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

J. Inherit. Metab. Dis. 2005
External Reference Information
External Reference
UniProt:P37837 TALDO1
Gene Names
TALDO1, transaldolase 1, 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:0003824
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:0043226
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
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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