InnateDB Protein
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IDBP-42313.7
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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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IDH3B
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Protein Name
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isocitrate dehydrogenase 3 (NAD+) beta
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Synonyms
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H-IDHB; RP46;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000370232
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InnateDB Gene
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IDBG-42307 (IDH3B)
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Protein Structure
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Function |
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Subcellular Localization |
Mitochondrion.
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Disease Associations |
Retinitis pigmentosa 46 (RP46) [MIM:612572]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269PubMed:18806796}. 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 12 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated |
Total |
12
[view]
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Protein-Protein |
9
[view]
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Protein-DNA |
3
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
2 [view]
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Molecular Function |
Accession |
GO Term |
GO:0000287
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magnesium ion binding
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GO:0004449
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isocitrate dehydrogenase (NAD+) activity
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GO:0009055
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electron carrier activity
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GO:0016616
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oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
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GO:0051287
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NAD binding
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR004434
Isocitrate dehydrogenase NAD-dependent
IPR024084
Isopropylmalate dehydrogenase-like domain
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PFAM |
PF00180
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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 |
O43837
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PhosphoSite |
PhosphoSite-O43837
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TrEMBL |
B4DU38
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UniProt Splice Variant |
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Entrez Gene |
3420
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UniGene |
Hs.667359
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RefSeq |
NP_777280
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HUGO |
HGNC:5385
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OMIM |
604526
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CCDS |
CCDS13031
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HPRD |
05163
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IMGT |
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EMBL |
AF023265
AF023266
AK001905
AK300485
AK315641
AL049712
AL050094
BC001960
CH471133
U49283
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GenPept |
AAB94295
AAD09339
AAD09340
AAH01960
BAA91971
BAG38008
BAG62200
CAB43266
CAC01442
CAC01443
EAX10579
EAX10580
EAX10582
EAX10583
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