TALDO1 R192H [cytosol]

Stable Identifier
R-HSA-5659979
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
transaldolase 1 R192H
Icon
TALDO1 R192H [cytosol] icon
TALDO1 R192H [cytosol] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
15877206 A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency

Verhoeven, NM, Wallot, M, Huck, JHJ, Dirsch, O, Ballauf, A, Neudorf, U, Salomons, GS, van der Knaap, MS, Voit, T, Jakobs, C

J. Inherit. Metab. Dis. 2005
External Reference Information
External Reference
UniProt:P37837 TALDO1
Gene Names
TALDO1, TAL, TALDO, TALDOR
Chain
chain:1-337
Reference Genes
BioGPS Gene:6888 TALDO1
COSMIC (genes):TALDO1 TALDO1
CTD Gene:6888 TALDO1
dbSNP Gene:6888 TALDO1
ENSEMBL:ENSG00000177156 TALDO1
HGNC:11559 TALDO1
KEGG:hsa:6888 TALDO1
Monarch:6888 TALDO1
NCBI Gene:6888 TALDO1
OMIM:602063 TALDO1
UCSC:P37837 TALDO1
Reference Transcript
Other Identifiers
11715447_at
11761067_at
16720318
201463_PM_s_at
201463_s_at
3316210
3316211
3316212
3316213
3316214
3316215
3316216
3316217
3316218
3316219
3316221
3316222
3316223
3316224
3316225
3316226
3316227
37311_at
6888
7937465
A_23_P44993
A_24_P81740
GE58421
GO:0004801
GO:0005515
GO:0005634
GO:0005737
GO:0005829
GO:0005975
GO:0006002
GO:0006091
GO:0006098
GO:0009052
GO:0016740
GO:0019682
GO:0030246
GO:0048029
GO:0055086
GO:0070062
GO:1901135
HMNXSV003056231
ILMN_1670998
ILMN_1746588
L19437_at
PH_hs_0025684
TC11000027.hg
g5803186_3p_a_at
Participates
as a component of
Other forms of this molecule
TALDO1 R192C [cytosol]
TALDO1 S171F [cytosol]
TALDO1 [cytosol]
Modified Residues
Name
L-arginine 192 replaced with L-histidine
Coordinate
192
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-histidine residue [MOD:00018]
A protein modification that effectively converts a source amino acid residue to an L-histidine.
Disease
Name Identifier Synonyms
carbohydrate metabolic disorder DOID:2978 disorder of carbohydrate transport and metabolism, inborn errors of carbohydrate metabolism, inborn carbohydrate metabolism disorder
Cross References
RefSeq
ENSEMBL
OpenTargets
Mondo
GeneCards
HPA
PRO
Pharos - Targets
GlyGen
Orphanet
HMDB Protein
PDB
Interactors (2)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P42858 HTT  1 0.556 3
 UniProt:Q9NYB0 TERF2IP  1 0.508 2
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