TALDO1 R192H [cytosol]

Stable Identifier
R-HSA-5659979
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
transaldolase 1 R192H
TALDO1 R192H [cytosol] icon
Locations in the PathwayBrowser
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
Gene Names
TALDO1, TAL, TALDO, TALDOR
Chain
chain:1-337
Reference Transcript
Other Identifiers
0003190148
11715447_at
16720318
201463_s_at
3316212
3316215
3316216
3316217
3316218
3316221
3316222
3316224
3316225
3316226
3316227
37311_at
6888
7937465
A_23_P44993
A_24_P81740
GE58421
GO:0003674
GO:0003824
GO:0004801
GO:0005515
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005634
GO:0005737
GO:0005829
GO:0005975
GO:0005999
GO:0006002
GO:0006091
GO:0006098
GO:0007165
GO:0008150
GO:0009052
GO:0009058
GO:0016740
GO:0019682
GO:0030246
GO:0035722
GO:0043226
GO:0043231
GO:0044281
GO:0048029
GO:0070062
HMNXSV003056231
ILMN_1746588
L19437_at
PH_hs_0025684
TC11000027.hg
g5803186_3p_a_at
Participates
Other forms of this molecule
Modified Residues
Name
L-arginine 192 replaced with L-histidine
Coordinate
192
PsiMod
A protein modification that effectively converts a source amino acid residue to an L-histidine.
A protein modification that effectively removes or replaces an L-arginine.
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
OpenTargets
GeneCards
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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