Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6888
Gene name	Transaldolase 1
Gene symbol	TALDO1
Synonyms (NCBI Gene)	TALTAL-HTALDORTALH
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

Show/Hide all (8)

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

Show/Hide all (21)

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

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Transcription factor	Regulation	Reference
ZNF143	Unknown	14702349
ZNF76	Unknown	14702349

Show/Hide all (26)

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

MIM	HGNC	e!Ensembl
602063	11559	ENSG00000177156

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

Interactions

View interactions

	KEGG		Reactome
	Pentose phosphate pathway Metabolic pathways Carbon metabolism Biosynthesis of amino acids		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

142

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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
TALDO1-related disorder	Likely pathogenic; Pathogenic	rs753787975, rs1182889391	RCV003422498 RCV003927056

Show/Hide Unknown Diseases (23)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs11302	RCV005893025
Adrenocortical carcinoma, hereditary	Benign; Likely benign	rs11302	RCV005893028
Cataract	Uncertain significance	rs766745943	RCV000626899
Cervical cancer	Benign; Likely benign	rs11302	RCV005893029
Clear cell carcinoma of kidney	Benign; Likely benign	rs11302	RCV005893030
Colon adenocarcinoma	Benign; Likely benign	rs11302	RCV005893024
Colorectal cancer	Benign; Likely benign	rs11302	RCV005893032
Familial cancer of breast	Uncertain significance	rs149640294	RCV005893021
Gastric cancer	Likely benign; Benign	rs1477220792, rs11302	RCV005869868 RCV005893034
Hepatocellular carcinoma	Uncertain significance; Benign; Likely benign	rs149640294, rs11302	RCV005893022 RCV005893026
Lung cancer	Benign; Likely benign	rs11302	RCV005893040
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs11302	RCV005893031
Malignant tumor of esophagus	Benign; Likely benign	rs11302	RCV005893027
Melanoma	Benign; Likely benign	rs11302	RCV005893039
Microcephaly	Uncertain significance	rs766745943	RCV000626899
Ovarian serous cystadenocarcinoma	Uncertain significance; Benign; Likely benign	rs149640294, rs11302	RCV005893023 RCV005893035
Sarcoma	Benign; Likely benign	rs11302	RCV005893033
See cases	Uncertain significance	rs772211654	RCV002252569
Severe global developmental delay	Uncertain significance	rs766745943	RCV000626899
Thymoma	Benign; Likely benign	rs11302	RCV005893037
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs11302	RCV005893038
Uterine carcinosarcoma	Benign; Likely benign	rs11302	RCV005893036
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs11302	RCV005893041

Show/Hide Text Mining Associations (24)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	30323337, 34282517
Carcinogenesis	Associate	2303035
Carcinoma Hepatocellular	Associate	34677006
Cholestasis	Associate	34677006
Demyelinating Diseases	Associate	9077532
Drug Related Side Effects and Adverse Reactions	Associate	16339578
Dykes Markes Harper syndrome	Associate	34677006
Glutathionuria	Associate	34677006
Infertility Male	Associate	31103287
Leukemia	Associate	22491738
Leukemia Monocytic Acute	Associate	10765922
Leukemia T Cell	Associate	2303035
Liver Cirrhosis	Associate	15115436
Liver Diseases	Associate	34677006
Lymphoma T Cell	Associate	14504110
Multiple Sclerosis	Associate	16339578, 9077532
Obesity	Associate	19056584
Ovarian Neoplasms	Associate	26884841
POEMS Syndrome	Associate	22994759
Polycystic Ovary Syndrome	Associate	34480296
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	39984035, 9432040, 9695959
Squamous Cell Carcinoma of Head and Neck	Associate	18805652
Stomach Neoplasms	Associate	22468085
Transaldolase Deficiency	Inhibit	11283793, 15115436

TALDO1 (transaldolase 1)