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Protein

Isocitrate dehydrogenase [NAD] subunit beta, mitochondrial

Gene

IDH3B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Plays a structural role to facilitate the assembly and ensure the full activity of the enzyme catalyzing the decarboxylation of isocitrate (ICT) into alpha-ketoglutarate. The heterodimer composed of the alpha (IDH3A) and beta (IDH3B) subunits and the heterodimer composed of the alpha (IDH3A) and gamma (IDH3G) subunits, have considerable basal activity but the full activity of the heterotetramer (containing two subunits of IDH3A, one of IDH3B and one of IDH3G) requires the assembly and cooperative function of both heterodimers.1 Publication

<p>This subsection of the ‘Function’ section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

The heterotetramer and the heterodimer composed of IDH3A and IDH3G subunits can be allosterically activated by citrate (CIT) or/and ADP, and the two activators can act independently or synergistically. The heterodimer composed of IDH3A and IDH3B subunits cannot be allosterically regulated and the allosteric regulation of the heterotetramer is through the IDH3G subunit and not the IDH3B subunit. The IDH3G subunit contains the allosteric site which consists of a CIT-binding site and an ADP-binding site, and the binding of CIT and ADP causes conformational changes at the allosteric site which are transmitted to the active site in the catalytic subunit (IDH3A) through a cascade of conformational changes at the heterodimer interface, leading to stabilization of the isocitrate-binding at the active site and thus activation of the enzyme. ATP can activate the heterotetramer and the heterodimer composed of IDH3A and IDH3G subunits at low concentrations but inhibits their activities at high concentrations, whereas ATP exhibits only inhibitory effect on the heterodimer composed of IDH3A and IDH3B subunits.2 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processTricarboxylic acid cycle

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:ENSG00000101365-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
1.1.1.41 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-71403 Citric acid cycle (TCA cycle)

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
O43837

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Isocitrate dehydrogenase [NAD] subunit beta, mitochondrial
Alternative name(s):
Isocitric dehydrogenase subunit beta
NAD(+)-specific ICDH subunit beta
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:IDH3B
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 20

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000101365.20

Human Gene Nomenclature Database

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HGNCi
HGNC:5385 IDH3B

Online Mendelian Inheritance in Man (OMIM)

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MIMi
604526 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O43837

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Retinitis pigmentosa 46 (RP46)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:612572
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_054851132L → P in RP46. 1 PublicationCorresponds to variant dbSNP:rs137853020EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNET

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DisGeNETi
3420

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
IDH3B

MalaCards human disease database

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MalaCardsi
IDH3B
MIMi612572 phenotype

Open Targets

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OpenTargetsi
ENSG00000101365

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
791 Retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA29633

Chemistry databases

Drug and drug target database

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DrugBanki
DB00157 NADH

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
IDH3B

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 34MitochondrionBy similarityAdd BLAST34
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001444435 – 385Isocitrate dehydrogenase [NAD] subunit beta, mitochondrialAdd BLAST351

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei199N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O43837

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O43837

MaxQB - The MaxQuant DataBase

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MaxQBi
O43837

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
O43837

PeptideAtlas

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PeptideAtlasi
O43837

PRoteomics IDEntifications database

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PRIDEi
O43837

ProteomicsDB human proteome resource

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ProteomicsDBi
49197
49198 [O43837-2]
49199 [O43837-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O43837

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
O43837

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000101365 Expressed in 233 organ(s), highest expression level in heart left ventricle

CleanEx database of gene expression profiles

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CleanExi
HS_IDH3B

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O43837 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O43837 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA049387
HPA054180

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterooligomer of subunits alpha (IDH3A), beta (IDH3B), and gamma (IDH3G) in the apparent ratio of 2:1:1. The heterodimer containing one IDH3A and one IDH3B subunit and the heterodimer containing one IDH3A and one IDH3G subunit assemble into a heterotetramer (which contains two subunits of IDH3A, one of IDH3B and one of IDH3G) and further into the heterooctamer.1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
109646, 40 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-553 Mitochondrial isocitrate dehydrogenase complex (NAD+)

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
O43837

Protein interaction database and analysis system

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IntActi
O43837, 21 interactors

Molecular INTeraction database

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MINTi
O43837

STRING: functional protein association networks

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STRINGi
9606.ENSP00000370223

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O43837

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O43837

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0784 Eukaryota
COG0473 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000153381

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG052080

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O43837

KEGG Orthology (KO)

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KOi
K00030

Database of Orthologous Groups

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OrthoDBi
868374at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O43837

TreeFam database of animal gene trees

More...
TreeFami
TF315033

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR019818 IsoCit/isopropylmalate_DH_CS
IPR004434 Isocitrate_DH_NAD
IPR024084 IsoPropMal-DH-like_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00180 Iso_dh, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM01329 Iso_dh, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00175 mito_nad_idh, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00470 IDH_IMDH, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform B (identifier: O43837-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAALSGVRWL TRALVSAGNP GAWRGLSTSA AAHAASRSQA EDVRVEGSFP
60 70 80 90 100
VTMLPGDGVG PELMHAVKEV FKAAAVPVEF QEHHLSEVQN MASEEKLEQV
110 120 130 140 150
LSSMKENKVA IIGKIHTPME YKGELASYDM RLRRKLDLFA NVVHVKSLPG
160 170 180 190 200
YMTRHNNLDL VIIREQTEGE YSSLEHESAR GVIECLKIVT RAKSQRIAKF
210 220 230 240 250
AFDYATKKGR GKVTAVHKAN IMKLGDGLFL QCCEEVAELY PKIKFETMII
260 270 280 290 300
DNCCMQLVQN PYQFDVLVMP NLYGNIIDNL AAGLVGGAGV VPGESYSAEY
310 320 330 340 350
AVFETGARHP FAQAVGRNIA NPTAMLLSAS NMLRHLNLEY HSSMIADAVK
360 370 380
KVIKVGKVRT RDMGGYSTTT DFIKSVIGHL QTKGS
Length:385
Mass (Da):42,184
Last modified:May 1, 2007 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i7324E6CC30A68EE2
GO
Isoform A (identifier: O43837-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     361-385: RDMGGYSTTTDFIKSVIGHLQTKGS → SDMGGYATCHDFTEAVIAALPHP

Show »
Length:383
Mass (Da):41,887
Checksum:i6B5A3D3F82CCDB34
GO
Isoform C (identifier: O43837-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-177: MAALSGVRWL...EGEYSSLEHE → MKMGERWSSLFPFPVSPSCCFLLTQ

Show »
Length:233
Mass (Da):25,555
Checksum:i7036C0A641A17E2D
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WZN1A0A087WZN1_HUMAN
Isocitrate dehydrogenase [NAD] subu...
IDH3B hCG_39616
387Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087X2E5A0A087X2E5_HUMAN
Isocitrate dehydrogenase [NAD] subu...
IDH3B
376Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SG66A0A0D9SG66_HUMAN
Isocitrate dehydrogenase [NAD] subu...
IDH3B
145Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SET9A0A0D9SET9_HUMAN
Isocitrate dehydrogenase [NAD] subu...
IDH3B
83Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti127 – 130SYDM → RTLV in CAB43266 (PubMed:17974005).Curated4
Sequence conflicti250I → V in BAA91971 (PubMed:14702039).Curated1
Sequence conflicti385S → SNL in AAD09340 (PubMed:10601238).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0226603A → V1 PublicationCorresponds to variant dbSNP:rs3178817Ensembl.1
Natural variantiVAR_054851132L → P in RP46. 1 PublicationCorresponds to variant dbSNP:rs137853020EnsemblClinVar.1
Natural variantiVAR_049781166Q → H. Corresponds to variant dbSNP:rs11542741Ensembl.1
Natural variantiVAR_056005360T → A. Corresponds to variant dbSNP:rs8296Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0413351 – 177MAALS…SLEHE → MKMGERWSSLFPFPVSPSCC FLLTQ in isoform C. 1 PublicationAdd BLAST177
Alternative sequenceiVSP_002462361 – 385RDMGG…QTKGS → SDMGGYATCHDFTEAVIAAL PHP in isoform A. 1 PublicationAdd BLAST25

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
U49283 mRNA Translation: AAB94295.1
AF023265 mRNA Translation: AAD09339.1
AF023266 mRNA Translation: AAD09340.1
AK001905 mRNA Translation: BAA91971.1
AK315641 mRNA Translation: BAG38008.1
AL049712 Genomic DNA No translation available.
CH471133 Genomic DNA Translation: EAX10579.1
CH471133 Genomic DNA Translation: EAX10580.1
CH471133 Genomic DNA Translation: EAX10582.1
CH471133 Genomic DNA Translation: EAX10583.1
BC001960 mRNA Translation: AAH01960.1
AL050094 mRNA Translation: CAB43266.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS13031.1 [O43837-2]
CCDS13032.1 [O43837-1]

Protein sequence database of the Protein Information Resource

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PIRi
T08743
T13147

NCBI Reference Sequences

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RefSeqi
NP_001317692.1, NM_001330763.1
NP_008830.2, NM_006899.4 [O43837-1]
NP_777280.1, NM_174855.3 [O43837-2]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.436405

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000380843; ENSP00000370223; ENSG00000101365 [O43837-1]
ENST00000380851; ENSP00000370232; ENSG00000101365 [O43837-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
3420

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:3420

UCSC genome browser

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UCSCi
uc002wgp.4 human [O43837-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U49283 mRNA Translation: AAB94295.1
AF023265 mRNA Translation: AAD09339.1
AF023266 mRNA Translation: AAD09340.1
AK001905 mRNA Translation: BAA91971.1
AK315641 mRNA Translation: BAG38008.1
AL049712 Genomic DNA No translation available.
CH471133 Genomic DNA Translation: EAX10579.1
CH471133 Genomic DNA Translation: EAX10580.1
CH471133 Genomic DNA Translation: EAX10582.1
CH471133 Genomic DNA Translation: EAX10583.1
BC001960 mRNA Translation: AAH01960.1
AL050094 mRNA Translation: CAB43266.1
CCDSiCCDS13031.1 [O43837-2]
CCDS13032.1 [O43837-1]
PIRiT08743
T13147
RefSeqiNP_001317692.1, NM_001330763.1
NP_008830.2, NM_006899.4 [O43837-1]
NP_777280.1, NM_174855.3 [O43837-2]
UniGeneiHs.436405

3D structure databases

ProteinModelPortaliO43837
SMRiO43837
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109646, 40 interactors
ComplexPortaliCPX-553 Mitochondrial isocitrate dehydrogenase complex (NAD+)
CORUMiO43837
IntActiO43837, 21 interactors
MINTiO43837
STRINGi9606.ENSP00000370223

Chemistry databases

DrugBankiDB00157 NADH

PTM databases

iPTMnetiO43837
PhosphoSitePlusiO43837

Polymorphism and mutation databases

BioMutaiIDH3B

Proteomic databases

EPDiO43837
jPOSTiO43837
MaxQBiO43837
PaxDbiO43837
PeptideAtlasiO43837
PRIDEiO43837
ProteomicsDBi49197
49198 [O43837-2]
49199 [O43837-3]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
3420
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000380843; ENSP00000370223; ENSG00000101365 [O43837-1]
ENST00000380851; ENSP00000370232; ENSG00000101365 [O43837-2]
GeneIDi3420
KEGGihsa:3420
UCSCiuc002wgp.4 human [O43837-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
3420
DisGeNETi3420
EuPathDBiHostDB:ENSG00000101365.20

GeneCards: human genes, protein and diseases

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GeneCardsi
IDH3B
GeneReviewsiIDH3B
HGNCiHGNC:5385 IDH3B
HPAiHPA049387
HPA054180
MalaCardsiIDH3B
MIMi604526 gene
612572 phenotype
neXtProtiNX_O43837
OpenTargetsiENSG00000101365
Orphaneti791 Retinitis pigmentosa
PharmGKBiPA29633

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0784 Eukaryota
COG0473 LUCA
GeneTreeiENSGT00940000153381
HOVERGENiHBG052080
InParanoidiO43837
KOiK00030
OrthoDBi868374at2759
PhylomeDBiO43837
TreeFamiTF315033

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000101365-MONOMER
BRENDAi1.1.1.41 2681
ReactomeiR-HSA-71403 Citric acid cycle (TCA cycle)
SABIO-RKiO43837

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
IDH3B human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
IDH3B

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
3420

Protein Ontology

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PROi
PR:O43837

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000101365 Expressed in 233 organ(s), highest expression level in heart left ventricle
CleanExiHS_IDH3B
ExpressionAtlasiO43837 baseline and differential
GenevisibleiO43837 HS

Family and domain databases

InterProiView protein in InterPro
IPR019818 IsoCit/isopropylmalate_DH_CS
IPR004434 Isocitrate_DH_NAD
IPR024084 IsoPropMal-DH-like_dom
PfamiView protein in Pfam
PF00180 Iso_dh, 1 hit
SMARTiView protein in SMART
SM01329 Iso_dh, 1 hit
TIGRFAMsiTIGR00175 mito_nad_idh, 1 hit
PROSITEiView protein in PROSITE
PS00470 IDH_IMDH, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiIDH3B_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O43837
Secondary accession number(s): B2RDR1
, D3DVX2, D3DVX3, O95106, Q5JXS8, Q9NQ06, Q9NQ07, Q9NUZ0, Q9UEX0, Q9UG99
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: May 1, 2007
Last modified: January 16, 2019
This is version 194 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
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