Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Charcot-Marie-Tooth disease X-linked dominant 6 | | ISO | PDK3 (Homo sapiens) | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Charcot-Marie-Tooth disease X-linked dominant 6 | | ISO | PDK3 (Homo sapiens) | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | Pyruvate dehydrogenase E1alpha phosphorylation is induced by glucose but does not control metabolism-secretion coupling in INS-1E clonal beta-cells. | Akhmedov D, etal., Biochim Biophys Acta. 2012 Oct;1823(10):1815-24. doi: 10.1016/j.bbamcr.2012.07.005. Epub 2012 Jul 15. |
2. | Marked differences between two isoforms of human pyruvate dehydrogenase kinase. | Baker JC, etal., J Biol Chem 2000 May 26;275(21):15773-81. |
3. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
4. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
5. | Regulation of mammalian pyruvate dehydrogenase complex by phosphorylation: complexity of multiple phosphorylation sites and kinases. | Patel MS and Korotchkina LG, Exp Mol Med. 2001 Dec 31;33(4):191-7. |
6. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
7. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
8. | Comprehensive gene review and curation | RGD comprehensive gene curation |
9. | Pyruvate dehydrogenase kinase regulatory mechanisms and inhibition in treating diabetes, heart ischemia, and cancer. | Roche TE and Hiromasa Y, Cell Mol Life Sci. 2007 Apr;64(7-8):830-49. |
PMID:11485553 | PMID:11486000 | PMID:12477932 | PMID:14651853 | PMID:15861126 | PMID:17669420 | PMID:18614015 | PMID:18718909 | PMID:20715114 | PMID:22865452 | PMID:32216531 |
Pdk3 (Rattus norvegicus - Norway rat) |
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PDK3 (Homo sapiens - human) |
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Pdk3 (Mus musculus - house mouse) |
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Pdk3 (Chinchilla lanigera - long-tailed chinchilla) |
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PDK3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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PDK3 (Canis lupus familiaris - dog) |
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Pdk3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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PDK3 (Sus scrofa - pig) |
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PDK3 (Chlorocebus sabaeus - green monkey) |
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Pdk3 (Heterocephalus glaber - naked mole-rat) |
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Variants in Pdk3
131 total Variants |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
DXGot133 |
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AI035637 |
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RH128023 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | |||||||||||||
Medium | 3 | 26 | 34 | 22 | 18 | 22 | 74 | 35 | 41 | 11 | |||
Low | 17 | 22 | 18 | 1 | 18 | 8 | 11 | 8 | |||||
Below cutoff | 1 | 1 | 1 |
RefSeq Transcripts | NM_001106581 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_006257018 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006257019 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006257020 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | BC169078 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
CH473966 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FQ216605 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000021 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000017370 ⟹ ENSRNOP00000017370 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000076652 ⟹ ENSRNOP00000068033 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001106581 ⟹ NP_001100051 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001100051 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAI69078 | (Get FASTA) | NCBI Sequence Viewer |
EDL96013 | (Get FASTA) | NCBI Sequence Viewer | |
EDL96014 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000017370 | ||
ENSRNOP00000017370.5 | |||
ENSRNOP00000068033.2 |
RefSeq Acc Id: | NP_001100051 ⟸ NM_001106581 |
- UniProtKB: | B5DFI9 (UniProtKB/TrEMBL), A6IPZ9 (UniProtKB/TrEMBL), A0A096MJ84 (UniProtKB/TrEMBL), F7EQX3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000017370 ⟸ ENSRNOT00000017370 |
RefSeq Acc Id: | ENSRNOP00000068033 ⟸ ENSRNOT00000076652 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-B5DFI9-F1-model_v2 | AlphaFold | B5DFI9 | 1-415 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13701843 | ||||||||
Promoter ID: | EPDNEW_R12362 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | Pdk3_1 | ||||||||
Description: | pyruvate dehydrogenase kinase 3 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | RGD:1593276 | AgrOrtholog |
BioCyc Gene | G2FUF-2261 | BioCyc |
Ensembl Genes | ENSRNOG00000012513 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000017370 | ENTREZGENE |
ENSRNOT00000017370.8 | UniProtKB/TrEMBL | |
ENSRNOT00000076652.2 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.20.140.20 | UniProtKB/TrEMBL |
3.30.565.10 | UniProtKB/TrEMBL | |
InterPro | AK/P_DHK_N_sf | UniProtKB/TrEMBL |
ATPase-like_ATP-bd | UniProtKB/TrEMBL | |
BCDHK/PDK_mit | UniProtKB/TrEMBL | |
BCKD/PDK | UniProtKB/TrEMBL | |
HATPase_C_sf | UniProtKB/TrEMBL | |
Sig_transdc_His_kinase_core | UniProtKB/TrEMBL | |
KEGG Report | rno:296849 | UniProtKB/TrEMBL |
NCBI Gene | 296849 | ENTREZGENE |
PANTHER | [PYRUVATE DEHYDROGENASE (ACETYL-TRANSFERRING)] KINASE ISOZYME 3, MITOCHONDRIAL | UniProtKB/TrEMBL |
PTHR11947 | UniProtKB/TrEMBL | |
Pfam | BCDHK_Adom3 | UniProtKB/TrEMBL |
HATPase_c | UniProtKB/TrEMBL | |
PhenoGen | Pdk3 | PhenoGen |
PROSITE | HIS_KIN | UniProtKB/TrEMBL |
RatGTEx | ENSRNOG00000012513 | RatGTEx |
SMART | HATPase_c | UniProtKB/TrEMBL |
Superfamily-SCOP | ATP_bd_ATPase | UniProtKB/TrEMBL |
BCDHK/PDK_N | UniProtKB/TrEMBL | |
UniProt | A0A096MJ84 | ENTREZGENE, UniProtKB/TrEMBL |
A6IPZ9 | ENTREZGENE, UniProtKB/TrEMBL | |
A6IQ00_RAT | UniProtKB/TrEMBL | |
B5DFI9 | ENTREZGENE | |
F7EQX3 | ENTREZGENE, UniProtKB/TrEMBL | |
UniProt Secondary | B5DFI9 | UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2016-01-13 | Pdk3 | pyruvate dehydrogenase kinase 3 | Pdk3 | pyruvate dehydrogenase kinase, isozyme 3 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-10-10 | Pdk3 | pyruvate dehydrogenase kinase, isozyme 3 | Pdk3 | pyruvate dehydrogenase kinase, isoenzyme 3 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2007-04-13 | pyruvate dehydrogenase kinase, isoenzyme 3 | Pdk3 | pyruvate dehydrogenase kinase, isoenzyme 3 (mapped) | Name updated | 737654 | APPROVED | |
2007-04-11 | Pdk3 | pyruvate dehydrogenase kinase, isoenzyme 3 (mapped) | Pdk3_mapped | pyruvate dehydrogenase kinase, isoenzyme 3 (mapped) | Data merged from RGD:3291 | 737654 | APPROVED |
2006-11-20 | Pdk3 | pyruvate dehydrogenase kinase, isoenzyme 3 (mapped) | Symbol and Name status set to provisional | 70820 | PROVISIONAL | ||
2005-11-17 | Pdk3_mapped | pyruvate dehydrogenase kinase, isoenzyme 3 (mapped) | Pdk3 | pyruvate dehydrogenase kinase, isoenzyme 3 | Symbol and Name updated | 1556543 | APPROVED |
2002-11-06 | Pdk3 | pyruvate dehydrogenase kinase, isoenzyme 3 | Pyruvate dehydrogenase kinase 3 | Name updated | 625702 | APPROVED | |
2002-06-10 | Pdk3 | Pyruvate dehydrogenase kinase 3 | Symbol and Name status set to approved | 70586 | APPROVED |
Note Type | Note | Reference |
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gene_homology | human PDK3 binds to the lipoyl domains of the dihydrolipoyl acetyltransferase (E2) to affect phosphorylation rates of the pyruvate dehydrogenase (E1) component | 1302271 |