Q15120
Gene name |
PDK3 (PDHK3) |
Protein name |
[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial |
Names |
Pyruvate dehydrogenase kinase isoform 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5165 |
EC number |
2.7.11.2: Protein-serine/threonine kinases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
146 variants for Q15120
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1940054079 RCV001208350 |
5 | R>W | Charcot-Marie-Tooth disease X-linked dominant 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000543425 CA10372221 CA10372220 rs371137355 |
17 | E>D | Charcot-Marie-Tooth disease X-linked dominant 6 [ClinVar] | Yes |
ClinGen 1000Genomes ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV001206745 CA10372232 rs757407648 |
50 | R>Q | Charcot-Marie-Tooth disease X-linked dominant 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000694093 CA412604148 rs1569221445 |
54 | P>S | Charcot-Marie-Tooth disease X-linked dominant 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000756466 rs375475050 RCV002533789 CA10372264 |
102 | P>S | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease X-linked dominant 6 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000864913 VAR_070081 RCV001173738 CA10372280 rs146331370 |
114 | K>T | Charcot-Marie-Tooth disease X-linked dominant 6 Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000432171 CA10372281 RCV001173742 rs138321172 RCV001081421 RCV000513112 RCV002521596 |
126 | M>V | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease X-linked dominant 6 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA327704771 rs898354567 RCV001214596 RCV001508955 |
141 | P>L | Charcot-Marie-Tooth disease X-linked dominant 6 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1602114620 RCV001173740 CA412605448 RCV001751304 |
156 | T>I | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_070082 CA144620 RCV000054495 rs397515323 COSM3708569 RCV002513712 |
158 | R>H | liver Charcot-Marie-Tooth disease X-linked dominant 6 Variant assessed as Somatic; impact. Inborn genetic diseases CMTX6; gain of function; results in a 5-fold increase in kinase activity, decreased sensitivity to pyruvate inhibition, reduced affinity for nucleotides and increased affinity for pyruvate dehydrogenase complex component E2 (PDC-E2), leading to PDC hyperphosphorylation and increased inactivation [Cosmic, ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000999356 rs867468579 CA412605485 RCV001211863 |
162 | R>H | Charcot-Marie-Tooth disease X-linked dominant 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000555849 rs1165981822 CA412605673 |
188 | D>N | Charcot-Marie-Tooth disease X-linked dominant 6 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA10372304 COSM78288 rs764909872 RCV001337511 |
193 | V>M | ovary Charcot-Marie-Tooth disease X-linked dominant 6 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs1569225940 RCV000686477 |
199 | D>missing | Charcot-Marie-Tooth disease X-linked dominant 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555949588 RCV000651316 CA412602235 |
203 | T>R | Charcot-Marie-Tooth disease X-linked dominant 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001202537 rs1051776582 CA327706384 |
231 | P>R | Charcot-Marie-Tooth disease X-linked dominant 6 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA412602726 RCV000814200 rs1569227273 |
271 | K>E | Charcot-Marie-Tooth disease X-linked dominant 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001219332 rs1922567942 |
314 | E>* | Charcot-Marie-Tooth disease X-linked dominant 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1569228203 CA412603604 RCV001855875 RCV000756467 |
360 | A>V | Charcot-Marie-Tooth disease X-linked dominant 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569228214 RCV000699821 |
363 | S>missing | Charcot-Marie-Tooth disease X-linked dominant 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001233818 rs1922715042 |
366 | F>C | Charcot-Marie-Tooth disease X-linked dominant 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001227739 rs1922715462 |
369 | L>P | Charcot-Marie-Tooth disease X-linked dominant 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001173739 rs1922715641 |
372 | F>* | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
rs781166988 RCV000688385 CA10372401 |
376 | A>T | Charcot-Marie-Tooth disease X-linked dominant 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA412603765 RCV001322360 rs1442646183 COSM1119515 |
383 | T>M | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease X-linked dominant 6 endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
rs762702094 CA10372408 RCV001349403 |
402 | Y>C | Charcot-Marie-Tooth disease X-linked dominant 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10372409 RCV001339282 rs375862167 |
404 | A>V | Charcot-Marie-Tooth disease X-linked dominant 6 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs758776608 CA10372217 |
2 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs758776608 CA412603096 |
2 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10372218 rs780490485 |
4 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA412603112 rs1215980952 |
5 | R>Q | No |
ClinGen TOPMed |
|
|
CA412603140 rs1486473032 |
9 | K>N | No |
ClinGen gnomAD |
|
|
CA412603155 rs1211281591 |
11 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1481997420 CA412603174 |
14 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA412603176 rs1178880511 |
15 | Q>K | No |
ClinGen gnomAD |
|
|
CA412603185 rs1203734629 |
16 | I>V | No |
ClinGen TOPMed |
|
|
CA327701962 rs894111987 |
18 | R>S | No |
ClinGen Ensembl |
|
| TCGA novel | 38 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 40 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412604054 rs1389849750 |
40 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 47 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 48 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757407648 CA10372233 |
50 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA412604178 rs1286849807 |
59 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 61 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 62 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412604222 rs1569221449 |
65 | N>S | No |
ClinGen Ensembl |
|
|
CA327704133 rs112864206 |
66 | L>I | No |
ClinGen gnomAD |
|
|
CA412604226 rs112864206 |
66 | L>V | No |
ClinGen gnomAD |
|
|
rs373610926 CA10372237 |
68 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412604238 rs1356193750 |
68 | P>S | No |
ClinGen Ensembl |
|
|
rs781685582 CA412604281 |
74 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA10372239 rs781685582 |
74 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1248307088 CA412604296 |
77 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 78 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412604301 rs1320984152 |
78 | G>R | No |
ClinGen gnomAD |
|
|
CA412604336 rs1219289154 |
83 | W>R | No |
ClinGen gnomAD |
|
|
CA412604439 rs1283683483 |
84 | Y>H | No |
ClinGen gnomAD |
|
|
rs1251479970 CA412604447 |
85 | M>V | No |
ClinGen TOPMed |
|
|
rs752176446 CA10372260 |
89 | L>F | No |
ClinGen ExAC |
|
|
CA327704406 rs865809787 |
96 | N>Y | No |
ClinGen Ensembl |
|
|
CA412604553 rs1438801923 |
99 | P>S | No |
ClinGen TOPMed |
|
|
CA10372262 rs781697878 |
100 | E>K | No |
ClinGen ExAC |
|
|
CA412604568 rs1242976735 |
101 | D>G | No |
ClinGen gnomAD |
|
|
rs753059452 CA10372263 |
101 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA412604603 rs1186311518 |
106 | D>G | No |
ClinGen gnomAD |
|
|
CA327704768 rs377312196 |
107 | N>K | No |
ClinGen Ensembl |
|
|
rs751628881 CA10372277 |
110 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA412605141 rs1569223291 |
113 | I>T | No |
ClinGen Ensembl |
|
|
rs768094116 CA10372279 |
114 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412605253 rs1569223305 |
129 | G>V | No |
ClinGen Ensembl |
|
| TCGA novel | 134 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA327704772 rs1057438680 |
143 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA412605361 rs1362625763 |
144 | S>N | No |
ClinGen gnomAD |
|
|
rs1186559746 CA412605368 |
145 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 153 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1379878511 CA874157694 |
155 | Y>* | No |
ClinGen TOPMed |
|
|
CA10372283 rs753439893 |
158 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs867468579 CA327704773 |
162 | R>L | No |
ClinGen Ensembl |
|
|
CA10372285 rs778417767 |
169 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1440092591 CA412605552 |
170 | L>V | No |
ClinGen gnomAD |
|
|
CA10372298 rs149603823 |
175 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA327704861 rs1001427966 |
176 | T>A | No |
ClinGen Ensembl |
|
|
rs1251852375 CA412605627 |
181 | P>L | No |
ClinGen gnomAD |
|
|
rs1195105052 CA412605645 |
184 | I>V | No |
ClinGen gnomAD |
|
|
CA412605654 rs1358416195 |
185 | G>E | No |
ClinGen TOPMed |
|
|
rs761179602 CA10372300 |
186 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA10372302 rs751045824 |
191 | C>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10372305 rs750057089 |
194 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10372319 rs776972682 |
199 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412605746 rs1379964721 |
199 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs910823377 CA327705857 |
203 | T>P | No |
ClinGen Ensembl |
|
|
rs1228681568 CA412602243 |
205 | K>E | No |
ClinGen gnomAD |
|
| VAR_042297 | 219 | E>A | a head & neck squamous cell carcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
CA10372321 rs200598034 |
224 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746108651 CA10372332 |
227 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412602421 rs775466691 |
228 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10372334 rs775466691 |
228 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369738728 CA10372336 |
230 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1209829135 CA412602450 |
233 | Q>E | No |
ClinGen gnomAD |
|
|
rs1209829135 CA412602449 |
233 | Q>K | No |
ClinGen gnomAD |
|
|
rs1164300946 CA412602461 |
234 | V>A | No |
ClinGen gnomAD |
|
|
rs1255155996 CA412602483 |
238 | P>S | No |
ClinGen gnomAD |
|
|
CA412602533 rs1486575043 |
245 | L>I | No |
ClinGen gnomAD |
|
|
CA412602570 rs1447713476 |
250 | K>E | No |
ClinGen TOPMed |
|
|
rs988429576 CA327706473 |
252 | S>L | No |
ClinGen TOPMed |
|
|
CA10372351 rs756972308 |
255 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs747187153 CA10372353 |
260 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA10372352 rs780372283 |
260 | Y>H | No |
ClinGen ExAC |
|
|
rs768849028 CA10372354 |
262 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 264 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10372355 rs781064695 |
267 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10372358 rs773597771 |
274 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA327706474 rs929575020 |
282 | S>Y | No |
ClinGen Ensembl |
|
|
rs1569227341 CA412602855 |
288 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 291 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412602883 rs1293194420 |
293 | P>S | No |
ClinGen gnomAD |
|
|
COSM1119511 rs868382375 CA327706499 |
295 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
COSM171971 rs1192081613 CA412602924 |
299 | R>C | large_intestine Variant assessed as Somatic; 6.267e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 308 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 312 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1460435676 CA412603061 |
319 | A>D | No |
ClinGen gnomAD |
|
|
CA412603060 rs1401728248 |
319 | A>T | No |
ClinGen gnomAD |
|
|
CA327706737 rs990531239 |
325 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10372374 rs375056431 |
330 | I>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1188703986 CA412603373 |
332 | R>C | No |
ClinGen gnomAD |
|
|
CA327706738 rs368054026 |
332 | R>H | No |
ClinGen ESP TOPMed |
|
| VAR_070083 | 334 | Y>S | No | UniProt | |
|
rs5986591 CA327706739 |
336 | R>K | No |
ClinGen Ensembl |
|
|
rs1424911471 CA412603429 |
337 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 346 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774523978 CA10372378 |
349 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405510156 CA412603534 |
352 | T>S | No |
ClinGen gnomAD |
|
|
CA412603554 rs1602128608 |
355 | V>D | No |
ClinGen Ensembl |
|
|
CA412603551 rs1602128602 |
355 | V>I | No |
ClinGen Ensembl |
|
|
CA412603567 rs1247748997 |
357 | Y>S | No |
ClinGen Ensembl |
|
| TCGA novel | 365 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412603726 rs1356075616 |
378 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 381 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10372404 rs775948695 |
385 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 387 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1371381526 CA412603848 |
395 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA10372405 rs761831322 |
396 | P>L | No |
ClinGen ExAC |
|
|
rs765044068 CA10372406 |
398 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371788046 CA10372407 |
401 | K>R | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 405 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
1 associated diseases with Q15120
[MIM: 300905]: Charcot-Marie-Tooth disease, X-linked dominant, 6 (CMTX6)
A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology
Without disease ID
- A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology
13 regional properties for Q15120
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | HAT (Half-A-TPR) repeat | 222 - 254 | IPR003107-1 |
| repeat | HAT (Half-A-TPR) repeat | 256 - 288 | IPR003107-2 |
| repeat | HAT (Half-A-TPR) repeat | 290 - 322 | IPR003107-3 |
| repeat | HAT (Half-A-TPR) repeat | 324 - 355 | IPR003107-4 |
| repeat | HAT (Half-A-TPR) repeat | 357 - 388 | IPR003107-5 |
| repeat | HAT (Half-A-TPR) repeat | 390 - 425 | IPR003107-6 |
| repeat | HAT (Half-A-TPR) repeat | 427 - 461 | IPR003107-7 |
| repeat | HAT (Half-A-TPR) repeat | 505 - 539 | IPR003107-8 |
| repeat | HAT (Half-A-TPR) repeat | 549 - 585 | IPR003107-9 |
| repeat | HAT (Half-A-TPR) repeat | 587 - 618 | IPR003107-10 |
| repeat | HAT (Half-A-TPR) repeat | 620 - 652 | IPR003107-11 |
| repeat | HAT (Half-A-TPR) repeat | 654 - 688 | IPR003107-12 |
| repeat | HAT (Half-A-TPR) repeat | 690 - 721 | IPR003107-13 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.2 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| mitochondrial matrix | The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
| protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
| pyruvate dehydrogenase (acetyl-transferring) kinase activity | Catalysis of the reaction: ATP + pyruvate dehydrogenase (acetyl-transferring) = ADP + pyruvate dehydrogenase (acetyl-transferring) phosphate. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to fatty acid | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a fatty acid stimulus. |
| cellular response to glucose stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. |
| glucose metabolic process | The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides. |
| hypoxia-inducible factor-1alpha signaling pathway | The series of molecular signals mediated by hypoxia-inducible factor (HIF1) in response to lowered oxygen levels (hypoxia). Under hypoxic conditions, the oxygen-sensitive alpha-subunit of hypoxia-inducible factor (HIF)-1 dimerizes with a HIF1-beta subunit (also called ARNT or aryl-hydrocarbon-receptor nuclear translocator), translocates to the nucleus and activates transcription of genes whose products participate in responding to hypoxia. |
| peptidyl-serine phosphorylation | The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine. |
| peroxisome proliferator activated receptor signaling pathway | The series of molecular signals initiated by binding of a ligand to any of the peroxisome proliferator activated receptors (alpha, beta or gamma) in the nuclear membrane, and ending with the initiation or termination of the transcription of target genes. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| regulation of acetyl-CoA biosynthetic process from pyruvate | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of acetyl-CoA from pyruvate. |
| regulation of glucose metabolic process | Any process that modulates the rate, frequency or extent of glucose metabolism. Glucose metabolic processes are the chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. |
| regulation of reactive oxygen species metabolic process | Any process that modulates the frequency, rate or extent of reactive oxygen species metabolic process. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q15118 | PDK1 | [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial | Homo sapiens (Human) | PR |
| O55028 | Bckdk | [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial | Mus musculus (Mouse) | PR |
| Q00972 | Bckdk | [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRLFRWLLKQ | PVPKQIERYS | RFSPSPLSIK | QFLDFGRDNA | CEKTSYMFLR | KELPVRLANT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| MREVNLLPDN | LLNRPSVGLV | QSWYMQSFLE | LLEYENKSPE | DPQVLDNFLQ | VLIKVRNRHN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DVVPTMAQGV | IEYKEKFGFD | PFISTNIQYF | LDRFYTNRIS | FRMLINQHTL | LFGGDTNPVH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PKHIGSIDPT | CNVADVVKDA | YETAKMLCEQ | YYLVAPELEV | EEFNAKAPDK | PIQVVYVPSH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LFHMLFELFK | NSMRATVELY | EDRKEGYPAV | KTLVTLGKED | LSIKISDLGG | GVPLRKIDRL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FNYMYSTAPR | PSLEPTRAAP | LAGFGYGLPI | SRLYARYFQG | DLKLYSMEGV | GTDAVIYLKA |
| 370 | 380 | 390 | 400 | ||
| LSSESFERLP | VFNKSAWRHY | KTTPEADDWS | NPSSEPRDAS | KYKAKQ |