TALDO1 R192H [cytosol]

Stable Identifier
R-HSA-5659979
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
transaldolase 1 R192H
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
ILMN_1746588
L19437_at
PH_hs_0025684
TC11000027.hg
g5803186_3p_a_at
Participant Of
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 2978 disorder of carbohydrate transport and metabolism, inborn errors of carbohydrate metabolism, inborn carbohydrate metabolism disorder
Cross References
RefSeq
Target Pathogen
OpenTargets
GeneCards
PRO
Orphanet
HMDB Protein
PDB
Interactors (1)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q9NYB0 TERF2IP  1 0.508 2
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