TALDO1
entrez
6888
canonical
uniprot
P37837
canonical
ensembl
ENSG00000177156
resolver
ensp
ENSP00000321259
resolver
genesymbol
TALDO1
resolver
genesymbol_syn
TAL
resolver
genesymbol_syn
TALDO
resolver
genesymbol_syn
TALDOR
resolver
hgnc
HGNC:11559
resolver
uniprot
A0A140VK56
resolver
uniprot
B2R8M2
resolver
uniprot
O00751
resolver
uniprot
Q8WV32
resolver
uniprot
Q8WZ45
resolver
uniprot_entry
A0A140VK56_HUMAN
resolver
uniprot_entry
TALDO_HUMAN
resolver
uniprot_sec
B2R8M2
resolver
uniprot_sec
O00751
resolver
uniprot_sec
Q8WV32
resolver
uniprot_sec
Q8WZ45
resolver
amino_acid_sequence
MSSSPVKRQRMESALDQLKQFTTVVADTGDFHAIDEYKPQDATTNPSLILAAAQMPAYQELVEEAIAYGRKLGGSQEDQIKNAIDKLFVLFGAEILKKIPGRVSTEVDARLSFDKDAMVARARRLIELYKEAGISKDRILIKLSSTWEGIQAGKELEEQHGIHCNMTLLFSFAQAVACAEAGVTLISPFVGRILDWHVANTDKKSYEPLEDPGVKSVTKIYNYYKKFSYKTIVMGASFRNTGEIKALAGCDFLTISPKLLGELLQDNAKLVPVLSAKAAQASDLEKIHLDEKSFRWLHNEDQMAVEKLSDGIRKFAADAVKLERMLTERMFNAENGK
uniprot
proteins
disease_involvement
DISEASE: Transaldolase deficiency (TALDOD) [MIM:606003]: An inborn error of the pentose phosphate pathway resulting in early-onset multisystem disease. Clinical features include growth retardation, dysmorphic features, cutis laxa, congenital heart disease, hepatosplenomegaly, telangiectases of the skin, pancytopenia, and bleeding tendency. {ECO:0000269|PubMed:11283793, ECO:0000269|PubMed:25388407}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.2.1.2
uniprot
proteins
function
FUNCTION: Catalyzes the rate-limiting step of the non-oxidative phase in the pentose phosphate pathway. Catalyzes the reversible conversion of sedoheptulose-7-phosphate and D-glyceraldehyde 3-phosphate into erythrose-4-phosphate and beta-D-fructose 6-phosphate (PubMed:18687684, PubMed:8955144). Not only acts as a pentose phosphate pathway enzyme, but also affects other metabolite pathways by altering its subcellular localization between the nucleus and the cytoplasm (By similarity). {ECO:0000250|UniProtKB:Q93092, ECO:0000269|PubMed:18687684, ECO:0000269|PubMed:8955144}.
uniprot
proteins
mass_dalton
37540
uniprot
proteins
mutagenesis
MUTAGEN 189; /note="F->Y: Confers fructose-6-phosphate aldolase activity."; /evidence="ECO:0000269|PubMed:18687684
uniprot
proteins
pathway_participation
PATHWAY: Carbohydrate degradation; pentose phosphate pathway; D-glyceraldehyde 3-phosphate and beta-D-fructose 6-phosphate from D-ribose 5-phosphate and D-xylulose 5-phosphate (non-oxidative stage): step 2/3. {ECO:0000250|UniProtKB:Q93092}.
uniprot
proteins
protein_family
Transaldolase family
uniprot
proteins
protein_family
Type 1 subfamily
uniprot
proteins
pubmed
10702296
uniprot
proteins
pubmed
10869557
uniprot
proteins
pubmed
11283793
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18687684
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25388407
uniprot
proteins
pubmed
27703206
uniprot
proteins
pubmed
8300619
uniprot
proteins
pubmed
8955144
uniprot
proteins
pubmed
9339383
uniprot
proteins
pubmed
9524206
uniprot
proteins
sequence_length
337
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Nucleus {ECO:0000250|UniProtKB:Q93092}. Cytoplasm {ECO:0000250|UniProtKB:Q93092}. Note=Shuttles between the nucleus and the cytoplasm. Actively transported into the nucleus in an importin alpha/beta-dependent manner. Exported into the cytoplasm by CRM1. {ECO:0000250|UniProtKB:Q93092}.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm {ECO:0000250|UniProtKB:Q93092}. Note=Imported into the nucleus when incorporated in isoform 1/isoform 2 homodimer. {ECO:0000250|UniProtKB:Q93092}.
uniprot
proteins