TALDO1 (transaldolase 1)

Gene

• Entrez ID: 6888
• Gene name: Transaldolase 1
• Gene symbol: TALDO1
• Synonyms (NCBI Gene): TAL, TAL-H, TALDOR, TALH
• Chromosome: 11
• Chromosome location: 11p15.5
• 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 sulfhydr

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853085	CCT>-	Pathogenic	Coding sequence variant, inframe deletion
rs151052416	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs727502867	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs751425603	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs753787975	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs797045110	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1057524714	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1590072094	->T	Likely-pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT048990	hsa-miR-92a-3p	CLASH	23622248
MIRT043964	hsa-miR-378a-5p	CLASH	23622248
MIRT036671	hsa-miR-935	CLASH	23622248
MIRT1410243	hsa-miR-134	CLIP-seq
MIRT1410244	hsa-miR-3118	CLIP-seq
MIRT1410245	hsa-miR-3609	CLIP-seq
MIRT1410246	hsa-miR-4282	CLIP-seq
MIRT1410247	hsa-miR-4423-3p	CLIP-seq
MIRT1410248	hsa-miR-4786-3p	CLIP-seq
MIRT1410249	hsa-miR-548ah	CLIP-seq
MIRT1410250	hsa-miR-548t	CLIP-seq
MIRT1410251	hsa-miR-590-3p	CLIP-seq
MIRT2122948	hsa-miR-1266	CLIP-seq
MIRT2122949	hsa-miR-1289	CLIP-seq
MIRT2122950	hsa-miR-3198	CLIP-seq
MIRT2122951	hsa-miR-4270	CLIP-seq
MIRT2122952	hsa-miR-4294	CLIP-seq
MIRT2122953	hsa-miR-4309	CLIP-seq
MIRT2122954	hsa-miR-4441	CLIP-seq
MIRT2122955	hsa-miR-4518	CLIP-seq
MIRT2122956	hsa-miR-516b	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ZNF143	Unknown	14702349
ZNF76	Unknown	14702349

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004801	Function	Transaldolase activity	IBA
GO:0004801	Function	Transaldolase activity	IDA	18687684
GO:0004801	Function	Transaldolase activity	IEA
GO:0004801	Function	Transaldolase activity	IMP	18498245
GO:0004801	Function	Transaldolase activity	TAS	9524206
GO:0005515	Function	Protein binding	IPI	21044950, 25854864, 32814053
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	16130169
GO:0005829	Component	Cytosol	IDA	18498245
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0005975	Process	Carbohydrate metabolic process	TAS	9524206
GO:0006002	Process	Fructose 6-phosphate metabolic process	IEA
GO:0006098	Process	Pentose-phosphate shunt	IEA
GO:0009052	Process	Pentose-phosphate shunt, non-oxidative branch	IBA
GO:0009052	Process	Pentose-phosphate shunt, non-oxidative branch	IEA
GO:0009052	Process	Pentose-phosphate shunt, non-oxidative branch	IMP	18498245
GO:0016740	Function	Transferase activity	IEA
GO:0019682	Process	Glyceraldehyde-3-phosphate metabolic process	IEA
GO:0030246	Function	Carbohydrate binding	IEA
GO:0048029	Function	Monosaccharide binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337, 23533145

Other IDs

• MIM: 602063
• HGNC: 11559
• e!Ensembl: ENSG00000177156

Protein

• UniProt ID: P37837
• Protein name: Transaldolase (EC 2.2.1.2)
• Protein function: Catalyzes the rate-limiting step of the non-oxidative phase in the pentose phosphate pathway. Catalyzes the reversible conversion of sedheptulose-7-phosphate and D-glyceraldehyde 3-phosphate into erythrose-4-phosphate and beta-D-fructose 6-phosp
• PDB: 1F05
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00923	TAL_FSA	24 → 326	Transaldolase/Fructose-6-phosphate aldolase	Domain

• Sequence:

  MSSSPVKRQRMESALDQLKQFTTVVADTGDFHAIDEYKPQDATTNPSLILAAAQMPAYQE
  LVEEAIAYGRKLGGSQEDQIKNAIDKLFVLFGAEILKKIPGRVSTEVDARLSFDKDAMVA
  RARRLIELYKEAGISKDRILIKLSSTWEGIQAGKELEEQHGIHCNMTLLFSFAQAVACAE
  AGVTLISPFVGRILDWHVANTDKKSYEPLEDPGVKSVTKIYNYYKKFSYKTIVMGASFRN
  TGEIKALAGCDFLTISPKLLGELLQDNAKLVPVLSAKAAQASDLEKIHLDEKSFRWLHNE
  DQMAVEKLSDGIRKFAADAVKLERMLTERMFNAENGK

• Sequence length: 337

Pathways

KEGG:

Pentose phosphate pathway
Metabolic pathways
Carbon metabolism
Biosynthesis of amino acids

Reactome:

Insulin effects increased synthesis of Xylulose-5-Phosphate
TALDO1 deficiency: failed conversion of SH7P, GA3P to Fru(6)P, E4P
TALDO1 deficiency: failed conversion of Fru(6)P, E4P to SH7P, GA3P
Pentose phosphate pathway
Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Deficiency of transaldolase	Pathogenic; Likely pathogenic	rs727502867, rs1259081430, rs797045110, rs137853085, rs1279835702, rs752085688, rs1182889391, rs751425603, rs151052416, rs753787975, rs201836196, rs1448870204	RCV000150042 RCV003314044 RCV000190629 RCV000007998 RCV003319944 RCV003337805 RCV005871386 RCV000679866 RCV006270384 RCV000767871 RCV001250884 RCV001171519	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TALDO1-related disorder	Likely pathogenic; Pathogenic	rs753787975, rs1182889391	RCV003422498 RCV003927056	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARBOHYDRATE METABOLISM, INBORN ERRORS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF CARBOHYDRATE METABOLISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe global developmental delay	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSALDOLASE DEFICIENCY	—	CTD, Disgenet, GWAS catalog, HPO, Orphanet CTD, Disgenet, GWAS catalog, HPO, Orphanet CTD, Disgenet, GWAS catalog, HPO, Orphanet CTD, Disgenet, GWAS catalog, HPO, Orphanet CTD, Disgenet, GWAS catalog, HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acatalasia	Acatalasia	BEFREE	11390181		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	22301904		★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	9077532		★☆☆☆☆ Found in Text Mining only
Biventricular hypertrophy	Biventricular hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30323337		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30323337, 34282517	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	2303035	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34677006	Associate	★☆☆☆☆ Found in Text Mining only
Catalase deficiency	Acatalasia	BEFREE	11390181		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	34677006	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29650676		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	17095351		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of the kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	9077532	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	23492569		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	23492569		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	20826743, 23492569		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	LHGDN	17095351		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	31103287	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	22491738		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	22491738	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	2303035		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	19436114		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30418535, 31769880		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	15115436, 17095351		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	15115436	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	34677006	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	17095351, 31769880		★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30323337		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	11390181		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14504110		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	17095351		★☆☆☆☆ Found in Text Mining only
Micronodular cirrhosis	Micronodular cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	10869557, 9077532		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	16339578, 9077532	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	19056584	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	26884841	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	CTD_human_DG	23233872		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	34480296	Associate	★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	21112032		★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	LHGDN	18331807		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	18805652		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	18805652	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	18805652		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	22468085	Associate	★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
Transaldolase Deficiency	Transaldolase Deficiency	BEFREE	11283793, 15115436, 15877206, 25388407		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transaldolase Deficiency	Transaldolase deficiency	Pubtator	11283793, 15115436	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transaldolase Deficiency	Transaldolase Deficiency	GENOMICS_ENGLAND_DG	18331807, 21119539, 23315216, 24097415, 25388407		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transaldolase Deficiency	Transaldolase Deficiency	ORPHANET_DG	23315216		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transaldolase deficiency	Transaldolase Deficiency	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transaldolase Deficiency	Transaldolase Deficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transaldolase Deficiency	Transaldolase Deficiency	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	11390181		★☆☆☆☆ Found in Text Mining only