activity	IDA IDA: 通过直接分析推断	9244396	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	10625657	GOA
enables molecular adaptor activity	IDA IDA: 通过直接分析推断	35122041	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	18000879	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in NADH oxidation	IDA IDA: 通过直接分析推断	17576770	GOA
involved in fructose 1,6-bisphosphate metabolic process	IDA IDA: 通过直接分析推断	9244396	GOA
involved in fructose metabolic process	IMP IMP: 通过突变表型推断	3383242	GOA
involved in glycolytic process	IDA IDA: 通过直接分析推断	10625657	GOA
involved in negative regulation of pentose-phosphate shunt	IMP IMP: 通过突变表型推断	35122041	GOA
involved in positive regulation of ATP-dependent activity	IGI IGI: 通过遗传相互作用推断	17576770	GOA
involved in vacuolar proton-transporting V-type ATPase complex assembly	IGI IGI: 通过遗传相互作用推断	17576770	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in centriolar satellite	IDA IDA: 通过直接分析推断	18000879	GOA
located in cytosol	IDA IDA: 通过直接分析推断	35122041	GOA
located in microtubule organizing center	IDA IDA: 通过直接分析推断	18000879	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

ALDOB 蛋白结构

Glycolytic

0
100
200
300
364 a.a.

蛋白主名

其他名称

fructose-bisphosphate aldolase B

aldolase 2

ALDOB 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	ALDOB	P05062	BBS1	Homo sapiens	Q8NFJ9	CoIP	18000879
种属内	ALDOB	P05062	BBS4	Homo sapiens	Q96RK4	Y2H	18000879
种属内	ALDOB	P05062	BBS4	Homo sapiens	Q96RK4	Confocal	18000879
种属内	ALDOB	P05062	BBS4	Homo sapiens	Q96RK4	CoIP	18000879
种属内	ALDOB	P05062	BBS7	Homo sapiens	Q8IWZ6	Confocal	18000879
种属内	ALDOB	P05062	BBS7	Homo sapiens	Q8IWZ6	CoIP	18000879
种属内	ALDOB	P05062	ALDOA	Homo sapiens	P04075	Anti Tag CoIP	33961781
种属内	ALDOB	P05062	ALDOA	Homo sapiens	P04075	Y2H	21988832
种属内	ALDOB	P05062	BBS2	Homo sapiens	Q9BXC9	CoIP	18000879
种属内	ALDOB	P05062	BBS2	Homo sapiens	Q9BXC9	Confocal	18000879
种属内	ALDOB	P05062	BBS2	Homo sapiens	Q9BXC9	Y2H	18000879

种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 ALDOB 蛋白

目录号	产品名	蛋白编号	纯度
HY-P74419	Aldolase B Protein, Human (GST)	P05062 (A2-Y364)	≥95%

关联疾病

疾病名称

别名

Fructose Intolerance, Hereditary

Hereditary Fructose Intolerance	Fructose Intolerance
Fructose-1-Phosphate Aldolase Deficiency	Fructose-1,6-Bisphosphate Aldolase B Deficiency
Aldolase B Deficiency	Fructosemia
Aldob Deficiency	Hereditary Fructose Intolerance Syndrome
HFI	Fructosaemia
Hereditary Fructose-1-Phosphate Aldolase Deficiency	Fructose Aldolase B Deficiency
Fructose-1,6-Biphosphate Aldolase Deficiency	Hereditary Fructosemia
Fructosemia, Hereditary	Hereditary Fructosaemia
Fructose-Biphosphate Aldolase B Deficiency	Fructose Intolerance Of Newborn
Aldb - [Aldolase B] Deficiency	Deficiency Of Fructose-Bisphosphate Aldolase

Fructosuria, Essential

Essential Fructosuria	Ketohexokinase Deficiency
Fructosuria	Hepatic Fructokinase Deficiency
Fructokinase Deficiency	FRUCT
Deficiency Of Fructokinase

Hypoglycemia

Hypoglycaemia	Low Blood Sugar
Hypoglycaemia Nos	Spontaneous Hypoglycaemia
Nondiabetic Hypoglycaemia	Hypoglycaemic Disorder Nos
Hypoglycaemic Syndrome

Hepatocellular Carcinoma

Liver Cancer	Primary Liver Cancer
HCC	Hepatoma
Malignant Neoplasm Of Liver	Liver Neoplasms
Cancer, Hepatocellular	Liver Cell Carcinoma
Lcc	Hepatoblastoma, Somatic
Hepatic Cancer	Primary Malignant Neoplasm Of Liver
Rare Tumor Of Liver And Intrahepatic Biliary Tract	Hepatocellular Carcinoma, Somatic
Hepatocellular Carcinoma, Childhood Type, Somatic	Hepatocellular Cancer, Somatic
Ca Liver - Primary	Hepatic Neoplasm
Malignant Hepato-Biliary Neoplasm	Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary
Malignant Neoplasm Of Liver, Primary	Malignant Tumor Of Liver
Neoplasm Of Liver	Non-Resectable Primary Hepatic Malignant Neoplasm
Resectable Malignant Neoplasm Of Liver	Resectable Malignant Neoplasm Of The Liver
Primary Liver Carcinoma	Primary Malignant Liver Neoplasm
Primary Cancer Of Liver	Primary Tumor Of The Liver
Rare Tumor Of Liver And Ibt	Hepatocellular Cancer
Neoplasm Of The Liver	Carcinoma, Hepatocellular
Hepatomas	Liver Neoplasm
Liver Carcinoma	Liver And Intrahepatic Biliary Tract Carcinoma
Malignant Hepatobiliary Neoplasm	Adult Primary Hepatocellular Carcinoma
Hepatoblastoma	Carcinoma Of Liver
Malignant Liver Tumour	Malignant Hepatic Tumour

Bardet-Biedl Syndrome

Bbs	Biedl-Bardet Syndrome

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS00584	ALDOB Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	ALDOB	VGNC	VGNC:69791
Felis catus	ALDOB	VGNC	VGNC:59740
Bos taurus	ALDOB	VGNC	VGNC:25822
Canis familiaris	ALDOB	VGNC	VGNC:37792
Rattus norvegicus	ALDOB	RGD	RGD:2090
Mus musculus	ALDOB	MGD	MGI:87995
Others	ALDOB	NCBI

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