ALDOA - aldolase, fructose-bisphosphate A Gene

Also Known as ALDA; GSD12; HEL-S-87p

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 226

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables cytoskeletal protein binding	IDA IDA: Inferred from direct assay	9244396	GOA
enables fructose binding	IDA IDA: Inferred from direct assay	10048322	GOA
enables fructose-bisphosphate aldolase activity	IDA IDA: Inferred from direct assay	9244396	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	10944123	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20849852	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in ATP biosynthetic process	IMP IMP: Inferred from mutant phenotype	14615364	GOA
involved in binding of sperm to zona pellucida	IMP IMP: Inferred from mutant phenotype	23355646	GOA
involved in fructose 1,6-bisphosphate metabolic process	IDA IDA: Inferred from direct assay	9244396	GOA
involved in fructose metabolic process	IMP IMP: Inferred from mutant phenotype	14615364	GOA
involved in glycolytic process	IMP IMP: Inferred from mutant phenotype	14615364	GOA
involved in muscle cell cellular homeostasis	IMP IMP: Inferred from mutant phenotype	14615364	GOA
involved in regulation of cell shape	IDA IDA: Inferred from direct assay	9244396	GOA
involved in striated muscle contraction	IMP IMP: Inferred from mutant phenotype	14615364	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in actin cytoskeleton	IDA IDA: Inferred from direct assay	9244396	GOA
located in extracellular exosome	IDA IDA: Inferred from direct assay	17641064	GOA
located in sperm head	IDA IDA: Inferred from direct assay	23355646	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

ALDOA Protein Structure

Glycolytic

0
100
200
300
364 a.a.

Protein Preferred Names	Protein Names
fructose-bisphosphate aldolase A	aldolase A, fructose-bisphosphate

ALDOA Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ALDOA	P04075	ALDOB	Homo sapiens	P05062	Anti Tag CoIP	33961781
Intra	ALDOA	P04075	CARM1	Homo sapiens	Q86X55	Anti Tag CoIP	33961781
Intra	ALDOA	P04075	ALDOC	Homo sapiens	P09972	Y2H Array	31515488
Intra	ALDOA	P04075	ALDOC	Homo sapiens	P09972	Anti Tag CoIP	26496610
Intra	ALDOA	P04075	ALDOC	Homo sapiens	P09972	Anti Tag CoIP	33961781
Intra	ALDOA	P04075	PCNA	Homo sapiens	P12004	Far-WB	20849852
Intra	ALDOA	P04075	ALDOA	Homo sapiens	P04075	Pull Down	10944123
Intra	ALDOA	P04075	ALDOA	Homo sapiens	P04075	Y2H	21988832

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ALDOA Proteins

Cat. No.	상품명	Accession	Purity
HY-P7877	Fructose-bisphosphate aldolase A/ALDOA Protein, Human (His, solution)	P04075 (P2-Y364)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P700265	Fructose-bisphosphate aldolase A/ALDOA Protein, Human (His)	P04075 (P2-Y364)	≥ 90%, as determined by reducing SDS-PAGE.

ALDOA Antibodies

Cat. No.	상품명	신청	Reactivity
HY-P82292	ALDOA Antibody (YA2037)	WB, IHC-F, IHC-P, ICC/IF	Human, Mouse, Rat
HY-P82292A	ALDOA Antibody (YA2037)(PBS only)	WB, IHC-F, IHC-P, ICC/IF	Human, Mouse, Rat
HY-P83934	ALDOA Antibody (YA3631)	WB, IHC-P, FC, ELISA	Human, Mouse
HY-P83934A	ALDOA Antibody (YA3631)(PBS only)	WB, IHC-P, FC, ELISA	Human, Mouse

Related Diseases

Diseases	Alias
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

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.	상품명	효과	Purity	Rare Diseases
HY-181267	ALDOA-IN-1		98.46%	Unkown
HY-RS23520	Aldoa Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS00583	ALDOA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17076	Aldoa Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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