IDH3B
Isocitrate dehydrogenase [NAD] subunit beta, mitochondrial
Also known as: IDH3B_HUMAN, RP46
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O43837
- Gene
- IDH3B
- Ensembl
- ENSG00000101365
- Chromosome
- 20
- Canonical length
- 385 aa
- Protein class
- Citric acid cycle related proteins, Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Mitochondria
OverviewNCBI Gene
Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the beta subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2016]
Canonical amino-acid sequenceUniProt
385 residues, UniProt reviewed canonical sequence.
>O43837|IDH3B
1 MAALSGVRWL TRALVSAGNP GAWRGLSTSA AAHAASRSQA EDVRVEGSFP VTMLPGDGVG
61 PELMHAVKEV FKAAAVPVEF QEHHLSEVQN MASEEKLEQV LSSMKENKVA IIGKIHTPME
121 YKGELASYDM RLRRKLDLFA NVVHVKSLPG YMTRHNNLDL VIIREQTEGE YSSLEHESAR
181 GVIECLKIVT RAKSQRIAKF AFDYATKKGR GKVTAVHKAN IMKLGDGLFL QCCEEVAELY
241 PKIKFETMII DNCCMQLVQN PYQFDVLVMP NLYGNIIDNL AAGLVGGAGV VPGESYSAEY
301 AVFETGARHP FAQAVGRNIA NPTAMLLSAS NMLRHLNLEY HSSMIADAVK KVIKVGKVRT
361 RDMGGYSTTT DFIKSVIGHL QTKGSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against IDH3B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.3
- Highest tissue expression
- 221 nTPM
Expression across tissuesHPA
Tissue
- tongue: 221 nTPM
- skeletal muscle: 191 nTPM
- heart muscle: 176 nTPM
- cerebellum: 78 nTPM
- parathyroid gland: 71 nTPM
- duodenum: 70 nTPM
Single-cell type
- late spermatids: 169 nCPM
- esophageal basal cells: 168 nCPM
- cytotrophoblasts: 157 nCPM
- migrating cytotrophoblasts: 142 nCPM
- esophageal suprabasal cells: 141 nCPM
- parietal cells: 131 nCPM
Immune cell
- myeloid DC: 132 nTPM
- intermediate monocyte: 121 nTPM
- classical monocyte: 112 nTPM
- non-classical monocyte: 111 nTPM
- T-reg: 108 nTPM
- total PBMC: 102 nTPM
Brain region
- cerebellum: 64 nTPM
- pons: 62 nTPM
- medulla oblongata: 58 nTPM
- cerebral cortex: 57 nTPM
- thalamus: 55 nTPM
- hypothalamus: 55 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about IDH3B.
Disease | AllUniProt
Conditions IDH3B is implicated in, by any mechanism.
- Retinitis pigmentosa 46 (RP46) MIM:612572
Disease | GeneticClinVar
23 pathogenic / likely-pathogenic of 367 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Retinitis pigmentosa 46
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.26
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.42
- DepMap mean gene effect
- -0.01
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads IDH3B as an antibody target. Whether an autoantibody or antibody against IDH3B could matter depends on whether native IDH3B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
IDH3B is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label IDH3B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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