Aliases for ALDOA Gene
Aliases for ALDOA Gene
External Ids for ALDOA Gene
- HGNC: 414
- Entrez Gene: 226
- Ensembl: ENSG00000149925
- OMIM: 103850
- UniProtKB: P04075
Previous GeneCards Identifiers for ALDOA Gene
- GC16M029079
- GC16P030386
- GC16P030062
- GC16P030102
- GC16P029971
- GC16P027726
Summaries for ALDOA Gene
-
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]
GeneCards Summary for ALDOA Gene
ALDOA (Aldolase, Fructose-Bisphosphate A) is a Protein Coding gene. Diseases associated with ALDOA include Glycogen Storage Disease Xii and Melanoma-Associated Retinopathy. Among its related pathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Metabolism. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is ENSG00000285043.
UniProtKB/Swiss-Prot for ALDOA Gene
-
Plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding protein (By similarity).
Additional gene information for ALDOA Gene
- Monarch Initiative
- Search for ALDOA at DataMed
- Search for ALDOA at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALDOA Gene
Genomics for ALDOA Gene
GeneHancer (GH) Regulatory Elements for ALDOA Gene
Promoters and enhancers for ALDOA Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around ALDOA on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the ALDOA gene promoter:
-
- AP-1
- NF-1
- NF-1/L
Regulatory Element Products
Genomic Locations for ALDOA Gene
Genomic Locations for ALDOA Gene
- chr16:30,053,090-30,070,457
- (GRCh38/hg38)
- Size:
- 17,368 bases
- Orientation:
- Plus strand
- chr16:30,064,411-30,081,778
- (GRCh37/hg19)
- Size:
- 17,368 bases
- Orientation:
- Plus strand
Genomic View for ALDOA Gene
Genes around ALDOA on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16p11.2 by Entrez Gene
- 16p11.2 by HGNC
- 16p11.2 by Ensembl
ALDOA Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ALDOA Gene
Proteins for ALDOA Gene
-
Protein details for ALDOA Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P04075-ALDOA_HUMAN
- Recommended name:
- Fructose-bisphosphate aldolase A
- Protein Accession:
- P04075
- B4DXI7
- Q6FH76
- Q6FI10
- Q96B15
- Q9BWD9
- Q9UCN2
- B4DXI7
- Q6FH76
- Q6FI10
- Q96B15
- Q9BWD9
- Q9UCN2
Protein attributes for ALDOA Gene
- Size:
- 364 amino acids
- Molecular mass:
- 39420 Da
- Quaternary structure:
-
- Homotetramer. Interacts with SNX9 and WAS (By similarity). Interacts with FBP2; the interaction blocks FBP2 inhibition by physiological concentrations of AMP and reduces inhibition by Ca(2+).
- Homotetramer. Interacts with SNX9 and WAS (By similarity). Interacts with FBP2; the interaction blocks FBP2 inhibition by physiological concentrations of AMP and reduces inhibition by Ca(2+).
- Miscellaneous:
-
- In vertebrates, three forms of this ubiquitous glycolytic enzyme are found, aldolase A in muscle, aldolase B in liver and aldolase C in brain.
- In vertebrates, three forms of this ubiquitous glycolytic enzyme are found, aldolase A in muscle, aldolase B in liver and aldolase C in brain.
Three dimensional structures from OCA and Proteopedia for ALDOA Gene
Protein Expression for ALDOA Gene
Post-translational modifications for ALDOA Gene
Other Protein References for ALDOA Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for ALDOA
- Novus Biologicals Antibodies for ALDOA
- Invitrogen Antibodies for ALDOA
- GeneTex ALDOA Antibody for ALDOA
-
Santa Cruz Biotechnology (SCBT) Antibodies for ALDOA
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for ALDOA
- Origene Custom Protein Services for ALDOA
- ProSpec Recombinant Proteins for ALDOA
- Search GeneTex for Proteins for ALDOA
-
ProSci Proteins for ALDOA
No data available for DME Specific Peptides for ALDOA Gene
Domains & Families for ALDOA Gene
Gene Families for ALDOA Gene
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Enzymes
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
- Predicted secreted proteins
Protein Domains for ALDOA Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for ALDOA Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P04075- Family:
-
- Belongs to the class I fructose-bisphosphate aldolase family.
Function for ALDOA Gene
Molecular function for ALDOA Gene
- UniProtKB/Swiss-Prot Function:
- Plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding protein (By similarity).
- UniProtKB/Swiss-Prot CatalyticActivity:
- D-fructose 1,6-bisphosphate = glycerone phosphate + D-glyceraldehyde 3-phosphate.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=52 uM for fructose 1,6-bisphosphate (at 30 degrees Celsius) {ECO:0000269 PubMed:14766013}; Temperature dependence: Thermal denaturation midpoint (Tm) is 54.4 degrees Celsius. {ECO:0000269 PubMed:14766013};
- GENATLAS Biochemistry:
- aldolase A,fructose-bisphosphate,expressed in muscle (M type),and in most other tissues,(N and H types),overexpressed in most lung cancers,homotetramer,fructose metabolism,energy pathway,more affinity for F-1-P than for F-1,6-P
Enzyme Numbers (IUBMB) for ALDOA Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003723 | RNA binding | HDA | 22681889 |
| GO:0003779 | actin binding | TAS | 1008835 |
| GO:0003824 | catalytic activity | IEA | -- |
| GO:0004332 | fructose-bisphosphate aldolase activity | IEA,IDA | 9244396 |
| GO:0005515 | protein binding | IPI | 20849852 |
Phenotypes for ALDOA Gene
- GenomeRNAi human phenotypes for ALDOA:
-
- Increased HPV18 LCR reporter activity
- Decreased DCP1a protein expression and assembly in processing bodies after arsenite stimulation
- Dynamic nuclei (hole, folded or small irregular)
- Increased shRNA abundance (Z-score > 2)
- Reduced mammosphere formation
- Decreased viability in esophageal squamous lineage
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for ALDOA
-
CRISPR Products
-
OriGene CRISPR knockouts for ALDOA
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ALDOA
- genomics-online: gRNA clones - Search results for 216 available ALDOA gene related products
- Overview of 216 available ALDOA gene related products
-
Recommended
- Applied Biological Materials CRISPR for ALDOA
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ALDOA
miRNA for ALDOA Gene
- miRTarBase miRNAs that target ALDOA
-
- hsa-mir-122-5p (MIRT003085)
- hsa-mir-1301-3p (MIRT036065)
- hsa-mir-615-3p (MIRT040003)
- hsa-mir-92b-3p (MIRT040648)
- hsa-mir-196b-5p (MIRT042671)
- hsa-mir-324-3p (MIRT042956)
- hsa-mir-324-5p (MIRT043086)
- hsa-mir-23b-3p (MIRT046363)
- hsa-mir-1260b (MIRT052739)
- hsa-mir-5096 (MIRT495466)
- hsa-mir-197-3p (MIRT495467)
- hsa-mir-193b-5p (MIRT495468)
- hsa-mir-6069 (MIRT495469)
- hsa-mir-6131 (MIRT495470)
- hsa-mir-3663-5p (MIRT495471)
- hsa-mir-645 (MIRT495472)
- hsa-mir-4787-5p (MIRT495473)
- hsa-mir-4478 (MIRT495474)
- hsa-mir-4419b (MIRT495475)
- hsa-mir-3929 (MIRT495476)
- hsa-mir-4468 (MIRT525301)
- hsa-mir-6793-3p (MIRT525302)
- hsa-mir-935 (MIRT525303)
- hsa-mir-5009-5p (MIRT573424)
- hsa-mir-8058 (MIRT573425)
- hsa-mir-27b-3p (MIRT573426)
- hsa-mir-27a-3p (MIRT573427)
- hsa-mir-513a-5p (MIRT573428)
- hsa-mir-3134 (MIRT573429)
- hsa-mir-8082 (MIRT573430)
- hsa-mir-4534 (MIRT573431)
- hsa-mir-1179 (MIRT573432)
- hsa-mir-374c-3p (MIRT573433)
- hsa-mir-640 (MIRT629174)
- hsa-mir-4279 (MIRT629175)
- hsa-mir-378a-5p (MIRT629176)
- hsa-mir-6821-3p (MIRT629177)
- hsa-mir-6790-3p (MIRT629178)
- hsa-mir-6845-3p (MIRT629179)
- hsa-mir-6777-3p (MIRT629180)
- hsa-mir-3653-5p (MIRT629181)
- hsa-mir-3934-5p (MIRT629182)
- hsa-mir-764 (MIRT629183)
- hsa-mir-4639-3p (MIRT629184)
- hsa-mir-125a-3p (MIRT629185)
- hsa-mir-5682 (MIRT639089)
- hsa-mir-585-5p (MIRT639090)
- hsa-mir-24-3p (MIRT639091)
- hsa-mir-4284 (MIRT639092)
- hsa-mir-3622b-5p (MIRT639093)
- hsa-mir-4443 (MIRT640251)
- hsa-mir-665 (MIRT640252)
- hsa-mir-7977 (MIRT640253)
- hsa-mir-4693-5p (MIRT640254)
- hsa-mir-7847-3p (MIRT640255)
- hsa-mir-650 (MIRT640256)
- hsa-mir-3612 (MIRT640257)
- hsa-mir-6720-3p (MIRT640258)
- hsa-mir-7114-5p (MIRT640259)
- hsa-mir-668-5p (MIRT640260)
- hsa-mir-5690 (MIRT640261)
- hsa-mir-892a (MIRT640262)
- hsa-mir-4318 (MIRT640263)
- hsa-mir-4524a-3p (MIRT642481)
- hsa-mir-7110-3p (MIRT642482)
- hsa-mir-3615 (MIRT642483)
- hsa-mir-1304-3p (MIRT642484)
- hsa-mir-6812-3p (MIRT642485)
- hsa-mir-5007-5p (MIRT642486)
- hsa-mir-4797-5p (MIRT642487)
- hsa-mir-6738-3p (MIRT642488)
- hsa-mir-544a (MIRT642489)
- hsa-mir-5001-3p (MIRT642490)
- hsa-mir-4727-5p (MIRT642491)
- hsa-mir-6794-3p (MIRT642492)
- hsa-mir-873-5p (MIRT642493)
- hsa-mir-493-3p (MIRT642494)
- hsa-mir-627-3p (MIRT642495)
- hsa-mir-3667-3p (MIRT642496)
- hsa-mir-6734-3p (MIRT642497)
- hsa-mir-6876-5p (MIRT642498)
- hsa-mir-483-3p (MIRT642499)
- hsa-mir-4476 (MIRT642500)
- hsa-mir-6165 (MIRT642501)
- hsa-mir-6869-5p (MIRT669555)
- hsa-mir-3157-5p (MIRT669556)
- hsa-mir-1976 (MIRT669557)
- hsa-mir-6747-3p (MIRT669558)
- hsa-mir-6727-3p (MIRT669559)
- hsa-mir-4722-3p (MIRT669560)
- hsa-mir-4691-3p (MIRT669561)
- hsa-mir-3622b-3p (MIRT669562)
- hsa-mir-3622a-3p (MIRT669563)
- hsa-mir-5571-5p (MIRT669564)
- hsa-mir-6848-3p (MIRT676143)
- hsa-mir-6843-3p (MIRT676144)
- hsa-mir-433-3p (MIRT676145)
- hsa-mir-150-5p (MIRT676146)
- hsa-mir-186-3p (MIRT676147)
- hsa-mir-498 (MIRT679682)
- hsa-mir-4772-3p (MIRT679683)
- hsa-mir-4726-3p (MIRT679684)
- hsa-mir-6764-5p (MIRT679685)
- hsa-mir-1915-3p (MIRT679686)
- hsa-mir-6840-3p (MIRT679687)
- hsa-mir-4684-5p (MIRT708339)
- hsa-mir-103a-2-5p (MIRT708340)
- hsa-mir-942-5p (MIRT708341)
- hsa-mir-6728-3p (MIRT708342)
- hsa-mir-1251-5p (MIRT708343)
- hsa-mir-517-5p (MIRT708344)
- hsa-mir-554 (MIRT708345)
- hsa-mir-1225-3p (MIRT736093)
- hsa-mir-1233-5p (MIRT736223)
- hsa-mir-1273h-5p (MIRT736849)
- hsa-mir-129-1-3p (MIRT737106)
- hsa-mir-129-2-3p (MIRT737117)
- hsa-mir-149-3p (MIRT737695)
- hsa-mir-151a-5p (MIRT737837)
- hsa-mir-151b (MIRT737852)
- hsa-mir-200a-5p (MIRT738762)
- hsa-mir-200b-5p (MIRT738774)
- hsa-mir-30b-3p (MIRT739739)
- hsa-mir-335-5p (MIRT741344)
- hsa-mir-3689a-3p (MIRT742241)
- hsa-mir-3689b-3p (MIRT742311)
- hsa-mir-3689c (MIRT742381)
- hsa-mir-4481 (MIRT745095)
- hsa-mir-454-5p (MIRT746146)
- hsa-mir-4687-5p (MIRT746994)
- hsa-mir-4695-5p (MIRT747165)
- hsa-mir-4728-3p (MIRT747783)
- hsa-mir-4728-5p (MIRT747791)
- hsa-mir-4745-5p (MIRT748166)
- hsa-mir-505-5p (MIRT749575)
- hsa-mir-5193 (MIRT749959)
- hsa-mir-6087 (MIRT751896)
- hsa-mir-6515-3p (MIRT753274)
- hsa-mir-676-5p (MIRT755076)
- hsa-mir-6778-5p (MIRT755420)
- hsa-mir-6779-3p (MIRT755472)
- hsa-mir-6779-5p (MIRT755480)
- hsa-mir-6780a-5p (MIRT755556)
- hsa-mir-6785-5p (MIRT755786)
- hsa-mir-6791-3p (MIRT756030)
- hsa-mir-6799-5p (MIRT756281)
- hsa-mir-6805-5p (MIRT756465)
- hsa-mir-6829-3p (MIRT757084)
- hsa-mir-6881-3p (MIRT758344)
- hsa-mir-6883-5p (MIRT758371)
- hsa-mir-7106-5p (MIRT758830)
- hsa-mir-877-3p (MIRT760369)
- hsa-mir-1227-3p (MIRT761380)
- hsa-mir-1234-3p (MIRT761472)
- hsa-mir-1244 (MIRT761510)
- hsa-mir-1262 (MIRT761693)
- hsa-mir-1273g-3p (MIRT761906)
- hsa-mir-1281 (MIRT762132)
- hsa-mir-1470 (MIRT762735)
- hsa-mir-18a-3p (MIRT763226)
- hsa-mir-3145-5p (MIRT764995)
- hsa-mir-3925-3p (MIRT767677)
- hsa-mir-4252 (MIRT767970)
- hsa-mir-4290 (MIRT768398)
- hsa-mir-4485-5p (MIRT769605)
- hsa-mir-455-3p (MIRT770260)
- hsa-mir-4701-3p (MIRT771303)
- hsa-mir-4703-3p (MIRT771344)
- hsa-mir-4738-3p (MIRT771819)
- hsa-mir-508-5p (MIRT773118)
- hsa-mir-5089-5p (MIRT773235)
- hsa-mir-510-3p (MIRT773317)
- hsa-mir-542-3p (MIRT773953)
- hsa-mir-552-3p (MIRT774638)
- hsa-mir-619-5p (MIRT776047)
- hsa-mir-622 (MIRT776072)
- hsa-mir-6499-3p (MIRT776188)
- hsa-mir-6506-5p (MIRT776596)
- hsa-mir-6516-5p (MIRT777054)
- hsa-mir-653-5p (MIRT777281)
- hsa-mir-661 (MIRT777403)
- hsa-mir-6736-5p (MIRT778054)
- hsa-mir-6776-5p (MIRT778736)
- hsa-mir-6807-5p (MIRT779546)
- hsa-mir-6836-3p (MIRT780042)
- hsa-mir-6850-3p (MIRT780380)
- hsa-mir-6861-5p (MIRT780587)
- hsa-mir-6871-3p (MIRT780695)
- hsa-mir-6890-3p (MIRT781132)
- hsa-mir-7107-5p (MIRT781413)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ALDOA
- Browse OriGene Inhibitory RNA Products For ALDOA
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALDOA
- genomics-online: shRNA clones - Search results for 216 available ALDOA gene related products
- Overview of 216 available ALDOA gene related products
-
Recommended
Clone Products
-
OriGene ORF clones in human for ALDOA
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ALDOA
- VectorBuilder custom plasmid, inducible vectors for ALDOA
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ALDOA
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ALDOA
- genomics-online: cdna clones - Search results for 216 available ALDOA gene related products
- Overview of 216 available ALDOA gene related products
-
Recommended
- orf clones - Search results for 216 available ALDOA gene related products
- Overview of 216 available ALDOA gene related products
-
Recommended
- Applied Biological Materials Clones for ALDOA
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for ALDOA Gene
Localization for ALDOA Gene
Subcellular locations from UniProtKB/Swiss-Prot for ALDOA Gene
- Cytoplasm, myofibril, sarcomere, I band. Cytoplasm, myofibril, sarcomere, M line. Note=In skeletal muscle, accumulates around the M line and within the I band, colocalizing with FBP2 on both sides of the Z line in the absence of Ca(2+). {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| cytoskeleton | 5 |
| nucleus | 5 |
| cytosol | 5 |
| mitochondrion | 2 |
| lysosome | 1 |
- Cytosol (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005615 | extracellular space | HDA | 23580065 |
| GO:0005634 | nucleus | HDA | 21630459 |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | TAS,IDA | -- |
Pathways & Interactions for ALDOA Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Glucose metabolism |
.52
.46
|
.35
.01
|
| 2 | Response to elevated platelet cytosolic Ca2+ |
.44
|
|
| 3 | Innate Immune System |
.61
|
|
| 4 | Carbon metabolism | ||
| 5 | Metabolism |
.37
|
|
Pathways by source for ALDOA Gene
7 BioSystems pathways for ALDOA Gene
12 Reactome pathways for ALDOA Gene
7 KEGG pathways for ALDOA Gene
1 GeneGo (Thomson Reuters) pathway for ALDOA Gene
1 Cell Signaling Technology pathway for ALDOA Gene
UniProtKB/Swiss-Prot P04075-ALDOA_HUMAN
- Pathway: Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 4/4.
- Pathway: Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 4/4.
Interacting Proteins for ALDOA Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002576 | platelet degranulation | TAS | -- |
| GO:0006000 | fructose metabolic process | IMP | 14615364 |
| GO:0006094 | gluconeogenesis | TAS | -- |
| GO:0006096 | glycolytic process | IMP,IEA | 14615364 |
| GO:0006754 | ATP biosynthetic process | IMP | 14615364 |
No data available for SIGNOR curated interactions for ALDOA Gene
Drugs & Compounds for ALDOA Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Zinc | Approved, Investigational | Pharma | Target | 2430 | ||
| Dihydroartemisinin | Approved, Investigational | Pharma | Target, ligand | 100 | ||
| 1,6-DI-O-PHOSPHONO-D-MANNITOL | Experimental | Pharma | Target | 0 | ||
| 1,6-Fructose Diphosphate (Linear Form) | Experimental | Pharma | Target | 0 | ||
| N-(4-CHLOROPHENYL)-3-(PHOSPHONOOXY)NAPHTHALENE-2-CARBOXAMIDE | Experimental | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| fructose 1-phosphate |
|
15978-08-2 | ||||
| glyceraldehyde |
|
56-82-6 | ||||
| beta-D-Fructose 1,6-bisphosphate |
|
34693-15-7 |
|
|||
| D-Erythrose 4-phosphate |
|
585-18-2 |
|
|||
| Sedoheptulose 1,7-bisphosphate |
|
|
Transcripts for ALDOA Gene
mRNA/cDNA for ALDOA Gene
- (12) REFSEQ mRNAs :
- (20) Additional mRNA sequences :
- (4189) Selected AceView cDNA sequences:
- (21) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000395240 1447 bps (uc059szh.1)
- ENST00000412304 1603 bps (uc002dwa.5)
- ENST00000562168 666 bps (uc059sza.1)
- ENST00000562302 502 bps (uc059syz.1)
- ENST00000562679 906 bps (uc059szk.1)
Unigene Clusters for ALDOA Gene
CRISPR Products
-
OriGene CRISPR knockouts for ALDOA
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ALDOA
- genomics-online: gRNA clones - Search results for 216 available ALDOA gene related products
- Overview of 216 available ALDOA gene related products
-
Recommended
- Applied Biological Materials CRISPR for ALDOA
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ALDOA
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ALDOA
- Browse OriGene Inhibitory RNA Products For ALDOA
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALDOA
- genomics-online: shRNA clones - Search results for 216 available ALDOA gene related products
- Overview of 216 available ALDOA gene related products
-
Recommended
Clone Products
-
OriGene ORF clones in human for ALDOA
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ALDOA
- VectorBuilder custom plasmid, inducible vectors for ALDOA
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ALDOA
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ALDOA
- genomics-online: cdna clones - Search results for 216 available ALDOA gene related products
- Overview of 216 available ALDOA gene related products
-
Recommended
- orf clones - Search results for 216 available ALDOA gene related products
- Overview of 216 available ALDOA gene related products
-
Recommended
- Applied Biological Materials Clones for ALDOA
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | ^ | 9a | · | 9b | · | 9c | · | 9d | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
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| SP6: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
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| SP16: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP17: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP18: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP19: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP20: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP21: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP22: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP23: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP24: |
| ExUns: | 9e | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12a | · | 12b | · | 12c | ^ | 13 | ^ | 14a | · | 14b | · | 14c | ^ | 15a | · | 15b | · | 15c | ^ | 16 | ^ | 17a | · | 17b | ^ | 18a | · | 18b | ^ | 19a | · | 19b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP13: | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP14: | |||||||||||||||||||||||||||||||||||||||||||
| SP15: | - | ||||||||||||||||||||||||||||||||||||||||||
| SP16: | |||||||||||||||||||||||||||||||||||||||||||
| SP17: | |||||||||||||||||||||||||||||||||||||||||||
| SP18: | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP19: | |||||||||||||||||||||||||||||||||||||||||||
| SP20: | |||||||||||||||||||||||||||||||||||||||||||
| SP21: | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP22: | |||||||||||||||||||||||||||||||||||||||||||
| SP23: | |||||||||||||||||||||||||||||||||||||||||||
| SP24: |
Expression for ALDOA Gene
mRNA differential expression in normal tissues according to GTEx for ALDOA Gene
This gene is overexpressed in Muscle - Skeletal (x10.0).
This gene is overexpressed in Tonsil (6.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ALDOA Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of ALDOA Gene:
ALDOASOURCE GeneReport for Unigene cluster for ALDOA Gene:
Hs.513490Evidence on tissue expression from TISSUES for ALDOA Gene
- Eye(5)
- Lung(5)
- Nervous system(5)
- Liver(4.9)
- Muscle(4.9)
- Blood(4.8)
- Skin(4.8)
- Intestine(4.7)
- Pancreas(4.5)
- Heart(4.4)
- Kidney(4.4)
- Stomach(3.8)
- Thyroid gland(3.4)
- Bone(2.8)
- Adrenal gland(2.5)
- Bone marrow(2.5)
- Gall bladder(2.5)
- Lymph node(2.4)
- Spleen(2.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ALDOA Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- skeletal muscle
- skeleton
Regions:
Head and neck:
- eye
- eyelid
- face
- forehead
- head
- mouth
- neck
- scalp
Abdomen:
- abdominal wall
- biliary tract
- gallbladder
- liver
- pancreas
- spleen
Pelvis:
- fallopian tube
- ovary
- penis
- prostate
- testicle
- uterus
- vagina
- vas deferens
- vulva
General:
- blood
- hair
- red blood cell
- skin
- spinal column
- white blood cell
Primer Products
-
OriGene qPCR primer pairs and template standards for ALDOA
-
OriGene qPCR primer pairs for ALDOA
- genomics-online: primer clones - Search results for 216 available ALDOA gene related products
- Overview of 216 available ALDOA gene related products
-
Recommended
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for ALDOA Gene
Orthologs for ALDOA Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ALDOA 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | -- 34 |
|
OneToMany | |
| ALDOA 33 |
|
||||
| -- 34 |
|
OneToMany | |||
| mouse (Mus musculus) |
Mammalia | Aldoart2 34 |
|
OneToMany | |
| Aldoa 16 34 33 |
|
||||
| Aldoart1 34 |
|
OneToMany | |||
| cow (Bos Taurus) |
Mammalia | ALDOA 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Aldoa 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ALDOA 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | ALDOA 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ALDOA 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | aldoa 33 |
|
||
| Str.6670 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC53030 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | aldoab 34 |
|
OneToMany | |
| aldoaa 34 33 |
|
OneToMany | |||
| -- 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.2063 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Ald 34 35 |
|
ManyToMany | |
| CG5432 34 35 |
|
ManyToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | T05D4.1 35 |
|
|
|
| aldo-1 34 |
|
ManyToMany | |||
| F01F1.12a 35 |
|
|
|||
| F01F1.12b 35 |
|
|
|||
| aldo-2 34 33 |
|
ManyToMany | |||
| rice (Oryza sativa) |
Liliopsida | Os08g0120600 33 |
|
||
| Os.46386 33 |
|
||||
| corn (Zea mays) |
Liliopsida | Zm.7177 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.11039 34 |
|
OneToMany |
- Species where no ortholog for ALDOA was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for ALDOA Gene
- ENSEMBL:
- Gene Tree for ALDOA (if available)
- TreeFam:
- Gene Tree for ALDOA (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ALDOA: view image
Paralogs for ALDOA Gene
(2) SIMAP similar genes for ALDOA Gene using alignment to 10 proteins:
- ALDOA_HUMAN
- H3BMQ8_HUMAN
- H3BPS8_HUMAN
- H3BQN4_HUMAN
- H3BR04_HUMAN
- H3BR68_HUMAN
- H3BU78_HUMAN
- H3BUH7_HUMAN
- H3BUK5_HUMAN
- J3KPS3_HUMAN
Pseudogenes.org Pseudogenes for ALDOA Gene
Variants for ALDOA Gene
| SNP ID | Clin | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1048708464 | uncertain-significance, HNSHA due to aldolase A deficiency | 30,069,622(+) | G/A | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
| rs121909533 | pathogenic, HNSHA due to aldolase A deficiency, Glycogen storage disease 12 (GSD12) [MIM:611881] | 30,068,824(+) | A/G | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
| rs121909534 | pathogenic, HNSHA due to aldolase A deficiency, Glycogen storage disease 12 (GSD12) [MIM:611881] | 30,069,384(+) | G/A | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
| rs138824667 | uncertain-significance, HNSHA due to aldolase A deficiency, not specified, Glycogen storage disease 12 (GSD12) [MIM:611881] | 30,070,156(+) | G/A/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
| rs142315181 | uncertain-significance, HNSHA due to aldolase A deficiency | 30,069,975(+) | C/T | coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv833187 | CNV | loss | 17160897 |
| nsv1160384 | CNV | duplication | 26073780 |
| esv3638380 | CNV | loss | 21293372 |
| esv2758642 | CNV | gain | 17122850 |
Residual Variation Intolerance Score:
25% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.37;
27.00% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ALDOA Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALDOA Gene
Disorders for ALDOA Gene
(10) MalaCards diseases for ALDOA Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| glycogen storage disease xii |
|
|
| melanoma-associated retinopathy |
|
|
| hemolytic anemia |
|
|
| pancreatic cystadenoma |
|
|
| glycogen storage disease |
|
|
Search ALDOA in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ALDOA_HUMAN- Glycogen storage disease 12 (GSD12) [MIM:611881]: A metabolic disorder associated with increased hepatic glycogen and hemolytic anemia. It may lead to myopathy with exercise intolerance and rhabdomyolysis. {ECO:0000269 PubMed:14615364, ECO:0000269 PubMed:14766013, ECO:0000269 PubMed:2229018, ECO:0000269 PubMed:2825199, ECO:0000269 PubMed:8598869}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genatlas disease for ALDOA Gene
hemolytic anemia
Additional Disease Information for ALDOA
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Publications for ALDOA Gene
- Hemolytic anemia and severe rhabdomyolysis caused by compound heterozygous mutations of the gene for erythrocyte/muscle isozyme of aldolase, ALDOA(Arg303X/Cys338Tyr). (PMID: 14615364) Yao DC … Neufeld EJ (Blood 2004) 3 4 22 44 58
- Evolutionary conserved N-terminal region of human muscle fructose 1,6-bisphosphatase regulates its activity and the interaction with aldolase. (PMID: 18214967) Gizak A … Rakus D (Proteins 2008) 3 4 22 58
- Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function. (PMID: 14766013) Esposito G … Salvatore F (The Biochemical journal 2004) 3 4 22 58
- Crystal structure of human muscle aldolase complexed with fructose 1,6-bisphosphate: mechanistic implications. (PMID: 10048322) Dalby A … Littlechild JA (Protein science : a publication of the Protein Society 1999) 3 4 22 58
- Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A. (PMID: 8598869) Kreuder J … Lampert F (The New England journal of medicine 1996) 3 4 22 58