PDK3 (pyruvate dehydrogenase kinase 3)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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5165 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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PDK3 |
SynonymsGene synonyms aliases
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CMTX6, GS1-358P8.4 |
ChromosomeChromosome number
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X |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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Xp22.11 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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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 |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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
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1Y8P
,
2PNR
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2Q8I
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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 |
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Sequence |
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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.
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Associated diseases
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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 |
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Polyneuropathy |
Polyneuropathy |
rs1597597437 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Distal lower limb amyotrophy |
Distal lower limb amyotrophy |
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Motor delay |
Clumsiness - motor delay |
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Sensorimotor neuropathy |
Sensorimotor neuropathy |
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