TALDO1 transaldolase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TALDO1provided by HGNC
Official Full Name: transaldolase 1provided by HGNC
Primary source: HGNC:HGNC:11559
See related: Ensembl:ENSG00000177156 MIM:602063; AllianceGenome:HGNC:11559
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TAL; TALH; TAL-H; TALDOR
Summary: Transaldolase 1 is a key enzyme of the nonoxidative pentose phosphate pathway providing ribose-5-phosphate for nucleic acid synthesis and NADPH for lipid biosynthesis. This pathway can also maintain glutathione at a reduced state and thus protect sulfhydryl groups and cellular integrity from oxygen radicals. The functional gene of transaldolase 1 is located on chromosome 11 and a pseudogene is identified on chromosome 1 but there are conflicting map locations. The second and third exon of this gene were developed by insertion of a retrotransposable element. This gene is thought to be involved in multiple sclerosis. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in bone marrow (RPKM 165.6), esophagus (RPKM 127.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.5

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (747464..765012)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (798942..816524)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (747464..765012)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1.
Title: Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1.
SLC1A5 co-expression with TALDO1 associates with endocrine therapy failure in estrogen receptor-positive breast cancer.
Title: SLC1A5 co-expression with TALDO1 associates with endocrine therapy failure in estrogen receptor-positive breast cancer.
Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway.
Title: Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway.
these results pinpoint transaldolase as a novel metabolic enzyme possessing synthetic lethality with HER2 inhibition.
Title: Synthetic lethality between HER2 and transaldolase in intrinsically resistant HER2-positive breast cancers.
These results demonstrate that the nucleocytoplasmic distribution of TALDO1, modulated via alternative translational initiation and dimer formation, plays an important role in a wide range of metabolic networks
Title: Two isoforms of TALDO1 generated by alternative translational initiation show differential nucleocytoplasmic distribution to regulate the global metabolic network.
The above findings support the premise that biallelic mutations in TALDO1 are responsible for transaldolase deficiency and confirm the broad phenotypic variability of this condition, even with the same genotype.
Title: Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability.
This study expands the clinical definition of transaldolase deficiency, and adds to its allelic heterogeneity.
Title: Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype.
Data suggest that exchange reactions during gluconeogenesis catalyzed by transaldolase and triose-phosphate isomerase do not differ between subjects with type 2 diabetes and control subjects under fasting or hyperglycemic conditions.
Title: Effects of transaldolase exchange on estimates of gluconeogenesis in type 2 diabetes.
renal phenotype of patients with transaldolase deficiency
Title: Nephrological abnormalities in patients with transaldolase deficiency.
these data provide strong experimental evidence that transaldolase exchange occurs in humans, resulting in an overestimate of gluconeogenesis
Title: Transaldolase exchange and its effects on measurements of gluconeogenesis in humans.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Deficiency of transaldolase MedGen: C1291329 OMIM: 606003 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-12900 (e-PCR)
- UniSTS:62302

SHGC-132114 (e-PCR)
- UniSTS:170655

D11S3271 (e-PCR)
- UniSTS:152514

RH36444 (e-PCR)
- UniSTS:49372

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables monosaccharide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transaldolase activity	IBA Inferred from Biological aspect of Ancestor more info
enables transaldolase activity	IDA Inferred from Direct Assay more info	PubMed
enables transaldolase activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in fructose 6-phosphate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in pentose-phosphate shunt, non-oxidative branch	IBA Inferred from Biological aspect of Ancestor more info
involved_in pentose-phosphate shunt, non-oxidative branch	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in nucleus	HDA more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: transaldolase

Names: dihydroxyacetone transferase; glycerone transferase; testicular secretory protein Li 56

NP_006746.1

EC 2.2.1.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.