ALDOB
entrez
229
canonical
uniprot
P05062
canonical
ensembl
ENSG00000136872
resolver
ensp
ENSP00000497731
resolver
ensp
ENSP00000497767
resolver
ensp
ENSP00000497990
resolver
ensp
ENSP00000573834
resolver
ensp
ENSP00000573835
resolver
ensp
ENSP00000573836
resolver
ensp
ENSP00000573837
resolver
ensp
ENSP00000573838
resolver
ensp
ENSP00000573839
resolver
ensp
ENSP00000573841
resolver
ensp
ENSP00000573844
resolver
ensp
ENSP00000573846
resolver
ensp
ENSP00000573847
resolver
ensp
ENSP00000573848
resolver
ensp
ENSP00000573849
resolver
ensp
ENSP00000573850
resolver
enst
ENST00000647789
resolver
enst
ENST00000648064
resolver
enst
ENST00000648758
resolver
enst
ENST00000903775
resolver
enst
ENST00000903776
resolver
enst
ENST00000903777
resolver
enst
ENST00000903778
resolver
enst
ENST00000903779
resolver
enst
ENST00000903780
resolver
enst
ENST00000903782
resolver
enst
ENST00000903785
resolver
enst
ENST00000903787
resolver
enst
ENST00000903788
resolver
enst
ENST00000903789
resolver
enst
ENST00000903790
resolver
enst
ENST00000903791
resolver
genesymbol
ALDOB
resolver
genesymbol_syn
ALDB
resolver
hgnc
HGNC:417
resolver
uniprot
Q13741
resolver
uniprot
Q13742
resolver
uniprot
Q5T7D6
resolver
uniprot_entry
ALDOB_HUMAN
resolver
uniprot_sec
Q13741
resolver
uniprot_sec
Q13742
resolver
uniprot_sec
Q5T7D6
resolver
amino_acid_sequence
MAHRFPALTQEQKKELSEIAQSIVANGKGILAADESVGTMGNRLQRIKVENTEENRRQFREILFSVDSSINQSIGGVILFHETLYQKDSQGKLFRNILKEKGIVVGIKLDQGGAPLAGTNKETTIQGLDGLSERCAQYKKDGVDFGKWRAVLRIADQCPSSLAIQENANALARYASICQQNGLVPIVEPEVIPDGDHDLEHCQYVTEKVLAAVYKALNDHHVYLEGTLLKPNMVTAGHACTKKYTPEQVAMATVTALHRTVPAAVPGICFLSGGMSEEDATLNLNAINLCPLPKPWKLSFSYGRALQASALAAWGGKAANKEATQEAFMKRAMANCQAAKGQYVHTGSSGAASTQSLFTACYTY
uniprot
proteins
disease_involvement
DISEASE: Hereditary fructose intolerance (HFI) [MIM:229600]: Autosomal recessive disease that results in an inability to metabolize fructose and related sugars. Complete exclusion of fructose results in dramatic recovery; however, if not treated properly, HFI subjects suffer episodes of hypoglycemia, general ill condition, and risk of death the remainder of life. {ECO:0000269|PubMed:10024431, ECO:0000269|PubMed:10970798, ECO:0000269|PubMed:12205126, ECO:0000269|PubMed:15532022, ECO:0000269|PubMed:15880727, ECO:0000269|PubMed:1967768, ECO:0000269|PubMed:20848650, ECO:0000269|PubMed:2336380, ECO:0000269|PubMed:3383242, ECO:0000269|PubMed:8162030, ECO:0000269|PubMed:8299883}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
4.1.2.13
uniprot
proteins
function
FUNCTION: Catalyzes the aldol cleavage of fructose 1,6-biphosphate to form two triosephosphates dihydroxyacetone phosphate and D-glyceraldehyde 3-phosphate in glycolysis as well as the reverse stereospecific aldol addition reaction in gluconeogenesis. In fructolysis, metabolizes fructose 1-phosphate derived from the phosphorylation of dietary fructose by fructokinase into dihydroxyacetone phosphate and D-glyceraldehyde (PubMed:10970798, PubMed:12205126, PubMed:20848650). Acts as an adapter independently of its enzymatic activity, exerts a tumor suppressor role by stabilizing the ternary complex with G6PD and TP53 to inhibit G6PD activity and keep oxidative pentose phosphate metabolism in check (PubMed:35122041). {ECO:0000269|PubMed:10970798, ECO:0000269|PubMed:12205126, ECO:0000269|PubMed:20848650, ECO:0000269|PubMed:35122041}.
uniprot
proteins
mass_dalton
39473
uniprot
proteins
mutagenesis
MUTAGEN 43; /note="R->A: Loss of enzymatic activity. Retains the ability to interact with G6PD."; /evidence="ECO:0000269|PubMed:35122041"; MUTAGEN 46; /note="R->A: Decreases enzymatic activity. Retains the ability to interact with G6PD."; /evidence="ECO:0000269|PubMed:35122041"; MUTAGEN 108; /note="K->A: Decreases enzymatic activity. Retains the ability to interact with G6PD."; /evidence="ECO:0000269|PubMed:35122041"; MUTAGEN 147; /note="K->A: Loss of enzymatic activity. Impairs the interaction with G6PD."; /evidence="ECO:0000269|PubMed:35122041"; MUTAGEN 149; /note="R->A: Loss of enzymatic activity. Impairs the interaction with G6PD."; /evidence="ECO:0000269|PubMed:35122041"; MUTAGEN 230; /note="K->A: Loss of enzymatic activity. Impairs the interaction with G6PD."; /evidence="ECO:0000269|PubMed:35122041"; MUTAGEN 304; /note="R->A: Decreases enzymatic activity. Impairs the interaction with G6PD."; /evidence="ECO:0000269|PubMed:35122041
uniprot
proteins
pathway_participation
PATHWAY: Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 4/4. {ECO:0000305|PubMed:10970798, ECO:0000305|PubMed:12205126, ECO:0000305|PubMed:20848650}.; PATHWAY: Carbohydrate biosynthesis; gluconeogenesis. {ECO:0000305|PubMed:10970798, ECO:0000305|PubMed:12205126, ECO:0000305|PubMed:20848650}.; PATHWAY: Carbohydrate metabolism; fructose metabolism. {ECO:0000269|PubMed:10970798, ECO:0000269|PubMed:12205126, ECO:0000269|PubMed:20848650}.
uniprot
proteins
protein_family
Class I fructose-bisphosphate aldolase family
uniprot
proteins
pubmed
10024431
uniprot
proteins
pubmed
10970798
uniprot
proteins
pubmed
11679716
uniprot
proteins
pubmed
12205126
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15532022
uniprot
proteins
pubmed
15880727
uniprot
proteins
pubmed
18000879
uniprot
proteins
pubmed
1967768
uniprot
proteins
pubmed
20848650
uniprot
proteins
pubmed
2336380
uniprot
proteins
pubmed
2410860
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2649152
uniprot
proteins
pubmed
2830249
uniprot
proteins
pubmed
3016456
uniprot
proteins
pubmed
3383242
uniprot
proteins
pubmed
35122041
uniprot
proteins
pubmed
6548561
uniprot
proteins
pubmed
6585824
uniprot
proteins
pubmed
6689266
uniprot
proteins
pubmed
7717389
uniprot
proteins
pubmed
8162030
uniprot
proteins
pubmed
8299883
uniprot
proteins
pubmed
8535439
uniprot
proteins
sequence_length
364
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:35122041}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000269|PubMed:18000879}.
uniprot
proteins