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TALDO1 (transaldolase 1)

Written2013-07Zachary Oaks, Andras Perl
Departments of Medicine, Microbiology,, Immunology, Biochemistry, Molecular Biology, Neuroscience, Physiology,, Pathology, SUNY Upstate Medical University, Syracuse, New York, USA

(Note : for Links provided by Atlas : click)

Identity

Other aliasTAL
TAL-H
TALDOR
TALH
HGNC (Hugo) TALDO1
LocusID (NCBI) 6888
Atlas_Id 50613
Location 11p15.5  [Link to chromosome band 11p15]
Location_base_pair Starts at 747432 and ends at 765024 bp from pter ( according to hg19-Feb_2009)  [Mapping TALDO1.png]
 
Fusion genes
(updated 2016)
INTS8 (8q22.1) / TALDO1 (11p15.5)RFNG (17q25.3) / TALDO1 (11p15.5)RPLP2 (11p15.5) / TALDO1 (11p15.5)
TALDO1 (11p15.5) / TALDO1 (11p15.5)TALDO1 (11p15.5) / ZNFX1 (20q13.13)

DNA/RNA

Note Starts at 747432 bp from pter and ends at 765024 bp from pter according to hg19-Feb_2009.
Size: 17593 bases; Orientation: TALDO1 is on the plus strand.
Description Exons 2 and 3 of TALDO1 contain retrotransposable elements (Banki et al., 1994).
Transcription TALDO1 has 8 exons and its mRNA is composed of 1319 bp.
Pseudogene TALDO1P1 (Transaldolase 1 pseudogene 1).

Protein

 
  The 3-dimensional structure of transaldolase from Thorell et al., 2000. Image downloaded from http://www.ebi.ac.uk.
Description Transaldolase (TAL) is a 337 amino acid protein in the non-oxidative phase of the pentose phosphate pathway (PPP) with a predicted mass of 37.55kDa. TAL has an α/β barrel and that includes lysine 142 which is responsible for generating the Schiff base intermediate during sugar phosphate metabolism (Thorell et al.,200). A mass spectrometry based investigation of the acetylome identified TAL acetylation at lysines 286, 269, 321, 219 (Choudhary et al., 2009). It has also been proposed that TAL activity may be affected by phosphorylation (Lachaise et al., 2001).
Expression TALDO1 is ubiquitously expressed, except in erythrocytes.
Localisation Cytosol and nucleus (Colombo et al., 1997).
Function The reversible reaction carried out by TAL is: erythros-4-phosphate+fructose-6-phophate<->glyceraldehydes-3-phosphate+sedoheptulose-7-phosphate. TAL has been proposed as the rate limiting enzyme in the non-oxidative PPP (Banki et al., 1996; Heinrich et al., 1976; Perl, 2007; Wood, 1985).
 
  From blast of reference proteins (Refseq) against human Transaldolase (NP_006746.1).
Homology Using the blastp function within Homo sapiens, the only protein to share homology within humans (a paralog) was sorting nexin 32 (SNX32) with an identity of 36%.
 

Mutations

Germinal Homozygous deletion of Serine 171 due to the loss of 3bp in the TALDO1 sequence results in liver cirrhosis and subsequent carcinogenesis.

Implicated in

Note
  
Entity Hepatocellular carcinoma
Cytogenetics Deletion of nucleotides 512-514 in TALDO1 resulted in the loss of serine 171 in the TAL protein and subsequent TAL deficiency (Verhoeven et al., 2001; Valayannopoulos et al., 2006). TAL deficiency results in the accumulation of sedoheptulose-7-phosphate and polyols. Further studies into TAL deficiency determined that the deletion of S171 resulted in a complete loss of enzymatic activity and rapid degradation in the proteasome (Grossman et al., 2004). Missense mutations at arginine 192, in which the arginine is mutated to either a histidine or cysteine, also results in loss of TAL activity and liver damage in patients (Verhoeven et al., 2005; Wamelink at al., 2008). In addition to liver damage, renal and cardiac complications are also present in these patients (Verhoeven et al., 2001; Valayannopoulos et al., 2006; Verhoeven et al., 2005; Wamelink et al., 2008).
In a mouse model of TAL deficiency, sperm dysmotility and subsequent male infertility are present (Perl et al., 2006). Furthermore, TAL deficiency results in the development of hepatosteatosis, cirrhosis, and hepatocellular carcinoma in both homozygous TAL knockouts and heterozygous mice relative to C57Bl/6 wild type mice (Hanczko et al., 2009). The pathogenic mechanism of liver damage in TAL deficiency is linked to depletion of NADPH, oxidative stress, and mitochondrial dysfunction (Perl et al., 2011). In TAL deficiency, it has been proposed that oxidative stress is exacerbated by increased aldose reductase activity which generates polyols and depletes NADPH (Perl et al., 2011). Low NADPH diminishes the cells ability to regulate cellular redox and polyols can induce proliferation through JNK/c-Jun (Perl et al., 2011). Thus, TAL deficiency and insufficiency predispose to oxidative stress which promotes liver damage, increased proliferation, and hepatocellular carcinoma.
  
  
Entity Squamous cell carcinoma of the head and neck
Cytogenetics 3 SNPs in the TALDO1 gene have been associated with different squamous cell carcinoma of the head and neck risk. The conversion of cytosine to either guanine or thymine at 490bp upstream of the origin of replication (rs10794338) was protective against tumorigenesis (Basta et al., 2008). In contrast, the mutation of thymine to adenine at position 1874 (rs3901233) and adenine to cytosine at position 2187 (rs4963163) increase the risk of squamous cell cancer of the head and neck (Basta et al., 2008).
  

Bibliography

Cloning and expression of the human gene for transaldolase. A novel highly repetitive element constitutes an integral part of the coding sequence.
Banki K, Halladay D, Perl A.
J Biol Chem. 1994 Jan 28;269(4):2847-51.
PMID 8300619
 
Glutathione levels and sensitivity to apoptosis are regulated by changes in transaldolase expression.
Banki K, Hutter E, Colombo E, Gonchoroff NJ, Perl A.
J Biol Chem. 1996 Dec 20;271(51):32994-3001.
PMID 8955144
 
Genetic variation in Transaldolase 1 and risk of squamous cell carcinoma of the head and neck.
Basta PV, Bensen JT, Tse CK, Perou CM, Sullivan PF, Olshan AF.
Cancer Detect Prev. 2008;32(3):200-8. doi: 10.1016/j.cdp.2008.08.008. Epub 2008 Sep 20.
PMID 18805652
 
Lysine acetylation targets protein complexes and co-regulates major cellular functions.
Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M.
Science. 2009 Aug 14;325(5942):834-40. doi: 10.1126/science.1175371. Epub 2009 Jul 16.
PMID 19608861
 
Comparative analysis of antibody and cell-mediated autoimmunity to transaldolase and myelin basic protein in patients with multiple sclerosis.
Colombo E, Banki K, Tatum AH, Daucher J, Ferrante P, Murray RS, Phillips PE, Perl A.
J Clin Invest. 1997 Mar 15;99(6):1238-50.
PMID 9077532
 
Deletion of Ser-171 causes inactivation, proteasome-mediated degradation and complete deficiency of human transaldolase.
Grossman CE, Niland B, Stancato C, Verhoeven NM, Van Der Knaap MS, Jakobs C, Brown LM, Vajda S, Banki K, Perl A.
Biochem J. 2004 Sep 1;382(Pt 2):725-31.
PMID 15115436
 
Prevention of hepatocarcinogenesis and increased susceptibility to acetaminophen-induced liver failure in transaldolase-deficient mice by N-acetylcysteine.
Hanczko R, Fernandez DR, Doherty E, Qian Y, Vas G, Niland B, Telarico T, Garba A, Banerjee S, Middleton FA, Barrett D, Barcza M, Banki K, Landas SK, Perl A.
J Clin Invest. 2009 Jun;119(6):1546-57. doi: 10.1172/JCI35722. Epub 2009 May 11.
PMID 19436114
 
Behavior of transaldolase (EC 2.2.1.2) and transketolase (EC 2.2.1.1) Activities in normal, neoplastic, differentiating, and regenerating liver.
Heinrich PC, Morris HP, Weber G.
Cancer Res. 1976 Sep;36(9 pt.1):3189-97.
PMID 10080
 
Relationship between posttranslational modification of transaldolase and catalase deficiency in UV-sensitive repair-deficient xeroderma pigmentosum fibroblasts and SV40-transformed human cells.
Lachaise F, Martin G, Drougard C, Perl A, Vuillaume M, Wegnez M, Sarasin A, Daya-Grosjean L.
Free Radic Biol Med. 2001 Jun 15;30(12):1365-73.
PMID 11390181
 
Oxidative stress, inflammation and carcinogenesis are controlled through the pentose phosphate pathway by transaldolase.
Perl A, Hanczko R, Telarico T, Oaks Z, Landas S.
Trends Mol Med. 2011 Jul;17(7):395-403. doi: 10.1016/j.molmed.2011.01.014. Epub 2011 Mar 2. (REVIEW)
PMID 21376665
 
Transaldolase is essential for maintenance of the mitochondrial transmembrane potential and fertility of spermatozoa.
Perl A, Qian Y, Chohan KR, Shirley CR, Amidon W, Banerjee S, Middleton FA, Conkrite KL, Barcza M, Gonchoroff N, Suarez SS, Banki K.
Proc Natl Acad Sci U S A. 2006 Oct 3;103(40):14813-8. Epub 2006 Sep 26.
PMID 17003133
 
The pathogenesis of transaldolase deficiency.
Perl A.
IUBMB Life. 2007 Jun;59(6):365-73. (REVIEW)
PMID 17613166
 
The three-dimensional structure of human transaldolase.
Thorell S, Gergely P Jr, Banki K, Perl A, Schneider G.
FEBS Lett. 2000 Jun 23;475(3):205-8.
PMID 10869557
 
Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease.
Valayannopoulos V, Verhoeven NM, Mention K, Salomons GS, Sommelet D, Gonzales M, Touati G, de Lonlay P, Jakobs C, Saudubray JM.
J Pediatr. 2006 Nov;149(5):713-7.
PMID 17095351
 
A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency.
Verhoeven NM, Wallot M, Huck JH, Dirsch O, Ballauf A, Neudorf U, Salomons GS, van der Knaap MS, Voit T, Jakobs C.
J Inherit Metab Dis. 2005;28(2):169-79.
PMID 15877206
 
Transaldolase deficiency in a two-year-old boy with cirrhosis.
Wamelink MM, Struys EA, Salomons GS, Fowler D, Jakobs C, Clayton PT.
Mol Genet Metab. 2008 Jun;94(2):255-8. doi: 10.1016/j.ymgme.2008.01.011. Epub 2008 Mar 10.
PMID 18331807
 
The pentose phosphate pathway.
Wood T.
New York: Academic Press. 1985.
 

Citation

This paper should be referenced as such :
Oaks, Z ; Perl, A
TALDO1 (transaldolase 1)
Atlas Genet Cytogenet Oncol Haematol. 2014;18(2):117-121.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/TALDO1ID50613ch11p15.html


External links

Nomenclature
HGNC (Hugo)TALDO1   11559
Cards
AtlasTALDO1ID50613ch11p15
Entrez_Gene (NCBI)TALDO1  6888  transaldolase 1
AliasesTAL; TAL-H; TALDOR; TALH
GeneCards (Weizmann)TALDO1
Ensembl hg19 (Hinxton)ENSG00000177156 [Gene_View]  chr11:747432-765024 [Contig_View]  TALDO1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000177156 [Gene_View]  chr11:747432-765024 [Contig_View]  TALDO1 [Vega]
ICGC DataPortalENSG00000177156
TCGA cBioPortalTALDO1
AceView (NCBI)TALDO1
Genatlas (Paris)TALDO1
WikiGenes6888
SOURCE (Princeton)TALDO1
Genetics Home Reference (NIH)TALDO1
Genomic and cartography
GoldenPath hg19 (UCSC)TALDO1  -     chr11:747432-765024 +  11p15.5-p15.4   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TALDO1  -     11p15.5-p15.4   [Description]    (hg38-Dec_2013)
EnsemblTALDO1 - 11p15.5-p15.4 [CytoView hg19]  TALDO1 - 11p15.5-p15.4 [CytoView hg38]
Mapping of homologs : NCBITALDO1 [Mapview hg19]  TALDO1 [Mapview hg38]
OMIM602063   606003   
Gene and transcription
Genbank (Entrez)AK295537 AK313427 BC009680 BC010103 BC018847
RefSeq transcript (Entrez)NM_006755
RefSeq genomic (Entrez)NC_000011 NC_018922 NG_008160 NT_009237 NW_004929378
Consensus coding sequences : CCDS (NCBI)TALDO1
Cluster EST : UnigeneHs.438678 [ NCBI ]
CGAP (NCI)Hs.438678
Alternative Splicing GalleryENSG00000177156
Gene ExpressionTALDO1 [ NCBI-GEO ]   TALDO1 [ EBI - ARRAY_EXPRESS ]   TALDO1 [ SEEK ]   TALDO1 [ MEM ]
Gene Expression Viewer (FireBrowse)TALDO1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6888
GTEX Portal (Tissue expression)TALDO1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP37837   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP37837  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP37837
Splice isoforms : SwissVarP37837
PhosPhoSitePlusP37837
Domaine pattern : Prosite (Expaxy)TRANSALDOLASE_1 (PS01054)    TRANSALDOLASE_2 (PS00958)   
Domains : Interpro (EBI)Aldolase_TIM    TAL/FSA    Transaldolase_1    Transaldolase_AS   
Domain families : Pfam (Sanger)Transaldolase (PF00923)   
Domain families : Pfam (NCBI)pfam00923   
Conserved Domain (NCBI)TALDO1
DMDM Disease mutations6888
Blocks (Seattle)TALDO1
PDB (SRS)1F05   
PDB (PDBSum)1F05   
PDB (IMB)1F05   
PDB (RSDB)1F05   
Structural Biology KnowledgeBase1F05   
SCOP (Structural Classification of Proteins)1F05   
CATH (Classification of proteins structures)1F05   
SuperfamilyP37837
Human Protein AtlasENSG00000177156
Peptide AtlasP37837
HPRD03640
IPIIPI00744692   IPI00982361   IPI00979270   IPI00982472   
Protein Interaction databases
DIP (DOE-UCLA)P37837
IntAct (EBI)P37837
FunCoupENSG00000177156
BioGRIDTALDO1
STRING (EMBL)TALDO1
ZODIACTALDO1
Ontologies - Pathways
QuickGOP37837
Ontology : AmiGOsedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity  protein binding  nucleus  cytoplasm  cytosol  carbohydrate metabolic process  xylulose biosynthetic process  fructose 6-phosphate metabolic process  pentose-phosphate shunt  pentose-phosphate shunt, non-oxidative branch  monosaccharide binding  extracellular exosome  
Ontology : EGO-EBIsedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity  protein binding  nucleus  cytoplasm  cytosol  carbohydrate metabolic process  xylulose biosynthetic process  fructose 6-phosphate metabolic process  pentose-phosphate shunt  pentose-phosphate shunt, non-oxidative branch  monosaccharide binding  extracellular exosome  
Pathways : KEGGPentose phosphate pathway   
REACTOMEP37837 [protein]
REACTOME Pathways163754 [pathway]   71336 [pathway]   
NDEx NetworkTALDO1
Atlas of Cancer Signalling NetworkTALDO1
Wikipedia pathwaysTALDO1
Orthology - Evolution
OrthoDB6888
GeneTree (enSembl)ENSG00000177156
Phylogenetic Trees/Animal Genes : TreeFamTALDO1
HOVERGENP37837
HOGENOMP37837
Homologs : HomoloGeneTALDO1
Homology/Alignments : Family Browser (UCSC)TALDO1
Gene fusions - Rearrangements
Fusion : MitelmanRPLP2/TALDO1 [11p15.5/11p15.5]  [t(11;11)(p15;p15)]  
Fusion : MitelmanTALDO1/ZNFX1 [11p15.5/20q13.13]  [t(11;20)(p15;q13)]  
Fusion: TCGARPLP2 11p15.5 TALDO1 11p15.5 LUAD
Fusion: TCGATALDO1 11p15.5 ZNFX1 20q13.13 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTALDO1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TALDO1
dbVarTALDO1
ClinVarTALDO1
1000_GenomesTALDO1 
Exome Variant ServerTALDO1
ExAC (Exome Aggregation Consortium)TALDO1 (select the gene name)
Genetic variants : HAPMAP6888
Genomic Variants (DGV)TALDO1 [DGVbeta]
DECIPHER (Syndromes)11:747432-765024  ENSG00000177156
CONAN: Copy Number AnalysisTALDO1 
Mutations
ICGC Data PortalTALDO1 
TCGA Data PortalTALDO1 
Broad Tumor PortalTALDO1
OASIS PortalTALDO1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTALDO1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTALDO1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TALDO1
DgiDB (Drug Gene Interaction Database)TALDO1
DoCM (Curated mutations)TALDO1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TALDO1 (select a term)
intoGenTALDO1
NCG5 (London)TALDO1
Cancer3DTALDO1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602063    606003   
Orphanet14739   
MedgenTALDO1
Genetic Testing Registry TALDO1
NextProtP37837 [Medical]
TSGene6888
GENETestsTALDO1
Huge Navigator TALDO1 [HugePedia]
snp3D : Map Gene to Disease6888
BioCentury BCIQTALDO1
ClinGenTALDO1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6888
Chemical/Pharm GKB GenePA36328
Clinical trialTALDO1
Miscellaneous
canSAR (ICR)TALDO1 (select the gene name)
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTALDO1
EVEXTALDO1
GoPubMedTALDO1
iHOPTALDO1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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