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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6888
Gene name Gene Name - the full gene name approved by the HGNC.	Transaldolase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TALDO1
Synonyms (NCBI Gene) Gene synonyms aliases	TAL, TAL-H, TALDOR, TALH
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11p15.5
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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

Transcription factors

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Transcription factor	Regulation	Reference
ZNF143	Unknown	14702349
ZNF76	Unknown	14702349

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GO ID	Ontology	Definition	Evidence	Reference
GO:0004801	Function	Sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	21044950, 25854864, 32814053
GO:0005622	Component	Intracellular anatomical structure	IBA	21873635
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	TAS	16130169
GO:0005829	Component	Cytosol	TAS
GO:0005975	Process	Carbohydrate metabolic process	TAS	9524206
GO:0005999	Process	Xylulose biosynthetic process	TAS
GO:0006002	Process	Fructose 6-phosphate metabolic process	IEA
GO:0006098	Process	Pentose-phosphate shunt	TAS
GO:0009052	Process	Pentose-phosphate shunt, non-oxidative branch	IBA	21873635
GO:0019682	Process	Glyceraldehyde-3-phosphate metabolic process	IEA
GO:0035722	Process	Interleukin-12-mediated signaling pathway	TAS
GO:0048029	Function	Monosaccharide binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337, 23533145

MIM	HGNC	e!Ensembl
602063	11559	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

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

Show/Hide Causal Diseases (8)

Disease term	Disease name	dbSNP ID	References
Causal
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966 View all (89 more)
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074 View all (25 more)
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Hydrops fetalis	Hydrops Fetalis	rs28935477, rs1131691986
Pancytopenia	Pancytopenia	rs869312883, rs770551610, rs1131690788, rs530073586, rs374333820
Parkinson disease	Parkinson Disease	rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432 View all (84 more)	23233872
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Asthma	Asthma	ClinVar
Cirrhosis	Cirrhosis	ClinVar

Show/Hide Text Mining Associations (24)

Disease Name	Relationship Type	References
Associations from Text Mining
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)