|
gptkbp:instanceOf
|
gptkb:protein
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:TAL
Transaldolase-1
|
|
gptkbp:associatedWith
|
transaldolase deficiency
|
|
gptkbp:conservedIn
|
Transaldolase-like domain
|
|
gptkbp:discoveredBy
|
biochemical studies
|
|
gptkbp:diseaseDatabase
|
Orphanet: ORPHA:2091
|
|
gptkbp:encodes
|
Transaldolase
|
|
gptkbp:Entrez_Gene_ID
|
ENSG00000162227
6888
|
|
gptkbp:enzymeCommissionNumber
|
2.2.1.2
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
gptkb:kidney
liver
|
|
gptkbp:function
|
gptkb:pentose_phosphate_pathway
catalyzes transfer of three-carbon units
|
|
gptkbp:gene
|
gptkb:TALDO1
|
|
gptkbp:geneLocationEnd
|
95801313
|
|
gptkbp:geneLocationStart
|
95783712
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasProteinIsoform
|
NP_006746.1
|
|
gptkbp:hasTranscriptVariant
|
NM_006755.3
|
|
gptkbp:HGNC_ID
|
11849
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
TALDO1
|
|
gptkbp:interactsWith
|
gptkb:G6PD
gptkb:TKT
PRPS1
|
|
gptkbp:length
|
337 amino acids
|
|
gptkbp:locatedOnChromosome
|
chromosome 11
|
|
gptkbp:molecularWeight
|
37 kDa
|
|
gptkbp:mutationAssociatedWith
|
transaldolase deficiency
|
|
gptkbp:OMIM
|
602257
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Taldo1
|
|
gptkbp:pathway
|
carbohydrate metabolism
oxidative stress response
|
|
gptkbp:product
|
homodimer
|
|
gptkbp:proteinFamily
|
gptkb:aldolase_family
|
|
gptkbp:significance
|
hepatosplenomegaly
liver dysfunction
coagulopathy
|
|
gptkbp:strand
|
plus
|
|
gptkbp:subcellularLocation
|
gptkb:cytoplasm
|
|
gptkbp:UniProtID
|
P37837
|
|
gptkbp:bfsParent
|
gptkb:5TAL
|
|
gptkbp:bfsLayer
|
8
|