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TALDO1 R192C [cytosol]
Stable Identifier
R-HSA-5659976
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
transaldolase 1 R192C
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of carbohydrate metabolism (Homo sapiens)
Pentose phosphate pathway disease (Homo sapiens)
TALDO1 deficiency: failed conversion of Fru(6)P, E4P to SH7P, GA3P (Homo sapiens)
Defective TALDO1 does not transform Fru(6)P, E4P to SH7P, GA3P (Homo sapiens)
TALDO1 mutant dimers [cytosol] (Homo sapiens)
TALDO1 R192C dimer [cytosol] (Homo sapiens)
TALDO1 R192C [cytosol] (Homo sapiens)
TALDO1 deficiency: failed conversion of SH7P, GA3P to Fru(6)P, E4P (Homo sapiens)
Defective TALDO1 does not transform SH7P, GA3P to Fru(6)P, E4P (Homo sapiens)
TALDO1 mutant dimers [cytosol] (Homo sapiens)
TALDO1 R192C dimer [cytosol] (Homo sapiens)
TALDO1 R192C [cytosol] (Homo sapiens)
Literature References
PubMed ID
Title
Journal
Year
18331807
Transaldolase deficiency in a two-year-old boy with cirrhosis
Wamelink, MM
,
Fowler, D
,
Salomons, GS
,
Clayton, PT
,
Struys, EA
,
Jakobs, C
Mol. Genet. Metab.
2008
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
ENSEMBL_homo_sapiens_GENE:ENSG00000177156.11 TALDO1
HGNC:11559 TALDO1
KEGG Gene (Homo sapiens):6888 TALDO1
Monarch:6888 TALDO1
NCBI Gene:6888 TALDO1
OMIM:602063 TALDO1
UCSC:P37837 TALDO1
Reference Transcript
RefSeq:NM_006755.1 TALDO1
Other Identifiers
11715447_at
16720318
201463_PM_s_at
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:0003824
GO:0004801
GO:0005515
GO:0005576
GO:0005615
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_1746588
L19437_at
PH_hs_0025684
TC11000027.hg
g5803186_3p_a_at
Participates
as a component of
TALDO1 R192C dimer [cytosol] (Homo sapiens)
Other forms of this molecule
TALDO1 R192H [cytosol]
TALDO1 S171F [cytosol]
TALDO1 [cytosol]
Modified Residues
Name
L-arginine 192 replaced with L-cysteine
Coordinate
192
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-cysteine residue [MOD:00014]
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
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
NP_006746.1
OpenTargets
ENSG00000177156
HPA
ENSG00000177156-TALDO1
GeneCards
P37837
Ensembl
ENST00000319006
,
ENSG00000177156
,
ENSP00000321259
PRO
P37837
Pharos - Targets
P37837
Orphanet
18350
PDB
1F05
HMDB Protein
HMDBP00802
Interactors (2)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P42858 HTT
1
HTT [nucleoplasm]
(R-HSA-9023590)
0.556
3
UniProt:Q9NYB0 TERF2IP
1
TERF2IP [nucleoplasm]
(R-HSA-174873)
0.508
2
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