P55809
PR
Gene name |
OXCT1 (OXCT, SCOT) |
Protein name |
Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial |
Names |
SCOT, 3-oxoacid CoA-transferase 1, Somatic-type succinyl-CoA:3-oxoacid CoA-transferase, SCOT-s, Succinyl-CoA:3-oxoacid CoA transferase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5019 |
EC number |
2.8.3.5: CoA-transferases |
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
2 structures for P55809
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3DLX | X-ray | 220 A | A/B/C/D | 40-520 | PDB |
| AF-P55809-F1 | Predicted | AlphaFoldDB |
306 variants for P55809
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA117778974 rs929460800 RCV001155915 RCV002559499 |
6 | L>F | Inborn genetic diseases Succinyl-CoA acetoacetate transferase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1750229851 RCV001040411 |
22 | A>S | Succinyl-CoA acetoacetate transferase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM3697247 RCV000987520 CA180263 RCV000153630 rs76956231 RCV000755334 |
38 | R>C | large_intestine Succinyl-CoA acetoacetate transferase deficiency [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1749791315 RCV001250074 |
50 | V>I | Succinyl-CoA acetoacetate transferase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000008643 RCV000676890 rs75134564 CA031340 VAR_000695 RCV000530890 COSM1739126 |
58 | T>M | haematopoietic_and_lymphoid_tissue Succinyl-CoA acetoacetate transferase deficiency [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1579903197 CA359627885 RCV000987519 |
65 | G>R | Succinyl-CoA acetoacetate transferase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA359629346 RCV001027978 rs1579884900 |
124 | R>* | Succinyl-CoA acetoacetate transferase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_085802 | 124 | R>del | SCOTD [UniProt] | Yes | UniProt |
|
VAR_000696 RCV000008643 CA031415 rs267606930 |
133 | V>E | Succinyl-CoA acetoacetate transferase deficiency SCOTD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA10624595 RCV000398748 rs886060638 |
134 | E>D | Succinyl-CoA acetoacetate transferase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000785998 CA359628753 rs1561128268 |
142 | A>P | Succinyl-CoA acetoacetate transferase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10624857 RCV000384976 rs886060637 |
173 | K>R | Succinyl-CoA acetoacetate transferase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs201752548 RCV001233999 CA3253549 VAR_065564 |
215 | A>V | Succinyl-CoA acetoacetate transferase deficiency SCOTD; partial loss of activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
|
CA3253544 rs142383658 RCV001002072 |
217 | R>L | Succinyl-CoA acetoacetate transferase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA119341 rs121909302 VAR_010337 RCV000008645 |
219 | G>E | Succinyl-CoA acetoacetate transferase deficiency SCOTD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000008646 CA119342 rs121909303 VAR_010338 |
221 | V>M | Succinyl-CoA acetoacetate transferase deficiency SCOTD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_065565 rs368841359 CA3253516 |
226 | S>N | SCOTD; loss of activity [UniProt] | Yes |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA234477 rs727504063 VAR_085803 RCV000153628 |
245 | V>F | SCOTD; unknown pathological significance [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA10606044 VAR_085804 rs886043862 RCV000283149 |
270 | I>K | SCOTD; unknown pathological significance [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs757407425 CA3253476 RCV001213080 |
271 | K>R | Succinyl-CoA acetoacetate transferase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_085805 | 280 | E>A | SCOTD; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV000008641 CA119337 rs121909299 |
283 | S>* | Succinyl-CoA acetoacetate transferase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000688554 CA3253453 rs750604881 |
285 | R>W | Succinyl-CoA acetoacetate transferase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001234000 rs1746638676 |
311 | L>F | Succinyl-CoA acetoacetate transferase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001091907 CA119340 RCV000008644 rs121909301 VAR_010339 |
324 | G>E | Variant assessed as Somatic; 0.0 impact. Succinyl-CoA acetoacetate transferase deficiency SCOTD [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_065566 | 327 | L>P | SCOTD; partial loss of activity [UniProt] | Yes | UniProt |
|
CA3253342 RCV001212308 rs772982372 |
394 | V>I | Succinyl-CoA acetoacetate transferase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001152041 COSM1068323 CA3253339 rs544345952 |
395 | D>N | endometrium Succinyl-CoA acetoacetate transferase deficiency [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
| VAR_065567 | 404 | V>F | SCOTD; loss of activity [UniProt] | Yes | UniProt |
| VAR_065568 | 405 | S>P | SCOTD; loss of activity [UniProt] | Yes | UniProt |
| VAR_085806 | 437 | V>M | SCOTD; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV000008642 VAR_000697 rs121909300 CA119339 |
456 | C>F | Succinyl-CoA acetoacetate transferase deficiency SCOTD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA359686079 RCV002223963 VAR_065569 rs1327401976 RCV000984940 |
468 | R>C | Succinyl-CoA acetoacetate transferase deficiency SCOTD; partial loss of activity; the mutant retains half of the activity of the wild-type at 30 degrees [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV001157510 CA3253254 rs745896456 |
507 | A>V | Succinyl-CoA acetoacetate transferase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs180683984 CA3253233 RCV000298531 |
519 | A>T | Variant assessed as Somatic; 0.0 impact. Succinyl-CoA acetoacetate transferase deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA359629231 rs1286671636 |
2 | A>E | No |
ClinGen gnomAD |
|
|
rs1561144424 CA359629229 |
3 | A>P | No |
ClinGen Ensembl |
|
|
rs772198820 CA3253727 |
3 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA359629218 rs1421676841 |
5 | K>E | No |
ClinGen TOPMed |
|
|
CA3253726 rs747938574 |
6 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1384253023 CA359629207 |
7 | L>F | No |
ClinGen gnomAD |
|
|
COSM3941327 CA359629196 rs1414612476 |
8 | S>F | oesophagus Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA359629192 rs1336643508 |
9 | S>F | No |
ClinGen gnomAD |
|
|
CA3253725 rs774297248 CA117778965 |
10 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3253724 rs768386652 |
11 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs768386652 CA359629185 |
11 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA117778939 rs945628367 RCV000676891 |
12 | R>Q | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA359629174 rs1377966527 |
13 | L>F | No |
ClinGen gnomAD |
|
|
CA117778929 rs774315290 |
14 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs745437191 CA3253720 |
15 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3253718 rs201384699 |
16 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 18 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765620533 CA3253717 |
18 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA117778886 rs867294018 |
18 | R>L | No |
ClinGen Ensembl |
|
|
rs765620533 CA3253716 |
18 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA3253715 rs755105574 |
19 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA359629139 rs1378788165 |
20 | S>P | No |
ClinGen TOPMed |
|
|
rs1226797426 CA359629123 |
22 | A>E | No |
ClinGen TOPMed |
|
|
CA359629109 rs1315024309 |
24 | W>* | No |
ClinGen gnomAD |
|
|
CA359629113 rs1360213830 |
24 | W>R | No |
ClinGen gnomAD |
|
| TCGA novel | 27 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359628146 rs1218881787 |
27 | G>R | No |
ClinGen gnomAD |
|
|
rs1431090232 CA359628139 |
28 | C>R | No |
ClinGen gnomAD |
|
|
rs367774487 CA3253693 |
31 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 32 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359628100 rs1579906352 |
33 | S>F | No |
ClinGen Ensembl |
|
|
CA117772966 rs373779789 |
35 | S>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1456985008 CA359628081 |
36 | A>V | No |
ClinGen TOPMed |
|
|
CA117772950 rs190346361 |
37 | H>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA117772958 rs190346361 |
37 | H>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1160885598 CA359628078 |
37 | H>Y | No |
ClinGen TOPMed |
|
|
rs756300300 CA3253691 COSM1068330 |
38 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs767731966 CA3253689 |
40 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs750495384 CA3253690 |
40 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA359628048 rs1561138001 |
42 | F>I | No |
ClinGen Ensembl |
|
|
CA117772882 rs954902023 |
42 | F>L | No |
ClinGen TOPMed |
|
|
rs1298728436 CA359628033 |
44 | T>P | No |
ClinGen gnomAD |
|
|
CA3253686 rs199713007 |
45 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3253685 rs762795940 |
46 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359628013 rs1463941059 |
47 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1176969822 CA359628003 |
49 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 50 | V>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3253682 rs759216807 |
56 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 69 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359627860 rs1158185169 |
69 | I>V | No |
ClinGen gnomAD |
|
|
rs1437900805 CA359627852 |
70 | P>A | No |
ClinGen gnomAD |
|
|
CA117771743 rs952488136 |
74 | I>T | No |
ClinGen gnomAD |
|
|
CA359627789 rs1442224828 |
75 | D>E | No |
ClinGen gnomAD |
|
|
rs1254457952 CA359627740 |
78 | L>R | No |
ClinGen gnomAD |
|
| TCGA novel | 81 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752496283 CA3253667 |
81 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1374264886 CA359627703 |
81 | G>V | No |
ClinGen gnomAD |
|
|
CA3253666 rs764963819 |
84 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1027265638 CA117771726 |
87 | A>V | No |
ClinGen gnomAD |
|
|
CA3253664 rs776233135 |
90 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1319971002 CA359627595 |
90 | N>T | No |
ClinGen gnomAD |
|
|
CA359629530 rs1182441196 |
96 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA359629531 rs1182441196 |
96 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3253633 rs758376369 |
98 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 99 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1236285323 CA359629512 |
99 | L>V | No |
ClinGen gnomAD |
|
|
COSM738747 rs778805908 CA3253631 |
104 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA117806000 rs1001833686 |
104 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA3253630 rs754919844 |
106 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs111495436 CA117805988 |
107 | Q>R | No |
ClinGen Ensembl |
|
|
rs755989003 CA3253627 |
110 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs750016760 COSM1068329 CA3253626 |
110 | R>H | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA359629439 rs1329867072 |
111 | M>V | No |
ClinGen gnomAD |
|
|
rs1454958208 CA359629388 |
118 | E>G | No |
ClinGen gnomAD |
|
|
rs767268812 CA3253625 |
123 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA359629344 rs761218834 |
124 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs761218834 CA3253624 |
124 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs773928226 CA3253623 |
125 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA359629339 rs1409543622 |
125 | Q>R | No |
ClinGen gnomAD |
|
|
rs376948188 CA3253622 |
126 | Y>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA359629328 rs1471119703 |
127 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 132 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359629267 rs1359375499 |
136 | T>I | No |
ClinGen gnomAD |
|
|
CA117805913 rs1010838278 |
137 | P>S | No |
ClinGen TOPMed |
|
|
rs398123393 RCV000078820 CA220828 |
139 | G>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1043752825 CA117804271 |
144 | R>K | No |
ClinGen TOPMed |
|
|
COSM3429474 CA359628697 rs1337801147 |
146 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1304494388 CA359628695 |
146 | R>H | No |
ClinGen gnomAD |
|
| TCGA novel | 146 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774361933 CA3253596 |
149 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA359628622 rs1579876522 |
152 | V>G | No |
ClinGen Ensembl |
|
|
rs1162569760 CA359628614 |
153 | P>S | No |
ClinGen gnomAD |
|
|
rs749440516 CA3253594 |
157 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1194660038 CA359628543 |
159 | T>A | No |
ClinGen gnomAD |
|
|
rs1193055961 CA359628512 |
161 | Y>C | No |
ClinGen gnomAD |
|
|
rs1579876395 CA359628514 |
161 | Y>D | No |
ClinGen Ensembl |
|
| TCGA novel | 162 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 162 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3253592 rs781073019 |
164 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA359628469 rs1372394929 |
166 | Q>R | No |
ClinGen TOPMed |
|
|
CA359628447 rs1219956106 |
169 | G>A | No |
ClinGen gnomAD |
|
|
rs764235078 CA117804208 |
175 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 176 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1260351578 CA359628313 |
179 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs981637499 CA117804184 |
180 | V>I | No |
ClinGen Ensembl |
|
|
rs371323699 CA3253588 |
183 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359628260 rs1315753692 |
183 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 185 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359628223 rs752311307 |
186 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA3253587 rs752311307 |
186 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1386892136 CA359628179 |
188 | E>D | No |
ClinGen gnomAD |
|
|
CA117800320 rs267600639 |
189 | V>G | No |
ClinGen Ensembl |
|
|
rs776624967 CA117800317 |
191 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3253558 rs776624967 |
191 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359627418 rs1579857317 |
193 | N>H | No |
ClinGen Ensembl |
|
|
rs770832107 CA3253557 |
193 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA117800303 rs777419827 |
193 | N>S | No |
ClinGen gnomAD |
|
|
rs746742644 CA359627398 |
196 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA3253554 CA3253555 COSM1543951 rs771806298 |
196 | H>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs746742644 CA3253556 |
196 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs747823376 CA3253553 |
197 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs754509488 CA3253551 |
202 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1341220767 CA359627350 |
203 | I>V | No |
ClinGen gnomAD |
|
|
rs748810556 CA3253550 |
204 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs748810556 CA359627340 |
204 | T>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 205 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359627260 rs1164317738 |
216 | D>Y | No |
ClinGen gnomAD |
|
|
rs758813974 CA3253545 |
217 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA359627253 rs142383658 |
217 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA117800231 rs993672440 |
218 | A>T | No |
ClinGen TOPMed |
|
|
CA359627224 rs1579856741 |
222 | I>T | No |
ClinGen Ensembl |
|
|
rs1190931254 CA359627213 |
224 | R>G | No |
ClinGen gnomAD |
|
|
CA220830 rs368841359 RCV000078822 |
226 | S>I | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1162038121 CA359627123 |
234 | M>I | No |
ClinGen TOPMed |
|
|
CA117799202 rs901434284 |
240 | T>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 246 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3253484 rs748622466 |
250 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1230432535 CA359626761 |
251 | I>V | No |
ClinGen gnomAD |
|
|
CA359626748 rs1380284826 |
253 | A>P | No |
ClinGen gnomAD |
|
|
CA3253483 rs376437637 |
253 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3253482 rs768868199 |
254 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1298348068 CA359626731 |
256 | P>A | No |
ClinGen gnomAD |
|
|
CA117779878 rs145689464 |
257 | E>G | No |
ClinGen ESP gnomAD |
|
|
CA3253479 rs191659907 |
258 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3253480 rs191659907 |
258 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1166775707 CA359626707 |
259 | I>T | No |
ClinGen gnomAD |
|
|
CA359626703 rs1579778641 |
260 | H>Y | No |
ClinGen Ensembl |
|
|
CA3253477 rs781448165 |
261 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1164502963 COSM1695732 CA359626686 |
262 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA117779824 rs1033175708 |
263 | Q>H | No |
ClinGen TOPMed |
|
|
CA359626653 rs1474380538 |
267 | H>P | No |
ClinGen gnomAD |
|
|
rs1265599764 CA359626647 |
268 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1240887300 CA359626618 |
273 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA359626601 rs1219793294 |
275 | Y>H | No |
ClinGen gnomAD |
|
|
CA3253473 rs758116505 |
278 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1014048269 CA117778666 |
281 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1014048269 CA359626545 |
281 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs200306864 CA3253455 |
281 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200306864 CA3253456 |
281 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359626539 rs1323780067 |
282 | L>S | No |
ClinGen gnomAD |
|
|
CA3253452 rs766119402 COSM188264 |
285 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs140541067 CA3253450 |
288 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763579417 CA3253448 |
289 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3253449 rs764471824 |
289 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763579417 CA359626495 |
289 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3253447 rs138806071 |
290 | G>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs571091977 CA117778580 |
291 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
rs1449665621 CA359626474 |
293 | K>Q | No |
ClinGen TOPMed |
|
|
rs771200534 CA3253443 |
295 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 295 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3253442 rs746993395 |
297 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1346453402 CA359626431 |
299 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA117778538 rs534151467 |
300 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
COSM381561 rs1377380023 CA359626420 |
301 | V>I | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1356341466 CA359626377 |
307 | K>T | No |
ClinGen TOPMed |
|
|
rs748055831 CA3253439 |
310 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1194621 rs528913676 CA117778514 |
311 | L>F | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA3253438 rs528913676 |
311 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs969075224 CA117778507 |
314 | E>A | No |
ClinGen Ensembl |
|
|
TCGA novel rs1374860156 CA359626307 |
317 | M>I | Variant assessed as Somatic; 0.0 impact. Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA117778504 rs200183355 |
318 | Y>C | No |
ClinGen Ensembl |
|
|
rs945615302 CA117776521 |
325 | I>V | No |
ClinGen TOPMed |
|
|
CA3253408 rs755915586 |
331 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA359626177 rs1472329938 |
335 | P>A | No |
ClinGen TOPMed |
|
|
rs929080132 CA117776519 |
335 | P>L | No |
ClinGen Ensembl |
|
|
rs1161445782 CA359626168 |
336 | N>I | No |
ClinGen TOPMed |
|
|
CA359626162 rs1410058171 |
337 | I>T | No |
ClinGen TOPMed |
|
|
CA3253407 rs745506790 |
337 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs370812681 CA117776510 |
338 | T>A | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 343 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1203244751 CA359626100 |
346 | G>* | No |
ClinGen gnomAD |
|
|
rs781058133 CA3253406 |
347 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265872256 CA359626084 |
349 | G>C | No |
ClinGen gnomAD |
|
| TCGA novel | 351 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359626048 rs1207874741 |
353 | Y>H | No |
ClinGen TOPMed |
|
|
CA359626025 rs967500882 |
356 | Q>H | No |
ClinGen TOPMed |
|
|
rs774416914 CA3253393 |
356 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs768534079 CA3253392 |
356 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs962286457 CA117775123 |
361 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3253390 rs775333678 |
364 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1395320923 CA359625959 |
366 | A>S | No |
ClinGen gnomAD |
|
|
CA359691987 rs1258391299 |
368 | K>N | No |
ClinGen gnomAD |
|
|
rs763013946 CA3253369 |
369 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA3253368 rs775484613 |
370 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs149902962 CA3253365 |
373 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 380 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777608510 CA3253361 |
388 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs544345952 CA3253340 |
395 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3253338 rs544345952 |
395 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746345071 CA3253337 |
401 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs757604787 CA3253335 |
407 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA117844585 rs908985473 |
409 | D>N | No |
ClinGen Ensembl |
|
|
CA3253333 rs777989204 |
414 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs768151186 | 417 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 419 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3253319 rs748855284 |
423 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs777065786 CA3253318 |
429 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA359688285 rs1203233152 |
430 | V>A | No |
ClinGen gnomAD |
|
|
CA3253317 rs141321563 |
430 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1579680844 CA359688253 |
433 | A>S | No |
ClinGen Ensembl |
|
|
CA3253315 rs778023760 |
433 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748285289 CA3253313 |
434 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 442 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359686343 rs1185265570 |
447 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 447 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1375395006 CA359686335 |
448 | N>S | No |
ClinGen gnomAD |
|
|
rs147809535 CA117819561 |
448 | N>Y | No |
ClinGen ESP |
|
|
rs111814163 CA3253293 |
450 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3253294 rs572611663 |
450 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA359686281 rs1364680084 |
452 | I>V | No |
ClinGen gnomAD |
|
|
rs1036287749 CA117819518 |
453 | M>I | No |
ClinGen TOPMed |
|
|
rs775810546 CA117819530 |
453 | M>L | No |
ClinGen gnomAD |
|
|
CA3253292 rs755255464 |
453 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs775810546 CA359686266 |
453 | M>V | No |
ClinGen gnomAD |
|
|
rs369643387 CA3253291 |
457 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA117819514 rs369643387 |
457 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359686196 rs1367149325 |
458 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 460 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359686161 rs1188111730 |
461 | T>I | No |
ClinGen gnomAD |
|
|
rs756309678 CA3253289 |
462 | G>* | No |
ClinGen ExAC gnomAD |
|
|
rs1486080401 CA359686132 |
464 | Q>* | No |
ClinGen gnomAD |
|
|
rs1259996560 CA359686128 |
464 | Q>R | No |
ClinGen gnomAD |
|
|
rs1236574281 CA359686085 |
467 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 474 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel CA3253270 rs745974297 |
477 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA117814214 rs78405270 |
477 | D>Y | No |
ClinGen Ensembl |
|
|
CA359683739 rs1215670822 |
479 | D>A | No |
ClinGen TOPMed |
|
|
CA3253269 rs780925405 |
481 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs966539737 CA117814204 |
481 | K>T | No |
ClinGen Ensembl |
|
|
rs757254035 CA3253268 |
482 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs201531575 CA3253267 |
483 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201531575 CA117814199 |
483 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 490 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1253451781 CA359683558 |
491 | E>D | No |
ClinGen gnomAD |
|
|
CA3253265 rs758232097 |
492 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3253262 rs368431817 |
495 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3253260 rs144283422 |
497 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1068321 rs778813276 CA3253259 |
498 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1385735182 CA359683387 |
499 | Q>E | No |
ClinGen TOPMed |
|
|
rs769109654 CA3253258 |
501 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 502 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3253257 rs763471313 |
502 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 505 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1311999765 CA359683252 |
506 | F>I | No |
ClinGen TOPMed |
|
|
rs938329262 CA117814150 |
507 | A>T | No |
ClinGen TOPMed |
|
|
CA3253235 rs776029321 |
510 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA359681372 rs1286858759 |
513 | M>L | No |
ClinGen gnomAD |
|
|
CA359681340 rs1579616077 |
514 | P>T | No |
ClinGen Ensembl |
|
|
rs1333324680 CA359681182 |
519 | A>V | No |
ClinGen gnomAD |
|
|
rs370598234 CA3253232 |
520 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3253231 rs771041499 |
521 | N>R | No |
ClinGen ExAC gnomAD |
1 associated diseases with P55809
[MIM: 245050]: Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD)
A disorder of ketone body metabolism, characterized by episodic ketoacidosis. Patients are usually asymptomatic between episodes. {ECO:0000269|PubMed:10964512, ECO:0000269|PubMed:21296660, ECO:0000269|PubMed:31073471, ECO:0000269|PubMed:33596448, ECO:0000269|PubMed:9671268}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder of ketone body metabolism, characterized by episodic ketoacidosis. Patients are usually asymptomatic between episodes. {ECO:0000269|PubMed:10964512, ECO:0000269|PubMed:21296660, ECO:0000269|PubMed:31073471, ECO:0000269|PubMed:33596448, ECO:0000269|PubMed:9671268}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for P55809
Functions
| Description | ||
|---|---|---|
| EC Number | 2.8.3.5 | CoA-transferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 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. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| 3-oxoacid CoA-transferase activity | Catalysis of the reaction: succinyl-CoA + a 3-oxo acid = succinate + a 3-oxo-acyl-CoA. |
| CoA-transferase activity | Catalysis of the transfer of a coenzyme A (CoA) group from one compound (donor) to another (acceptor). |
| identical protein binding | Binding to an identical protein or proteins. |
| succinyl-CoA 3-ketoacid-CoA transferase activity | Catalysis of the reaction: a 3-keto acid + succinyl-CoA = a 3-ketoacyl-CoA + succinate. |
13 GO annotations of biological process
| Name | Definition |
|---|---|
| adipose tissue development | The process whose specific outcome is the progression of adipose tissue over time, from its formation to the mature structure. Adipose tissue is specialized tissue that is used to store fat. |
| brain development | The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
| cellular ketone body metabolic process | The chemical reactions and pathways involving ketone bodies, any one of the three substances: acetoacetate, D-3-hydroxybutyrate (beta-hydroxybutyrate) or acetone, as carried out by individual cells. Although 3-hydroxybutyrate is not a ketone, it is classed as a ketone body because it exists in an equilibrium with acetoacetate. Ketone bodies may accumulate in excessive amounts in the body in starvation, diabetes mellitus or in other defects of carbohydrate metabolism. |
| heart development | The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. |
| ketone body catabolic process | The chemical reactions and pathways resulting in the breakdown of ketone bodies, any one of the three substances: acetoacetate, D-3-hydroxybutyrate (beta-hydroxybutyrate) or acetone. Ketone bodies can be used as an energy source as an alternative to glucose. Utilization of ketone bodies in peripheral tissues involves conversion of acetoacetate to acetoacetyl-CoA, which is then converted to two molecules of acetyl-CoA. |
| ketone catabolic process | The chemical reactions and pathways resulting in the breakdown of ketones, a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. |
| positive regulation of insulin secretion involved in cellular response to glucose stimulus | Any process that increases the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose. |
| response to activity | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an activity stimulus. |
| response to ethanol | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ethanol stimulus. |
| response to hormone | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus. |
| response to nutrient | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nutrient stimulus. |
| response to starvation | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a starvation stimulus, deprivation of nourishment. |
| response to xenobiotic stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9BYC2 | OXCT2 | Succinyl-CoA:3-ketoacid coenzyme A transferase 2, mitochondrial | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAALKLLSSG | LRLCASARGS | GATWYKGCVC | SFSTSAHRHT | KFYTDPVEAV | KDIPDGATVL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VGGFGLCGIP | ENLIDALLKT | GVKGLTAVSN | NAGVDNFGLG | LLLRSKQIKR | MVSSYVGENA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EFERQYLSGE | LEVELTPQGT | LAERIRAGGA | GVPAFYTPTG | YGTLVQEGGS | PIKYNKDGSV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AIASKPREVR | EFNGQHFILE | EAITGDFALV | KAWKADRAGN | VIFRKSARNF | NLPMCKAAET |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TVVEVEEIVD | IGAFAPEDIH | IPQIYVHRLI | KGEKYEKRIE | RLSIRKEGDG | EAKSAKPGDD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VRERIIKRAA | LEFEDGMYAN | LGIGIPLLAS | NFISPNITVH | LQSENGVLGL | GPYPRQHEAD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ADLINAGKET | VTILPGASFF | SSDESFAMIR | GGHVDLTMLG | AMQVSKYGDL | ANWMIPGKMV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KGMGGAMDLV | SSAKTKVVVT | MEHSAKGNAH | KIMEKCTLPL | TGKQCVNRII | TEKAVFDVDK |
| 490 | 500 | 510 | |||
| KKGLTLIELW | EGLTVDDVQK | STGCDFAVSP | KLMPMQQIAN |