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PDK3 (pyruvate dehydrogenase kinase 3)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5165
Gene nameGene Name - the full gene name approved by the HGNC.
Pyruvate dehydrogenase kinase 3
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PDK3
SynonymsGene synonyms aliases
CMTX6, GS1-358P8.4
ChromosomeChromosome number
X
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp22.11
SummarySummary of gene provided in NCBI Entrez Gene.
The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2). It provides the primary link between glycolysis and the tricarboxylic acid (TCA) cyc
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs138321172 A>G Likely-benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs397515323 G>A Pathogenic Missense variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT708958 hsa-miR-181a-5p HITS-CLIP 19536157
MIRT708957 hsa-miR-181b-5p HITS-CLIP 19536157
MIRT708956 hsa-miR-181c-5p HITS-CLIP 19536157
MIRT708955 hsa-miR-181d-5p HITS-CLIP 19536157
MIRT708954 hsa-miR-4262 HITS-CLIP 19536157
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004672 Function Protein kinase activity IDA 15861126
GO:0004674 Function Protein serine/threonine kinase activity IDA 11486000
GO:0004740 Function Pyruvate dehydrogenase (acetyl-transferring) kinase activity IBA 21873635
GO:0004740 Function Pyruvate dehydrogenase (acetyl-transferring) kinase activity IDA 11486000
GO:0005515 Function Protein binding IPI 15861126, 17683942, 28514442
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q15120
Protein name [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial (EC 2.7.11.2) (Pyruvate dehydrogenase kinase isoform 3)
Protein function Inhibits pyruvate dehydrogenase activity by phosphorylation of the E1 subunit PDHA1, and thereby regulates glucose metabolism and aerobic respiration. Can also phosphorylate PDHA2. Decreases glucose utilization and increases fat metabolism in re
PDB 1Y8N , 1Y8O , 1Y8P , 2PNR , 2Q8I
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10436 BCDHK_Adom3
26 188
Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase
Family
PF02518 HATPase_c
236 362
Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase
Domain
Sequence
Sequence length 406
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Diabetic cardiomyopathy   Regulation of pyruvate dehydrogenase (PDH) complex
Signaling by Retinoic Acid
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Charcot-marie-tooth disease, x-linked CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6, X-linked Charcot-Marie-Tooth disease type 6 rs80338731, rs80338732, rs104894810, rs104894811, rs104894812, rs104894813, rs104894814, rs104894817, rs104894818, rs104894819, rs104894820, rs104894821, rs104894822, rs104894824, rs2147483647, rs104894826, rs116840818, rs116840819, rs116840815, rs116840822, rs116840821, rs483352926, rs587777150, rs587781262, rs587781263, rs587777877, rs587777878, rs587777876, rs786204123, rs756928158, rs863224613, rs779696968, rs863224471, rs863224971, rs863224974, rs863224972, rs863224973, rs139643362, rs756614404, rs864622215, rs869025594, rs751230398, rs879254047, rs879254096, rs879253909, rs879254099, rs1057518895, rs1057520778, rs1060501002, rs1555937020, rs1555937233, rs1555937180, rs1555937135, rs1555937194, rs1555937143, rs1555937168, rs1555936989, rs1555937082, rs1241595912, rs1555255676, rs1569215351, rs1569215346, rs1555937166, rs1569215443, rs1602348610, rs1602348794, rs1602348801, rs1602348804, rs879253935, rs1602348820, rs1602348907, rs1602348981, rs1602349087, rs1602349095, rs1602349248, rs1602349293, rs1602349302, rs1602349369, rs1602349383, rs1602349535, rs1602349572, rs1602349603, rs1602349628, rs1555937259, rs1602349716, rs1602349940, rs1602348782, rs1603224817, rs1603227409, rs1602349420, rs1602349955, rs1262031967 23297365
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Polyneuropathy Polyneuropathy rs1597597437
Unknown
Disease name Disease term dbSNP ID References
Distal lower limb amyotrophy Distal lower limb amyotrophy
Motor delay Clumsiness - motor delay
Sensorimotor neuropathy Sensorimotor neuropathy

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