InnateDB Protein
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IDBP-25502.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ALDOA
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Protein Name
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aldolase A, fructose-bisphosphate
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Synonyms
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ALDA; GSD12; HEL-S-87p;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000336927
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InnateDB Gene
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IDBG-25500 (ALDOA)
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Protein Structure
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Function |
Plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding protein (By similarity). {ECO:0000250}.
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Subcellular Localization |
Cytoplasm, myofibril, sarcomere, I band. Cytoplasm, myofibril, sarcomere, M line. Note=In skeletal muscle, accumulates around the M line and within the I band, colocalizing with FBP2 on both sides of the Z line in the absence of Ca(2+). {ECO:0000250}.
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Disease Associations |
Glycogen storage disease 12 (GSD12) [MIM:611881]: A metabolic disorder associated with increased hepatic glycogen and hemolytic anemia. It may lead to myopathy with exercise intolerance and rhabdomyolysis. {ECO:0000269PubMed:14615364, ECO:0000269PubMed:14766013, ECO:0000269PubMed:2825199, ECO:0000269PubMed:8598869}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 63 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.
Experimentally validated |
Total |
63
[view]
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Protein-Protein |
62
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
1
[view]
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
8 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000741
Fructose-bisphosphate aldolase, class-I
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PFAM |
PF00274
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P04075
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PhosphoSite |
PhosphoSite-P04075
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TrEMBL |
V9HWN7
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UniProt Splice Variant |
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Entrez Gene |
226
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UniGene |
Hs.513490
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RefSeq |
NP_000025
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HUGO |
HGNC:414
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OMIM |
103850
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CCDS |
CCDS10668
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HPRD |
00070
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IMGT |
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EMBL |
AC093512
AK301993
BC000367
BC004333
BC010660
BC012880
BC013614
BC015888
BC016170
BC016800
CH471238
CR536528
CR541880
EF036496
FJ474908
M11560
M21190
X05236
X12447
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GenPept |
AAA51690
AAA51697
AAH00367
AAH04333
AAH10660
AAH12880
AAH13614
AAH15888
AAH16170
AAH16800
ABO65082
ACQ91105
BAG63399
CAA28861
CAA30979
CAG38765
CAG46678
EAW79933
EAW79934
EAW79935
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