ALDOB A174D [cytosol]

Stable Identifier
R-HSA-5656456
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
Fructose-bisphosphate aldolase B A174D, Liver-type aldolase A174D
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
1967768 Molecular analysis of aldolase B genes in hereditary fructose intolerance

Odièvre, M, Sebastio, G, Cox, TM, de Franchis, R, Mascali, G, Romano, C, Vidailhet, M, Dazzo, C, Romano, V, Cross, NC, Gregori, C, Tolan, DR, Steinmann, B, Gitzelmann, R, Musumeci, S

Lancet 1990
External Reference Information
External Reference
UniProt:P05062 ALDOB
Gene Names
ALDOB, ALDB
Chain
initiator methionine:, chain:2-364
Reference Genes
BioGPS Gene:229 ALDOB
COSMIC (genes):ALDOB ALDOB
CTD Gene:229 ALDOB
dbSNP Gene:229 ALDOB
ENSEMBL:ENSG00000136872 ALDOB
ENSEMBL_homo_sapiens_GENE:ENSG00000136872.21 ALDOB
HGNC:417 ALDOB
KEGG Gene (Homo sapiens):229 ALDOB
Monarch:229 ALDOB
NCBI Gene:229 ALDOB
OMIM:612724 ALDOB
UCSC:P05062 ALDOB
Reference Transcript
Other Identifiers
11739162_a_at
11739163_a_at
11750289_a_at
11750290_x_at
17096640
204704_PM_s_at
204704_s_at
204705_PM_x_at
204705_x_at
211357_PM_s_at
211357_s_at
217238_PM_s_at
217238_s_at
229
3218080
3218081
3218082
3218083
3218084
3218089
3218090
3218091
3218092
3218093
3218095
3218096
3218097
3218098
3218100
3218101
3218102
3218103
3218106
3218109
3218110
33455_at
77417_at
8162884
A_23_P32143
A_23_P415974
GE80880
GO:0003824
GO:0004332
GO:0005515
GO:0005576
GO:0005615
GO:0005737
GO:0005815
GO:0005829
GO:0005856
GO:0005975
GO:0006000
GO:0006001
GO:0006091
GO:0006094
GO:0006096
GO:0006116
GO:0008092
GO:0016829
GO:0030388
GO:0032781
GO:0034451
GO:0042802
GO:0043226
GO:0051117
GO:0055086
GO:0060090
GO:0061609
GO:0061624
GO:0065003
GO:0070061
GO:0070062
GO:0070072
GO:1901135
GO:1905856
HMNXSV003053752
Hs.234234.0.S2_3p_at
ILMN_1747716
M15656_at
TC09001421.hg
g4557306_3p_a_at
Participates
as a component of
Other forms of this molecule
ALDOB A149P [cytosol]
ALDOB [cytosol]
Modified Residues
Name
L-alanine 174 replaced with L-aspartic acid
Coordinate
174
PsiMod
L-aspartic acid residue [MOD:00013]
A protein modification that effectively converts a source amino acid residue to an L-aspartic acid.
L-alanine removal [MOD:01631]
A protein modification that effectively removes or replaces an L-alanine.
Disease
Name Identifier Synonyms
hereditary fructose intolerance syndrome DOID:9869 Fructosemia, Fructose-1,6-bisphosphate aldolase B deficiency, Fructosaemia
Cross References
RefSeq
OpenTargets
GeneCards
HPA
Ensembl
PRO
Pharos - Targets
Orphanet
PDB
HMDB Protein
Interactors (4)
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