Human Gene ALDOA (ENST00000642816.3_6) from GENCODE V47lift37
  Description: aldolase, fructose-bisphosphate A, transcript variant 6 (from RefSeq NM_001243177.4)
Gencode Transcript: ENST00000642816.3_6
Gencode Gene: ENSG00000149925.22_18
Transcript (Including UTRs)
   Position: hg19 chr16:30,077,081-30,081,735 Size: 4,655 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chr16:30,078,219-30,081,533 Size: 3,315 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:30,077,081-30,081,735)mRNA (may differ from genome)Protein (418 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ALDOA_HUMAN
DESCRIPTION: RecName: Full=Fructose-bisphosphate aldolase A; EC=4.1.2.13; AltName: Full=Lung cancer antigen NY-LU-1; AltName: Full=Muscle-type aldolase;
FUNCTION: Plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding protein (By similarity).
CATALYTIC ACTIVITY: D-fructose 1,6-bisphosphate = glycerone phosphate + D-glyceraldehyde 3-phosphate.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=52 uM for fructose 1,6-bisphosphate (at 30 degrees Celsius); Temperature dependence: Thermal denaturation midpoint (Tm) is 54.4 degrees Celsius;
PATHWAY: Carbohydrate degradation; glycolysis; D-glyceraldehyde 3- phosphate and glycerone phosphate from D-glucose: step 4/4.
SUBUNIT: Homotetramer. Interacts with SNX9 and WAS (By similarity).
DISEASE: Defects in ALDOA are the cause of glycogen storage disease type 12 (GSD12) [MIM:611881]; also known as red cell aldolase deficiency. A metabolic disorder associated with increased hepatic glycogen and hemolytic anemia. It may lead to myopathy with exercise intolerance and rhabdomyolysis.
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.
SIMILARITY: Belongs to the class I fructose-bisphosphate aldolase family.
SEQUENCE CAUTION: Sequence=BAG63399.1; Type=Erroneous initiation;
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALDOA";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ALDOA
Diseases sorted by gene-association score: glycogen storage disease xii* (1650), melanoma-associated retinopathy (17), hemolytic anemia (15), pancreatic cystadenoma (11), prostate carcinoma in situ (8), fish allergy (8), myopathy (5), lung cancer (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -62.60181-0.346 Picture PostScript Text
3' UTR -63.30202-0.313 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000741 - Aldolase_I
IPR013785 - Aldolase_TIM

Pfam Domains:
PF00274 - Fructose-bisphosphate aldolase class-I

SCOP Domains:
51569 - Aldolase

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1ALD - X-ray MuPIT 2ALD - X-ray 4ALD - X-ray


ModBase Predicted Comparative 3D Structure on P04075
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0003779 actin binding
GO:0003824 catalytic activity
GO:0004332 fructose-bisphosphate aldolase activity
GO:0005515 protein binding
GO:0008092 cytoskeletal protein binding
GO:0015631 tubulin binding
GO:0016829 lyase activity
GO:0042802 identical protein binding
GO:0045296 cadherin binding
GO:0070061 fructose binding

Biological Process:
GO:0002576 platelet degranulation
GO:0006000 fructose metabolic process
GO:0006094 gluconeogenesis
GO:0006096 glycolytic process
GO:0006754 ATP biosynthetic process
GO:0006941 striated muscle contraction
GO:0007015 actin filament organization
GO:0007339 binding of sperm to zona pellucida
GO:0008360 regulation of cell shape
GO:0030388 fructose 1,6-bisphosphate metabolic process
GO:0043312 neutrophil degranulation
GO:0046716 muscle cell cellular homeostasis
GO:0051289 protein homotetramerization
GO:0061621 canonical glycolysis

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0015629 actin cytoskeleton
GO:0016020 membrane
GO:0031093 platelet alpha granule lumen
GO:0031430 M band
GO:0031674 I band
GO:0034774 secretory granule lumen
GO:0070062 extracellular exosome
GO:1904724 tertiary granule lumen
GO:1904813 ficolin-1-rich granule lumen


-  Descriptions from all associated GenBank mRNAs
  AK308748 - Homo sapiens cDNA, FLJ98789.
AK098778 - Homo sapiens cDNA FLJ25912 fis, clone CBR04752, highly similar to FRUCTOSE-BISPHOSPHATE ALDOLASE A (EC 4.1.2.13).
BC004333 - Homo sapiens aldolase A, fructose-bisphosphate, mRNA (cDNA clone MGC:10942 IMAGE:3630974), complete cds.
FJ474908 - Homo sapiens epididymis secretory sperm binding protein Li 87p (HEL-S-87p) mRNA, complete cds.
M11560 - Human aldolase A mRNA, complete cds.
BC016800 - Homo sapiens aldolase A, fructose-bisphosphate, mRNA (cDNA clone MGC:24421 IMAGE:4072487), complete cds.
BC013614 - Homo sapiens aldolase A, fructose-bisphosphate, mRNA (cDNA clone MGC:17767 IMAGE:3880857), complete cds.
BX647566 - Homo sapiens mRNA; cDNA DKFZp313O0624 (from clone DKFZp313O0624).
D28356 - Homo sapiens mRNA for fructose-bisphosphate aldolase A, 5'UTR region.
BC010660 - Homo sapiens aldolase A, fructose-bisphosphate, mRNA (cDNA clone MGC:17716 IMAGE:3869603), complete cds.
X05236 - Human fibroblast mRNA for aldolase A.
DL492329 - Novel nucleic acids.
DL490818 - Novel nucleic acids.
AK026577 - Homo sapiens cDNA: FLJ22924 fis, clone KAT06977, highly similar to HSALDAR Human fibroblast mRNA for aldolase A.
BC012880 - Homo sapiens aldolase A, fructose-bisphosphate, mRNA (cDNA clone MGC:17529 IMAGE:3459009), complete cds.
BC015888 - Homo sapiens aldolase A, fructose-bisphosphate, mRNA (cDNA clone MGC:10213 IMAGE:3911623), complete cds.
AK301993 - Homo sapiens cDNA FLJ56890 complete cds, highly similar to Fructose-bisphosphate aldolase A (EC4.1.2.13).
LF209534 - JP 2014500723-A/17037: Polycomb-Associated Non-Coding RNAs.
LF322060 - JP 2014500723-A/129563: Polycomb-Associated Non-Coding RNAs.
DQ894246 - Synthetic construct Homo sapiens clone IMAGE:100008706; FLH169002.01L; RZPDo839F0693D aldolase A, fructose-bisphosphate (ALDOA) gene, encodes complete protein.
DQ891065 - Synthetic construct clone IMAGE:100003695; FLH169006.01X; RZPDo839F0694D aldolase A, fructose-bisphosphate (ALDOA) gene, encodes complete protein.
CU680642 - Synthetic construct Homo sapiens gateway clone IMAGE:100023477 5' read ALDOA mRNA.
KJ890659 - Synthetic construct Homo sapiens clone ccsbBroadEn_00053 ALDOA gene, encodes complete protein.
KR709335 - Synthetic construct Homo sapiens clone CCSBHm_00000708 ALDOA (ALDOA) mRNA, encodes complete protein.
KR709336 - Synthetic construct Homo sapiens clone CCSBHm_00000709 ALDOA (ALDOA) mRNA, encodes complete protein.
KR709337 - Synthetic construct Homo sapiens clone CCSBHm_00000711 ALDOA (ALDOA) mRNA, encodes complete protein.
LF208721 - JP 2014500723-A/16224: Polycomb-Associated Non-Coding RNAs.
CR541880 - Homo sapiens full open reading frame cDNA clone RZPDo834D0433D for gene ALDOA, aldolase A, fructose-bisphosphate; complete cds, without stopcodon.
CR536528 - Homo sapiens full open reading frame cDNA clone RZPDo834G0120D for gene ALDOA, aldolase A, fructose-bisphosphate; complete cds, incl. stopcodon.
DL492119 - Novel nucleic acids.
LF329315 - JP 2014500723-A/136818: Polycomb-Associated Non-Coding RNAs.
DL490655 - Novel nucleic acids.
DQ600112 - Homo sapiens piRNA piR-38178, complete sequence.
LF351598 - JP 2014500723-A/159101: Polycomb-Associated Non-Coding RNAs.
LF329318 - JP 2014500723-A/136821: Polycomb-Associated Non-Coding RNAs.
LF322059 - JP 2014500723-A/129562: Polycomb-Associated Non-Coding RNAs.
BC000367 - Homo sapiens aldolase A, fructose-bisphosphate, mRNA (cDNA clone IMAGE:2819299), partial cds.
BC016170 - Homo sapiens, Similar to aldolase A, fructose-bisphosphate, clone IMAGE:3534624, mRNA, partial cds.
EF036496 - Homo sapiens aldolase A mRNA, partial cds.
LF351599 - JP 2014500723-A/159102: Polycomb-Associated Non-Coding RNAs.
M21190 - Human fructose 1,6-diphosphate aldolaseA mRNA, 5' end.
EF036497 - Homo sapiens aldolase A mRNA, partial cds.
LF351600 - JP 2014500723-A/159103: Polycomb-Associated Non-Coding RNAs.
LF322058 - JP 2014500723-A/129561: Polycomb-Associated Non-Coding RNAs.
JD026659 - Sequence 7683 from Patent EP1572962.
JD030548 - Sequence 11572 from Patent EP1572962.
LF351601 - JP 2014500723-A/159104: Polycomb-Associated Non-Coding RNAs.
LF329320 - JP 2014500723-A/136823: Polycomb-Associated Non-Coding RNAs.
LF322057 - JP 2014500723-A/129560: Polycomb-Associated Non-Coding RNAs.
JD022640 - Sequence 3664 from Patent EP1572962.
LF351602 - JP 2014500723-A/159105: Polycomb-Associated Non-Coding RNAs.
LF329321 - JP 2014500723-A/136824: Polycomb-Associated Non-Coding RNAs.
LF322056 - JP 2014500723-A/129559: Polycomb-Associated Non-Coding RNAs.
JD252537 - Sequence 233561 from Patent EP1572962.
JD476139 - Sequence 457163 from Patent EP1572962.
MA557637 - JP 2018138019-A/129563: Polycomb-Associated Non-Coding RNAs.
MA564892 - JP 2018138019-A/136818: Polycomb-Associated Non-Coding RNAs.
MA587175 - JP 2018138019-A/159101: Polycomb-Associated Non-Coding RNAs.
MA564895 - JP 2018138019-A/136821: Polycomb-Associated Non-Coding RNAs.
MA557636 - JP 2018138019-A/129562: Polycomb-Associated Non-Coding RNAs.
MA587176 - JP 2018138019-A/159102: Polycomb-Associated Non-Coding RNAs.
MA587177 - JP 2018138019-A/159103: Polycomb-Associated Non-Coding RNAs.
MA557635 - JP 2018138019-A/129561: Polycomb-Associated Non-Coding RNAs.
MA587178 - JP 2018138019-A/159104: Polycomb-Associated Non-Coding RNAs.
MA564897 - JP 2018138019-A/136823: Polycomb-Associated Non-Coding RNAs.
MA557634 - JP 2018138019-A/129560: Polycomb-Associated Non-Coding RNAs.
MA587179 - JP 2018138019-A/159105: Polycomb-Associated Non-Coding RNAs.
MA564898 - JP 2018138019-A/136824: Polycomb-Associated Non-Coding RNAs.
MA557633 - JP 2018138019-A/129559: Polycomb-Associated Non-Coding RNAs.
MA445111 - JP 2018138019-A/17037: Polycomb-Associated Non-Coding RNAs.
MA444298 - JP 2018138019-A/16224: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY66-373 - sucrose degradation
PWY66-399 - gluconeogenesis
PWY66-400 - glycolysis
PWY66-407 - superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle

BioCarta from NCI Cancer Genome Anatomy Project
h_mta3Pathway - Downregulated of MTA-3 in ER-negative Breast Tumors

Reactome (by CSHL, EBI, and GO)

Protein P04075 (Reactome details) participates in the following event(s):

R-HSA-481007 Exocytosis of platelet alpha granule contents
R-HSA-6798745 Exocytosis of tertiary granule lumen proteins
R-HSA-6800434 Exocytosis of ficolin-rich granule lumen proteins
R-HSA-6798748 Exocytosis of secretory granule lumen proteins
R-HSA-71495 dihydroxyacetone phosphate + D-glyceraldehyde 3-phosphate <=> D-fructose 1,6-bisphosphate
R-HSA-71496 D-fructose 1,6-bisphosphate <=> dihydroxyacetone phosphate + D-glyceraldehyde 3-phosphate
R-HSA-114608 Platelet degranulation
R-HSA-6798695 Neutrophil degranulation
R-HSA-76005 Response to elevated platelet cytosolic Ca2+
R-HSA-168249 Innate Immune System
R-HSA-70263 Gluconeogenesis
R-HSA-70171 Glycolysis
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-168256 Immune System
R-HSA-70326 Glucose metabolism
R-HSA-109582 Hemostasis
R-HSA-71387 Metabolism of carbohydrates
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ALDA, ALDOA , ALDOA_HUMAN, B4DXI7, ENST00000642816.1, ENST00000642816.2, NM_001243177, P04075, Q6FH76, Q6FI10, Q96B15, Q9BWD9, Q9UCN2, uc328jbg.1, uc328jbg.2
UCSC ID: ENST00000642816.3_6
RefSeq Accession: NM_001243177.4
Protein: P04075 (aka ALDOA_HUMAN or ALFA_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.