Q16836
PR
Gene name |
HADH |
Protein name |
Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial |
Names |
Discoidin domain receptor 2, CD167 antigen-like family member B, Discoidin domain-containing receptor tyrosine kinase 2, Neurotrophic tyrosine kinase, receptor-related 3, Receptor protein-tyrosine kinase TKT, Tyrosine-protein kinase TYRO10, HCDH, Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase, Short-chain 3-hydroxyacyl-CoA dehydrogenase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3033 |
EC number |
1.1.1.35: With NAD(+) or NADP(+) 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
13 structures for Q16836
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1F0Y | X-ray | 180 A | A/B | 13-314 | PDB |
| 1F12 | X-ray | 240 A | A/B | 13-314 | PDB |
| 1F14 | X-ray | 230 A | A/B | 13-314 | PDB |
| 1F17 | X-ray | 230 A | A/B | 13-314 | PDB |
| 1IL0 | X-ray | 220 A | A/B | 13-314 | PDB |
| 1LSJ | X-ray | 250 A | A/B | 13-314 | PDB |
| 1LSO | X-ray | 260 A | A/B | 13-314 | PDB |
| 1M75 | X-ray | 230 A | A/B | 13-314 | PDB |
| 1M76 | X-ray | 215 A | A/B | 13-314 | PDB |
| 2HDH | X-ray | 220 A | A/B | 24-314 | PDB |
| 3HAD | X-ray | 200 A | A/B | 13-314 | PDB |
| 3RQS | X-ray | 200 A | A/B | 1-314 | PDB |
| AF-Q16836-F1 | Predicted | AlphaFoldDB |
254 variants for Q16836
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs374248298 RCV001174480 RCV001873641 RCV003221364 CA3037315 |
16 | S>F | Hyperinsulinemic hypoglycemia Monogenic diabetes Deficiency of 3-hydroxyacyl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000875072 rs74428123 CA3037326 RCV003221359 |
33 | I>M | Hyperinsulinemic hypoglycemia Deficiency of 3-hydroxyacyl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002470991 RCV000816566 RCV003221358 CA3037327 rs779135938 |
34 | G>R | Hyperinsulinemic hypoglycemia Deficiency of 3-hydroxyacyl-CoA dehydrogenase Hyperinsulinemic hypoglycemia, familial, 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA119220 RCV000008482 VAR_024079 rs137853101 RCV003221346 |
40 | A>T | Hyperinsulinemic hypoglycemia Deficiency of 3-hydroxyacyl-CoA dehydrogenase HADH deficiency [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000008483 RCV003221347 rs137853102 RCV001762038 VAR_024080 CA119223 |
57 | D>E | Hyperinsulinemic hypoglycemia Hyperinsulinemic hypoglycemia, familial, 4 (hhf4) Deficiency of 3-hydroxyacyl-CoA dehydrogenase Hyperinsulinemic hypoglycemia, familial, 4 HADH deficiency [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs4956145 RCV000530765 |
86 | L>= | Deficiency of 3-hydroxyacyl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001513868 CA180095 RCV000153344 rs4956145 VAR_026764 |
86 | L>P | Deficiency of 3-hydroxyacyl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA357831195 RCV003221357 RCV000793783 rs1292646768 |
89 | G>D | Hyperinsulinemic hypoglycemia Variant assessed as Somatic; 0.0 impact. Deficiency of 3-hydroxyacyl-CoA dehydrogenase [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA207298 RCV003221847 rs61735992 RCV000193662 RCV000664099 RCV001143927 RCV001084975 RCV000224208 |
92 | F>C | Hyperinsulinemic hypoglycemia Monogenic diabetes Deficiency of 3-hydroxyacyl-CoA dehydrogenase Hyperinsulinemic hypoglycemia, familial, 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003222296 CA357831225 rs1274785101 RCV001302501 |
94 | E>Q | Hyperinsulinemic hypoglycemia Deficiency of 3-hydroxyacyl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV003222136 RCV000808541 RCV001143928 CA3037435 RCV000454321 CA16609507 rs146732064 |
117 | V>L | Hyperinsulinemic hypoglycemia Deficiency of 3-hydroxyacyl-CoA dehydrogenase Hyperinsulinemic hypoglycemia, familial, 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001174481 RCV003222244 CA3037438 rs377615662 RCV001873642 |
121 | V>M | Hyperinsulinemic hypoglycemia Monogenic diabetes Deficiency of 3-hydroxyacyl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001764478 RCV003222004 rs766656997 RCV000498051 |
125 | K>missing | Hyperinsulinemic hypoglycemia Hyperinsulinemic hypoglycemia, familial, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001236441 RCV003222269 rs1735626197 |
127 | K>R | Hyperinsulinemic hypoglycemia Deficiency of 3-hydroxyacyl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000194877 RCV001143929 CA209330 RCV001086439 RCV000757347 VAR_055701 RCV000664100 RCV000764522 rs1051519 |
152 | Q>H | Hyperinsulinemic hypoglycemia, familial, 4 (hhf4) Monogenic diabetes Deficiency of 3-hydroxyacyl-CoA dehydrogenase Hyperinsulinemic hypoglycemia, familial, 4 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3037482 RCV003222218 RCV001071323 rs780252799 |
160 | T>I | Hyperinsulinemic hypoglycemia Deficiency of 3-hydroxyacyl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001067135 CA3037483 rs768880930 RCV003222215 |
165 | R>Q | Hyperinsulinemic hypoglycemia Deficiency of 3-hydroxyacyl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001766804 rs745727504 RCV000987462 RCV003221308 |
196 | S>missing | Hyperinsulinemic hypoglycemia Deficiency of 3-hydroxyacyl-CoA dehydrogenase Hyperinsulinemic hypoglycemia, familial, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001174482 rs144699575 CA3037519 RCV001817035 RCV003222160 RCV000875947 |
205 | G>A | Hyperinsulinemic hypoglycemia Monogenic diabetes Deficiency of 3-hydroxyacyl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001090884 RCV003222221 rs1735963864 |
206 | K>missing | Hyperinsulinemic hypoglycemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001816664 RCV000764523 RCV000872937 RCV000664101 RCV001082981 RCV003222089 rs140413151 RCV001145823 CA3037542 |
215 | P>T | Hyperinsulinemic hypoglycemia Monogenic diabetes Deficiency of 3-hydroxyacyl-CoA dehydrogenase Hyperinsulinemic hypoglycemia, familial, 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000764524 rs76476980 RCV000445511 CA3037545 RCV001084606 RCV001145824 RCV001821213 RCV000521350 RCV003221980 |
221 | R>H | Hyperinsulinemic hypoglycemia Hyperinsulinemic hypoglycemia, familial, 4 (hhf4) Monogenic diabetes Deficiency of 3-hydroxyacyl-CoA dehydrogenase Hyperinsulinemic hypoglycemia, familial, 4 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000194052 CA207951 VAR_083649 rs146036912 RCV001762415 |
226 | Y>H | Variant assessed as Somatic; 4.623e-05 impact. Hyperinsulinemic hypoglycemia, familial, 4 (hhf4) Deficiency of 3-hydroxyacyl-CoA dehydrogenase Hyperinsulinemic hypoglycemia, familial, 4 found in a patient with Reye-like syndrome; loss of 3-hydroxyacyl-CoA dehydrogenase activity. Does not affect dimerization [NCI-TCGA, Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003222231 CA3037549 RCV001145825 RCV001145826 rs780574282 |
230 | A>T | Hyperinsulinemic hypoglycemia Variant assessed as Somatic; 0.0 impact. Deficiency of 3-hydroxyacyl-CoA dehydrogenase Hyperinsulinemic hypoglycemia, familial, 4 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs375717077 CA261133 RCV001781331 RCV000032678 |
236 | R>* | Hyperinsulinemic hypoglycemia, familial, 4 (hhf4) Hyperinsulinemic hypoglycemia, familial, 4 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001300175 rs1736337186 RCV003222294 |
242 | E>G | Hyperinsulinemic hypoglycemia Deficiency of 3-hydroxyacyl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1736337431 RCV001304594 RCV003222297 |
247 | A>V | Hyperinsulinemic hypoglycemia Deficiency of 3-hydroxyacyl-CoA dehydrogenase [ClinVar] | Yes |
ClinVar dbSNP |
|
rs771071992 RCV003222299 CA3037622 RCV001306539 |
254 | Y>C | Hyperinsulinemic hypoglycemia Deficiency of 3-hydroxyacyl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA254309 VAR_024081 rs137853103 RCV000008484 |
258 | P>L | Hyperinsulinemic hypoglycemia, familial, 4 (hhf4) Hyperinsulinemic hypoglycemia, familial, 4 HHF4; loss of 3-hydroxyacyl-CoA dehydrogenase activity [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001148590 RCV001148591 RCV003222233 CA3037631 rs577954688 |
270 | T>M | Hyperinsulinemic hypoglycemia Deficiency of 3-hydroxyacyl-CoA dehydrogenase Hyperinsulinemic hypoglycemia, familial, 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA3037635 rs543440046 RCV003222305 RCV001325202 |
274 | V>M | Hyperinsulinemic hypoglycemia Deficiency of 3-hydroxyacyl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1736344235 RCV001148595 RCV003222235 RCV001148594 |
275 | D>E | Hyperinsulinemic hypoglycemia Deficiency of 3-hydroxyacyl-CoA dehydrogenase Hyperinsulinemic hypoglycemia, familial, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001148593 RCV003222234 CA3037636 RCV001148592 RCV002557184 rs150766162 |
275 | D>N | Hyperinsulinemic hypoglycemia Deficiency of 3-hydroxyacyl-CoA dehydrogenase Hyperinsulinemic hypoglycemia, familial, 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002481352 RCV003221981 rs36030668 RCV000445389 RCV000502882 RCV000865133 CA3037655 RCV001653781 |
294 | N>S | Hyperinsulinemic hypoglycemia Monogenic diabetes Deficiency of 3-hydroxyacyl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000314001 RCV003221948 rs376876153 RCV000371008 CA3037658 |
297 | V>I | Hyperinsulinemic hypoglycemia Deficiency of 3-hydroxyacyl-CoA dehydrogenase Hyperinsulinemic hypoglycemia, familial, 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs575378007 CA3037662 RCV001577280 RCV003222134 RCV000801921 |
303 | G>V | Hyperinsulinemic hypoglycemia Deficiency of 3-hydroxyacyl-CoA dehydrogenase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1229463237 CA357828420 |
2 | A>T | No |
ClinGen TOPMed |
|
|
CA357828486 rs1233803240 |
7 | Q>E | No |
ClinGen gnomAD |
|
|
rs1275038972 CA357828516 |
8 | F>L | No |
ClinGen gnomAD |
|
|
rs1466918215 CA357828532 |
10 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1212848224 CA357828538 |
10 | R>L | No |
ClinGen gnomAD |
|
|
rs1246291541 CA357828549 |
11 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1246291541 CA357828550 |
11 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs761268836 CA3037311 |
12 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs139920805 CA3037310 |
12 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA102860901 rs143346680 |
13 | S>F | No |
ClinGen ESP gnomAD |
|
|
CA3037313 rs764746023 |
14 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1578237838 CA357828591 COSM1309606 COSM1309607 |
15 | S>L | urinary_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1003291250 CA3037316 |
17 | T>A | No |
ClinGen TOPMed |
|
|
rs201600831 CA3037318 |
17 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357828624 rs1414869769 |
18 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs555570196 CA3037319 |
18 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1294986820 CA357828643 |
19 | S>W | No |
ClinGen gnomAD |
|
|
CA357828679 rs1332610418 |
21 | S>L | No |
ClinGen gnomAD |
|
|
rs756215599 CA3037323 |
26 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748128617 CA3037322 |
26 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3037324 rs777924030 |
31 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA3037325 rs749406566 |
32 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1163235021 CA357828879 |
32 | V>F | No |
ClinGen gnomAD |
|
|
CA357828903 rs1578237938 |
33 | I>T | No |
ClinGen Ensembl |
|
|
rs1378871447 CA357828895 |
33 | I>V | No |
ClinGen TOPMed |
|
|
CA357828920 rs779135938 |
34 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357828924 rs779135938 |
34 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145521658 CA357828947 |
35 | G>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs145521658 CA3037328 |
35 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs994692222 CA102860967 |
36 | G>R | No |
ClinGen TOPMed |
|
|
CA3037329 rs772452366 |
39 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 41 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3037330 rs775923392 |
42 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357829076 rs1264862903 |
42 | I>M | No |
ClinGen TOPMed |
|
|
rs775923392 CA357829063 |
42 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3037332 rs769224699 |
43 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761180931 CA3037331 |
43 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1361259341 CA357829105 |
44 | Q>R | No |
ClinGen TOPMed |
|
|
rs774004490 CA3037376 |
45 | V>A | No |
ClinGen ExAC |
|
| VAR_083648 | 57 | D>G | found in a patient with Reye-like syndrome. Does not affect 3-hydroxyacyl-CoA dehydrogenase activity. Increases KM value for NADH. Does not affect dimerization [UniProt] | No | UniProt |
|
rs1436737401 CA357830707 |
58 | Q>P | No |
ClinGen gnomAD |
|
|
rs200175199 CA102873250 |
61 | D>G | No |
ClinGen 1000Genomes |
|
|
CA102873262 rs1056668974 |
62 | I>N | No |
ClinGen Ensembl |
|
|
CA3037381 rs142526061 |
62 | I>V | No |
ClinGen ESP ExAC TOPMed |
|
|
CA3037382 rs761658165 |
66 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs765353149 CA3037383 |
67 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA357830775 rs1309559121 |
68 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs750557828 CA357830780 |
69 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs750557828 CA3037384 |
69 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs750557828 CA102873285 |
69 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs758595376 CA3037385 |
70 | I>M | No |
ClinGen ExAC |
|
|
rs766627672 CA3037386 |
73 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA357830814 rs1349330334 |
74 | L>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 75 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3037387 rs751811146 |
77 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA357830834 rs751811146 |
77 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA357830831 rs1578251628 |
77 | V>L | No |
ClinGen Ensembl |
|
|
CA357830843 rs1560728394 |
79 | K>E | No |
ClinGen Ensembl |
|
|
CA3037390 rs150930917 |
79 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3037392 rs756647666 |
81 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778556082 CA3037393 |
81 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3037394 rs745423719 |
81 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3037395 rs199926432 |
82 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1174075349 CA357830885 |
85 | N>D | No |
ClinGen gnomAD |
|
|
CA357830894 rs4956145 |
86 | L>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs4956145 CA357830895 |
86 | L>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3037398 rs776353265 |
87 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 88 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769599912 CA357831194 |
89 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769599912 CA3037417 |
89 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201949765 CA3037420 |
90 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3037419 rs762881778 |
90 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA357831198 rs762881778 |
90 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs559972772 CA3037421 |
92 | F>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA102875100 rs536173298 |
95 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs568830015 CA3037423 |
98 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA357831254 rs568830015 |
98 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3037425 rs375910422 |
101 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778926835 CA102875114 |
103 | S>G | No |
ClinGen Ensembl |
|
|
rs757901264 CA3037427 |
103 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357831285 rs1416395797 |
103 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs370013373 CA357831290 |
104 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370013373 CA3037428 |
104 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1420935961 CA357831305 |
106 | A>V | No |
ClinGen gnomAD |
|
|
rs754639484 CA3037430 |
107 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs754639484 CA357831306 |
107 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3037432 rs199810422 |
109 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3037433 rs769511109 |
110 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1430862162 CA357831344 |
113 | T>A | No |
ClinGen TOPMed |
|
|
CA3037440 rs138833043 |
122 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3037439 rs138833043 |
122 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357831483 rs1369707250 |
124 | L>M | No |
ClinGen gnomAD |
|
|
rs958237965 CA102875155 |
125 | K>R | No |
ClinGen Ensembl |
|
|
CA3037443 rs764544342 |
128 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1237134068 CA357831548 |
129 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs762382167 CA3037445 |
130 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA357831589 rs1156513616 |
132 | K>E | No |
ClinGen gnomAD |
|
|
rs1262186453 CA357831638 |
136 | K>E | Hyperinsulinemic hypoglycemia, familial, 4 (hhf4) [Ensembl] | No |
ClinGen gnomAD |
|
rs750964453 CA3037447 |
136 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3037448 rs754407550 |
137 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA3037449 rs767059882 |
138 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 140 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs531255799 CA3037474 |
141 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA102876947 rs916141493 |
142 | T>R | No |
ClinGen TOPMed |
|
|
CA357832694 rs755730411 |
143 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs755730411 CA3037475 |
143 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3037476 rs763783107 |
145 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA357832748 rs1326573157 |
146 | S>G | No |
ClinGen gnomAD |
|
|
CA3037477 COSM732029 rs753508883 COSM732028 |
147 | N>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA102876955 rs1038367812 |
148 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs756959997 CA3037479 |
152 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA3037480 rs745784046 |
154 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1395001424 CA357832930 |
157 | A>G | No |
ClinGen gnomAD |
|
|
CA357832926 rs1169737128 |
157 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1560733799 CA357832946 |
158 | N>I | No |
ClinGen Ensembl |
|
|
CA3037481 rs758432207 |
159 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA357833031 rs1435860530 |
164 | D>G | No |
ClinGen gnomAD |
|
|
rs1239277010 CA357833041 |
165 | R>G | No |
ClinGen TOPMed |
|
|
rs1342966662 CA357833053 |
166 | F>Y | No |
ClinGen gnomAD |
|
|
rs370306695 CA3037485 |
167 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1337067533 CA357833075 |
168 | G>C | No |
ClinGen TOPMed |
|
|
CA357833211 rs1440123580 |
175 | V>M | No |
ClinGen TOPMed |
|
|
rs542779365 CA3037488 |
176 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA357833250 rs1265198080 |
177 | V>A | No |
ClinGen gnomAD |
|
|
CA357833236 rs1193783078 |
177 | V>I | No |
ClinGen gnomAD |
|
|
rs1045723176 CA357833255 |
178 | M>K | No |
ClinGen TOPMed |
|
|
rs1045723176 CA102876998 |
178 | M>T | No |
ClinGen TOPMed |
|
|
CA3037489 rs763364092 |
178 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs774956302 CA3037491 |
181 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs374179494 CA357833314 |
182 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374179494 CA3037492 |
182 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761345529 CA3037512 |
188 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA357834471 rs1281604673 |
188 | M>T | No |
ClinGen TOPMed |
|
|
CA357834460 rs1560735957 |
188 | M>V | No |
ClinGen Ensembl |
|
|
CA3037514 rs750069218 |
190 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1311091051 CA357834529 |
191 | Q>E | No |
ClinGen gnomAD |
|
|
CA357834556 rs1346164738 |
191 | Q>R | No |
ClinGen TOPMed |
|
|
CA357834587 rs1399416915 |
193 | T>I | No |
ClinGen TOPMed |
|
|
rs1384847299 CA357834610 |
194 | F>S | No |
ClinGen TOPMed |
|
|
CA357834646 rs1560736007 |
195 | E>D | No |
ClinGen Ensembl |
|
|
CA357834666 rs1256471525 |
196 | S>F | No |
ClinGen gnomAD |
|
|
rs1198706606 CA357834772 |
201 | S>R | No |
ClinGen gnomAD |
|
|
rs1476261598 COSM4150408 COSM4150409 CA357834781 |
202 | K>E | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA3037517 rs751485282 |
202 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3037518 rs777874016 |
203 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1179419890 CA357834841 |
205 | G>R | No |
ClinGen gnomAD |
|
|
CA357834857 rs1158516423 |
206 | K>R | No |
ClinGen gnomAD |
|
|
rs1196763460 CA357834883 |
208 | P>A | No |
ClinGen TOPMed |
|
|
rs1468010488 CA357834896 |
209 | V>L | No |
ClinGen gnomAD |
|
|
rs752861969 CA3037520 |
210 | S>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 210 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140413151 COSM447208 COSM447207 CA102880070 |
215 | P>S | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA102880071 rs961703000 |
216 | G>R | No |
ClinGen Ensembl |
|
|
CA3037544 rs367902441 |
221 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 224 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757528995 CA3037546 |
225 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA357835936 rs1255896178 |
226 | Y>F | No |
ClinGen gnomAD |
|
|
CA102880094 rs371477370 |
227 | L>P | No |
ClinGen ESP TOPMed |
|
|
CA3037548 rs746284096 |
228 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA3037547 rs746284096 |
228 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs747476251 CA3037551 |
232 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA357836009 rs1253780004 |
234 | Y>H | No |
ClinGen TOPMed |
|
|
rs911399847 CA102880106 |
235 | E>D | No |
ClinGen gnomAD |
|
|
rs748945961 CA3037552 |
236 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs555557385 CA102860990 |
237 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs770747300 CA3037553 |
237 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA3037615 rs746680125 |
239 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3037614 COSM200867 rs746680125 |
239 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs748074306 CA3037617 |
241 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA357830130 rs1437349495 |
244 | I>T | No |
ClinGen gnomAD |
|
|
CA3037618 rs769764986 |
248 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA102861006 rs766995465 |
250 | L>F | No |
ClinGen Ensembl |
|
|
CA357830172 rs1294126922 |
250 | L>S | No |
ClinGen TOPMed |
|
|
rs749276908 CA3037621 |
253 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA357830205 rs1350354696 |
256 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA102861044 rs1044473165 |
259 | F>L | No |
ClinGen Ensembl |
|
|
CA3037624 rs759816402 |
260 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1451655611 CA357830242 |
261 | L>R | No |
ClinGen gnomAD |
|
|
CA3037625 rs767977627 |
262 | L>V | No |
ClinGen ExAC |
|
|
CA357830254 rs1223182881 |
263 | D>V | No |
ClinGen gnomAD |
|
|
CA357830257 rs1244508396 |
264 | Y>D | No |
ClinGen gnomAD |
|
|
rs1244508396 CA357830259 |
264 | Y>H | No |
ClinGen gnomAD |
|
|
rs1480041496 CA357830261 |
264 | Y>S | No |
ClinGen gnomAD |
|
|
CA357830271 rs1476756305 |
266 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs567590767 CA3037628 |
268 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3037629 rs754403207 |
269 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757783275 CA3037630 |
270 | T>A | No |
ClinGen ExAC |
|
|
rs1363810752 CA357830307 |
272 | F>L | No |
ClinGen gnomAD |
|
|
rs897045156 CA102861092 |
273 | I>T | No |
ClinGen gnomAD |
|
|
CA357830315 rs1404810726 |
273 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1329695684 CA357830322 |
274 | V>A | No |
ClinGen TOPMed |
|
|
rs543440046 CA3037634 |
274 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1312548582 CA357830363 |
278 | H>Q | No |
ClinGen gnomAD |
|
|
CA357830357 rs1449681265 |
278 | H>Y | No |
ClinGen gnomAD |
|
|
rs1131743 CA102861710 |
279 | E>D | No |
ClinGen Ensembl |
|
|
CA3037648 rs764560848 |
279 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1240301376 CA357830375 |
280 | M>T | No |
ClinGen gnomAD |
|
|
CA357830371 rs1174999520 |
280 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1288033527 CA357830386 |
281 | D>E | No |
ClinGen gnomAD |
|
|
CA357830382 rs1182766194 |
281 | D>Y | No |
ClinGen TOPMed |
|
|
rs972897276 CA102861721 |
282 | A>S | No |
ClinGen TOPMed |
|
|
CA102861715 rs972897276 |
282 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3037650 rs762444373 |
283 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA357830423 rs1179548918 |
287 | H>R | No |
ClinGen TOPMed |
|
|
CA3037651 rs765803947 |
287 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 288 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754605326 CA3037653 |
288 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs751120678 CA3037652 |
288 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357830434 rs1454940642 |
289 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs573366998 CA3037654 |
290 | S>T | No |
ClinGen 1000Genomes ExAC |
|
|
CA102861780 COSM136426 rs112102907 |
292 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA3037656 rs755838486 |
295 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs982757924 CA102861815 |
300 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA357830506 rs1434766455 |
300 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs201772964 CA3037661 |
303 | G>S | Hyperinsulinemic hypoglycemia, familial, 4 (hhf4) [Ensembl] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs774776105 CA102861820 |
304 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 309 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA102861829 rs944103070 |
314 | K>N | No |
ClinGen TOPMed gnomAD |
2 associated diseases with Q16836
[MIM: 231530]: 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency)
An autosomal recessive, metabolic disorder with various clinical presentations including hypoglycemia, hepatoencephalopathy, myopathy or cardiomyopathy, and in some cases sudden death. {ECO:0000269|Ref.14}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 609975]: Familial hyperinsulinemic hypoglycemia 4 (HHF4)
Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF4 should be easily recognizable by analysis of acylcarnitine species and that this disorder responds well to treatment with diazoxide. It provides the first 'experiment of nature' that links impaired fatty acid oxidation to hyperinsulinism and that provides support for the concept that a lipid signaling pathway is implicated in the control of insulin secretion. {ECO:0000269|PubMed:11489939}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive, metabolic disorder with various clinical presentations including hypoglycemia, hepatoencephalopathy, myopathy or cardiomyopathy, and in some cases sudden death. {ECO:0000269|Ref.14}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF4 should be easily recognizable by analysis of acylcarnitine species and that this disorder responds well to treatment with diazoxide. It provides the first 'experiment of nature' that links impaired fatty acid oxidation to hyperinsulinism and that provides support for the concept that a lipid signaling pathway is implicated in the control of insulin secretion. {ECO:0000269|PubMed:11489939}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 1.1.1.35 | With NAD(+) or NADP(+) as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| 3-hydroxyacyl-CoA dehydrogenase activity | Catalysis of the reaction: (S)-3-hydroxyacyl-CoA + NAD+ = 3-oxoacyl-CoA + NADH + H(+). |
| identical protein binding | Binding to an identical protein or proteins. |
| NAD+ binding | Binding to the oxidized form, NAD, of nicotinamide adenine dinucleotide, a coenzyme involved in many redox and biosynthetic reactions. |
| transferase activity | Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| fatty acid beta-oxidation | A fatty acid oxidation process that results in the complete oxidation of a long-chain fatty acid. Fatty acid beta-oxidation begins with the addition of coenzyme A to a fatty acid, and occurs by successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A; the cycle continues until only two or three carbons remain (as acetyl-CoA or propionyl-CoA respectively). |
| negative regulation of insulin secretion | Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of insulin. |
| positive regulation of cold-induced thermogenesis | Any process that activates or increases the frequency, rate or extent of cold-induced thermogenesis. |
| regulation of insulin secretion | Any process that modulates the frequency, rate or extent of the regulated release of insulin. |
| 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 insulin | 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 insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. |
| 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 |
|---|---|---|---|---|
| Q61425 | Hadh | Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAFVTRQFMR | SVSSSSTASA | SAKKIIVKHV | TVIGGGLMGA | GIAQVAAATG | HTVVLVDQTE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DILAKSKKGI | EESLRKVAKK | KFAENLKAGD | EFVEKTLSTI | ATSTDAASVV | HSTDLVVEAI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VENLKVKNEL | FKRLDKFAAE | HTIFASNTSS | LQITSIANAT | TRQDRFAGLH | FFNPVPVMKL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VEVIKTPMTS | QKTFESLVDF | SKALGKHPVS | CKDTPGFIVN | RLLVPYLMEA | IRLYERGDAS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KEDIDTAMKL | GAGYPMGPFE | LLDYVGLDTT | KFIVDGWHEM | DAENPLHQPS | PSLNKLVAEN |
| 310 | |||||
| KFGKKTGEGF | YKYK |