Homo sapiens Protein: IDH3B
Summary
InnateDB Protein IDBP-42311.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol IDH3B
Protein Name isocitrate dehydrogenase 3 (NAD+) beta
Synonyms H-IDHB; RP46;
Species Homo sapiens
Ensembl Protein ENSP00000370223
InnateDB Gene IDBG-42307 (IDH3B)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Mitochondrion.
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.
Tissue Specificity
Comments
Interactions
Number of Interactions 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]
Protein-Protein 9 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000287 magnesium ion binding
GO:0004449 isocitrate dehydrogenase (NAD+) activity
GO:0009055 electron carrier activity
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
GO:0051287 NAD binding
Biological Process
GO:0006099 tricarboxylic acid cycle
GO:0006102 isocitrate metabolic process
GO:0006103 2-oxoglutarate metabolic process
GO:0006734 NADH metabolic process
GO:0044237 cellular metabolic process
GO:0044281 small molecule metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
Protein Structure and Domains
PDB ID
InterPro IPR004434 Isocitrate dehydrogenase NAD-dependent
IPR024084 Isopropylmalate dehydrogenase-like domain
PFAM PF00180
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt O43837
PhosphoSite PhosphoSite-O43837
TrEMBL Q9UIC5
UniProt Splice Variant
Entrez Gene 3420
UniGene Hs.667359
RefSeq NP_008830
HUGO HGNC:5385
OMIM 604526
CCDS CCDS13032
HPRD 05163
IMGT
EMBL AF023265 AF023266 AF046929 AK001905 AK300485 AK315641 AL049712 AL050094 BC001960 CH471133 U49283
GenPept AAB94295 AAD09339 AAD09340 AAF20164 AAH01960 BAA91971 BAG38008 BAG62200 CAB43266 CAC01442 CAC01443 EAX10579 EAX10580 EAX10582 EAX10583