TALDO1 R192H

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
00030+2.2.1.2
0003190148
11715447_at
16720318
1F05
201463_s_at
3316210
3316211
3316212
3316215
3316216
3316217
3316218
3316221
3316222
3316224
3316225
3316226
3316227
37311_at
40373
48089
6888
7937465
A0A140VK56
A_23_P44993
A_24_P81740
AAB53943
AAC52068
AAF40478
AAH10103
AAH18847
AAL31313
AEE61193
AF010398
AF010399
AF010400
AF058913
AK313427
BAG36219
BC010103
BC018847
CCDS7712
ENSG00000177156
ENSP00000321259
ENST00000319006
EntrezGene:6888
g5803186_3p_a_at
GE58421
GO:0003674
GO:0003824
GO:0004801
GO:0005515
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005623
GO:0005634
GO:0005654
GO:0005737
GO:0005829
GO:0005975
GO:0005999
GO:0006002
GO:0006098
GO:0007165
GO:0008150
GO:0009052
GO:0009058
GO:0016740
GO:0019682
GO:0030246
GO:0034641
GO:0035722
GO:0043226
GO:0043231
GO:0044281
GO:0048029
GO:0051186
GO:0070062
HGNC:11559
HM005596
HPA040373
HPA048089
ILMN_1746588
IPR001585
IPR004730
IPR013785
IPR018225
L19437
L19437_at
L27346
MIM:602063
MIM:606003
NM_006755
NP_006746
PF00923
PH_hs_0025684
TALDO1
TALDO1-201
TC11000027.hg
uc001lqz.4
UPI00001114B0
Participant Of
Other forms of this molecule
Modified Residues
Name
L-arginine 192 replaced with L-histidine
Coordinate
192
PsiMod HEY
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
GeneCards
DOCK Blaster
PRO
BRENDA (Homo sapiens)
Orphanet
HMDB Protein
PDB
Interactors (1)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q9NYB0 TERF2IP  1 0.508 2