ALDOA - aldolase, fructose-bisphosphate A Gene

中文名称：醛缩酶，果糖二磷酸 A

种属: Homo sapiens

同用名: ALDA; GSD12; HEL-S-87p

基因 ID: 226 | 基因类型: protein coding

关于 ALDOA

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:30,064,279-30,070,420 (from NCBI)

This gene has 19 transcripts (splice variants), 266 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 290.3), esophagus (RPKM 221.3) and 25 other tissues.

功能概要

该基因编码 I 类果糖二磷酸醛缩酶蛋白家族的成员。编码的蛋白质是一种糖酵解酶，可催化果糖-1,6-二磷酸可逆转化为甘油醛 3-磷酸和磷酸二羟基丙酮。由三种不同基因编码的三种醛缩酶同工酶 (A、B 和 C) 在发育过程中差异表达。该基因的突变与糖原贮积病 XII 有关，这是一种与溶血性贫血相关的常染色体隐性遗传病。该基因的破坏也在多种癌症的进展中发挥作用。已在 3 号和 10 号染色体上鉴定出相关的假基因。[RefSeq 提供，2017 年 9 月]

This gene encodes a member of the class I fructose-bisphosphate aldolase protein family. The encoded protein is a glycolytic Enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Three aldolase isozymes (A, B, and C), encoded by three different genes, are differentially expressed during development. Mutations in this gene have been associated with Glycogen Storage Disease XII, an autosomal recessive disorder associated with hemolytic anemia. Disruption of this gene also plays a role in the progression of multiple types of cancers. Related pseudogenes have been identified on chromosomes 3 and 10. [provided by RefSeq, Sep 2017]

ALDOA 基因产物(4)

mRNA	Protein	Name
NM_001127617.2	NP_001121089.1	fructose-bisphosphate aldolase A isoform 1
NM_001243177.4	NP_001230106.1	fructose-bisphosphate aldolase A isoform 2
NM_184041.5	NP_908930.1	fructose-bisphosphate aldolase A isoform 1
NM_184043.2	NP_908932.1	fructose-bisphosphate aldolase A isoform 1

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 cytoskeletal protein binding	IDA IDA: 通过直接分析推断	9244396	GOA
enables fructose binding	IDA IDA: 通过直接分析推断	10048322	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	10944123	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	20849852	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in ATP biosynthetic process	IMP IMP: 通过突变表型推断	14615364	GOA
involved in binding of sperm to zona pellucida	IMP IMP: 通过突变表型推断	23355646	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	14615364	GOA
involved in glycolytic process	IMP IMP: 通过突变表型推断	14615364	GOA
involved in muscle cell cellular homeostasis	IMP IMP: 通过突变表型推断	14615364	GOA
involved in regulation of cell shape	IDA IDA: 通过直接分析推断	9244396	GOA
involved in striated muscle contraction	IMP IMP: 通过突变表型推断	14615364	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in actin cytoskeleton	IDA IDA: 通过直接分析推断	9244396	GOA
located in extracellular exosome	IDA IDA: 通过直接分析推断	17641064	GOA
located in sperm head	IDA IDA: 通过直接分析推断	23355646	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

ALDOA 蛋白结构

Glycolytic

0
100
200
300
364 a.a.

蛋白主名

其他名称

fructose-bisphosphate aldolase A

aldolase A, fructose-bisphosphate

ALDOA 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	ALDOA	P04075	ALDOB	Homo sapiens	P05062	Anti Tag CoIP	33961781
种属内	ALDOA	P04075	CARM1	Homo sapiens	Q86X55	Anti Tag CoIP	33961781
种属内	ALDOA	P04075	ALDOC	Homo sapiens	P09972	Y2H Array	31515488
种属内	ALDOA	P04075	ALDOC	Homo sapiens	P09972	Anti Tag CoIP	26496610
种属内	ALDOA	P04075	ALDOC	Homo sapiens	P09972	Anti Tag CoIP	33961781
种属内	ALDOA	P04075	PCNA	Homo sapiens	P12004	Far-WB	20849852
种属内	ALDOA	P04075	ALDOA	Homo sapiens	P04075	Pull Down	10944123
种属内	ALDOA	P04075	ALDOA	Homo sapiens	P04075	Y2H	21988832

种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 ALDOA 蛋白

目录号	产品名	蛋白编号	纯度
HY-P7877	Fructose-bisphosphate aldolase A/ALDOA Protein, Human (His, solution)	P04075 (P2-Y364)	≥95%
HY-P700265	Fructose-bisphosphate aldolase A/ALDOA Protein, Human (His)	P04075 (P2-Y364)	≥95%

关联疾病

疾病名称

别名

Glycogen Storage Disease Xii

Aldolase A Deficiency	Red Cell Aldolase Deficiency
GSD12	Aldoa Deficiency
Gsd Xii	Glycogen Storage Disease Type 12
Glycogen Storage Disease 12	Aldolase Deficiency, Red Cell
Aldolase Deficiency Red Cell	Glycogen Storage Disease Due To Aldolase A Deficiency
Gsd Due To Aldolase A Deficiency	Gsd Type 12
Gsd Type Xii	Glycogen Storage Disease Type Xii
Glycogenosis Due To Aldolase A Deficiency	Glycogenosis Type 12
Glycogenosis Type Xii	Storage Disease, Glycogen, Type Xii

Hemolytic Anemia

Anemia, Hemolytic	Anemia Hemolytic
Anaemia Due To Other Disorders Of Glutathione Metabolism	Chronic Non Spherocytic Anaemia
G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia	Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency
Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia	Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia
Favism Anaemia	Haemolytic Anaemia Due Tog6pd Deficiency
Favism	Pentose Phosphate Pathway Disorder Anaemia
Anaemia Due To Pentose Phosphate Pathway Defect

Glycogen Storage Disease

Glycogenosis	Glycogenoses
Gsd	Storage Disease, Glycogen
Gsd - [Glycogen Storage Disease]	Glycogen Thesaurismosis
Diffuse Glycogenosis	Generalised Glycogen Storage Disease
Generalised Glycogenosis	Generalised Glycogen Storage Disease Of Infants
Glycogen Synthase Deficiency

Myopathy

Muscular Diseases

Myopathies

Lung Cancer

Lung Carcinoma	Non-Small Cell Lung Carcinoma
Lung Cancer, Susceptibility To	Lung Cancer, Protection Against
Adenocarcinoma Of Lung, Somatic	Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In
Nonsmall Cell Lung Cancer	Lung Neoplasm
Carcinoma Of Lung	Lung Non-Small Cell Carcinoma
Non-Small Cell Lung Cancer	Nsclc
Lung Neoplasms	Malignant Neoplasm Of Lung
Alveolar Cell Carcinoma	Nonsmall Cell Lung Cancer, Somatic
Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In	Nonsmall Cell Lung Cancer, Susceptibility To
Lung Cancer, Somatic	Lung Cancer, Resistance To
Cancer Of Lung	Cancer Of Bronchus
Cancer Of The Lung	Lung Malignancies
Lung Malignant Tumors	Malignant Lung Tumor
Malignant Tumor Of Lung	Pulmonary Cancer
Pulmonary Carcinoma	Pulmonary Neoplasms
Respiratory Carcinoma	LNCR
Adenocarcinoma Of Lung	Neoplasm Of Lung
Cancer Lung	Carcinoma Non-Small Cell Lung
Carcinoma, Non-Small-Cell Lung	Lung Cancers
Lung Carcinomas	Cancer, Lung
Cancer, Lung, Non-Small Cell	Primary Malignant Neoplasm Of Lung
Bronchioloalveolar Adenocarcinoma

Urinary System Disease

Abnormality Of The Urinary System	Non-Neoplastic Urinary Tract Disease
Urinary Tract Disease	Urinary Tract Diseases
Urinary Tract Anomaly	Urologic Diseases
Non-Neoplastic Urinary System Disorder	Congenital Malformation Of The Urinary System

Renal Cell Carcinoma, Nonpapillary

Renal Cell Carcinoma	RCC
Nonpapillary Renal Cell Carcinoma	Clear Cell Renal Cell Carcinoma
Hypernephroma	Adenocarcinoma Of Kidney
Renal Carcinoma, Chromophobe, Somatic	Clear Cell Carcinoma Of Kidney
Clear-Cell Metastatic Renal Cell Carcinoma	Clear Cell Renal Carcinoma
Renal Cell Carcinoma, Somatic	Conventional Renal Cell Carcinoma
Conventional Renal Cell Carcinoma	Renal Clear Cell Carcinoma
Ccrcc	Hereditary Clear Cell Renal Cell Carcinoma
Carcinoma, Renal Cell	Renal Cell Carcinoma, Clear Cell, Somatic
Renal Cell Carcinoma, Clear Cell	Clear Cell Kidney Carcinoma
Clear Cell Rcc	Cystic-Multilocular Variant
Clear Cell Renal Cell Adenocarcinoma	Hereditary Clear Cell Renal Cell Adenocarcinoma
Common Renal Cell Carcinoma	Crcc
Renal Cell Carcinoma Non-Papillary	Carcinoma Renal Cell
Renal Cell Cancer	Carcinoma, Renal Cell, Nonpapillary

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-RS00583	ALDOA Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	ALDOA	VGNC	VGNC:107737
Macaca mulatta	ALDOA	VGNC	VGNC:103785
Bos taurus	ALDOA	VGNC	VGNC:25821
Rattus norvegicus	ALDOA	RGD	RGD:2089
Mus musculus	ALDOA	MGD	MGI:87994
Others	ALDOA	NCBI

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

ALDOA - aldolase, fructose-bisphosphate A Gene

关于 ALDOA

功能概要

ALDOA 基因产物(4)

ALDOA 蛋白结构

ALDOA 蛋白互作信息

重组 ALDOA 蛋白

关联疾病

直系同源

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ALDOA - aldolase, fructose-bisphosphate A Gene

关于 ALDOA

功能概要

ALDOA 基因产物(4)

ALDOA 蛋白结构

ALDOA 蛋白互作信息

重组 ALDOA 蛋白

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z