P11177
PR
Gene name |
PDHB (PHE1B) |
Protein name |
Pyruvate dehydrogenase E1 component subunit beta, mitochondrial |
Names |
PDHE1-B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5162 |
EC number |
1.2.4.1: With a disulfide as acceptor |
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
10 structures for P11177
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1NI4 | X-ray | 195 A | B/D | 31-359 | PDB |
| 2OZL | X-ray | 190 A | B/D | 32-359 | PDB |
| 3EXE | X-ray | 198 A | B/D/F/H | 31-359 | PDB |
| 3EXF | X-ray | 300 A | B/D/F/H | 31-359 | PDB |
| 3EXG | X-ray | 301 A | 2/4/6/B/D/F/H/J/L/N/P/R/T/V/X/Z | 31-359 | PDB |
| 3EXH | X-ray | 244 A | B/D/F/H | 31-359 | PDB |
| 3EXI | X-ray | 220 A | B | 31-359 | PDB |
| 6CER | X-ray | 269 A | B/D/F/H | 31-359 | PDB |
| 6CFO | X-ray | 270 A | B/D | 31-359 | PDB |
| AF-P11177-F1 | Predicted | AlphaFoldDB |
247 variants for P11177
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000920218 rs536872599 CA320795 RCV000196375 |
3 | A>V | Pyruvate dehydrogenase E1-beta deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000269390 rs751921912 CA2471711 |
4 | V>A | Pyruvate dehydrogenase E1-beta deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201470762 RCV002487614 RCV000781979 CA2471712 |
4 | V>M | Pyruvate dehydrogenase E1-beta deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2471697 RCV001339391 RCV001831053 rs202185395 |
13 | R>Q | Variant assessed as Somatic; 4.807e-05 impact. Pyruvate dehydrogenase phosphatase deficiency Pyruvate dehydrogenase E1-beta deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001257307 rs763842440 CA2471645 |
36 | R>C | Pyruvate dehydrogenase E1-beta deficiency Pyruvate dehydrogenase e1-beta deficiency (pdhbd) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001277695 rs777514148 CA2471637 |
62 | Q>R | Pyruvate dehydrogenase complex deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2471621 rs772939767 RCV001147749 |
71 | R>Q | Pyruvate dehydrogenase E1-beta deficiency Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs2062921405 RCV001340307 |
98 | G>S | Pyruvate dehydrogenase E1-beta deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001257312 rs2062921303 |
101 | M>T | Pyruvate dehydrogenase E1-beta deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs747573712 RCV001091098 CA2471597 RCV001041351 |
101 | M>V | Pyruvate dehydrogenase E1-beta deficiency Pyruvate dehydrogenase e1-beta deficiency (pdhbd) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001257315 CA2471575 rs201199166 |
104 | L>V | Pyruvate dehydrogenase E1-beta deficiency Pyruvate dehydrogenase e1-beta deficiency (pdhbd) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs868788199 CA75457114 RCV001257314 |
105 | R>Q | Pyruvate dehydrogenase E1-beta deficiency Pyruvate dehydrogenase e1-beta deficiency (pdhbd) Variant assessed as Somatic; impact. [ClinVar, Ensembl, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
VAR_030954 rs28935769 RCV000014076 CA122948 |
132 | Y>C | Pyruvate dehydrogenase E1-beta deficiency Pyruvate dehydrogenase e1-beta deficiency (pdhbd) PDHBD [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001257310 CA2471560 rs151247980 |
142 | I>M | Pyruvate dehydrogenase E1-beta deficiency Pyruvate dehydrogenase e1-beta deficiency (pdhbd) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000127406 rs1438518070 RCV000649338 |
145 | R>= | Pyruvate dehydrogenase E1-beta deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs4264746 RCV000127406 RCV000649338 |
145 | R>= | Pyruvate dehydrogenase E1-beta deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2471555 rs139242990 RCV000537624 RCV001280188 |
150 | A>S | Pyruvate dehydrogenase E1-beta deficiency Pyruvate dehydrogenase complex deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2062912705 RCV001257311 |
165 | W>S | Pyruvate dehydrogenase E1-beta deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs752056463 RCV000335968 CA2471518 |
214 | P>L | Pyruvate dehydrogenase E1-beta deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs886058778 RCV000397468 CA10617237 |
214 | P>S | Pyruvate dehydrogenase E1-beta deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000401924 CA10617235 rs779577082 |
237 | I>K | Pyruvate dehydrogenase E1-beta deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001205440 rs2062903901 |
259 | E>K | Pyruvate dehydrogenase E1-beta deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001833896 CA2471467 rs761614417 RCV001218776 |
261 | V>A | Pyruvate dehydrogenase phosphatase deficiency Pyruvate dehydrogenase E1-beta deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA2471436 RCV001280186 rs372743787 |
276 | M>L | Pyruvate dehydrogenase complex deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC dbSNP gnomAD |
|
RCV001280185 CA353358653 rs1392622459 RCV001578704 |
279 | I>T | Pyruvate dehydrogenase E1-beta deficiency Pyruvate dehydrogenase complex deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001871595 rs148957406 RCV001280184 CA2471434 |
281 | A>S | Pyruvate dehydrogenase E1-beta deficiency Pyruvate dehydrogenase complex deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001280183 rs2062893319 |
283 | V>I | Pyruvate dehydrogenase complex deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2471425 RCV001257308 rs145876456 |
306 | C>R | Pyruvate dehydrogenase E1-beta deficiency Pyruvate dehydrogenase e1-beta deficiency (pdhbd) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA324429 RCV001275344 RCV001144885 RCV000199882 rs201105914 |
313 | P>A | Pyruvate dehydrogenase E1-beta deficiency Pyruvate dehydrogenase complex deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2471392 rs199983136 RCV001257309 |
319 | D>V | Pyruvate dehydrogenase E1-beta deficiency Pyruvate dehydrogenase e1-beta deficiency (pdhbd) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA353357168 rs1576955015 RCV000791114 |
321 | P>L | Pyruvate dehydrogenase E1-beta deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2471376 RCV001246079 RCV001280181 rs149830613 |
343 | I>M | Pyruvate dehydrogenase E1-beta deficiency Pyruvate dehydrogenase complex deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000014077 rs28933391 CA122949 VAR_021058 |
344 | P>S | Pyruvate dehydrogenase E1-beta deficiency Pyruvate dehydrogenase e1-beta deficiency (pdhbd) PDHBD [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001342208 CA2471373 rs748366089 |
353 | I>V | Pyruvate dehydrogenase E1-beta deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
CA353365282 rs753447396 COSM322584 |
2 | A>E | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA2471713 rs753447396 |
2 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1344875494 CA353365278 |
3 | A>S | No |
ClinGen gnomAD |
|
|
CA353365260 rs1053613186 |
5 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA75459888 rs1053613186 |
5 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA2471709 rs200470565 |
5 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2471710 rs200470565 |
5 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1411182753 CA353365252 |
6 | G>S | No |
ClinGen gnomAD |
|
|
CA353365238 rs1371051544 |
6 | G>V | No |
ClinGen gnomAD |
|
|
CA75459883 CA75459882 rs769880461 |
8 | V>L | No |
ClinGen ExAC TOPMed |
|
|
rs769880461 CA2471707 |
8 | V>M | No |
ClinGen ExAC TOPMed |
|
|
rs747302644 CA2471703 |
9 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA2471702 rs777698544 |
10 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1423162851 CA353365150 |
11 | P>R | No |
ClinGen gnomAD |
|
|
CA353365155 rs1411533510 |
11 | P>S | No |
ClinGen gnomAD |
|
|
rs778745122 CA2471700 |
12 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778745122 CA2471699 |
12 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754460400 CA2471698 |
13 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA353365077 rs202185395 |
13 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353365068 rs1292421622 |
14 | E>A | No |
ClinGen gnomAD |
|
|
CA353365058 rs1389138378 |
14 | E>D | No |
ClinGen TOPMed |
|
|
rs1464777706 CA353364980 |
16 | S>C | No |
ClinGen gnomAD |
|
|
rs1210138625 CA353364977 |
17 | G>R | No |
ClinGen gnomAD |
|
|
rs749285624 CA2471680 |
20 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2471679 rs565786614 |
21 | R>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs983234381 CA75459705 |
22 | R>C | No |
ClinGen TOPMed |
|
|
rs1365655625 CA353364835 |
25 | W>* | No |
ClinGen TOPMed |
|
|
CA353364844 rs1275407768 |
25 | W>G | No |
ClinGen gnomAD |
|
|
CA353364846 rs1275407768 |
25 | W>R | No |
ClinGen gnomAD |
|
|
rs1362695915 CA353364799 |
27 | A>V | No |
ClinGen gnomAD |
|
|
CA2471676 rs780733289 |
29 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs758735231 CA75459681 |
30 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2471675 rs758735231 |
30 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1412882100 CA353364734 |
31 | L>M | No |
ClinGen gnomAD |
|
|
rs1427867511 CA353364724 |
31 | L>P | No |
ClinGen gnomAD |
|
| VAR_004967 | 31 | L>V | No | UniProt | |
|
rs1560189274 CA353364712 |
32 | Q>* | No |
ClinGen Ensembl |
|
|
CA353364403 rs1310461104 |
36 | R>H | No |
ClinGen gnomAD |
|
|
CA353364341 rs1368188806 |
39 | I>T | No |
ClinGen gnomAD |
|
|
CA2471644 rs762766442 |
39 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2471641 rs759539954 |
48 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA2471640 rs111470467 |
50 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353364100 rs1488121736 |
56 | L>F | No |
ClinGen gnomAD |
|
|
CA353364032 rs1223526443 |
62 | Q>* | No |
ClinGen gnomAD |
|
|
CA2471636 rs769095344 |
64 | D>H | No |
ClinGen ExAC gnomAD |
|
|
COSM1047804 rs749682039 CA2471635 |
66 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs200879699 CA2471634 |
68 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353363944 rs200879699 |
68 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs373124742 CA75458047 |
71 | R>* | No |
ClinGen ESP |
|
|
rs771853453 CA2471620 |
72 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA75458018 rs1036231502 |
77 | Y>* | No |
ClinGen TOPMed |
|
|
rs1455283629 CA353363210 |
80 | K>R | No |
ClinGen gnomAD |
|
|
rs1576958044 CA353363144 |
85 | T>P | No |
ClinGen Ensembl |
|
|
CA353363128 rs1271984826 |
86 | P>S | No |
ClinGen gnomAD |
|
|
rs11542401 CA75457823 |
94 | G>E | No |
ClinGen Ensembl |
|
|
rs1194094000 CA353362949 |
96 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs771466468 CA353362923 |
98 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771466468 CA2471598 |
98 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1486273937 CA353362880 |
101 | M>I | No |
ClinGen gnomAD |
|
|
rs1173985067 CA353362777 |
102 | A>G | No |
ClinGen TOPMed |
|
|
CA2471574 rs748243880 |
104 | L>F | No |
ClinGen ExAC |
|
|
CA353362757 rs1576957311 |
104 | L>W | No |
ClinGen Ensembl |
|
|
CA2471573 rs768916456 |
105 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA2471572 rs768916456 |
105 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA2471571 rs749527278 |
106 | P>A | No |
ClinGen ExAC |
|
|
rs779872594 CA2471570 |
107 | I>L | No |
ClinGen ExAC |
|
|
rs75997072 CA353362721 |
108 | C>F | No |
ClinGen Ensembl |
|
|
rs75997072 CA75457054 |
108 | C>S | No |
ClinGen Ensembl |
|
|
rs1388846618 CA353362689 |
110 | F>C | No |
ClinGen gnomAD |
|
|
CA2471568 rs534238658 |
112 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA353362666 rs534238658 |
112 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA353362639 rs1462179549 |
114 | N>D | No |
ClinGen gnomAD |
|
|
CA75457026 rs751436063 |
114 | N>S | No |
ClinGen Ensembl |
|
|
CA353362613 rs1180148037 |
116 | S>P | No |
ClinGen gnomAD |
|
|
rs781299313 CA2471567 |
117 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA353362595 rs1234008105 |
117 | M>T | No |
ClinGen gnomAD |
|
|
CA75457019 rs1019990431 COSM480513 |
118 | Q>* | kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1576957240 CA353362548 |
118 | Q>H | No |
ClinGen Ensembl |
|
|
CA75457013 rs1006798214 |
122 | Q>* | No |
ClinGen TOPMed |
|
|
CA353362197 rs1295536609 |
131 | Y>S | No |
ClinGen gnomAD |
|
|
rs954019903 CA75456990 |
132 | Y>H | No |
ClinGen TOPMed |
|
|
rs751111486 CA2471565 |
133 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA75456973 rs1026778470 |
137 | L>P | No |
ClinGen TOPMed |
|
|
rs777639555 CA2471564 |
139 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000197569 rs863224158 CA322033 |
140 | V>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs766730807 CA2471561 |
142 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353361862 rs1332550586 |
145 | R>G | No |
ClinGen gnomAD |
|
|
rs1326341233 CA353361857 |
145 | R>K | No |
ClinGen gnomAD |
|
|
CA353361837 rs4264746 CA353361847 |
145 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774472788 CA2471557 |
147 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2471558 rs762371237 |
147 | P>S | No |
ClinGen ExAC gnomAD |
|
| rs1438518070 | 148 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2471556 rs768663547 |
148 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs780170320 CA2471554 |
153 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA353361431 rs1464147385 |
158 | H>Y | No |
ClinGen gnomAD |
|
|
CA75456923 rs980291772 |
163 | A>D | No |
ClinGen Ensembl |
|
|
CA353361353 rs1217309133 |
164 | A>P | No |
ClinGen gnomAD |
|
|
rs1553848441 RCV000676648 CA353361333 CA353361331 |
165 | W>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1277316448 CA353361319 |
166 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 166 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353361276 rs1303812287 |
169 | C>F | No |
ClinGen gnomAD |
|
|
rs952563719 CA75456883 |
170 | P>T | No |
ClinGen Ensembl |
|
|
CA2471544 rs760966357 |
174 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA2471545 rs760966357 |
174 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA353361193 rs1433171346 |
176 | S>C | No |
ClinGen gnomAD |
|
|
CA353361172 rs1345790679 |
177 | P>L | No |
ClinGen gnomAD |
|
|
rs750784388 CA2471543 |
179 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2471541 rs767924413 |
187 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 188 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1168806673 CA353360989 |
190 | A>T | No |
ClinGen TOPMed |
|
|
CA353360973 rs1560187756 |
191 | I>T | No |
ClinGen Ensembl |
|
|
rs1372214410 CA353360964 |
192 | R>L | No |
ClinGen TOPMed |
|
|
CA75456855 rs865920135 |
192 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs994015584 CA75456845 |
194 | N>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 194 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2471539 rs774756909 |
195 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1400143411 CA353360791 |
197 | V>A | No |
ClinGen TOPMed |
|
|
rs1449317913 CA353360900 |
197 | V>L | No |
ClinGen gnomAD |
|
|
CA75456586 rs35514615 |
198 | V>A | No |
ClinGen Ensembl |
|
|
rs1257617994 CA353360771 |
199 | V>M | No |
ClinGen gnomAD |
|
|
rs1576956690 CA353360741 |
200 | L>P | No |
ClinGen Ensembl |
|
|
CA2471521 rs767832452 |
203 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA353360577 rs1433075188 |
208 | V>F | No |
ClinGen TOPMed |
|
|
rs757645498 CA2471520 |
212 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353360438 rs1278238675 |
215 | E>A | No |
ClinGen TOPMed |
|
|
CA2471515 rs775425923 |
216 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs765457802 CA2471514 |
218 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA353360363 rs1576956647 |
219 | K>Q | No |
ClinGen Ensembl |
|
|
CA353360322 rs1409709567 |
220 | D>E | No |
ClinGen gnomAD |
|
|
CA2471512 rs777024340 |
220 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1222636032 CA353360265 |
224 | P>A | No |
ClinGen TOPMed |
|
|
rs1349677527 CA353360237 |
225 | I>T | No |
ClinGen TOPMed |
|
|
CA2471509 rs773139051 |
225 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA353360185 rs1348924937 |
228 | A>T | No |
ClinGen gnomAD |
|
|
rs1162188600 CA353360164 |
229 | K>E | No |
ClinGen gnomAD |
|
|
CA2471508 rs771901438 |
231 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2471507 rs146343258 |
233 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353359149 rs1348982334 |
236 | H>N | No |
ClinGen gnomAD |
|
|
CA2471475 rs779577082 |
237 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs753206504 CA2471476 |
237 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA353359130 rs1295648897 |
239 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA353359131 rs1295648897 |
239 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 242 | H>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1435265181 CA353359090 |
245 | P>S | No |
ClinGen gnomAD |
|
|
CA2471472 rs138764163 |
248 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353359004 rs1315729187 |
253 | A>T | No |
ClinGen TOPMed |
|
|
rs750694855 CA2471469 |
256 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2471468 rs767174898 |
259 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA75456014 rs767174898 |
259 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1576956270 CA353358908 |
260 | G>R | No |
ClinGen Ensembl |
|
|
CA353358898 rs1560187249 |
261 | V>I | No |
ClinGen Ensembl |
|
|
CA2471466 rs774212597 |
264 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 267 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2471439 rs774836997 |
268 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs769187141 CA2471438 |
269 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1328382628 CA353358740 |
269 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA75455131 rs755591394 |
271 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs372743787 CA2471437 |
276 | M>V | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA353358655 rs1392622459 |
279 | I>K | No |
ClinGen TOPMed gnomAD |
|
|
rs756086285 CA2471435 |
279 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 280 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353358647 rs1167155289 |
280 | E>K | No |
ClinGen gnomAD |
|
|
rs369190855 CA2471433 |
284 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353358578 rs1349057270 |
285 | K>E | No |
ClinGen TOPMed |
|
|
CA353358555 rs1157285249 |
286 | T>I | No |
ClinGen gnomAD |
|
|
CA2471432 rs202236415 |
287 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA75455109 rs376110096 |
288 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA2471431 rs376110096 |
288 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs371393276 CA75455103 |
289 | L>P | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 290 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1560186662 CA353358521 |
291 | T>P | No |
ClinGen Ensembl |
|
|
CA75455093 rs13446 |
298 | Q>K | No |
ClinGen Ensembl |
|
|
CA353358464 rs752521945 |
299 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752521945 CA2471428 |
299 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2471426 rs759461639 |
303 | A>T | No |
ClinGen ExAC TOPMed |
|
|
rs140744404 CA2471424 |
306 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353358409 rs1237258897 |
308 | R>G | No |
ClinGen TOPMed |
|
|
rs1162767156 CA353357416 |
312 | G>D | No |
ClinGen TOPMed |
|
|
CA2471394 rs770940287 |
314 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416476225 CA353357327 |
316 | N>S | No |
ClinGen gnomAD |
|
|
CA353357309 rs1162229014 |
317 | F>L | No |
ClinGen gnomAD |
|
|
rs1246493550 CA353357199 |
320 | A>G | No |
ClinGen gnomAD |
|
|
COSM192896 rs1246493550 CA353357195 |
320 | A>V | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs772328849 CA2471391 |
321 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA353357153 rs1399957876 |
322 | A>T | No |
ClinGen TOPMed |
|
|
CA353357100 rs1479502588 |
323 | V>I | No |
ClinGen gnomAD |
|
|
rs1234397875 CA353357076 |
324 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2471389 rs778741789 |
324 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1393859089 CA353356919 |
328 | A>G | No |
ClinGen gnomAD |
|
|
CA353356969 rs1272604977 |
328 | A>T | No |
ClinGen gnomAD |
|
|
rs753757096 CA2471387 |
331 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA75454751 rs267599917 |
331 | P>S | No |
ClinGen Ensembl |
|
|
CA2471386 rs780150185 |
332 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA2471383 rs767192593 |
336 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs368051123 CA2471382 |
336 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2471380 rs760143249 |
337 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA353356764 rs1576954941 |
337 | I>V | No |
ClinGen Ensembl |
|
|
rs933487004 CA75454715 |
338 | L>I | No |
ClinGen Ensembl |
|
| TCGA novel | 341 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751928661 CA2471379 |
341 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2471378 rs777056005 |
342 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA353356685 rs975430142 |
343 | I>L | No |
ClinGen gnomAD |
|
|
CA75454684 rs975430142 |
343 | I>V | No |
ClinGen gnomAD |
|
|
CA75454680 rs914886782 |
345 | Q>* | No |
ClinGen Ensembl |
|
|
CA75454677 rs987571203 |
345 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA353356651 rs773256169 |
348 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773256169 CA2471375 |
348 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 349 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353356644 rs1211886444 |
349 | I>V | No |
ClinGen gnomAD |
|
|
rs537466954 CA2471372 |
353 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA353356607 rs1238915910 |
354 | K>M | No |
ClinGen gnomAD |
|
|
rs749094591 CA2471370 |
358 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA353356572 rs1215812751 |
359 | I>T | No |
ClinGen TOPMed |
1 associated diseases with P11177
[MIM: 614111]: Pyruvate dehydrogenase E1-beta deficiency (PDHBD)
An enzymatic defect causing primary lactic acidosis in children. It is associated with a broad clinical spectrum ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis. {ECO:0000269|PubMed:15138885}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An enzymatic defect causing primary lactic acidosis in children. It is associated with a broad clinical spectrum ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis. {ECO:0000269|PubMed:15138885}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 1.2.4.1 | With a disulfide as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
6 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. |
| mitochondrial pyruvate dehydrogenase complex | Complex that carries out the oxidative decarboxylation of pyruvate to form acetyl-CoA in eukaryotes; includes subunits possessing three catalytic activities: pyruvate dehydrogenase (E1), dihydrolipoamide S-acetyltransferase (E2), and dihydrolipoamide dehydrogenase (E3). The This Eukaryotic form usually contains more subunits than its bacterial counterpart; for example, one known complex contains 30 E1 dimers, 60 E2 monomers, and 6 E3 dimers as well as a few copies of pyruvate dehydrogenase kinase and pyruvate dehydrogenase phosphatase. |
| 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. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| pyruvate dehydrogenase complex | Complex that carries out the oxidative decarboxylation of pyruvate to form acetyl-CoA; comprises subunits possessing three catalytic activities: pyruvate dehydrogenase (E1), dihydrolipoamide S-acetyltransferase (E2), and dihydrolipoamide dehydrogenase (E3). |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| pyruvate dehydrogenase (acetyl-transferring) activity | Catalysis of the reaction: pyruvate + lipoamide = S-acetyldihydrolipoamide + CO2. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| acetyl-CoA biosynthetic process from pyruvate | The chemical reactions and pathways resulting in the formation of acetyl-CoA from pyruvate. |
| 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. |
| mitochondrial acetyl-CoA biosynthetic process from pyruvate | The chemical reactions and pathways resulting in the formation of acetyl-CoA from pyruvate in the mitochondrion. The process begins with the transport of pyruvate from the cytosol to the mitochondrion where it is subsequently decarboxylated to form acetyl-CoA. |
| tricarboxylic acid cycle | A nearly universal metabolic pathway in which the acetyl group of acetyl coenzyme A is effectively oxidized to two CO2 and four pairs of electrons are transferred to coenzymes. The acetyl group combines with oxaloacetate to form citrate, which undergoes successive transformations to isocitrate, 2-oxoglutarate, succinyl-CoA, succinate, fumarate, malate, and oxaloacetate again, thus completing the cycle. In eukaryotes the tricarboxylic acid is confined to the mitochondria. See also glyoxylate cycle. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P11966 | PDHB | Pyruvate dehydrogenase E1 component subunit beta, mitochondrial | Bos taurus (Bovine) | PR |
| Q9D051 | Pdhb | Pyruvate dehydrogenase E1 component subunit beta, mitochondrial | Mus musculus (Mouse) | PR |
| P49432 | Pdhb | Pyruvate dehydrogenase E1 component subunit beta, mitochondrial | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAVSGLVRR | PLREVSGLLK | RRFHWTAPAA | LQVTVRDAIN | QGMDEELERD | EKVFLLGEEV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AQYDGAYKVS | RGLWKKYGDK | RIIDTPISEM | GFAGIAVGAA | MAGLRPICEF | MTFNFSMQAI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DQVINSAAKT | YYMSGGLQPV | PIVFRGPNGA | SAGVAAQHSQ | CFAAWYGHCP | GLKVVSPWNS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EDAKGLIKSA | IRDNNPVVVL | ENELMYGVPF | EFPPEAQSKD | FLIPIGKAKI | ERQGTHITVV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SHSRPVGHCL | EAAAVLSKEG | VECEVINMRT | IRPMDMETIE | ASVMKTNHLV | TVEGGWPQFG |
| 310 | 320 | 330 | 340 | 350 | |
| VGAEICARIM | EGPAFNFLDA | PAVRVTGADV | PMPYAKILED | NSIPQVKDII | FAIKKTLNI |