TALDO1 (transaldolase 1)

Gene

• Entrez ID: 6888
• Gene name: Transaldolase 1
• Gene symbol: TALDO1
• Synonyms: 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	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

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

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Asthma	Asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hydrops fetalis	Hydrops Fetalis	rs28935477, rs1131691986
Pancytopenia	Pancytopenia	rs869312883, rs770551610, rs1131690788, rs530073586, rs374333820
Parkinson disease	Parkinson Disease	rs116074753, rs118203903, rs118203904, rs115735611, rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs74315361, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121917767, rs121918104, rs1589451049, rs104893877, rs104893878, rs283413, rs112176450, rs111290936, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs387906942, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106	23233872
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Unknown
Disease name	Disease term	dbSNP ID	References
Aortic coarctation	Aortic coarctation
Biventricular hypertrophy	Biventricular hypertrophy
Cirrhosis	Cirrhosis	rs119465999, rs144369314, rs8056684, rs112053857, rs75998507
Hypertrophy of clitoris	Hypertrophy of clitoris
Liver carcinoma	Liver carcinoma		19436114
Liver fibrosis	Fibrosis, Liver
Macrostomia	Macrostomia
Micronodular cirrhosis	Micronodular cirrhosis
Multicystic renal dysplasia	Congenital anomaly of the kidney
Patent foramen ovale	Foramen Ovale, Patent
Synophrys	Synophrys
Transaldolase deficiency	Transaldolase Deficiency		18331807, 24097415, 23315216, 21119539, 25388407